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 MYCBP2 23077 broad.mit.edu 37 13 77718653 77718653 + Silent SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:77718653A>G ENST00000407578.2 - 49 7496 c.7230T>C c.(7228-7230)acT>acC p.T2410T MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.T2372T|MYCBP2_ENST00000544440.2_Silent_p.T2372T NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTGCACAATAAGTCCCATCAT 0.378000 6 146 0 0 0.307466 0 0 FMNL2 114793 broad.mit.edu 37 2 153475450 153475450 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:153475450G>A ENST00000288670.9 + 14 1772 c.1405G>A c.(1405-1407)Gaa>Aaa p.E469K NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 469 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GTCTACCCTGGAAAAAAAGAT 0.378000 23 25 0 0 0.639603 0 0 DSC1 1823 broad.mit.edu 37 18 28728554 28728554 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:28728554G>A ENST00000257197.3 - 6 940 c.679C>T c.(679-681)Cct>Tct p.P227S RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P227S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 227 Cadherin 1. 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) ATGATCAAAGGGAGTGGATAT 0.378000 24 48 0 0 0.693898 0 0 TREML2 79865 broad.mit.edu 37 6 41166097 41166097 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:41166097G>A ENST00000483722.1 - 2 311 c.126C>T c.(124-126)tcC>tcT p.S42S NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 42 Ig-like V-type. T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCCCTTATAGGAGCACTGCA 0.517000 47 81 0 0 0.870114 0 0 CD63 967 broad.mit.edu 37 12 56120749 56120749 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:56120749C>T ENST00000549117.1 - 4 692 c.e4-1 CD63_ENST00000552692.1_Splice_Site|CD63_ENST00000552067.1_Splice_Site|CD63_ENST00000552754.1_Splice_Site|CD63_ENST00000548160.1_5'UTR|CD63_ENST00000420846.3_Splice_Site|CD63_ENST00000257857.4_Splice_Site|CD63_ENST00000550776.1_Splice_Site|CD63_ENST00000546939.1_Splice_Site|CD63_ENST00000548898.1_Splice_Site NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 AGATGGCAAACTGCAGGAGCA 0.512000 66 56 0 0 0.870114 0 0 ITGA6 3655 broad.mit.edu 37 2 173349578 173349578 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:173349578C>T ENST00000375221.2 + 13 1938 c.1735C>T c.(1735-1737)Cga>Tga p.R579* AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Nonsense_Mutation_p.R421*|ITGA6_ENST00000343713.4_Nonsense_Mutation_p.R535*|ITGA6_ENST00000409080.1_Nonsense_Mutation_p.R540*|ITGA6_ENST00000264106.6_Nonsense_Mutation_p.R579*|ITGA6_ENST00000264107.7_Nonsense_Mutation_p.R540* P23229 ITA6_HUMAN integrin, alpha 6 579 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AGTTCAGTTTCGAAACCAAGG 0.408000 13 63 0 0 0.457914 0 0 MUC16 94025 broad.mit.edu 37 19 9085237 9085237 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9085237G>A ENST00000397910.4 - 1 6781 c.6578C>T c.(6577-6579)tCc>tTc p.S2193F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2193 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CATTCTAAAGGAAACCAAAGA 0.468000 3 19 0 0 0.150653 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497661 1497661 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:1497661G>A ENST00000421627.2 + 2 936 c.802G>A c.(802-804)Gac>Aac p.D268N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 347 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGCAACAACGACGTCAAGTG 0.667000 24 34 0 0 0.654019 0 0 USP21 27005 broad.mit.edu 37 1 161130686 161130686 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:161130686C>T ENST00000368002.3 + 3 633 c.256C>T c.(256-258)Cat>Tat p.H86Y USP21_ENST00000289865.8_Missense_Mutation_p.H86Y|USP21_ENST00000368001.1_Missense_Mutation_p.H86Y NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 86 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCGAGCAGATCATGGGGTTCC 0.637000 26 7 0 0 0.729181 0 0 TMEM209 84928 broad.mit.edu 37 7 129841882 129841882 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:129841882G>A ENST00000397622.2 - 5 503 c.381C>T c.(379-381)ccC>ccT p.P127P RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Silent_p.P126P|TMEM209_ENST00000462753.1_Silent_p.P126P|TMEM209_ENST00000473456.1_Silent_p.P127P NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 127 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) AAGGTGGAGCGGGAGGGATTT 0.463000 22 38 0 0 0.667858 0 0 SEC23B 10483 broad.mit.edu 37 20 18511378 18511378 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:18511378C>T ENST00000336714.3 + 10 1596 c.1164C>T c.(1162-1164)ttC>ttT p.F388F SEC23B_ENST00000377465.1_Silent_p.F388F|SEC23B_ENST00000377475.3_Silent_p.F388F|SEC23B_ENST00000262544.2_Silent_p.F388F NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 388 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 AGCAGACATTCCAAAGAATCT 0.338000 34 22 0 0 0.827153 0 0 NLRP7 199713 broad.mit.edu 37 19 55451490 55451490 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:55451490C>T ENST00000588756.1 - 6 1183 c.697G>A c.(697-699)Gaa>Aaa p.E233K NLRP7_ENST00000328092.5_Missense_Mutation_p.E233K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E233K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E233K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E233K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E233K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E261K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 233 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCCTGCAATTCAGGCCAGTCT 0.567000 57 41 0 0 0.870114 0 0 PTPRK 5796 broad.mit.edu 37 6 128304508 128304508 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:128304508C>T ENST00000368227.3 - 24 3683 c.3317G>A c.(3316-3318)cGa>cAa p.R1106Q PTPRK_ENST00000368213.5_Missense_Mutation_p.R1095Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1111Q|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1088Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1089Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1107Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1121Q Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1088 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCAGCCAGTTCGTCCAGCACC 0.383000 13 36 0 0 0.479597 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094904 139094904 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:139094904C>T ENST00000332797.6 + 1 248 c.93C>T c.(91-93)ttC>ttT p.F31F NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 31 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TACGTCACTTCCGTAAACAAA 0.642000 41 86 0 0 0.870114 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 24 0 0 0.115264 0 0 RIMS1 22999 broad.mit.edu 37 6 72596752 72596752 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:72596752G>A ENST00000264839.7 + 1 26 c.26G>A c.(25-27)gGt>gAt p.G9D RIMS1_ENST00000348717.5_Missense_Mutation_p.G9D|RIMS1_ENST00000517960.1_Missense_Mutation_p.G9D|RIMS1_ENST00000522291.1_Missense_Mutation_p.G9D|RIMS1_ENST00000521978.1_Missense_Mutation_p.G9D|RIMS1_ENST00000520567.1_Missense_Mutation_p.G9D|RIMS1_ENST00000491071.2_Missense_Mutation_p.G9D|RIMS1_ENST00000518273.1_Missense_Mutation_p.G9D Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 9 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGGCCCCGCGGTCCTCGCCCA 0.677000 10 12 0 0 0.411799 0 0 ZNF320 162967 broad.mit.edu 37 19 53384634 53384634 + Missense_Mutation SNP C C G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:53384634C>G ENST00000595635.1 - 8 1246 c.745G>C c.(745-747)Gag>Cag p.E249Q ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E249Q|ZNF320_ENST00000597909.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TTGCCACACTCATTACACTTA 0.393000 42 48 0 0 0.870114 0 0 STAP1 26228 broad.mit.edu 37 4 68459042 68459042 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:68459042G>A ENST00000265404.2 + 8 876 c.794G>A c.(793-795)aGa>aAa p.R265K STAP1_ENST00000396225.1_Missense_Mutation_p.R265K NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 265 SH2. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 GGAAATTTAAGACCATTTATA 0.338000 34 17 0 0 0.840704 0 0 XIRP2 129446 broad.mit.edu 37 2 167992518 167992518 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:167992518G>A ENST00000409195.1 + 3 597 c.508G>A c.(508-510)Gaa>Aaa p.E170K XIRP2_ENST00000409756.2_Missense_Mutation_p.E170K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E170K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E170K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E170K|XIRP2_ENST00000409043.1_Missense_Mutation_p.E170K|XIRP2-AS1_ENST00000525330.1_RNA NM_152381.5 NP_689594.4 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 GAAAGGCAAGGAAACATCTTT 0.438000 21 56 0 0 0.639603 0 0 BARHL2 343472 broad.mit.edu 37 1 91180150 91180150 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:91180150C>T ENST00000370445.4 - 2 830 c.789G>A c.(787-789)atG>atA p.M263I NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 263 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CAGCCAGGTCCATGCGATCCT 0.567000 52 19 0 0 0.870114 0 0 DCLK3 85443 broad.mit.edu 37 3 36779466 36779466 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:36779466G>A ENST00000416516.2 - 2 1175 c.685C>T c.(685-687)Cca>Tca p.P229S NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 229 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.P229A(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGATCCTCTGGGCCTCTGTCC 0.572000 36 38 0 0 0.853193 0 0 RAI1 10743 broad.mit.edu 37 17 17700963 17700963 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:17700963C>T ENST00000353383.1 + 3 5170 c.4701C>T c.(4699-4701)ccC>ccT p.P1567P RAI1_ENST00000261641.6_Silent_p.P1567P NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1567 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AGGTGCTGCCCCTGGATCCCG 0.637000 13 46 0 0 0.457914 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169132 50169132 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:50169132C>T ENST00000246785.3 + 1 310 c.52C>T c.(52-54)Cgg>Tgg p.R18W BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 18 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTGGGTTTCCGGCCAGAGGC 0.577000 6 34 0 0 0.248553 0 0 TRIM26 7726 broad.mit.edu 37 6 30164359 30164359 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:30164359G>A ENST00000454678.2 - 6 1135 c.699C>T c.(697-699)gcC>gcT p.A233A TRIM26_ENST00000453195.1_Silent_p.A233A|TRIM26_ENST00000437089.1_Silent_p.A233A NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 233 DNA binding|zinc ion binding lung(1)|ovary(2) 3 GGGCCAGCCGGGCAAGCTCCC 0.687000 32 47 0 0 0.804634 0 0 ZNF598 90850 broad.mit.edu 37 16 2049609 2049609 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:2049609G>A ENST00000563630.1 - 9 2018 c.1776C>T c.(1774-1776)ccC>ccT p.P592P ZNF598_ENST00000562103.1_Silent_p.P592P|ZNF598_ENST00000431526.1_Silent_p.P647P Q86UK7 ZN598_HUMAN zinc finger protein 598 647 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GGGGTTCCTTGGGGGCACTCC 0.716000 12 4 0 0 0.435327 0 0 FAM135B 51059 broad.mit.edu 37 8 139165196 139165196 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:139165196G>A ENST00000395297.1 - 13 1692 c.1522C>T c.(1522-1524)Caa>Taa p.Q508* NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 508 p.Q508*(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCTTTGTTTTGAAATTCACCA 0.438000 HNSCC(54;0.14) 32 81 0 0 0.812448 0 0 OR10J1 26476 broad.mit.edu 37 1 159409937 159409937 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:159409937G>A ENST00000423932.3 + 1 426 c.389G>A c.(388-390)gGa>gAa p.G130E RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 130 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) ACAGCAATGGGATATGACCGC 0.502000 69 23 0 0 0.870114 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12812271 12812271 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:12812271G>A ENST00000379672.5 + 4 556 c.256G>A c.(256-258)Gga>Aga p.G86R ARHGAP44_ENST00000340825.3_Missense_Mutation_p.G86R|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.G86R NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 86 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 AGCTATCCTGGGAGATGACAC 0.468000 49 160 0 0 0.870114 0 0 CADPS 8618 broad.mit.edu 37 3 62423880 62423880 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:62423880C>T ENST00000383710.4 - 28 4025 c.3676G>A c.(3676-3678)Ggg>Agg p.G1226R CADPS_ENST00000283269.9_Missense_Mutation_p.G1187R|CADPS_ENST00000357948.3_Missense_Mutation_p.G1147R NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1226 Mediates targeting and association with DCVs (By similarity). 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) ACGTCCATCCCGGGTTTCTGT 0.463000 14 25 0 0 0.435327 0 0 MYO1F 4542 broad.mit.edu 37 19 8606866 8606866 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:8606866C>T ENST00000338257.8 - 15 1801 c.1534G>A c.(1534-1536)Gac>Aac p.D512N NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 512 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.D512N(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CCGCTGACGTCGTAGGAGACC 0.612000 6 29 0 0 0.217242 0 0 TNRC6C 57690 broad.mit.edu 37 17 76083070 76083070 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:76083070C>T ENST00000335749.4 + 13 4258 c.3689C>T c.(3688-3690)tCg>tTg p.S1230L TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1233L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1230L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1233L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1233L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1230L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1233 Pro-rich. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GCAGGCAAATCGGCCATGGAC 0.657000 12 37 0 0 0.457914 0 0 DLL1 28514 broad.mit.edu 37 6 170594204 170594204 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:170594204G>A ENST00000366756.3 - 8 1385 c.1052C>T c.(1051-1053)tCc>tTc p.S351F NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 351 EGF-like 4; calcium-binding (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GCAGGTACAGGAGTAGCTGTT 0.562000 11 18 0 0 0.411799 0 0 QRICH1 54870 broad.mit.edu 37 3 49069662 49069662 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:49069662G>A ENST00000395443.2 - 9 2564 c.2092C>T c.(2092-2094)Cca>Tca p.P698S QRICH1_ENST00000357496.2_Missense_Mutation_p.P698S|QRICH1_ENST00000424300.1_Missense_Mutation_p.P698S NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 698 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CATCTCAATGGATTCTCTGGA 0.458000 32 35 0 0 0.847076 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891357 4891357 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:4891357G>A ENST00000381781.2 - 3 729 c.730C>T c.(730-732)Cgg>Tgg p.R244W NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 244 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) CTGTCCAGCCGAGACCGCCGC 0.592000 9 16 0 0 0.361761 0 0 APLP1 333 broad.mit.edu 37 19 36364607 36364607 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:36364607C>T ENST00000221891.4 + 8 1240 c.1048C>T c.(1048-1050)Ctg>Ttg p.L350L APLP1_ENST00000586861.1_Silent_p.L344L|APLP1_ENST00000537454.2_Silent_p.L311L NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 350 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGACAGGCCCTGAATGAGGT 0.587000 15 17 0 0 0.500413 0 0 NOS1 4842 broad.mit.edu 37 12 117768779 117768779 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:117768779C>T ENST00000317775.6 - 2 781 c.96G>A c.(94-96)gtG>gtA p.V32V NOS1_ENST00000344089.3_Silent_p.V32V|NOS1_ENST00000338101.4_Silent_p.V32V NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 32 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCCGCTCCTTCACCAGAAATC 0.552000 16 25 0 0 0.539581 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806033 97806033 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:97806033G>A ENST00000358642.2 + 1 17 c.17G>A c.(16-18)gGa>gAa p.G6E NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 ATATCAGAGGGAAATAAGACT 0.373000 51 91 0 0 0.870114 0 0 TRPM6 140803 broad.mit.edu 37 9 77343174 77343174 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:77343174G>A ENST00000451710.3 - 37 6165 c.5928C>T c.(5926-5928)tgC>tgT p.C1976C TRPM6_ENST00000360774.1_Silent_p.C1972C|TRPM6_ENST00000449912.2_Silent_p.C1967C|TRPM6_ENST00000376871.3_Silent_p.C809C|TRPM6_ENST00000376872.3_Silent_p.C927C|TRPM6_ENST00000361255.3_Silent_p.C1967C Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1972 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGAGCTTCCGGCAGCAGGAGT 0.403000 44 11 0 0 0.870114 0 0 MRPS23 51649 broad.mit.edu 37 17 55926750 55926750 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:55926750G>A ENST00000313608.8 - 2 111 c.66C>T c.(64-66)gcC>gcT p.A22A MRPS23_ENST00000578444.1_Silent_p.A22A NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 22 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) TCAGCACCCCGGCCCGAACCA 0.582000 13 31 0 0 0.435327 0 0 CORIN 10699 broad.mit.edu 37 4 47676496 47676496 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:47676496C>T ENST00000273857.4 - 10 1270 c.1271G>A c.(1270-1272)gGa>gAa p.G424E CORIN_ENST00000508498.1_Missense_Mutation_p.G285E|CORIN_ENST00000505909.1_Missense_Mutation_p.G387E|CORIN_ENST00000502252.1_Missense_Mutation_p.G357E|CORIN_ENST00000504584.1_Missense_Mutation_p.G387E NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 424 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TCTTTGGTCTCCTTCTTGACA 0.433000 45 15 0 0 0.870114 0 0 ZNF80 7634 broad.mit.edu 37 3 113955276 113955276 + Missense_Mutation SNP G G T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:113955276G>T ENST00000482457.2 - 1 1149 c.646C>A c.(646-648)Ccc>Acc p.P216T NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 216 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CACTCGTAGGGCTTTCCTGCA 0.493000 33 58 4.44401e-20 4.50842e-20 0.853193 1 0 CACNA1G 8913 broad.mit.edu 37 17 48649268 48649268 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:48649268G>A ENST00000352832.5 + 5 988 c.616G>A c.(616-618)Gat>Aat p.D206N CACNA1G_ENST00000515765.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.D206N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D206N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D206N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D206N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D206N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D206N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D206N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D206N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D206N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D206N NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 206 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GTTGCTGCTGGATACGCTGCC 0.647000 20 54 0 0 0.717897 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501427 90501427 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:90501427C>T ENST00000325643.5 + 4 2091 c.2025C>T c.(2023-2025)ctC>ctT p.L675L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 AGCAGGCCCTCTTGCCCTCCC 0.612000 14 8 0 0 0.479597 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762616 130762616 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:130762616C>T ENST00000392429.1 + 2 3427 c.1049C>T c.(1048-1050)tCc>tTc p.S350F TMEM200A_ENST00000545622.1_Missense_Mutation_p.S350F|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S350F NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 350 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) AGGAATAATTCCATTGGGGAG 0.522000 26 36 0 0 0.693898 0 0 WNK1 65125 broad.mit.edu 37 12 994397 994397 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:994397C>T ENST00000537687.1 + 19 5850 c.5207C>T c.(5206-5208)tCt>tTt p.S1736F WNK1_ENST00000535572.1_Missense_Mutation_p.S1229F|WNK1_ENST00000340908.4_Missense_Mutation_p.S1069F|WNK1_ENST00000530271.2_Missense_Mutation_p.S1974F|WNK1_ENST00000315939.6_Missense_Mutation_p.S1476F NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1476 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCTGTAGTATCTCAGCAGGCA 0.512000 24 44 0 0 0.693898 0 0 HK3 3101 broad.mit.edu 37 5 176308809 176308809 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:176308809G>A ENST00000292432.5 - 17 2368 c.2277C>T c.(2275-2277)atC>atT p.I759I NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 759 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTGGCGGACGATCTCCCCCA 0.567000 27 14 0 0 0.740014 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569051 11569051 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:11569051C>T ENST00000359227.3 - 5 962 c.538G>A c.(538-540)Gaa>Aaa p.E180K ELAVL3_ENST00000438662.2_Missense_Mutation_p.E180K NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 180 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 ATAGCCTCTTCGGCCTCAATC 0.597000 6 48 0 0 0.307466 0 0 OR11L1 391189 broad.mit.edu 37 1 248004539 248004539 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:248004539G>A ENST00000355784.2 - 1 715 c.660C>T c.(658-660)ttC>ttT p.F220F NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) AGGACACAATGAAAACATAGG 0.488000 29 8 0 0 0.740014 0 0 APCDD1 147495 broad.mit.edu 37 18 10471849 10471849 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:10471849C>T ENST00000355285.4 + 3 919 c.565C>T c.(565-567)Ctc>Ttc p.L189F APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 189 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) GGCCTATGACCTCTGGCGAGA 0.622000 38 76 0 0 0.859065 0 0 PTPRN 5798 broad.mit.edu 37 2 220155547 220155547 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:220155547C>T ENST00000295718.2 - 21 3035 c.e21+1 PTPRN_ENST00000409251.3_Splice_Site|PTPRN_ENST00000423636.2_Splice_Site|PTPRN_ENST00000497977.1_Splice_Site NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) AAGCTCCCTACCTTTTGCCAT 0.587000 16 76 0 0 0.557998 0 0 NPAP1 23742 broad.mit.edu 37 15 24922455 24922455 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:24922455G>A ENST00000329468.2 + 1 1915 c.1441G>A c.(1441-1443)Gga>Aga p.G481R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TAATGAGAAAGGAGGCTCTTA 0.498000 34 118 0 0 0.796494 0 0 IGHV1-45 28466 broad.mit.edu 37 14 106963025 106963025 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:106963025C>T ENST00000390621.2 - 0 314 AATGGTGACTCTGTCCTGGAA 0.527000 61 37 0 0 0.870114 0 0 PRR12 57479 broad.mit.edu 37 19 50118189 50118189 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:50118189C>T ENST00000418929.2 + 8 4959 c.4947C>T c.(4945-4947)ttC>ttT p.F1649F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 828 DNA binding p.F829F(1)|p.F1649F(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) ATGTAAAGTTCCTGGAAAATG 0.512000 18 14 0 0 0.575678 0 0 SERPINI2 5276 broad.mit.edu 37 3 167167187 167167187 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:167167187G>A ENST00000476257.1 - 8 1266 c.968C>T c.(967-969)tCa>tTa p.S323L SERPINI2_ENST00000461846.1_Missense_Mutation_p.S323L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S323L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S323L O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 323 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CACTTCAGATGAATCTGGTTA 0.294000 6 8 0 0 0.217242 0 0 KSR1 8844 broad.mit.edu 37 17 25936329 25936329 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:25936329G>A ENST00000398988.3 + 18 2299 c.1854G>A c.(1852-1854)ggG>ggA p.G618G KSR1_ENST00000268763.6_Silent_p.G618G|KSR1_ENST00000509603.2_Silent_p.G733G|KSR1_ENST00000319524.6_Silent_p.G755G NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 753 Protein kinase. Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGCTGTTTGGGATCTCAGGCG 0.537000 87 96 0 0 0.870114 0 0 ACSM4 341392 broad.mit.edu 37 12 7480886 7480886 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:7480886G>A ENST00000399422.4 + 13 1708 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 554 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CAATTAGGTGGAATTTGTTCA 0.398000 3 2 0 0 0.115264 0 0 SEMA4B 10509 broad.mit.edu 37 15 90768389 90768389 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:90768389G>A ENST00000411539.2 + 10 1644 c.1384G>A c.(1384-1386)Gat>Aat p.D462N SEMA4B_ENST00000332496.6_Missense_Mutation_p.D462N|SEMA4B_ENST00000379122.3_Missense_Mutation_p.D457N NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CCACACCTACGATGTCCTCTT 0.672000 7 2 0 0 0.278610 0 0 SHPRH 257218 broad.mit.edu 37 6 146262942 146262942 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:146262942G>A ENST00000367503.3 - 10 2705 c.2307C>T c.(2305-2307)atC>atT p.I769I SHPRH_ENST00000275233.7_Silent_p.I769I|SHPRH_ENST00000438092.2_Silent_p.I769I|SHPRH_ENST00000367505.2_Silent_p.I769I NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 769 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CATAGGTAATGATAACTATAT 0.393000 10 21 0 0 0.387290 0 0 ATG13 9776 broad.mit.edu 37 11 46685607 46685607 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:46685607C>T ENST00000528494.1 + 11 1154 c.850C>T c.(850-852)Ctg>Ttg p.L284L ATG13_ENST00000526508.1_Intron|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000434074.1_Intron|ATG13_ENST00000359513.4_Intron|ATG13_ENST00000312040.4_Intron|ATG13_ENST00000451945.1_Intron|ATG13_ENST00000529655.1_Intron NM_001205119.1 NP_001192048.1 O75143 ATG13_HUMAN autophagy related 13 262 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 GACGGACACCCTGAGGGTCCC 0.453000 50 118 0 0 0.870114 0 0 DAGLA 747 broad.mit.edu 37 11 61503050 61503050 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:61503050C>T ENST00000257215.5 + 11 1262 c.1146C>T c.(1144-1146)ttC>ttT p.F382F NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 382 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) AAACGCCCTTCTACGTGGCGG 0.637000 22 4 0 0 0.693898 0 0 ECT2L 345930 broad.mit.edu 37 6 139167687 139167687 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:139167687C>T ENST00000423192.1 + 7 937 c.776C>T c.(775-777)tCt>tTt p.S259F ECT2L_ENST00000367682.2_Missense_Mutation_p.S259F|ECT2L_ENST00000541398.1_Missense_Mutation_p.S190F Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 259 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 AGCAATATTTCTGGAAGCCAT 0.368000 """N, Splice, Mis""" ETP ALL 10 26 0 0 0.335167 0 0 FGF14 2259 broad.mit.edu 37 13 102379096 102379096 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:102379096G>A ENST00000376131.4 - 4 583 c.488C>T c.(487-489)tCa>tTa p.S163L FGF14_ENST00000376143.4_Missense_Mutation_p.S158L NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 158 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CAACATGGATGAGTAGATTAC 0.358000 12 11 0 0 0.435327 0 0 DHX57 90957 broad.mit.edu 37 2 39055483 39055483 + Splice_Site SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:39055483G>A ENST00000295373.6 - 14 2764 c.2639_splice c.e14+1 p.R880_splice NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 880 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TTAGCTTACCGATTACTACGT 0.388000 24 20 0 0 0.667858 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 91 42 0 0 0.870114 0 0 OPN1SW 611 broad.mit.edu 37 7 128413867 128413867 + Missense_Mutation SNP C C T rs138093200 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:128413867C>T ENST00000249389.2 - 4 762 c.763G>A c.(763-765)Gta>Ata p.V255I NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 255 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 AAGGATCCTACCATCACAACC 0.577000 19 29 0 0 0.575678 0 0 CD207 50489 broad.mit.edu 37 2 71060134 71060134 + Missense_Mutation SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:71060134T>A ENST00000410009.3 - 4 659 c.614A>T c.(613-615)aAc>aTc p.N205I NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 205 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GTAATAGAAGTTCCCCTTGAA 0.448000 24 16 0 0 0.693898 0 0 LEKR1 389170 broad.mit.edu 37 3 156763413 156763413 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:156763413G>A ENST00000470811.1 + 14 2376 c.1041G>A c.(1039-1041)ccG>ccA p.P347P LEKR1_ENST00000356539.4_Silent_p.P651P D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 0 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAGATAAGCCGAAGAGGGTTA 0.532000 71 70 0 0 0.870114 0 0 IER5L 389792 broad.mit.edu 37 9 131939648 131939648 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:131939648G>A ENST00000372491.2 - 1 892 c.684C>T c.(682-684)gcC>gcT p.A228A RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA NM_203434.2 NP_982258.2 Q5T953 IER5L_HUMAN immediate early response 5-like 228 Ala-rich. Ovarian(14;0.0448)|Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) aggaggcgggggccggggagg 0.771000 15 5 0 0 0.557998 0 0 NOS3 4846 broad.mit.edu 37 7 150698379 150698379 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:150698379G>A ENST00000297494.3 + 11 1651 c.1294G>A c.(1294-1296)Gag>Aag p.E432K NOS3_ENST00000461406.1_Missense_Mutation_p.E226K|NOS3_ENST00000467517.1_Missense_Mutation_p.E432K|NOS3_ENST00000484524.1_Missense_Mutation_p.E432K NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 432 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GAAGCACCTGGAGAATGAGCA 0.622000 47 65 0 0 0.870114 0 0 DLGAP1 9229 broad.mit.edu 37 18 3581882 3581882 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:3581882G>A ENST00000315677.3 - 8 2551 c.1956C>T c.(1954-1956)atC>atT p.I652I DLGAP1_ENST00000584874.1_Silent_p.I652I|DLGAP1_ENST00000581699.1_Silent_p.I358I|DLGAP1_ENST00000515196.2_Silent_p.I652I|DLGAP1_ENST00000534970.1_Silent_p.I336I|DLGAP1_ENST00000400155.1_Silent_p.I358I|DLGAP1_ENST00000581527.1_Silent_p.I652I|DLGAP1_ENST00000400150.3_Silent_p.I368I|DLGAP1_ENST00000400149.3_Silent_p.I342I|DLGAP1_ENST00000400145.2_Silent_p.I350I|DLGAP1_ENST00000539435.1_Silent_p.I360I|DLGAP1_ENST00000400147.2_Silent_p.I350I NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 652 Interaction with DYL2 (By similarity). synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CCTGTATCCCGATAGACAGGC 0.458000 24 43 0 0 0.740014 0 0 RFX6 222546 broad.mit.edu 37 6 117243285 117243285 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:117243285G>A ENST00000332958.2 + 13 1424 c.1408G>A c.(1408-1410)Gat>Aat p.D470N NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 470 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGAATGGTTGGATACTGTGGT 0.343000 17 32 0 0 0.624587 0 0 COL4A1 1282 broad.mit.edu 37 13 110813568 110813568 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:110813568C>T ENST00000375820.4 - 49 4732 c.4611G>A c.(4609-4611)acG>acA p.T1537T COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1537 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TGTTTTCCCCCGTGATGGGTG 0.448000 3 48 0 0 0.184627 0 0 CHRNA3 1136 broad.mit.edu 37 15 78909424 78909424 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:78909424C>T ENST00000326828.5 - 4 703 c.319G>A c.(319-321)Gag>Aag p.E107K CHRNA3_ENST00000348639.3_Missense_Mutation_p.E107K NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 107 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CGCATGAACTCTGCCCCACCA 0.552000 8 33 0 0 0.387290 0 0 NECAP1 25977 broad.mit.edu 37 12 8245546 8245546 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:8245546C>T ENST00000339754.5 + 6 649 c.571C>T c.(571-573)Cca>Tca p.P191S NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 191 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) CCCACCCCCGCCAGGAGGCAA 0.512000 121 152 0 0 0.870114 0 0 ZNF714 148206 broad.mit.edu 37 19 21300028 21300028 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:21300028C>T ENST00000596143.1 + 5 883 c.558C>T c.(556-558)acC>acT p.T186T ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 GGTTCTCAACCCTTACTAGAC 0.368000 23 31 0 0 0.667858 0 0 IFT57 55081 broad.mit.edu 37 3 107940986 107940986 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:107940986G>A ENST00000264538.3 - 1 431 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 homolog (Chlamydomonas) 62 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 14 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTGCTCTTCCGGAGGAACTCC 0.682000 5 8 0 0 0.248553 0 0 GPR64 10149 broad.mit.edu 37 X 19028764 19028764 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:19028764G>A ENST00000354791.3 - 16 1425 c.1184C>T c.(1183-1185)tCc>tTc p.S395F GPR64_ENST00000340581.3_Missense_Mutation_p.S381F|GPR64_ENST00000356606.4_Missense_Mutation_p.S397F|GPR64_ENST00000357991.3_Missense_Mutation_p.S408F|GPR64_ENST00000379869.3_Missense_Mutation_p.S411F|GPR64_ENST00000379873.2_Missense_Mutation_p.S411F|GPR64_ENST00000379876.1_Missense_Mutation_p.S387F|GPR64_ENST00000379878.3_Missense_Mutation_p.S395F|GPR64_ENST00000357544.3_Missense_Mutation_p.S381F|GPR64_ENST00000360279.4_Missense_Mutation_p.S389F Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 411 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GTCAGGCGGGGAATGAAGGAG 0.537000 11 92 0 0 0.520397 0 0 ADAM28 10863 broad.mit.edu 37 8 24188792 24188792 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:24188792G>A ENST00000265769.4 + 12 1343 c.1233G>A c.(1231-1233)ggG>ggA p.G411G RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.G178G|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Silent_p.G158G|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.G411G|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 411 Disintegrin. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAATTTGTGGGAACCAGTTGG 0.408000 16 30 0 0 0.557998 0 0 UHRF1 29128 broad.mit.edu 37 19 4954832 4954832 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:4954832C>T ENST00000592666.1 + 0 2704 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) AGCGGCAGCCCGGTAGGCTCG 0.597000 7 26 0 0 0.387290 0 0 OPLAH 26873 broad.mit.edu 37 8 145112555 145112555 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:145112555G>A ENST00000426825.1 - 10 1299 c.1218C>T c.(1216-1218)ttC>ttT p.F406F OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 406 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AAATGCAGGGGAAGGAGGCAG 0.642000 4 35 0 0 0.217242 0 0 SDR16C5 195814 broad.mit.edu 37 8 57218206 57218206 + Silent SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:57218206T>C ENST00000396721.2 - 5 784 c.654A>G c.(652-654)aaA>aaG p.K218K SDR16C5_ENST00000522671.1_Silent_p.K262K|SDR16C5_ENST00000303749.3_Silent_p.K262K Q8N3Y7 RDHE2_HUMAN short chain dehydrogenase/reductase family 16C, member 5 262 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 ACAAGTACATTTTTTCTTGTA 0.318000 17 17 0 0 0.592651 0 0 C20orf96 140680 broad.mit.edu 37 20 259840 259840 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:259840G>A ENST00000360321.2 - 5 576 c.438C>T c.(436-438)gcC>gcT p.A146A C20orf96_ENST00000400269.3_Silent_p.A88A|C20orf96_ENST00000382369.5_Silent_p.A111A NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 146 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GCTGCAGCAGGGCCCGCACGT 0.677000 7 37 0 0 0.361761 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555079 44555079 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:44555079C>T ENST00000330682.2 - 1 1370 c.1135G>A c.(1135-1137)Gag>Aag p.E379K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 379 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 TTGTCTTTCTCTGTGCGGTAC 0.557000 20 803 0 0 0.575678 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854670 18854670 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:18854670C>T ENST00000447925.2 - 8 1168 c.899G>A c.(898-900)gGa>gAa p.G300E PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G107E|PLCZ1_ENST00000541695.1_Missense_Mutation_p.G165E|PLCZ1_ENST00000538330.1_Missense_Mutation_p.G43E|PLCZ1_ENST00000539875.1_Missense_Mutation_p.G109E|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G302E NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 302 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CTTTAAGGTTCCTATTTTCTT 0.363000 4 6 0 0 0.248553 0 0 OR1J1 347168 broad.mit.edu 37 9 125239735 125239735 + Silent SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:125239735A>C ENST00000259357.2 - 1 500 c.471T>G c.(469-471)ctT>ctG p.L157L NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GGGTATGCAAAAGAGCACACG 0.547000 10 5 0 0 0.387290 0 0 POF1B 79983 broad.mit.edu 37 X 84537226 84537226 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:84537226C>T ENST00000262753.4 - 16 1892 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K POF1B_ENST00000373145.3_Missense_Mutation_p.E583K NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 583 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TATTTGTCTTCTGTTTTCTCA 0.358000 5 23 0 0 0.307466 0 0 DYNAP 284254 broad.mit.edu 37 18 52265112 52265112 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:52265112G>A ENST00000321600.1 + 3 415 c.369G>A c.(367-369)gtG>gtA p.V123V DYNAP_ENST00000585973.1_Silent_p.V71V NM_173629.1 NP_775900.1 dynactin associated protein TAGCCTGTGTGATAATGACAG 0.383000 31 52 0 0 0.827153 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698178 111698178 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:111698178C>T ENST00000340433.2 + 1 452 c.222C>T c.(220-222)ttC>ttT p.F74F NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 74 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCTCAGAGTTCCTCACTCAGG 0.483000 22 19 0 0 0.706142 0 0 HERC6 55008 broad.mit.edu 37 4 89326115 89326115 + Nonsense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:89326115A>T ENST00000380265.5 + 9 1363 c.1180A>T c.(1180-1182)Aaa>Taa p.K394* HERC6_ENST00000264346.7_Nonsense_Mutation_p.K394* NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 394 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GATAGCAGTGAAAAGAAGAAG 0.433000 20 35 0 0 0.706142 0 0 ICAM2 3384 broad.mit.edu 37 17 62081230 62081230 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:62081230G>A ENST00000412356.1 - 5 777 c.423C>T c.(421-423)ccC>ccT p.P141P ICAM2_ENST00000418105.1_Silent_p.P141P|ICAM2_ENST00000578892.1_Silent_p.P117P|ICAM2_ENST00000578379.1_Silent_p.P40P|ICAM2_ENST00000449662.2_Silent_p.P141P|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Silent_p.P141P|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Silent_p.P141P NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 141 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 GGCTGTCCAGGGGCTCCACGG 0.612000 26 19 0 0 0.750413 0 0 FAM63A 55793 broad.mit.edu 37 1 150971967 150971967 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:150971967G>A ENST00000361936.5 - 8 1813 c.859C>T c.(859-861)Ctg>Ttg p.L287L FAM63A_ENST00000493834.2_Silent_p.L192L|FAM63A_ENST00000361738.6_Silent_p.L335L|FAM63A_ENST00000312210.5_Silent_p.L145L|FAM63A_ENST00000470877.1_5'UTR NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN family with sequence similarity 63, member A 287 L -> P (in Ref. 2; BAA92104). protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 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) GTGGTCTCCAGGAACTGCTCT 0.557000 142 33 0 0 0.870114 0 0 CYTIP 9595 broad.mit.edu 37 2 158272620 158272620 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:158272620C>T ENST00000264192.3 - 8 770 c.649G>A c.(649-651)Gac>Aac p.D217N CYTIP_ENST00000540637.1_Missense_Mutation_p.D111N NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 217 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TCATCCAAGTCCATGTTTTCC 0.473000 19 16 0 0 0.639603 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450224 105450224 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:105450224G>A ENST00000337685.2 + 5 1584 c.799G>A c.(799-801)Gct>Act p.A267T MUM1L1_ENST00000372552.1_Missense_Mutation_p.A267T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A267T NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 267 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGAGACCCTGGCTGTTCCCTC 0.463000 10 5 0 0 0.435327 0 0 C1orf168 199920 broad.mit.edu 37 1 57258315 57258315 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:57258315G>A ENST00000343433.6 - 2 251 c.171C>T c.(169-171)tcC>tcT p.S57S C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 57 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GCTTGTGGTTGGATGAGAGGG 0.458000 69 29 0 0 0.870114 0 0 RPS20 6224 broad.mit.edu 37 8 56985774 56985774 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:56985774G>A ENST00000519807.1 - 4 360 c.235C>T c.(235-237)Cgt>Tgt p.R79C RPS20_ENST00000520627.1_Missense_Mutation_p.R24C|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000009589.3_Missense_Mutation_p.R79C|RPS20_ENST00000521262.1_Missense_Mutation_p.R79C|RPS20_ENST00000523936.1_3'UTR|RPS20_ENST00000524349.1_Missense_Mutation_p.R24C|RPS20_ENST00000520490.1_5'UTR NM_001146227.1 NP_001139699.1 P60866 RS20_HUMAN ribosomal protein S20 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome p.R79C(1) all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) ATCTGGAAACGATCCCACGTC 0.398000 39 49 0 0 0.870114 0 0 TNS4 84951 broad.mit.edu 37 17 38640799 38640799 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:38640799G>A ENST00000254051.6 - 6 1596 c.1438C>T c.(1438-1440)Cga>Tga p.R480* NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 480 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) AAGGAGCCTCGGTATGAAGAG 0.582000 5 11 0 0 0.248553 0 0 USH2A 7399 broad.mit.edu 37 1 216166467 216166467 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:216166467C>T ENST00000366943.2 - 35 7086 c.6700G>A c.(6700-6702)Gcc>Acc p.A2234T USH2A_ENST00000307340.3_Missense_Mutation_p.A2234T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2234 Fibronectin type-III 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAGTTAGGGCCTCACTGGCC 0.507000 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 16 0 0 0.870114 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789911 6789911 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:6789911G>A ENST00000338569.2 - 1 375 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCCTCCAAAGGAGATAGTGTT 0.537000 36 10 0 0 0.812448 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024677 55024677 + Missense_Mutation SNP G G A rs145545626 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:55024677G>A ENST00000324000.3 + 3 2870 c.836G>A c.(835-837)gGa>gAa p.G279E NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 279 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.G279E(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GCTTGGCCGGGAAATATAATG 0.408000 40 58 0 0 0.870114 0 0 DNAH5 1767 broad.mit.edu 37 5 13769652 13769652 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:13769652C>T ENST00000265104.4 - 57 9782 c.9678G>A c.(9676-9678)gcG>gcA p.A3226A DNAH5_ENST00000504001.3_5'UTR NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3226 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) CCTTTTCTTTCGCTTCCAGTT 0.433000 Kartagener syndrome 24 43 0 0 0.750413 0 0 GHR 2690 broad.mit.edu 37 5 42719517 42719517 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:42719517C>T ENST00000230882.4 + 10 2098 c.1908C>T c.(1906-1908)atC>atT p.I636I GHR_ENST00000537449.1_Silent_p.I449I|GHR_ENST00000357703.3_Silent_p.I614I 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 636 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) TGAACAAAATCATGCCTTAGC 0.433000 45 17 0 0 0.870114 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87165108 87165108 + Missense_Mutation SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:87165108A>C ENST00000285393.3 + 8 1097 c.955A>C c.(955-957)Aag>Cag p.K319Q CTD-3118D11.2_ENST00000522679.1_RNA NM_152565.1 NP_689778.1 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 319 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1) 27 TGCATATGTAAAGCTGAAGGA 0.353000 29 81 0 0 0.812448 0 0 TBC1D23 55773 broad.mit.edu 37 3 100002625 100002625 + Missense_Mutation SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:100002625T>A ENST00000394144.4 + 4 453 c.446T>A c.(445-447)tTt>tAt p.F149Y TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.F149Y NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 149 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 TACAACTGCTTTTATGCCATA 0.358000 39 63 0 0 0.870114 0 0 TLR7 51284 broad.mit.edu 37 X 12905625 12905625 + Silent SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:12905625T>C ENST00000380659.3 + 3 2137 c.1998T>C c.(1996-1998)ccT>ccC p.P666P NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 666 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GTTTCTTGCCTTCTGGAGTTT 0.348000 22 21 0 0 0.654019 0 0 KCNH8 131096 broad.mit.edu 37 3 19575158 19575158 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:19575158C>T ENST00000328405.2 + 16 3157 c.2891C>T c.(2890-2892)tCc>tTc p.S964F NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 964 Ser-rich. integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GTGGATCCCTCCTCTGTGGGG 0.502000 42 57 0 0 0.870114 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040965 147040965 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:147040965A>G ENST00000265272.5 - 3 640 c.173T>C c.(172-174)aTt>aCt p.I58T JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I16T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I58T NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 58 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCTCACGAATCCTCTTCGC 0.502000 39 16 0 0 0.870114 0 0 KRT4 3851 broad.mit.edu 37 12 53207481 53207481 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:53207481G>A ENST00000551956.1 - 1 854 c.362C>T c.(361-363)cCc>cTc p.P121L KRT4_ENST00000458244.2_Missense_Mutation_p.P101L|KRT4_ENST00000293774.4_Missense_Mutation_p.P195L B4DRS2 B4DRS2_HUMAN keratin 4 121 keratin filament structural molecule activity endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2) 29 CACGTGGAGGGGGGTGAGCAA 0.582000 40 40 0 0 0.864702 0 0 GFM1 85476 broad.mit.edu 37 3 158376735 158376735 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:158376735T>C ENST00000486715.1 + 9 1465 c.1108T>C c.(1108-1110)Tat>Cat p.Y370H GFM1_ENST00000478576.1_Missense_Mutation_p.Y370H|GFM1_ENST00000264263.5_Missense_Mutation_p.Y389H NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 370 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) ACAATTAACTTATGTTCGCAG 0.408000 27 30 0 0 0.779181 0 0 BIRC6 57448 broad.mit.edu 37 2 32640294 32640294 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:32640294C>T ENST00000421745.2 + 10 2069 c.1935C>T c.(1933-1935)atC>atT p.I645I NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 645 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) CAGGAAAGATCTTTTCACAGA 0.378000 11 18 0 0 0.457914 0 0 TUBE1 51175 broad.mit.edu 37 6 112393216 112393216 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:112393216G>A ENST00000368662.5 - 11 1236 c.1158C>T c.(1156-1158)tcC>tcT p.S386S TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 386 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) CAGGAGGTACGGAACACAGGC 0.413000 27 46 0 0 0.827153 0 0 COL22A1 169044 broad.mit.edu 37 8 139824127 139824127 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:139824127G>A ENST00000303045.6 - 9 1810 c.1364C>T c.(1363-1365)cCc>cTc p.P455L COL22A1_ENST00000435777.1_Missense_Mutation_p.P455L NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 455 Pro-rich. 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) CTGGGGTGGGGGTGGAGGTGG 0.597000 HNSCC(7;0.00092) 11 2 0 0 0.435327 0 0 SHBG 6462 broad.mit.edu 37 17 7535056 7535056 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:7535056C>T ENST00000380450.4 + 5 736 c.705C>T c.(703-705)ttC>ttT p.F235F SHBG_ENST00000340624.5_Silent_p.F177F|SHBG_ENST00000574539.1_Silent_p.F177F|SHBG_ENST00000572262.1_Silent_p.F123F|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576728.1_Silent_p.F123F|SHBG_ENST00000575903.1_Silent_p.F217F|SHBG_ENST00000416273.3_Silent_p.F235F|SHBG_ENST00000576478.1_Silent_p.F123F|SHBG_ENST00000575314.1_Silent_p.F177F|SHBG_ENST00000441599.2_Silent_p.F235F|SHBG_ENST00000570547.1_Silent_p.F177F NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 235 Laminin G-like 2. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) AGGCAGAATTCAATCTCCGAG 0.547000 110 98 0 0 0.870114 0 0 PCED1B 91523 broad.mit.edu 37 12 47629014 47629014 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:47629014C>T ENST00000546455.1 + 4 899 c.168C>T c.(166-168)ttC>ttT p.F56F PCED1B_ENST00000432328.1_Silent_p.F56F PC-esterase domain containing 1B AGCTGAACTTCGAACAAGATG 0.602000 13 26 0 0 0.435327 0 0 LRRC16A 55604 broad.mit.edu 37 6 25610296 25610296 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:25610296C>T ENST00000329474.6 + 36 4234 c.3866C>T c.(3865-3867)cCa>cTa p.P1289L NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 1289 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CCAGACTCTCCATCTAGCCCG 0.458000 30 159 0 0 0.812448 0 0 ING1 3621 broad.mit.edu 37 13 111371712 111371712 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:111371712C>T ENST00000375774.3 + 2 1164 c.702C>T c.(700-702)atC>atT p.I234I ING1_ENST00000375775.3_Silent_p.I22I|ING1_ENST00000338450.7_Silent_p.I47I|ING1_ENST00000333219.7_Silent_p.I91I|ING1_ENST00000464141.1_3'UTR NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 234 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) AGATCCAGATCGTGAGCCAGA 0.672000 37 28 0 0 0.864702 0 0 SPATA5 166378 broad.mit.edu 37 4 124235123 124235123 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:124235123C>T ENST00000274008.3 + 16 2655 c.2586C>T c.(2584-2586)ttC>ttT p.F862F NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 862 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AAAGACATTTCACTCAGGCCT 0.408000 24 6 0 0 0.667858 0 0 TTN 7273 broad.mit.edu 37 2 179547505 179547505 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:179547505G>A ENST00000589042.1 - 135 33237 c.33013C>T c.(33013-33015)Cca>Tca p.P11005S TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9761S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10688S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10688 Glu-rich.|Pro-rich. 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) TCTTCTGTTGGTTCATACTCC 0.368000 72 69 0 0 0.870114 0 0 FAM166A 401565 broad.mit.edu 37 9 140139596 140139596 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:140139596G>A ENST00000344774.4 - 4 651 c.597C>T c.(595-597)ttC>ttT p.F199F FAM166A_ENST00000388932.2_Silent_p.F199F NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 199 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 GCAGCCGCTGGAAGCTGCCCA 0.677000 31 12 0 0 0.779181 0 0 SULT1A1 6817 broad.mit.edu 37 16 28631441 28631441 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:28631441G>A ENST00000350842.4 - 2 469 c.81C>T c.(79-81)ctC>ctT p.L27L SULT1A1_ENST00000395609.1_5'UTR NM_177536.3 NP_803880.1 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 0 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 CCTTTCCCTGGAGAATGCTCA 0.338000 10 12 0 0 0.435327 0 0 LRP1B 53353 broad.mit.edu 37 2 141072531 141072531 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:141072531C>T ENST00000389484.3 - 83 13749 c.12778G>A c.(12778-12780)Gga>Aga p.G4260R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4260 EGF-like 11. 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) CAAGTTCCTCCATTCTGGCAG 0.363000 TSP Lung(27;0.18) 14 53 0 0 0.539581 0 0 CYP3A4 1576 broad.mit.edu 37 7 99367835 99367835 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:99367835C>T ENST00000336411.2 - 5 525 c.342G>A c.(340-342)atG>atA p.M114I CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 114 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TGGCACTTTTCATAAATCCCA 0.408000 24 38 0 0 0.729181 0 0 PARK2 5071 broad.mit.edu 37 6 161781175 161781175 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:161781175G>A ENST00000366898.1 - 11 1332 c.1230C>T c.(1228-1230)acC>acT p.T410T PARK2_ENST00000366897.1_Silent_p.T382T|PARK2_ENST00000338468.3_Silent_p.T219T|PARK2_ENST00000366894.1_Silent_p.T219T|PARK2_ENST00000366896.1_Silent_p.T261T NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 410 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TTTTCTTGATGGTTTCTTTGG 0.517000 28 46 0 0 0.729181 0 0 LAMA1 284217 broad.mit.edu 37 18 6966156 6966156 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:6966156G>A ENST00000389658.3 - 49 7133 c.7040C>T c.(7039-7041)tCa>tTa p.S2347L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2347 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTGCCGTATGAACCCAGGTA 0.428000 11 18 0 0 0.500413 0 0 EPHA7 2045 broad.mit.edu 37 6 94120594 94120594 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:94120594C>T ENST00000369303.4 - 3 641 c.457G>A c.(457-459)Gaa>Aaa p.E153K EPHA7_ENST00000369297.1_Missense_Mutation_p.E153K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 153 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTAAAACTTTCATCTGCAGCA 0.373000 17 31 0 0 0.575678 0 0 PDLIM5 10611 broad.mit.edu 37 4 95583616 95583616 + Silent SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:95583616T>C ENST00000317968.4 + 12 1765 c.1629T>C c.(1627-1629)ttT>ttC p.F543F PDLIM5_ENST00000437932.1_Silent_p.F434F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Silent_p.F421F|PDLIM5_ENST00000514743.1_Silent_p.F572F NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 543 LIM zinc-binding 3. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GATGTGAATTTCCCATAGAAG 0.388000 43 23 0 0 0.870114 0 0 LARP4B 23185 broad.mit.edu 37 10 859098 859098 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:859098G>A ENST00000316157.3 - 17 2025 c.1985C>T c.(1984-1986)cCt>cTt p.P662L NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 662 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 TGGGGAAGAAGGAGGCTCTTT 0.498000 16 5 0 0 0.520397 0 0 CSF2RB 1439 broad.mit.edu 37 22 37319396 37319396 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:37319396C>T ENST00000262825.5 + 3 404 c.187C>T c.(187-189)Cgc>Tgc p.R63C CSF2RB_ENST00000403662.3_Missense_Mutation_p.R63C|CSF2RB_ENST00000406230.1_Missense_Mutation_p.R63C NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 63 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GACCCTCATTCGCCGGGTGAA 0.652000 8 16 0 0 0.307466 0 0 CDH4 1002 broad.mit.edu 37 20 60348129 60348129 + Missense_Mutation SNP C C T rs145462500 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:60348129C>T ENST00000360469.5 + 4 555 c.467C>T c.(466-468)cCc>cTc p.P156L CDH4_ENST00000543233.1_Missense_Mutation_p.P82L NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 156 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CTGCCGTGGCCCCAGCACCAG 0.652000 8 10 0 0 0.335167 0 0 SMARCA2 6595 broad.mit.edu 37 9 2181573 2181573 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:2181573C>T ENST00000382203.1 + 30 4465 c.4256C>T c.(4255-4257)tCa>tTa p.S1419L SMARCA2_ENST00000324954.5_Missense_Mutation_p.S65L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.S1401L|SMARCA2_ENST00000302401.3_Missense_Mutation_p.S107L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S1401L|SMARCA2_ENST00000382186.1_Missense_Mutation_p.S83L|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S1419L|SMARCA2_ENST00000382185.1_Missense_Mutation_p.S65L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1419 Bromo. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TCCTACAGTTCAGGGCGACAG 0.333000 20 9 0 0 0.624587 0 0 DUOX2 50506 broad.mit.edu 37 15 45398521 45398521 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:45398521C>T ENST00000389039.6 - 17 2335 c.1950G>A c.(1948-1950)atG>atA p.M650I DUOX2_ENST00000603300.1_Missense_Mutation_p.M650I Q9NRD8 DUOX2_HUMAN dual oxidase 2 650 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTGGCCACTCCATCGCTGGGG 0.592000 15 37 0 0 0.539581 0 0 TICRR 90381 broad.mit.edu 37 15 90119080 90119080 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:90119080C>T ENST00000268138.7 + 1 368 c.263C>T c.(262-264)gCc>gTc p.A88V TICRR_ENST00000560985.1_Missense_Mutation_p.A88V|RP11-429B14.1_ENST00000559041.1_RNA TOPBP1-interacting checkpoint and replication regulator GAGGATCGCGCCCACCTGCCC 0.731000 6 5 0 0 0.307466 0 0 IFNA14 3448 broad.mit.edu 37 9 21239422 21239422 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:21239422G>A ENST00000380222.2 - 1 556 c.513C>T c.(511-513)atC>atT p.I171I NM_002172.2 NP_002163.2 P01570 IFN14_HUMAN interferon, alpha 14 171 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7) 11 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGGATCTCATGATTTCTGCTC 0.393000 156 101 0 0 0.870114 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795125 100795125 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:100795125G>A ENST00000361529.3 + 5 468 c.390G>A c.(388-390)caG>caA p.Q130Q SLC25A47_ENST00000557052.1_5'UTR NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 130 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 CACAGGCGCAGAAGCAGCAGC 0.677000 20 5 0 0 0.624587 0 0 CGNL1 84952 broad.mit.edu 37 15 57730212 57730212 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:57730212C>T ENST00000281282.5 + 2 93 c.15C>T c.(13-15)ttC>ttT p.F5F NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 5 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) AGCTGTATTTCGGTGAATATC 0.438000 148 167 0 0 0.870114 0 0 BRPF3 27154 broad.mit.edu 37 6 36177996 36177996 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:36177996C>T ENST00000357641.6 + 6 2123 c.1870C>T c.(1870-1872)Cca>Tca p.P624S BRPF3_ENST00000339717.7_Missense_Mutation_p.P624S|BRPF3_ENST00000543502.1_Missense_Mutation_p.P624S|BRPF3_ENST00000534694.1_Missense_Mutation_p.P624S|BRPF3_ENST00000443324.2_Missense_Mutation_p.P624S|BRPF3_ENST00000534400.1_Missense_Mutation_p.P624S NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 624 Bromo. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 TGTTTAGGTTCCAGATTACCT 0.438000 8 13 0 0 0.361761 0 0 GLTPD1 80772 broad.mit.edu 37 1 1262675 1262675 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:1262675C>T ENST00000343938.4 + 3 588 c.177C>T c.(175-177)tcC>tcT p.S59S GLTPD1_ENST00000464957.1_3'UTR NM_001029885.1 NP_001025056.1 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 59 cytoplasm glycolipid binding|glycolipid transporter activity lung(1) 1 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) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGTGGTCTCCAAGCTGCGGA 0.662000 20 7 0 0 0.667858 0 0 GPATCH2 55105 broad.mit.edu 37 1 217665071 217665071 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:217665071G>A ENST00000366935.3 - 8 1338 c.1228C>T c.(1228-1230)Cga>Tga p.R410* GPATCH2_ENST00000489246.2_5'UTR NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 410 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) CTTTCAGCTCGATTATCTCTC 0.313000 50 23 0 0 0.870114 0 0 TSGA13 114960 broad.mit.edu 37 7 130364146 130364146 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:130364146C>T ENST00000456951.1 - 6 1085 c.234G>A c.(232-234)agG>agA p.R78R TSGA13_ENST00000356588.3_Silent_p.R78R Q96PP4 TSG13_HUMAN testis specific, 13 78 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TGGTGTTTTTCCTGTTTTGAG 0.448000 14 10 0 0 0.457914 0 0 SPAG17 200162 broad.mit.edu 37 1 118598459 118598459 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:118598459C>T ENST00000336338.5 - 19 2684 c.2619G>A c.(2617-2619)atG>atA p.M873I NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 873 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTTCTCATTCATTTTAGATT 0.328000 29 10 0 0 0.706142 0 0 KCNK15 60598 broad.mit.edu 37 20 43374695 43374695 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:43374695C>T ENST00000372861.3 + 1 275 c.144C>T c.(142-144)ctC>ctT p.L48L NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 48 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) GGGGCGCTCTCCGGAGGAAGT 0.711000 3 5 0 0 0.115264 0 0 POTEE 445582 broad.mit.edu 37 2 132021858 132021858 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:132021858G>A ENST00000356920.5 + 15 2924 c.2830G>A c.(2830-2832)Gat>Aat p.D944N PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 944 Actin-like. ATP binding CGAGCTGCCCGATGGCCAGGT 0.602000 10 118 0 0 0.435327 0 0 PREX2 80243 broad.mit.edu 37 8 69069587 69069587 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:69069587G>A ENST00000288368.4 + 35 4539 c.4262G>A c.(4261-4263)aGa>aAa p.R1421K NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1421 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TATTATTACAGAGACAATGTT 0.353000 14 51 0 0 0.500413 0 0 DNM3 26052 broad.mit.edu 37 1 171890926 171890926 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:171890926G>A ENST00000358155.4 + 2 376 c.200G>A c.(199-201)cGa>cAa p.R67Q DNM3_ENST00000367733.2_Missense_Mutation_p.R67Q|DNM3_ENST00000367731.1_Missense_Mutation_p.R67Q|DNM3_ENST00000355305.5_Missense_Mutation_p.R67Q|DNM3_ENST00000520906.1_Missense_Mutation_p.R67Q NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 67 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GTAACAAGACGACCTCTTGTG 0.433000 10 3 0 0 0.361761 0 0 ABCA6 23460 broad.mit.edu 37 17 67129868 67129868 + Silent SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:67129868T>C ENST00000284425.2 - 6 879 c.705A>G c.(703-705)gtA>gtG p.V235V NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 235 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATATAAAATATACAAGTGGGG 0.303000 10 20 0 0 0.361761 0 0 IGHG3 3502 broad.mit.edu 37 14 106236039 106236039 + RNA SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:106236039T>A ENST00000390551.2 - 0 764 GGGAGGGCTTTGTTGGAGACC 0.597000 156 78 0 0 0.870114 0 0 LRRC1 55227 broad.mit.edu 37 6 53778708 53778708 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:53778708G>A ENST00000370888.1 + 11 1324 c.1047G>A c.(1045-1047)cgG>cgA p.R349R NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 349 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) GACTAACTCGGATACCTGCAG 0.468000 18 46 0 0 0.557998 0 0 OR11L1 391189 broad.mit.edu 37 1 248004808 248004808 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:248004808G>A ENST00000355784.2 - 1 446 c.391C>T c.(391-393)Cgc>Tgc p.R131C NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R131S(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) AAGGGGTAGCGGAGTGGGCTG 0.587000 26 3 0 0 0.693898 0 0 C5 727 broad.mit.edu 37 9 123779744 123779744 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:123779744C>T ENST00000223642.1 - 14 1791 c.1762G>A c.(1762-1764)Gtg>Atg p.V588M NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 588 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TTAAGAGACACAGTTTGGCCT 0.423000 21 10 0 0 0.654019 0 0 CNTN2 6900 broad.mit.edu 37 1 205041148 205041148 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:205041148C>T ENST00000331830.4 + 20 2902 c.2618C>T c.(2617-2619)gCc>gTc p.A873V NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 873 Fibronectin type-III 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GACACCAGTGCCCGAGTCAGC 0.647000 35 11 0 0 0.840704 0 0 ARMC5 79798 broad.mit.edu 37 16 31477519 31477519 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:31477519C>T ENST00000408912.3 + 8 2719 c.2402C>T c.(2401-2403)tCc>tTc p.S801F ARMC5_ENST00000412665.2_Missense_Mutation_p.S350F|ARMC5_ENST00000268314.4_Missense_Mutation_p.S706F|ARMC5_ENST00000563544.1_Missense_Mutation_p.S706F|ARMC5_ENST00000538189.1_Missense_Mutation_p.S738F|ARMC5_ENST00000457010.2_3'UTR Q96C12 ARMC5_HUMAN armadillo repeat containing 5 706 BTB. 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 GACTCCCTTTCCTGCCTCCAA 0.647000 16 16 0 0 0.608945 0 0 TFB1M 51106 broad.mit.edu 37 6 155578999 155578999 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:155578999C>T ENST00000367166.4 - 7 1067 c.1012G>A c.(1012-1014)Gag>Aag p.E338K NM_016020.3 NP_057104.2 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) GCGTCATCCTCTTCTTTTTCT 0.418000 5 8 0 0 0.184627 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458398 45458398 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:45458398C>T ENST00000548424.1 + 0 448 TACCTGTTTTCCTTTGGCTCC 0.522000 8 15 0 0 0.387290 0 0 ELN 2006 broad.mit.edu 37 7 73481102 73481102 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:73481102C>T ENST00000252034.7 + 32 2526 c.2127C>T c.(2125-2127)ttC>ttT p.F709F ELN_ENST00000380575.4_Silent_p.F662F|ELN_ENST00000358929.4_Silent_p.F777F|ELN_ENST00000458204.1_Silent_p.F699F|ELN_ENST00000429192.1_Silent_p.F677F|ELN_ENST00000357036.5_Silent_p.F696F|ELN_ENST00000380584.4_Silent_p.F643F|ELN_ENST00000320399.6_Silent_p.F742F|ELN_ENST00000414324.1_Silent_p.F685F|ELN_ENST00000380562.4_Silent_p.F715F|ELN_ENST00000380553.4_Silent_p.F555F|ELN_ENST00000380576.5_Silent_p.F690F|ELN_ENST00000320492.7_Silent_p.F628F|ELN_ENST00000445912.1_Silent_p.F691F NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 771 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTCCCATTTTCCCAGGTATGC 0.612000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 12 40 0 0 0.435327 0 0 KCNF1 3754 broad.mit.edu 37 2 11052970 11052970 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:11052970G>A ENST00000295082.1 + 1 908 c.418G>A c.(418-420)Gag>Aag p.E140K NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 140 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GGAGCTGGAGGAGATCGCGCG 0.632000 19 27 0 0 0.654019 0 0 MROH2B 133558 broad.mit.edu 37 5 41005705 41005705 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:41005705C>T ENST00000399564.4 - 35 4242 c.3792G>A c.(3790-3792)atG>atA p.M1264I MROH2B_ENST00000506092.2_Missense_Mutation_p.M819I NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GCAGCTGTTCCATGATGTCCA 0.483000 15 11 0 0 0.575678 0 0 KPRP 448834 broad.mit.edu 37 1 152732493 152732493 + Silent SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:152732493T>C ENST00000368773.1 + 2 487 c.429T>C c.(427-429)acT>acC p.T143T KPRP_ENST00000606109.1_Silent_p.T143T NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 143 Gln-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ATACAGAAACTTGTTATGTAG 0.512000 108 29 0 0 0.870114 0 0 NEFM 4741 broad.mit.edu 37 8 24771739 24771739 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:24771739C>T ENST00000221166.5 + 1 1215 c.433C>T c.(433-435)Cag>Tag p.Q145* GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Nonsense_Mutation_p.Q145*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.Q145* P07197 NFM_HUMAN neurofilament, medium polypeptide 145 Linker 1.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CTCGCACGCCCAGCTGGGCGA 0.632000 5 4 0 0 0.184627 0 0 MUC16 94025 broad.mit.edu 37 19 9069660 9069660 + Missense_Mutation SNP G G A rs74872724 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9069660G>A ENST00000397910.4 - 3 17989 c.17786C>T c.(17785-17787)tCc>tTc p.S5929F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5931 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGCACTGGGGAAGAAGGAGA 0.498000 21 14 0 0 0.667858 0 0 ATRX 546 broad.mit.edu 37 X 76939747 76939747 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:76939747G>A ENST00000373344.5 - 9 1215 c.1001C>T c.(1000-1002)tCc>tTc p.S334F ATRX_ENST00000395603.3_Missense_Mutation_p.S296F|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 334 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GCCAGAACAGGAATCATCTAA 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 6 0 0 0.248553 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86526897 86526897 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:86526897C>T ENST00000450689.2 - 19 2795 c.2610G>A c.(2608-2610)gaG>gaA p.E870E KIAA1324L_ENST00000297222.6_Silent_p.E630E|KIAA1324L_ENST00000444627.1_Silent_p.E799E|KIAA1324L_ENST00000416314.1_Silent_p.E703E NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 870 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CTTCAGCACTCTCCCACAGGA 0.463000 20 27 0 0 0.608945 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766897 77766897 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:77766897G>A ENST00000521891.2 + 10 8188 c.7740G>A c.(7738-7740)agG>agA p.R2580R ZFHX4_ENST00000518282.1_Silent_p.R2554R|ZFHX4_ENST00000455469.2_Silent_p.R2535R|ZFHX4_ENST00000050961.6_Silent_p.R2535R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2535 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCCTAAAAAGGAAACTAGACG 0.502000 HNSCC(33;0.089) 5 20 0 0 0.217242 0 0 NEURL4 84461 broad.mit.edu 37 17 7227009 7227009 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:7227009G>A ENST00000399464.2 - 13 2310 c.2295C>T c.(2293-2295)gtC>gtT p.V765V NEURL4_ENST00000315614.7_Silent_p.V765V|NEURL4_ENST00000570460.1_Silent_p.V743V NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCTTCTGAATGACAATTTCAA 0.602000 10 6 0 0 0.387290 0 0 C2orf71 388939 broad.mit.edu 37 2 29294105 29294105 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:29294105C>T ENST00000331664.5 - 1 3022 c.3023G>A c.(3022-3024)aGg>aAg p.R1008K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 1008 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GCTCCGGCGCCTCTTGTCTGC 0.662000 11 25 0 0 0.411799 0 0 HLCS 3141 broad.mit.edu 37 21 38302641 38302641 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:38302641G>A ENST00000399120.1 - 6 2319 c.1089C>T c.(1087-1089)gtC>gtT p.V363V HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Silent_p.V363V NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 363 V -> D (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)). cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TCTCTCTAAGGACTTCGTATC 0.458000 11 25 0 0 0.361761 0 0 KSR2 283455 broad.mit.edu 37 12 117962701 117962701 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:117962701G>A ENST00000425217.1 - 14 2142 c.2088C>T c.(2086-2088)ttC>ttT p.F696F KSR2_ENST00000339824.5_Silent_p.F725F|KSR2_ENST00000302438.5_Silent_p.F422F|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 725 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGCACCCATGAAAAGCACCA 0.577000 8 16 0 0 0.335167 0 0 TMEM5 10329 broad.mit.edu 37 12 64174929 64174929 + Silent SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:64174929A>T ENST00000261234.6 + 2 458 c.300A>T c.(298-300)gtA>gtT p.V100V TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537982.1_3'UTR NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 100 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) ATCTCAGTGTACAAATCTGGG 0.313000 40 54 0 0 0.870114 0 0 SUGP2 10147 broad.mit.edu 37 19 19120956 19120956 + Silent SNP G G A rs139001412 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:19120956G>A ENST00000601879.1 - 5 2343 c.2046C>T c.(2044-2046)ctC>ctT p.L682L SUGP2_ENST00000456085.2_Silent_p.L451L|SUGP2_ENST00000337018.6_Silent_p.L682L|SUGP2_ENST00000452918.2_Silent_p.L682L|SUGP2_ENST00000600377.1_Silent_p.L696L Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 682 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GAGCACGGAGGAGCCCCCGCC 0.662000 10 54 0 0 0.361761 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100537692 100537692 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:100537692G>A ENST00000268070.4 - 19 2799 c.2694C>T c.(2692-2694)gtC>gtT p.V898V NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 898 TSP type-1 3. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GCCGCGTAGCGACGTGTGTGC 0.692000 5 11 0 0 0.278610 0 0 ELTD1 64123 broad.mit.edu 37 1 79403674 79403674 + Splice_Site SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:79403674T>C ENST00000370742.3 - 6 641 c.576_splice c.e6-1 p.E193_splice NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 193 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTTTACAAATTCCTATTGAAA 0.299000 12 4 0 0 0.457914 0 0 POLR2A 5430 broad.mit.edu 37 17 7417414 7417414 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:7417414C>T ENST00000322644.6 + 29 6230 c.5831C>T c.(5830-5832)tCc>tTc p.S1944F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1944 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TCTCCCACTTCCCCTGGTTAC 0.637000 28 32 0 0 0.812448 0 0 TTC13 79573 broad.mit.edu 37 1 231044697 231044697 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:231044697G>A ENST00000366661.4 - 21 2386 c.2379C>T c.(2377-2379)ccC>ccT p.P793P TTC13_ENST00000414259.1_Silent_p.P740P|TTC13_ENST00000366662.4_Silent_p.P739P NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 793 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CCTTCCCTTTGGGAATTTTTC 0.383000 125 25 0 0 0.870114 0 0 PAK7 57144 broad.mit.edu 37 20 9525015 9525015 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:9525015C>T ENST00000378429.3 - 9 2416 c.e9+1 PAK7_ENST00000353224.5_Splice_Site|PAK7_ENST00000378423.1_Splice_Site NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GACCCCCTTACCTCTGTCCCA 0.542000 82 79 0 0 0.870114 0 0 DNAH8 1769 broad.mit.edu 37 6 38813380 38813380 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:38813380G>A ENST00000359357.3 + 34 4479 c.4225G>A c.(4225-4227)Gat>Aat p.D1409N DNAH8_ENST00000441566.1_Missense_Mutation_p.D1409N|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1626N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TAAGGAGAAGGATATCGAAGC 0.383000 13 42 0 0 0.557998 0 0 MUC16 94025 broad.mit.edu 37 19 9089550 9089550 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9089550C>T ENST00000397910.4 - 1 2468 c.2265G>A c.(2263-2265)ggG>ggA p.G755G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 755 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTCAGGAGTCCCTGTGGTAA 0.473000 51 41 0 0 0.870114 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184678 130184678 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:130184678G>A ENST00000422113.2 - 2 971 c.645C>T c.(643-645)tcC>tcT p.S215S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 215 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTGGTCCACGGACTTCCTCC 0.692000 11 31 0 0 0.435327 0 0 PLCXD3 345557 broad.mit.edu 37 5 41510611 41510611 + Silent SNP C C T rs150477234 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:41510611C>T ENST00000377801.3 - 1 92 c.18G>A c.(16-18)ggG>ggA p.G6G PLCXD3_ENST00000328457.3_Silent_p.G6G Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 6 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GCTCGTTTTTCCCCTGAGACG 0.617000 16 7 0 0 0.539581 0 0 SLC9C1 285335 broad.mit.edu 37 3 111936300 111936300 + Silent SNP C C T rs139599943 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:111936300C>T ENST00000305815.5 - 15 2031 c.1779G>A c.(1777-1779)gaG>gaA p.E593E SLC9C1_ENST00000487372.1_Silent_p.E545E NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 593 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTGATGGGCCCTCTTTTTCCT 0.299000 17 30 0 0 0.639603 0 0 PTX4 390667 broad.mit.edu 37 16 1536507 1536507 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:1536507G>A ENST00000440447.2 - 3 496 c.425C>T c.(424-426)tCg>tTg p.S142L PTX4_ENST00000293922.1_Silent_p.F285F|PTX4_ENST00000447419.2_Silent_p.F290F Q96A99 PTX4_HUMAN pentraxin 4, long 0 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGGCAGTGACGAAACCAGGGC 0.642000 21 8 0 0 0.639603 0 0 SPTBN4 57731 broad.mit.edu 37 19 41007858 41007858 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:41007858C>T ENST00000352632.3 + 8 901 c.815C>T c.(814-816)tCc>tTc p.S272F SPTBN4_ENST00000598249.1_Missense_Mutation_p.S272F|SPTBN4_ENST00000595535.1_Missense_Mutation_p.S272F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S272F|SPTBN4_ENST00000338932.3_Missense_Mutation_p.S272F Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 272 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GATGAGAAGTCCATCATCACC 0.507000 20 116 0 0 0.693898 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:72658179T>C ENST00000425256.1 - 0 1732 NR_002164.1 cagagtgatttcggatgaatt 0.507000 3 70 0 0 0.115264 0 0 UBAP2L 9898 broad.mit.edu 37 1 154229841 154229841 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:154229841C>T ENST00000428931.1 + 20 2540 c.2373C>T c.(2371-2373)ctC>ctT p.L791L UBAP2L_ENST00000343815.6_Silent_p.L791L|UBAP2L_ENST00000271877.7_Silent_p.L802L|UBAP2L_ENST00000361546.2_Silent_p.L791L NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 791 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTCCCAACCTCCCTCCTGGGG 0.468000 29 13 0 0 0.819951 0 0 PRR25 388199 broad.mit.edu 37 16 863791 863791 + Missense_Mutation SNP C C G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:863791C>G ENST00000301698.1 + 3 1139 c.1139C>G c.(1138-1140)cCg>cGg p.P380R NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 380 large_intestine(1)|lung(1)|skin(1) 3 CGGTTCGGGCCGCGCTCCTGC 0.786000 6 1 0 0 0.278610 0 0 ACACB 32 broad.mit.edu 37 12 109692078 109692078 + Missense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:109692078A>T ENST00000338432.7 + 44 6224 c.6105A>T c.(6103-6105)gaA>gaT p.E2035D ACACB_ENST00000377854.5_Missense_Mutation_p.E1965D|ACACB_ENST00000543201.1_Missense_Mutation_p.E701D|ACACB_ENST00000377848.3_Missense_Mutation_p.E2035D O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2035 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GAGAAATTGAATTCCTCCCAT 0.502000 37 93 0 0 0.840704 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47219493 47219493 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:47219493G>A ENST00000300404.2 + 3 551 c.492G>A c.(490-492)gtG>gtA p.V164V B4GALNT2_ENST00000504681.1_Silent_p.V78V|B4GALNT2_ENST00000393354.2_Silent_p.V104V NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 164 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TCCCAGCGGTGAAAGCGAGGA 0.512000 22 83 0 0 0.681144 0 0 TLR5 7100 broad.mit.edu 37 1 223283825 223283825 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:223283825G>A ENST00000540964.1 - 4 3010 c.2549C>T c.(2548-2550)cCg>cTg p.P850L TLR5_ENST00000342210.6_Missense_Mutation_p.P850L O60602 TLR5_HUMAN toll-like receptor 5 850 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AGTTTGCAACGGAATGTTATT 0.373000 39 18 0 0 0.870114 0 0 CLPB 81570 broad.mit.edu 37 11 72004437 72004437 + Missense_Mutation SNP G G C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:72004437G>C ENST00000294053.3 - 17 2271 c.2098C>G c.(2098-2100)Cct>Gct p.P700A CLPB_ENST00000340729.5_Missense_Mutation_p.P641A|CLPB_ENST00000437826.2_Missense_Mutation_p.P655A|CLPB_ENST00000538021.1_Missense_Mutation_p.P308A|CLPB_ENST00000538039.1_Missense_Mutation_p.P670A|CLPB_ENST00000543042.1_Missense_Mutation_p.P499A NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 700 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 ACCTTCTCAGGGTGCAGTGGT 0.592000 28 16 0 0 0.740014 0 0 ZNF281 23528 broad.mit.edu 37 1 200376691 200376691 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:200376691G>A ENST00000294740.2 - 2 2267 c.2143C>T c.(2143-2145)Cct>Tct p.P715S ZNF281_ENST00000367353.1_Missense_Mutation_p.P715S|ZNF281_ENST00000367352.3_Missense_Mutation_p.P679S NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 715 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 CACTCCAAAGGAGACGTAGTG 0.433000 62 11 0 0 0.870114 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036398 21036398 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:21036398G>A ENST00000381545.3 + 13 1763 c.1544G>A c.(1543-1545)aGa>aAa p.R515K LST3_ENST00000540229.1_Missense_Mutation_p.R515K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R515K|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R515K NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 515 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) CTCCAGAACAGAAATTACTCA 0.333000 30 33 0 0 0.804634 0 0 CYP4X1 260293 broad.mit.edu 37 1 47512182 47512182 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:47512182G>A ENST00000371901.3 + 9 1367 c.1117G>A c.(1117-1119)Gag>Aag p.E373K CYP4X1_ENST00000538609.1_Missense_Mutation_p.E372K NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 373 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 GTGCATCAAGGAGACGTGCCG 0.493000 35 17 0 0 0.859065 0 0 COL6A3 1293 broad.mit.edu 37 2 238271994 238271994 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:238271994C>T ENST00000295550.4 - 14 6417 c.5965G>A c.(5965-5967)Gag>Aag p.E1989K COL6A3_ENST00000353578.4_Missense_Mutation_p.E1783K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1788K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1783K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1789K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1382K NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1989 Nonhelical region.|VWFA 10. 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) ATTAGCCGCTCCAAGTTGACC 0.498000 25 24 0 0 0.681144 0 0 SAMD7 344658 broad.mit.edu 37 3 169639031 169639031 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:169639031C>T ENST00000428432.2 + 4 505 c.116C>T c.(115-117)aCt>aTt p.T39I SAMD7_ENST00000335556.3_Missense_Mutation_p.T39I NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 39 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GTAGCTCCAACTGACCCAAGA 0.413000 58 89 0 0 0.870114 0 0 RSAD1 55316 broad.mit.edu 37 17 48557289 48557289 + Silent SNP C C T rs11555806 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:48557289C>T ENST00000258955.2 + 3 403 c.318C>T c.(316-318)ccC>ccT p.P106P NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 106 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TAGCCAGTCCCCACACGGTGG 0.607000 OREG0024566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 43 0 0 0.457914 0 0 ULK4 54986 broad.mit.edu 37 3 41961249 41961249 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:41961249G>A ENST00000301831.4 - 6 1065 c.603C>T c.(601-603)gaC>gaT p.D201D ULK4_ENST00000420927.1_Silent_p.D201D NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 201 Protein kinase. ATP binding|protein serine/threonine kinase activity p.D201E(2) breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AAGACCAGAGGTCACTGGAGA 0.413000 56 113 0 0 0.870114 0 0 KRT6C 286887 broad.mit.edu 37 12 52867474 52867474 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:52867474C>T ENST00000252250.6 - 1 95 c.48G>A c.(46-48)cgG>cgA p.R16R NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 16 Head. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CACTGAAACCCCGGCGGCTGC 0.667000 7 22 0 0 0.307466 0 0 ZNF527 84503 broad.mit.edu 37 19 37879562 37879562 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:37879562C>T ENST00000436120.2 + 5 718 c.611C>T c.(610-612)tCa>tTa p.S204L ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCCAAAATTCAGTCATAATT 0.323000 7 31 0 0 0.307466 0 0 ITFG1 81533 broad.mit.edu 37 16 47292640 47292640 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:47292640G>A ENST00000320640.6 - 12 1461 c.1233C>T c.(1231-1233)gaC>gaT p.D411D ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Silent_p.D298D NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 411 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) GCACTACAATGTCCAAGATTC 0.284000 11 8 0 0 0.411799 0 0 IGSF1 3547 broad.mit.edu 37 X 130409260 130409260 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:130409260C>T ENST00000370904.1 - 23 4068 c.3157_splice c.e23-1 p.G1053_splice IGSF1_ENST00000370903.3_Splice_Site_p.G1067_splice|IGSF1_ENST00000370910.1_Splice_Site_p.G1053_splice|IGSF1_ENST00000361420.3_Splice_Site_p.G1062_splice Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1062 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGGGAGTAAGCCTGGAAGAAA 0.522000 7 45 0 0 0.248553 0 0 C10orf71 118461 broad.mit.edu 37 10 50531758 50531758 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:50531758G>A ENST00000374144.3 + 3 1456 c.1168G>A c.(1168-1170)Ggg>Agg p.G390R C10orf71_ENST00000323868.4_Missense_Mutation_p.G390R Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 390 p.G390R(1) endometrium(1) 1 TGGCAAAAAAGGGAAAGAAAG 0.473000 22 9 0 0 0.608945 0 0 KCNK15 60598 broad.mit.edu 37 20 43374696 43374696 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:43374696C>T ENST00000372861.3 + 1 276 c.145C>T c.(145-147)Cgg>Tgg p.R49W NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 49 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) GGGCGCTCTCCGGAGGAAGTT 0.711000 3 5 0 0 0.115264 0 0 UGGT2 55757 broad.mit.edu 37 13 96665626 96665626 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:96665626G>A ENST00000376747.3 - 5 665 c.595C>T c.(595-597)Cac>Tac p.H199Y UGGT2_ENST00000376714.3_Missense_Mutation_p.H199Y|UGGT2_ENST00000397618.3_Missense_Mutation_p.H199Y|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Missense_Mutation_p.H199Y NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 199 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 AATACTTTGTGAAATGCACTA 0.353000 27 11 0 0 0.779181 0 0 MGA 23269 broad.mit.edu 37 15 42034889 42034889 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:42034889C>T ENST00000219905.7 + 15 4912 c.4731C>T c.(4729-4731)gtC>gtT p.V1577V MGA_ENST00000389936.4_Silent_p.V1577V|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron|MGA_ENST00000570161.1_Silent_p.V1577V NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1577 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) CAGTAATGGTCGTCACACCTG 0.498000 15 13 0 0 0.500413 0 0 CUX2 23316 broad.mit.edu 37 12 111785825 111785825 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:111785825C>T ENST00000261726.6 + 22 4311 c.4157C>T c.(4156-4158)tCc>tTc p.S1386F NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1386 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCTCAGAGTCCTCACGCTGC 0.612000 14 40 0 0 0.500413 0 0 TEKT4P2 100132288 broad.mit.edu 37 21 9907319 9907319 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:9907319G>A ENST00000416067.1 - 0 1473 NR_037872.1|NR_038327.1 GGCGGTCGATGAAGAGACTGT 0.592000 13 24 0 0 0.500413 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4442750 4442750 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:4442750G>A ENST00000254718.4 - 26 4253 c.3947C>T c.(3946-3948)gCc>gTc p.A1316V MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A1316V Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 1316 Required for nuclear and nucleolar localization (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TTTCTTCTTGGCCCCACTCTG 0.577000 69 59 0 0 0.870114 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554380 140554380 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140554380C>T ENST00000231137.3 + 1 2138 c.1964C>T c.(1963-1965)aCc>aTc p.T655I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 655 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTCGGCCACCGCCACGCTG 0.711000 33 194 0 0 0.827153 0 0 PON1 5444 broad.mit.edu 37 7 94944801 94944801 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:94944801C>T ENST00000222381.3 - 4 434 c.201_splice c.e4-1 p.G68_splice PON1_ENST00000542556.1_Splice_Site_p.G68_splice NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 68 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) ATACTTTAATCCCTTATAAAC 0.428000 21 34 0 0 0.624587 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715752 18715752 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:18715752G>A ENST00000433979.1 + 26 3699 c.3583G>A c.(3583-3585)Gaa>Aaa p.E1195K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1236K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1195K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1195 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTTTCCTCAGGAATCCTGTTT 0.403000 3 1 0 0 0.115264 0 0 PSG7 5676 broad.mit.edu 37 19 43428920 43428920 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:43428920G>A ENST00000406070.2 - 0 1396 NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) gctctttgaggttccatggga 0.418000 6 52 0 0 0.248553 0 0 FOXI1 2299 broad.mit.edu 37 5 169535120 169535120 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:169535120G>A ENST00000306268.6 + 2 703 c.642G>A c.(640-642)agG>agA p.R214R FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 214 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding p.R214R(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTTCCGCAGGAAAAGGAAGA 0.493000 Pendred syndrome 24 11 0 0 0.693898 0 0 FREM2 341640 broad.mit.edu 37 13 39433567 39433567 + Silent SNP G G A rs115054860 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:39433567G>A ENST00000280481.7 + 14 7575 c.7359G>A c.(7357-7359)gtG>gtA p.V2453V NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2453 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGAGAGAAGTGGACTTCGACA 0.537000 5 61 0 0 0.278610 0 0 LRP1B 53353 broad.mit.edu 37 2 141625352 141625352 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:141625352G>A ENST00000389484.3 - 27 5357 c.4386C>T c.(4384-4386)atC>atT p.I1462I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1462 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) GACCTCGGATGATTTCTATCA 0.408000 TSP Lung(27;0.18) 37 32 0 0 0.853193 0 0 IL6ST 3572 broad.mit.edu 37 5 55260006 55260006 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:55260006G>A ENST00000381298.2 - 6 938 c.626C>T c.(625-627)tCa>tTa p.S209L IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.S209L|IL6ST_ENST00000381294.3_Missense_Mutation_p.S209L|IL6ST_ENST00000336909.5_Missense_Mutation_p.S209L|IL6ST_ENST00000522633.2_Missense_Mutation_p.S209L|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.S209L|IL6ST_ENST00000502326.3_Missense_Mutation_p.S209L NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 209 Fibronectin type-III 1. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) GATATGATCTGATGTAACCTT 0.358000 O hepatocellular ca 47 29 0 0 0.870114 0 0 ERBB2 2064 broad.mit.edu 37 17 37864760 37864760 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:37864760C>T ENST00000406381.2 + 5 832 c.322C>T c.(322-324)Cgg>Tgg p.R108W ERBB2_ENST00000269571.5_Missense_Mutation_p.R138W|ERBB2_ENST00000584450.1_Missense_Mutation_p.R138W|ERBB2_ENST00000578199.1_Missense_Mutation_p.R108W|ERBB2_ENST00000541774.1_Missense_Mutation_p.R123W|ERBB2_ENST00000584601.1_Missense_Mutation_p.R108W|ERBB2_ENST00000540042.1_Missense_Mutation_p.R108W|ERBB2_ENST00000540147.1_Missense_Mutation_p.R108W|ERBB2_ENST00000445658.2_Intron NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 138 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGGAGGCCTGCGGGAGCTGCA 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 15 28 0 0 0.539581 0 0 NLRP5 126206 broad.mit.edu 37 19 56515139 56515139 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:56515139C>T ENST00000390649.3 + 2 120 c.120C>T c.(118-120)ttC>ttT p.F40F NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 40 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ATCCACTTTTCCCCCAAAACC 0.438000 7 40 0 0 0.335167 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996047 140996047 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:140996047G>A ENST00000285879.4 + 4 3143 c.2857G>A c.(2857-2859)Gcc>Acc p.A953T MAGEC1_ENST00000406005.2_Missense_Mutation_p.A20T NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 953 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTTCAGGAAAGCCCGTGAGTT 0.463000 HNSCC(15;0.026) 34 25 0 0 0.804634 0 0 TROAP 10024 broad.mit.edu 37 12 49717459 49717459 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:49717459C>T ENST00000551245.1 + 2 179 c.68C>T c.(67-69)cCg>cTg p.P23L RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000550709.1_Missense_Mutation_p.P23L|TROAP_ENST00000257909.3_Missense_Mutation_p.P23L|TROAP_ENST00000549534.1_Missense_Mutation_p.P23L|TROAP_ENST00000549275.1_Missense_Mutation_p.P23L|TROAP_ENST00000548311.1_Missense_Mutation_p.P23L|TROAP_ENST00000380327.5_Missense_Mutation_p.P23L Q12815 TROAP_HUMAN trophinin associated protein 23 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 AGCAAGATTCCGGTACGCTCT 0.582000 78 103 0 0 0.870114 0 0 SLC41A3 54946 broad.mit.edu 37 3 125752456 125752456 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:125752456G>A ENST00000383598.2 - 3 654 c.369C>T c.(367-369)ctC>ctT p.L123L SLC41A3_ENST00000346785.5_Silent_p.L113L|SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000508835.1_Silent_p.L32L|SLC41A3_ENST00000360370.4_Silent_p.L149L|SLC41A3_ENST00000315891.6_Silent_p.L149L NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 149 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) TCACCTGGATGAGGGCCAGGT 0.557000 8 16 0 0 0.387290 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22472946 22472946 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:22472946C>T ENST00000557788.2 - 0 324 ACGGCCCTGTCCGCGGCGGTC 0.602000 66 92 0 0 0.870114 0 0 IL1RN 3557 broad.mit.edu 37 2 113887221 113887221 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:113887221G>A ENST00000361779.3 + 4 428 c.83G>A c.(82-84)gGa>gAa p.G28E IL1RN_ENST00000409930.3_Missense_Mutation_p.G62E|IL1RN_ENST00000409052.1_Missense_Mutation_p.G28E|IL1RN_ENST00000354115.2_Missense_Mutation_p.G44E|IL1RN_ENST00000259206.5_Missense_Mutation_p.G65E NM_173843.2 NP_776215.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 62 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) TACTTGCAAGGACCAAATGTC 0.483000 Lichen Sclerosis et Atrophicus, Familial Clustering of 15 64 0 0 0.575678 0 0 STAT5B 6777 broad.mit.edu 37 17 40375412 40375412 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:40375412G>A ENST00000293328.3 - 5 706 c.538C>T c.(538-540)Ctg>Ttg p.L180L NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 180 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGGATCCTCAGGCTCTCCTGG 0.552000 6 25 0 0 0.248553 0 0 CACNA1E 777 broad.mit.edu 37 1 181740455 181740455 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:181740455G>A ENST00000526775.1 + 35 5016 c.4851G>A c.(4849-4851)gaG>gaA p.E1617E CACNA1E_ENST00000358338.5_Silent_p.E1568E|CACNA1E_ENST00000367570.1_Silent_p.E1636E|CACNA1E_ENST00000367573.2_Silent_p.E1636E|CACNA1E_ENST00000367567.4_Silent_p.E1243E|CACNA1E_ENST00000357570.5_Silent_p.E1587E|CACNA1E_ENST00000360108.3_Silent_p.E1617E NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1636 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTAGACGAGGAGAGTCACA 0.463000 5 2 0 0 0.307466 0 0 XDH 7498 broad.mit.edu 37 2 31562483 31562483 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:31562483G>A ENST00000379416.3 - 34 3694 c.3646C>T c.(3646-3648)Ccc>Tcc p.P1216S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1216 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCCCCTCGGGGGAATAGTGT 0.612000 29 23 0 0 0.740014 0 0 TRIOBP 11078 broad.mit.edu 37 22 38109300 38109300 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:38109300C>T ENST00000406386.3 + 5 593 c.338C>T c.(337-339)cCc>cTc p.P113L RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 113 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAGGCAGTACCCTATCTGGAG 0.662000 50 62 0 0 0.870114 0 0 CCRL2 9034 broad.mit.edu 37 3 46450193 46450193 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:46450193T>C ENST00000399036.3 + 2 975 c.623T>C c.(622-624)gTt>gCt p.V208A ACKR5_ENST00000357392.4_Missense_Mutation_p.V220A|ACKR5_ENST00000400882.2_Missense_Mutation_p.V208A|ACKR5_ENST00000400880.3_Missense_Mutation_p.V208A NM_003965.4 NP_003956.2 AACATTTCGGTTCTTGTCCTC 0.388000 33 55 0 0 0.804634 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055154 9055154 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:9055154G>A ENST00000383836.3 - 17 2412 c.1985C>T c.(1984-1986)aCc>aTc p.T662I SRGAP3_ENST00000360413.3_Missense_Mutation_p.T638I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 662 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GTGCATGAGGGTAGGCCCGAA 0.532000 T RAF1 pilocytic astrocytoma 15 26 0 0 0.520397 0 0 TANC2 26115 broad.mit.edu 37 17 61499137 61499137 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:61499137G>A ENST00000424789.2 + 25 5798 c.5794G>A c.(5794-5796)Gga>Aga p.G1932R RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.G1942R NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1932 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CGGGTCTCGTGGAGACCTCTT 0.532000 9 56 0 0 0.387290 0 0 OR6C4 341418 broad.mit.edu 37 12 55945169 55945169 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:55945169C>T ENST00000394256.2 + 1 187 c.159C>T c.(157-159)ctC>ctT p.L53L RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 ACCCCCACCTCCAGACCCCCA 0.418000 55 193 0 0 0.870114 0 0 SATB1 6304 broad.mit.edu 37 3 18436006 18436006 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:18436006C>T ENST00000338745.6 - 7 2888 c.1154G>A c.(1153-1155)cGa>cAa p.R385Q SATB1_ENST00000454909.2_Missense_Mutation_p.R385Q|SATB1_ENST00000417717.2_Missense_Mutation_p.R385Q|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 385 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GATTCCTGCTCGTTTCAGTTC 0.463000 76 107 0 0 0.870114 0 0 DNA2 1763 broad.mit.edu 37 10 70225555 70225555 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:70225555G>A ENST00000399180.2 - 4 713 c.714C>T c.(712-714)gcC>gcT p.A238A DNA2_ENST00000399179.2_Silent_p.A152A|DNA2_ENST00000358410.3_Silent_p.A152A P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 152 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 TTTGGCGTGTGGCTGGATCAG 0.353000 6 1 0 0 0.307466 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12862070 12862070 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:12862070C>T ENST00000379672.5 + 16 1679 c.1379C>T c.(1378-1380)cCa>cTa p.P460L ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P460L|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P460L NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 460 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TATGGGAGTCCAGTACACGTG 0.577000 3 24 0 0 0.184627 0 0 TMEM38A 79041 broad.mit.edu 37 19 16791364 16791364 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:16791364C>T ENST00000187762.2 + 3 529 c.438C>T c.(436-438)ttC>ttT p.F146F NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 146 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 ACGGGTGGTTCGTCATGATTG 0.522000 33 28 0 0 0.788014 0 0 KCNV1 27012 broad.mit.edu 37 8 110980337 110980337 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:110980337C>T ENST00000524391.1 - 4 2515 c.1483G>A c.(1483-1485)Gga>Aga p.G495R KCNV1_ENST00000297404.1_Missense_Mutation_p.G495R Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 495 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AAATCATCTCCCCCGCTGCTC 0.373000 14 20 0 0 0.520397 0 0 SHC3 53358 broad.mit.edu 37 9 91686121 91686121 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:91686121C>T ENST00000375835.4 - 5 1082 c.776G>A c.(775-777)gGa>gAa p.G259E SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 259 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TACCGGGTCTCCCCCAGAGGC 0.498000 29 15 0 0 0.812448 0 0 FUT2 2524 broad.mit.edu 37 19 49206638 49206638 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:49206638G>A ENST00000425340.2 + 2 542 c.425G>A c.(424-426)gGg>gAg p.G142E FUT2_ENST00000391876.4_Missense_Mutation_p.G142E NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 142 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CACATCCCGGGGGAGTACGTC 0.647000 12 65 0 0 0.387290 0 0 DNAH10 196385 broad.mit.edu 37 12 124330279 124330279 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:124330279G>A ENST00000409039.3 + 30 5164 c.5139G>A c.(5137-5139)agG>agA p.R1713R NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1713 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACTATGGCAGGAAAATGCACC 0.517000 8 15 0 0 0.307466 0 0 MRPS23 51649 broad.mit.edu 37 17 55926751 55926751 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:55926751G>A ENST00000313608.8 - 2 110 c.65C>T c.(64-66)gCc>gTc p.A22V MRPS23_ENST00000578444.1_Missense_Mutation_p.A22V NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 22 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) CAGCACCCCGGCCCGAACCAG 0.577000 13 31 0 0 0.435327 0 0 SAFB 6294 broad.mit.edu 37 19 5667859 5667859 + Silent SNP C C A rs141149674 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:5667859C>A ENST00000292123.5 + 20 2687 c.2580C>A c.(2578-2580)tcC>tcA p.S860S SAFB_ENST00000592224.1_Silent_p.S861S|SAFB_ENST00000588852.1_Silent_p.S862S|SAFB_ENST00000454510.1_Silent_p.S793S|SAFB_ENST00000433404.1_Silent_p.S692S|SAFB_ENST00000538656.1_Silent_p.S704S NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 860 Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CCGGTCACTCCGGGCCTGGCC 0.607000 10 51 0.00185496 0.00185979 0.435327 1 0 TRBV11-2 28581 broad.mit.edu 37 7 142198030 142198030 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:142198030G>A ENST00000471935.1 - 0 39 GGAAGGATGGGAGCTTTGCCC 0.572000 13 41 0 0 0.557998 0 0 SDPR 8436 broad.mit.edu 37 2 192711433 192711433 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:192711433C>T ENST00000304141.4 - 1 548 c.219G>A c.(217-219)caG>caA p.Q73Q AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 73 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCTGGTTCTCCTGCACAGCGT 0.572000 16 39 0 0 0.575678 0 0 MS4A14 84689 broad.mit.edu 37 11 60164131 60164131 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:60164131C>T ENST00000300187.6 + 1 357 c.80C>T c.(79-81)cCc>cTc p.P27L MS4A14_ENST00000531783.1_Missense_Mutation_p.P27L|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.P27L NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 27 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 ACTGCATTTCCCTACAGACCT 0.468000 19 3 0 0 0.608945 0 0 DRD5 1816 broad.mit.edu 37 4 9784592 9784592 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:9784592C>T ENST00000304374.2 + 1 1335 c.939C>T c.(937-939)ttC>ttT p.F313F NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 313 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGCCCTTCTTCATCCTTAACT 0.597000 32 22 0 0 0.804634 0 0 OR51D1 390038 broad.mit.edu 37 11 4661207 4661207 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:4661207C>T ENST00000357605.2 + 1 263 c.187C>T c.(187-189)Cgt>Tgt p.R63C NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTCATCATTCGTGTGGAGAG 0.542000 30 9 0 0 0.812448 0 0 CNTN6 27255 broad.mit.edu 37 3 1369179 1369179 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:1369179G>A ENST00000446702.2 + 10 1749 c.1122G>A c.(1120-1122)acG>acA p.T374T CNTN6_ENST00000350110.2_Silent_p.T374T|CNTN6_ENST00000539053.1_Silent_p.T302T Q9UQ52 CNTN6_HUMAN contactin 6 374 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TCATCATAACGATGCTGAATG 0.348000 21 25 0 0 0.693898 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626678 1626678 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:1626678C>T ENST00000421627.2 + 9 2481 c.2347C>T c.(2347-2349)Ccg>Tcg p.P783S DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 862 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGGATGTCTCCGTGCCGCAG 0.597000 6 7 0 0 0.217242 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558738 140558738 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140558738G>A ENST00000239444.2 + 1 1368 c.1123G>A c.(1123-1125)Gat>Aat p.D375N NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 375 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGACCTTGATTCAGGAGA 0.458000 49 394 0 0 0.870114 0 0 SCN7A 6332 broad.mit.edu 37 2 167298251 167298251 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:167298251G>A ENST00000409855.1 - 14 1938 c.1812C>T c.(1810-1812)ttC>ttT p.F604F NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 604 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTCCCAACTTGAAAATTCTTA 0.353000 20 16 0 0 0.624587 0 0 SVOPL 136306 broad.mit.edu 37 7 138281185 138281185 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:138281185C>T ENST00000421622.1 - 11 1292 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K SVOPL_ENST00000436657.1_Missense_Mutation_p.E330K|SVOPL_ENST00000288513.5_Missense_Mutation_p.E330K|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000419765.3_Missense_Mutation_p.E482K Q8N434 SVOPL_HUMAN SVOP-like 482 integral to membrane transmembrane transporter activity p.E330K(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CCTTTGGTTTCGATGGGGAGA 0.488000 29 31 0 0 0.812448 0 0 AC015849.16 0 broad.mit.edu 37 17 34236529 34236529 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:34236529G>A ENST00000587132.1 - 0 1498 CTGCATGGTTGGAGAAAGTTC 0.483000 5 19 0 0 0.184627 0 0 ADAM28 10863 broad.mit.edu 37 8 24181448 24181448 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:24181448G>A ENST00000265769.4 + 9 932 c.822G>A c.(820-822)gaG>gaA p.E274E RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.E41E|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Silent_p.E21E|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.E274E|RP11-624C23.1_ENST00000523700.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 274 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.E274D(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TCACCTTGGAGAATTTTTCTA 0.383000 13 42 0 0 0.411799 0 0 TUBA3C 7278 broad.mit.edu 37 13 19752419 19752419 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:19752419G>A ENST00000400113.3 - 3 446 c.342C>T c.(340-342)atC>atT p.I114I NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 114 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCAGGTCGACGATCTCCTTGC 0.537000 11 89 0 0 0.479597 0 0 CCDC73 493860 broad.mit.edu 37 11 32697157 32697157 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:32697157G>A ENST00000335185.5 - 9 642 c.599C>T c.(598-600)tCa>tTa p.S200L CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 200 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) ATTTAAAGCTGAAAGTCTTTT 0.264000 4 2 0 0 0.184627 0 0 PKD1 5310 broad.mit.edu 37 16 2168023 2168023 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:2168023G>A ENST00000262304.4 - 5 1178 c.970C>T c.(970-972)Cgc>Tgc p.R324C PKD1_ENST00000423118.1_Missense_Mutation_p.R324C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 324 PKD 1. R -> L (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCACATAGCGATGCGAGGCA 0.706000 5 0 0 0 0.278610 0 0 MXRA5 25878 broad.mit.edu 37 X 3235891 3235891 + Missense_Mutation SNP G G A rs137882293 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:3235891G>A ENST00000217939.6 - 6 5985 c.5831C>T c.(5830-5832)tCg>tTg p.S1944L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1944 Ig-like C2-type 3. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CACGGTGACCGAAAGCAAGAC 0.552000 3 47 0 0 0.115264 0 0 AXDND1 126859 broad.mit.edu 37 1 179460829 179460829 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:179460829G>A ENST00000367618.3 + 19 2635 c.2248G>A c.(2248-2250)Gaa>Aaa p.E750K NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 750 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGATGCGATTGAACTGACAAG 0.418000 115 36 0 0 0.870114 0 0 AQR 9716 broad.mit.edu 37 15 35176814 35176814 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:35176814G>A ENST00000156471.5 - 26 3164 c.2939C>T c.(2938-2940)cCc>cTc p.P980L NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 980 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTTAAAAATGGGTTGAGGAGC 0.368000 19 25 0 0 0.557998 0 0 PREX1 57580 broad.mit.edu 37 20 47249086 47249086 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:47249086G>A ENST00000396220.1 - 34 4381 c.4359C>T c.(4357-4359)tcC>tcT p.S1453S PREX1_ENST00000371941.3_Silent_p.S1453S Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1453 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCTCCAGGCGGGAGGGCAGCT 0.647000 12 24 0 0 0.435327 0 0 ACTN4 81 broad.mit.edu 37 19 39207754 39207754 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:39207754C>T ENST00000252699.2 + 10 1017 c.941C>T c.(940-942)cCc>cTc p.P314L ACTN4_ENST00000390009.3_Missense_Mutation_p.P95L|ACTN4_ENST00000424234.2_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 314 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGCACCATCCCCTGGCTGGAG 0.647000 6 6 0 0 0.278610 0 0 OR4K13 390433 broad.mit.edu 37 14 20502084 20502084 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:20502084G>A ENST00000315693.2 - 1 835 c.834C>T c.(832-834)ttC>ttT p.F278F NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGAGAGGTGTGAAAATTGTGT 0.333000 8 1 0 0 0.307466 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612813 16612813 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:16612813C>T ENST00000443444.2 + 5 1582 c.1442C>T c.(1441-1443)cCa>cTa p.P481L RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.P481L|CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.P480L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.P481L|CCDC144A_ENST00000360524.8_Missense_Mutation_p.P481L A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 481 TCTTTACCACCAGATTCTGAC 0.338000 13 11 0 0 0.457914 0 0 IGLV2-23 28813 broad.mit.edu 37 22 23040869 23040869 + RNA SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:23040869A>C ENST00000390306.2 + 0 479 GACGAGGCTGATTATTACTGC 0.547000 39 95 0 0 0.870114 0 0 AFF2 2334 broad.mit.edu 37 X 148037297 148037297 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:148037297G>A ENST00000370460.2 + 11 2201 c.1722G>A c.(1720-1722)acG>acA p.T574T AFF2_ENST00000342251.3_Silent_p.T541T|AFF2_ENST00000370457.5_Silent_p.T541T|AFF2_ENST00000286437.5_Silent_p.T215T NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 574 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.T574T(2)|p.T215T(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAGTGAAGACGAATGCCAGTC 0.473000 64 53 0 0 0.870114 0 0 EIF3F 8665 broad.mit.edu 37 11 8008871 8008871 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:8008871C>T ENST00000537635.1 + 1 435 c.17C>T c.(16-18)tCc>tTc p.S6F EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000533626.1_5'UTR O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 0 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTGTCATTTCCGCTTCCGCC 0.557000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 137 0 0 0.870114 0 0 TCF4 6925 broad.mit.edu 37 18 53128337 53128337 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:53128337C>T ENST00000354452.3 - 5 828 c.217G>A c.(217-219)Gat>Aat p.D73N TCF4_ENST00000537578.1_Missense_Mutation_p.D49N|TCF4_ENST00000566279.1_Missense_Mutation_p.D73N|TCF4_ENST00000564403.2_Missense_Mutation_p.D73N|TCF4_ENST00000565018.2_Missense_Mutation_p.D73N|TCF4_ENST00000566286.1_Missense_Mutation_p.D71N|TCF4_ENST00000543082.1_Missense_Mutation_p.D31N|TCF4_ENST00000564999.1_Missense_Mutation_p.D73N|TCF4_ENST00000568740.1_Missense_Mutation_p.D49N|TCF4_ENST00000568673.1_Missense_Mutation_p.D49N|TCF4_ENST00000398339.1_Missense_Mutation_p.D175N|RP11-619L19.1_ENST00000587660.1_RNA|TCF4_ENST00000356073.4_Missense_Mutation_p.D73N|TCF4_ENST00000540999.1_Missense_Mutation_p.D49N|TCF4_ENST00000567880.1_Missense_Mutation_p.D73N NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 73 Essential for MYOD1 inhibition (By similarity). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GGAGTCCCATCTCCATAGTTC 0.388000 10 14 0 0 0.335167 0 0 ZNF80 7634 broad.mit.edu 37 3 113955275 113955275 + Missense_Mutation SNP G G T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:113955275G>T ENST00000482457.2 - 1 1150 c.647C>A c.(646-648)cCc>cAc p.P216H NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 216 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GCACTCGTAGGGCTTTCCTGC 0.493000 31 59 2.95478e-19 2.98972e-19 0.840704 1 0 DICER1 23405 broad.mit.edu 37 14 95574384 95574384 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:95574384G>A ENST00000526495.1 - 18 2774 c.2483C>T c.(2482-2484)tCc>tTc p.S828F DICER1_ENST00000541352.1_Missense_Mutation_p.S828F|DICER1_ENST00000343455.3_Missense_Mutation_p.S828F|DICER1_ENST00000527414.1_Missense_Mutation_p.S828F|DICER1_ENST00000393063.1_Missense_Mutation_p.S828F Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 828 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAACTCAATGGATATGGTAAC 0.378000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 24 7 0 0 0.681144 0 0 CORIN 10699 broad.mit.edu 37 4 47746434 47746434 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:47746434C>T ENST00000273857.4 - 5 783 c.784G>A c.(784-786)Gaa>Aaa p.E262K CORIN_ENST00000508498.1_Missense_Mutation_p.E123K|CORIN_ENST00000505909.1_Missense_Mutation_p.E262K|CORIN_ENST00000502252.1_Missense_Mutation_p.E195K|CORIN_ENST00000504584.1_Missense_Mutation_p.E262K NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 262 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTTCCGTTTTCCTGCTGAGGT 0.378000 51 19 0 0 0.870114 0 0 DENND6B 414918 broad.mit.edu 37 22 50757306 50757306 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:50757306A>G ENST00000413817.2 - 3 300 c.229T>C c.(229-231)Tgc>Cgc p.C77R NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B GACAGGTAGCAGATGCTGCTT 0.597000 18 18 0 0 0.667858 0 0 IGHA1 3493 broad.mit.edu 37 14 106174820 106174820 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:106174820C>T ENST00000390547.2 - 0 182 TGTACAGGTCCCCGGAGGCAT 0.642000 19 16 0 0 0.557998 0 0 CTCFL 140690 broad.mit.edu 37 20 56083820 56083820 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:56083820G>A ENST00000429804.2 - 8 1926 c.1366C>T c.(1366-1368)Cgt>Tgt p.R456C CTCFL_ENST00000422869.2_Missense_Mutation_p.R506C|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000433949.2_Missense_Mutation_p.R506C|CTCFL_ENST00000371196.2_Missense_Mutation_p.R506C|CTCFL_ENST00000502686.2_Missense_Mutation_p.R244C|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R506C|CTCFL_ENST00000539382.1_Missense_Mutation_p.R301C|CTCFL_ENST00000423479.2_Missense_Mutation_p.R506C|CTCFL_ENST00000432255.2_Missense_Mutation_p.R362C NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 506 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GTGTGGGTACGAATGTGAGCG 0.433000 23 31 0 0 0.750413 0 0 FNDC1 84624 broad.mit.edu 37 6 159687132 159687132 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:159687132G>A ENST00000297267.9 + 21 5501 c.5301G>A c.(5299-5301)tgG>tgA p.W1767* FNDC1_ENST00000340366.6_Nonsense_Mutation_p.W1704* NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1767 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) AGCCTATCTGGATCCCATTCG 0.493000 9 15 0 0 0.335167 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944829 43944829 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:43944829C>T ENST00000389420.3 - 2 335 c.336G>A c.(334-336)ccG>ccA p.P112P ADAMTS20_ENST00000553158.1_Silent_p.P112P NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 112 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) CCCCGCGCTCCGGGGTTCCCA 0.652000 9 12 0 0 0.387290 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555292 44555292 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:44555292C>T ENST00000330682.2 - 1 1157 c.922G>A c.(922-924)Gaa>Aaa p.E308K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 308 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 AAAGCAGCTTCCTCCTGGAGC 0.637000 11 293 0 0 0.435327 0 0 MUC16 94025 broad.mit.edu 37 19 9057066 9057066 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9057066G>A ENST00000397910.4 - 3 30583 c.30380C>T c.(30379-30381)tCc>tTc p.S10127F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10129 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTAGCCTTGGATGGCTCCGA 0.468000 4 20 0 0 0.150653 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363572 21363572 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:21363572C>T ENST00000452284.1 + 0 1239 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 TGTAGGGCTCCGTCATGGCCA 0.557000 33 57 0 0 0.840704 0 0 IGF2R 3482 broad.mit.edu 37 6 160485503 160485503 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:160485503C>T ENST00000356956.1 + 28 4105 c.3957C>T c.(3955-3957)tgC>tgT p.C1319C NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1319 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GGGACACTTGCCATAAGGTTT 0.512000 40 55 0 0 0.864702 0 0 CD93 22918 broad.mit.edu 37 20 23065072 23065072 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:23065072G>A ENST00000246006.4 - 1 1905 c.1758C>T c.(1756-1758)atC>atT p.I586I NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 586 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGGTGCCTAGGATGTAGAATA 0.597000 48 43 0 0 0.870114 0 0 COL3A1 1281 broad.mit.edu 37 2 189875409 189875409 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:189875409C>T ENST00000304636.3 + 50 4217 c.4047C>T c.(4045-4047)gtC>gtT p.V1349V COL3A1_ENST00000317840.5_Silent_p.V1046V NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1349 Fibrillar collagen NC1. 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) CTGAAGATGTCCTTGATGTGC 0.438000 9 109 0 0 0.779181 0 0 DNAH17 8632 broad.mit.edu 37 17 76548870 76548870 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:76548870C>T ENST00000389840.5 - 15 2320 c.2196G>A c.(2194-2196)aaG>aaA p.K732K DNAH17_ENST00000585328.1_Silent_p.K732K dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATTCTACTGCCTTCACTATAG 0.393000 18 88 0 0 0.539581 0 0 BCL2L11 10018 broad.mit.edu 37 2 111907670 111907670 + Silent SNP C C T rs143377281 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:111907670C>T ENST00000393256.3 + 3 717 c.444C>T c.(442-444)atC>atT p.I148I BCL2L11_ENST00000393253.2_Silent_p.I58I|BCL2L11_ENST00000357757.2_Silent_p.I148I|BCL2L11_ENST00000308659.8_Silent_p.I88I NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 148 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 AGATATGGATCGCCCAAGAGT 0.473000 27 20 0 0 0.769981 0 0 GPR174 84636 broad.mit.edu 37 X 78427035 78427035 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:78427035C>T ENST00000276077.1 + 1 567 c.531C>T c.(529-531)gtC>gtT p.V177V NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 177 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 CCAGGAATGTCAACCTGGCCC 0.463000 HNSCC(63;0.18) 19 28 0 0 0.639603 0 0 DSC2 1824 broad.mit.edu 37 18 28651784 28651784 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:28651784G>A ENST00000280904.6 - 13 2355 c.1912C>T c.(1912-1914)Cag>Tag p.Q638* DSC2_ENST00000251081.6_Nonsense_Mutation_p.Q638* NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 638 Cadherin 5. Q -> H. 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) GGATCATTCTGATAGGAAAGA 0.348000 17 23 0 0 0.624587 0 0 SVEP1 79987 broad.mit.edu 37 9 113170022 113170022 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:113170022C>T ENST00000401783.2 - 38 8194 c.7858G>A c.(7858-7860)Gat>Aat p.D2620N SVEP1_ENST00000374469.1_Missense_Mutation_p.D2597N|SVEP1_ENST00000297826.5_Missense_Mutation_p.D546N NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2620 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTCCAAAATCTATATGAGGA 0.463000 85 30 0 0 0.870114 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121792 117121792 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:117121792G>A ENST00000310357.3 - 4 1524 c.1503C>T c.(1501-1503)ttC>ttT p.F501F GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Silent_p.F326F NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 501 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CTGGGATGATGAAGACATCAT 0.408000 26 48 0 0 0.740014 0 0 SLC6A5 9152 broad.mit.edu 37 11 20636271 20636271 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:20636271G>A ENST00000525748.1 + 6 1305 c.1032G>A c.(1030-1032)tcG>tcA p.S344S NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 344 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.S344S(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) TCAAGAACTCGACTTTCTGCA 0.408000 55 31 0 0 0.870114 0 0 PEX6 5190 broad.mit.edu 37 6 42946034 42946034 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:42946034G>A ENST00000304611.8 - 1 924 c.855C>T c.(853-855)ccC>ccT p.P285P PEX6_ENST00000244546.4_Silent_p.P285P NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 285 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CCATTTCCAGGGGGTCACAGC 0.537000 20 29 0 0 0.667858 0 0 ZNF560 147741 broad.mit.edu 37 19 9578939 9578939 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9578939G>A ENST00000301480.4 - 10 897 c.684C>T c.(682-684)tgC>tgT p.C228C NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TGGTCTTAAGGCATGGATGTT 0.373000 13 50 0 0 0.479597 0 0 GRIK5 2901 broad.mit.edu 37 19 42507571 42507571 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:42507571G>A ENST00000262895.3 - 18 2426 c.2427C>T c.(2425-2427)atC>atT p.I809I GRIK5_ENST00000593562.1_Silent_p.I809I|GRIK5_ENST00000301218.4_Silent_p.I809I NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 809 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) AGATGAGCACGATAAAAATGC 0.587000 9 52 0 0 0.307466 0 0 ZNF711 7552 broad.mit.edu 37 X 84526218 84526218 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:84526218G>A ENST00000360700.4 + 10 2694 c.1808G>A c.(1807-1809)gGt>gAt p.G603D ZNF711_ENST00000395402.1_Missense_Mutation_p.G565D|ZNF711_ENST00000276123.3_Missense_Mutation_p.G557D|ZNF711_ENST00000542798.1_Missense_Mutation_p.G399D|ZNF711_ENST00000373165.3_Missense_Mutation_p.G557D Q9Y462 ZN711_HUMAN zinc finger protein 711 557 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TCTAAACATGGTAACAATTTG 0.398000 6 8 0 0 0.278610 0 0 EDN3 1908 broad.mit.edu 37 20 57876727 57876727 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:57876727G>A ENST00000311585.7 + 2 685 c.315G>A c.(313-315)aaG>aaA p.K105K EDN3_ENST00000371028.2_Silent_p.K105K|EDN3_ENST00000371025.3_Silent_p.K105K|EDN3_ENST00000337938.2_Silent_p.K105K|EDN3_ENST00000395654.3_Silent_p.K105K NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 105 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) ACAAGGACAAGGAGTGTGTCT 0.612000 64 59 0 0 0.870114 0 0 CENPE 1062 broad.mit.edu 37 4 104029996 104029996 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:104029996G>A ENST00000265148.3 - 48 8064 c.7975C>T c.(7975-7977)Cgc>Tgc p.R2659C CENPE_ENST00000380026.3_Missense_Mutation_p.R2538C NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2659 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity p.R2622C(1) NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCAAAATAGCGAACTGGATGA 0.368000 27 7 0 0 0.729181 0 0 BRCA1 672 broad.mit.edu 37 17 41244176 41244176 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:41244176G>A ENST00000309486.4 - 9 3511 c.2484C>T c.(2482-2484)ttC>ttT p.F828F BRCA1_ENST00000471181.2_Silent_p.F1124F|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Silent_p.F1124F|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Silent_p.F1124F|BRCA1_ENST00000493795.1_Silent_p.F1077F|BRCA1_ENST00000354071.3_Silent_p.F1124F|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1124 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) GATATGGAGAGAAATCTGTAT 0.373000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 42 31 0 0 0.864702 0 0 KHDC3L 154288 broad.mit.edu 37 6 74072880 74072880 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:74072880C>T ENST00000370367.3 + 2 285 c.232C>T c.(232-234)Cga>Tga p.R78* NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member TCACGTGAATCGATTGGACCC 0.572000 40 52 0 0 0.870114 0 0 INSRR 3645 broad.mit.edu 37 1 156819156 156819156 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:156819156G>A ENST00000368195.3 - 6 1722 c.1326C>T c.(1324-1326)ttC>ttT p.F442F NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 442 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTTGAAGGCGAAGTAGATCT 0.602000 105 30 0 0 0.870114 0 0 MUC5B 727897 broad.mit.edu 37 11 1274045 1274045 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:1274045G>A ENST00000447027.1 + 33 15119 c.15061G>A c.(15061-15063)Gag>Aag p.E5021K MUC5B_ENST00000529681.1_Missense_Mutation_p.E5018K Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 5018 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGGTGAATGAGACCTGGAC 0.647000 8 5 0 0 0.361761 0 0 CCDC148 130940 broad.mit.edu 37 2 159166097 159166097 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:159166097T>C ENST00000283233.5 - 9 1271 c.958A>G c.(958-960)Atc>Gtc p.I320V CCDC148_ENST00000409187.1_Missense_Mutation_p.I329V|CCDC148_ENST00000536771.1_Missense_Mutation_p.I234V NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 320 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GATATCAGGATATTTTGCTGC 0.363000 13 24 0 0 0.479597 0 0 GAB3 139716 broad.mit.edu 37 X 153925421 153925421 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:153925421G>A ENST00000369575.3 - 7 1441 c.1410C>T c.(1408-1410)acC>acT p.T470T GAB3_ENST00000424127.2_Silent_p.T471T|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 470 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) GCACAGTGCGGGTCCTGGTAA 0.522000 7 45 0 0 0.335167 0 0 CT47B1 643311 broad.mit.edu 37 X 120008801 120008801 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:120008801C>T ENST00000371311.3 - 1 978 c.724G>A c.(724-726)Gag>Aag p.E242K NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 242 p.K235_E243delKLTEEATEE(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GCCGGTtcctctgtggcctcc 0.682000 9 80 0 0 0.361761 0 0 EPPK1 83481 broad.mit.edu 37 8 144940333 144940333 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:144940333G>A ENST00000525985.1 - 2 7160 c.7089C>T c.(7087-7089)taC>taT p.Y2363Y P58107 EPIPL_HUMAN epiplakin 1 2363 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCGCGCCGGTAGGCCACGT 0.692000 12 340 0 0 0.592651 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302295 128302295 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:128302295C>T ENST00000262462.4 + 1 1475 c.465C>T c.(463-465)gcC>gcT p.A155A SLC27A6_ENST00000506176.1_Silent_p.A155A|SLC27A6_ENST00000395266.1_Silent_p.A155A Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 155 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GGCCCAGAGCCCTAGTGGTGG 0.552000 12 6 0 0 0.539581 0 0 CD207 50489 broad.mit.edu 37 2 71060133 71060133 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:71060133G>A ENST00000410009.3 - 4 660 c.615C>T c.(613-615)aaC>aaT p.N205N NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 205 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 AGTAATAGAAGTTCCCCTTGA 0.448000 24 16 0 0 0.681144 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973775 120973775 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:120973775C>T ENST00000273666.6 + 16 1746 c.1475C>T c.(1474-1476)tCa>tTa p.S492L STXBP5L_ENST00000497029.1_Missense_Mutation_p.S492L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S492L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S492L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S492L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 492 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CTAAAAACTTCAAAAGTGTTT 0.338000 24 10 0 0 0.693898 0 0 KLHL24 54800 broad.mit.edu 37 3 183381296 183381296 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:183381296T>C ENST00000454652.1 + 5 1357 c.971T>C c.(970-972)gTt>gCt p.V324A KLHL24_ENST00000242810.6_Missense_Mutation_p.V324A|KLHL24_ENST00000476808.1_Missense_Mutation_p.V324A Q6TFL4 KLH24_HUMAN kelch-like family member 24 324 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) TGTGAGCGAGTTGGAGGATTT 0.363000 73 93 0 0 0.870114 0 0 TRMT2B 79979 broad.mit.edu 37 X 100290673 100290673 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:100290673C>T ENST00000338687.7 - 6 1209 c.e6-1 TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site|TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000478422.1_Splice_Site Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 ACGTTCCCATCTATGGAAAGA 0.363000 7 50 0 0 0.307466 0 0 VEGFC 7424 broad.mit.edu 37 4 177608435 177608435 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:177608435G>A ENST00000280193.2 - 6 1466 c.1051C>T c.(1051-1053)Caa>Taa p.Q351* RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 351 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity p.Q351*(1) biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTTAGGGGTTGATTTCTGGGG 0.428000 66 35 0 0 0.870114 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325268 150325268 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:150325268G>A ENST00000328902.5 - 3 634 c.418C>T c.(418-420)Cag>Tag p.Q140* GIMAP6_ENST00000493969.1_3'UTR NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 140 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCACCTGCTGATCCTCATCC 0.637000 21 47 0 0 0.639603 0 0 PDE1B 5153 broad.mit.edu 37 12 54943752 54943752 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:54943752G>A ENST00000243052.3 + 2 532 c.96G>A c.(94-96)tgG>tgA p.W32* NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 32 Calmodulin-binding (Potential). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 AGAAGATGTGGATTAAGCTTC 0.632000 20 21 0 0 0.608945 0 0 KCNK1 3775 broad.mit.edu 37 1 233807084 233807084 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:233807084G>A ENST00000366621.3 + 3 987 c.819G>A c.(817-819)ctG>ctA p.L273L KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.L157L NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 273 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TCCATGAGCTGAAAAAATTCA 0.448000 37 11 0 0 0.812448 0 0 CCBE1 147372 broad.mit.edu 37 18 57107031 57107031 + Missense_Mutation SNP C C G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:57107031C>G ENST00000439986.4 - 8 830 c.793G>C c.(793-795)Gga>Cga p.G265R CCBE1_ENST00000398179.2_Intron NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 265 Collagen-like 1. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CCTGGGCTTCCCTTTGGTCCT 0.587000 3 8 0 0 0.184627 0 0 XKR3 150165 broad.mit.edu 37 22 17288891 17288891 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:17288891G>A ENST00000331428.5 - 2 175 c.73C>T c.(73-75)Ctt>Ttt p.L25F NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 25 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTCTGGCCAAGGACTATTTCT 0.403000 39 62 0 0 0.870114 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214080 140214080 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140214080G>A ENST00000525929.1 + 1 112 c.112G>A c.(112-114)Gag>Aag p.E38K PCDHA7_ENST00000378125.3_Missense_Mutation_p.E38K|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 p.E38K(2)|p.E38*(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCCCCGAGGAGGCTAAACA 0.617000 52 15 0 0 0.870114 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21457496 21457496 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:21457496C>T ENST00000307378.6 - 7 1174 c.454G>A c.(454-456)Gaa>Aaa p.E152K SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E152K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E150K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E20K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E20K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 152 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.E152Q(1)|p.E152K(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GATTTAACTTCCTTTGTACAC 0.358000 14 49 0 0 0.575678 0 0 IGHD 3495 broad.mit.edu 37 14 106311833 106311833 + RNA SNP C C A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:106311833C>A ENST00000390556.2 - 0 177 GTAGCTGTCCCGTCTTTGTAT 0.582000 19 25 5.35356e-11 5.40267e-11 0.639603 1 0 ABCA13 154664 broad.mit.edu 37 7 48559846 48559846 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:48559846C>T ENST00000435803.1 + 53 14031 c.14007C>T c.(14005-14007)ctC>ctT p.L4669L ABCA13_ENST00000544596.1_Silent_p.L399L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4669 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAGTACTTCTCCTCTTGAGGG 0.522000 19 23 0 0 0.575678 0 0 A2M 2 broad.mit.edu 37 12 9262479 9262479 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:9262479G>A ENST00000318602.7 - 6 964 c.657C>T c.(655-657)ttC>ttT p.F219F NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 219 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) CCTCCACGGTGAAAGGGTGCT 0.428000 52 61 0 0 0.870114 0 0 FER1L6 654463 broad.mit.edu 37 8 125076659 125076659 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:125076659C>T ENST00000522917.1 + 26 3606 c.3400C>T c.(3400-3402)Cac>Tac p.H1134Y FER1L6_ENST00000399018.1_Missense_Mutation_p.H1134Y|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1134 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCAGCAGATCACATTTATGT 0.572000 57 77 0 0 0.870114 0 0 TNXB 7148 broad.mit.edu 37 6 32026050 32026050 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:32026050G>A ENST00000375244.3 - 22 7811 c.7610C>T c.(7609-7611)tCg>tTg p.S2537L TNXB_ENST00000375247.2_Missense_Mutation_p.S2537L P22105 TENX_HUMAN tenascin XB 2597 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AAGGCTCAGCGAGTCAGGGGA 0.687000 7 46 0 0 0.335167 0 0 SGCZ 137868 broad.mit.edu 37 8 14412268 14412268 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:14412268C>T ENST00000382080.1 - 2 922 c.207G>A c.(205-207)tgG>tgA p.W69* SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W56* NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 56 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma 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) CTTTCAATATCCATATTGTCA 0.353000 12 34 0 0 0.435327 0 0 HLCS 3141 broad.mit.edu 37 21 38302642 38302642 + Missense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:38302642A>T ENST00000399120.1 - 6 2318 c.1088T>A c.(1087-1089)gTc>gAc p.V363D HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.V363D NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 363 V -> D (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)). cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CTCTCTAAGGACTTCGTATCT 0.458000 11 25 0 0 0.361761 0 0 KIF15 56992 broad.mit.edu 37 3 44844305 44844305 + Splice_Site SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:44844305G>A ENST00000326047.4 + 14 1658 c.e14-1 KIF15_ENST00000425755.1_Splice_Site NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CTATGTCACAGATAGAGCACC 0.383000 42 57 0 0 0.870114 0 0 PSG3 5671 broad.mit.edu 37 19 43242944 43242944 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:43242944G>A ENST00000327495.5 - 2 546 c.362C>T c.(361-363)aCc>aTc p.T121I PSG3_ENST00000595140.1_Missense_Mutation_p.T121I|PSG3_ENST00000490592.1_5'UTR NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 121 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GATGTGTAAGGTGTAGGATCC 0.483000 162 116 0 0 0.870114 0 0 MYH2 4620 broad.mit.edu 37 17 10448697 10448697 + Silent SNP G G A rs149579742 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:10448697G>A ENST00000245503.5 - 5 855 c.471C>T c.(469-471)tcC>tcT p.S157S MYH2_ENST00000397183.2_Silent_p.S157S|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.S157S NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 157 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S157S(1) 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 TGTCAGAGATGGAGAAGATGT 0.537000 41 207 0 0 0.870114 0 0 ZNF80 7634 broad.mit.edu 37 3 113955903 113955903 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:113955903C>T ENST00000482457.2 - 1 522 c.19G>A c.(19-21)Ggg>Agg p.G7R NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 7 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GTCCCCAACCCATCGCGTTTA 0.527000 37 86 0 0 0.870114 0 0 KCNH1 3756 broad.mit.edu 37 1 210857382 210857382 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:210857382G>A ENST00000367007.4 - 11 2299 c.2130C>T c.(2128-2130)gtC>gtT p.V710V KCNH1_ENST00000271751.4_Silent_p.V737V NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 737 Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) AGAGGCGCCGGACAGGGTGGT 0.577000 25 7 0 0 0.740014 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152492 50152492 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:50152492C>T ENST00000284509.6 - 28 3619 c.3478G>A c.(3478-3480)Gaa>Aaa p.E1160K ATP8B4_ENST00000559829.1_Missense_Mutation_p.E1160K NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1160 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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGTGTCTTTTCCAGCCCTGAT 0.418000 43 50 0 0 0.870114 0 0 ZPLD1 131368 broad.mit.edu 37 3 102189262 102189262 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:102189262G>A ENST00000306176.1 + 9 1106 c.1006G>A c.(1006-1008)Gat>Aat p.D336N ZPLD1_ENST00000491959.1_Missense_Mutation_p.D320N|ZPLD1_ENST00000466937.1_Missense_Mutation_p.D320N NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 320 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 AGAAAGGAGAGATGCTGGGAG 0.512000 19 40 0 0 0.639603 0 0 TTN 7273 broad.mit.edu 37 2 179457996 179457996 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:179457996C>T ENST00000589042.1 - 299 59163 c.58939G>A c.(58939-58941)Gga>Aga p.G19647R TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10774R|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17079R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18006R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10582R|TTN_ENST00000359218.5_Missense_Mutation_p.G10707R|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18006 Fibronectin type-III 42. 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) TACTGACATCCTTCTAGAAGA 0.398000 28 41 0 0 0.717897 0 0 DPPA2 151871 broad.mit.edu 37 3 109023446 109023446 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:109023446G>A ENST00000478945.1 - 7 976 c.730C>T c.(730-732)Cat>Tat p.H244Y NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 244 nucleus nucleic acid binding p.H244Y(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGACCTGCATGAAACTGCAGG 0.502000 33 47 0 0 0.853193 0 0 RRP9 9136 broad.mit.edu 37 3 51967557 51967557 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:51967557G>A ENST00000232888.6 - 15 1466 c.1393C>T c.(1393-1395)Cgc>Tgc p.R465C NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 465 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) GGGACCCTGCGGAGTGGGATG 0.552000 26 47 0 0 0.740014 0 0 ARL13A 392509 broad.mit.edu 37 X 100243250 100243250 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:100243250A>G ENST00000450049.2 + 7 835 c.722A>G c.(721-723)aAg>aGg p.K241R NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 241 GTP binding endometrium(1)|ovary(1) 2 ATCGAAGCTAAGCCTCTAAAG 0.448000 4 7 0 0 0.184627 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725506 140725506 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140725506G>A ENST00000253812.6 + 1 1906 c.1906G>A c.(1906-1908)Gac>Aac p.D636N 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) GCTGGACAGAGACGCGCTCAA 0.706000 30 30 0 0 0.827153 0 0 DMRTA1 63951 broad.mit.edu 37 9 22451440 22451440 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:22451440C>T ENST00000325870.1 + 2 1270 c.1045C>T c.(1045-1047)Cta>Tta p.L349L NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 349 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) AGAAGGCATTCTACGGTTCTG 0.468000 29 14 0 0 0.819951 0 0 SI 6476 broad.mit.edu 37 3 164739070 164739070 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:164739070G>A ENST00000264382.3 - 27 3263 c.3201C>T c.(3199-3201)atC>atT p.I1067I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1067 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) GATTTTCCTTGATTTCCACAT 0.343000 HNSCC(35;0.089) 61 93 0 0 0.870114 0 0 ANK3 288 broad.mit.edu 37 10 61829606 61829606 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:61829606G>A ENST00000280772.1 - 37 11224 c.11033C>T c.(11032-11034)cCt>cTt p.P3678L ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3678 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTCCACTGTAGGTGTCTCTAC 0.542000 21 5 0 0 0.608945 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138202424 138202424 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:138202424G>A ENST00000237289.4 + 9 2407 c.2341G>A c.(2341-2343)Gaa>Aaa p.E781K NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 781 anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTACTGCAACGAATGCTTTCA 0.592000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 39 84 0 0 0.870114 0 0 MYOM2 9172 broad.mit.edu 37 8 2037890 2037890 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:2037890G>A ENST00000262113.4 + 15 1845 c.1704G>A c.(1702-1704)ccG>ccA p.P568P MYOM2_ENST00000523438.1_5'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 568 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGAGATCCCCGAGATATGCCG 0.562000 37 18 0 0 0.804634 0 0 UNC13A 23025 broad.mit.edu 37 19 17780454 17780454 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:17780454G>A ENST00000428389.2 - 6 565 c.566C>T c.(565-567)tCc>tTc p.S189F UNC13A_ENST00000552293.1_Missense_Mutation_p.S101F|UNC13A_ENST00000551649.1_Missense_Mutation_p.S101F|UNC13A_ENST00000550896.1_Missense_Mutation_p.S101F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S101F|UNC13A_ENST00000519716.2_Missense_Mutation_p.S101F Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 101 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GATGACCTGGGAGTCCAGCGT 0.617000 3 9 0 0 0.150653 0 0 PAM 5066 broad.mit.edu 37 5 102203051 102203051 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:102203051C>T ENST00000438793.3 + 2 634 c.164C>T c.(163-165)tCa>tTa p.S55L PAM_ENST00000304400.7_Missense_Mutation_p.S55L|PAM_ENST00000348126.2_Missense_Mutation_p.S55L|PAM_ENST00000513648.1_3'UTR|PAM_ENST00000274392.9_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.S55L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.S55L NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 55 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) ATTGATTCATCAGATTTTGCA 0.363000 26 17 0 0 0.729181 0 0 KLHL15 80311 broad.mit.edu 37 X 24006881 24006881 + Silent SNP G G A rs144704626 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:24006881G>A ENST00000328046.8 - 4 1227 c.972C>T c.(970-972)atC>atT p.I324I NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 324 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 AATTATTGACGATAGCAAGGC 0.468000 24 24 0 0 0.760397 0 0 USP6 9098 broad.mit.edu 37 17 5058737 5058737 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:5058737C>T ENST00000574788.1 + 31 4894 c.2664C>T c.(2662-2664)ttC>ttT p.F888F USP6_ENST00000304328.5_Silent_p.F571F|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Silent_p.F888F P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 888 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 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 AACTGTATTTCCTGTCACCTC 0.458000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 26 75 0 0 0.740014 0 0 FAM194A 131831 broad.mit.edu 37 3 150391765 150391765 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:150391765G>A ENST00000295910.6 - 11 1373 c.1321C>T c.(1321-1323)Cca>Tca p.P441S FAM194A_ENST00000491361.1_Missense_Mutation_p.P295S NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 441 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTCCCATCTGGAAATGAAGTC 0.338000 31 53 0 0 0.804634 0 0 MXRA5 25878 broad.mit.edu 37 X 3228885 3228885 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:3228885C>T ENST00000217939.6 - 7 7513 c.7359G>A c.(7357-7359)cgG>cgA p.R2453R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2453 Ig-like C2-type 9. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGCTATCTCCCGCACAGTGG 0.587000 10 10 0 0 0.387290 0 0 SPTBN2 6712 broad.mit.edu 37 11 66458874 66458874 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:66458874G>A ENST00000533211.1 - 27 5777 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1816W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1816W O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1816 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 TGCTGCACCCGCGCCAGGGCT 0.692000 17 7 0 0 0.539581 0 0 CHD8 57680 broad.mit.edu 37 14 21883941 21883941 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:21883941G>A ENST00000399982.2 - 5 1906 c.1842C>T c.(1840-1842)ctC>ctT p.L614L CHD8_ENST00000557364.1_Silent_p.L614L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L335L NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 614 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CTGGTTCAGGGAGGATAGGCT 0.433000 20 11 0 0 0.624587 0 0 MYO1H 283446 broad.mit.edu 37 12 109874332 109874332 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:109874332G>A ENST00000310903.5 + 22 2238 c.2132G>A c.(2131-2133)aGg>aAg p.R711K MYO1H_ENST00000431443.2_Missense_Mutation_p.R721K B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TGCCTAGGAAGGAGAGAATAC 0.408000 5 9 0 0 0.248553 0 0 XKR9 389668 broad.mit.edu 37 8 71646559 71646559 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:71646559G>A ENST00000408926.3 + 5 1556 c.1022G>A c.(1021-1023)gGg>gAg p.G341E XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.G341E NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 341 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GTTTATTATGGGAGTTTTCAC 0.313000 6 13 0 0 0.248553 0 0 PREX1 57580 broad.mit.edu 37 20 47249085 47249085 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:47249085G>A ENST00000396220.1 - 34 4382 c.4360C>T c.(4360-4362)Cgc>Tgc p.R1454C PREX1_ENST00000371941.3_Missense_Mutation_p.R1454C Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1454 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCCTCCAGGCGGGAGGGCAGC 0.647000 12 24 0 0 0.435327 0 0 CDC25B 994 broad.mit.edu 37 20 3779059 3779059 + Splice_Site SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:3779059G>A ENST00000245960.5 + 3 1026 c.328_splice c.e3-1 p.G110_splice CDC25B_ENST00000344256.6_Splice_Site_p.G46_splice|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Splice_Site_p.G96_splice|CDC25B_ENST00000379598.5_Splice_Site_p.G46_splice|CDC25B_ENST00000340833.4_Splice_Site_p.G110_splice NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 110 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 GTCCCCTCAGGTCTCTGCATG 0.463000 45 98 0 0 0.870114 0 0 MUC16 94025 broad.mit.edu 37 19 9084492 9084492 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9084492G>A ENST00000397910.4 - 1 7526 c.7323C>T c.(7321-7323)tcC>tcT p.S2441S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2441 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACCCACATTGGAGCCCCCAT 0.498000 6 22 0 0 0.217242 0 0 ZNF30 90075 broad.mit.edu 37 19 35434914 35434914 + Missense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:35434914A>T ENST00000439785.1 + 5 1491 c.1047A>T c.(1045-1047)gaA>gaT p.E349D ZNF30_ENST00000426813.2_Missense_Mutation_p.E267D|ZNF30_ENST00000601142.1_Missense_Mutation_p.E348D|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.E349D NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) AATGTAAGGAATGTGGAAAGG 0.443000 6 44 0 0 0.248553 0 0 HACE1 57531 broad.mit.edu 37 6 105280966 105280966 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:105280966G>A ENST00000262903.4 - 6 761 c.485C>T c.(484-486)gCc>gTc p.A162V HACE1_ENST00000369125.2_Missense_Mutation_p.A162V|RP11-809N15.2_ENST00000422930.1_RNA NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 162 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity p.A162V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) CTGCCCCATGGCATCCTCAAC 0.468000 32 48 0 0 0.796494 0 0 SULT2B1 6820 broad.mit.edu 37 19 49102445 49102445 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:49102445G>A ENST00000323090.4 + 6 1210 c.835G>A c.(835-837)Gat>Aat p.D279N SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.D294N NM_004605.2 NP_004596.2 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 294 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) CGAAGCCTTCGATCGTGCCTA 0.667000 8 3 0 0 0.335167 0 0 CLDN6 9074 broad.mit.edu 37 16 3065827 3065827 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:3065827C>T ENST00000396925.1 - 3 624 c.196G>A c.(196-198)Gtg>Atg p.V66M CLDN6_ENST00000328796.4_Missense_Mutation_p.V66M|CLDN6_ENST00000572154.1_Intron P56747 CLD6_HUMAN claudin 6 66 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GAGTCGTACACCTTGCACTGC 0.637000 46 16 0 0 0.870114 0 0 DDX31 64794 broad.mit.edu 37 9 135545422 135545422 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:135545422C>T ENST00000372159.3 - 1 366 c.215G>A c.(214-216)aGg>aAg p.R72K DDX31_ENST00000310532.2_Missense_Mutation_p.R72K|GTF3C4_ENST00000483873.2_5'UTR|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Missense_Mutation_p.R72K|GTF3C4_ENST00000372146.4_5'UTR NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 72 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GCCACCGCCCCTTCCGGGTCC 0.756000 3 0 0 0 0.150653 0 0 BAZ2A 11176 broad.mit.edu 37 12 57007849 57007849 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:57007849G>A ENST00000179765.5 - 5 913 c.714C>T c.(712-714)gtC>gtT p.V238V BAZ2A_ENST00000551812.1_Silent_p.V270V|BAZ2A_ENST00000549884.1_Silent_p.V268V|BAZ2A_ENST00000379441.3_Silent_p.V240V Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 270 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TGGGGTCAGGGACCAGGACTG 0.488000 27 73 0 0 0.750413 0 0 MYH2 4620 broad.mit.edu 37 17 10442632 10442632 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:10442632C>T ENST00000245503.5 - 14 1690 c.1306G>A c.(1306-1308)Gag>Aag p.E436K MYH2_ENST00000397183.2_Missense_Mutation_p.E436K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E436K NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 436 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E436*(1) 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 AACATCTTCTCGTAGACGGCT 0.483000 35 130 0 0 0.847076 0 0 PKD1L1 168507 broad.mit.edu 37 7 47876654 47876654 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:47876654G>A ENST00000289672.2 - 37 5858 c.5808C>T c.(5806-5808)ttC>ttT p.F1936F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1936 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 GCCAGACATGGAAATCCTCCA 0.552000 18 39 0 0 0.592651 0 0 SUGP1 57794 broad.mit.edu 37 19 19414819 19414819 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:19414819G>A ENST00000334782.5 - 5 584 c.572C>T c.(571-573)cCc>cTc p.P191L SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 114 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CCATGACGAGGGGGGAGTCGG 0.572000 88 66 0 0 0.870114 0 0 KDR 3791 broad.mit.edu 37 4 55984957 55984957 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:55984957C>T ENST00000263923.4 - 3 467 c.172G>A c.(172-174)Gac>Aac p.D58N NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 58 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CAGTCCAAGTCCCTCTGTCCC 0.438000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 29 14 0 0 0.804634 0 0 SLFN13 146857 broad.mit.edu 37 17 33771893 33771893 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:33771893C>T ENST00000285013.6 - 3 1082 c.807G>A c.(805-807)ttG>ttA p.L269L SLFN13_ENST00000526861.1_Silent_p.L269L|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Silent_p.L269L|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.L269L NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 269 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TTACATTTTTCAAAGAGTCAG 0.403000 65 53 0 0 0.870114 0 0 FBP2 8789 broad.mit.edu 37 9 97333797 97333797 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:97333797T>C ENST00000375337.3 - 4 580 c.514A>G c.(514-516)Acc>Gcc p.T172A NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 172 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) GCCACCAGGGTTGCACTACCG 0.572000 32 14 0 0 0.819951 0 0 ITIH2 3698 broad.mit.edu 37 10 7768995 7768995 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:7768995G>A ENST00000358415.4 + 10 1233 c.1067G>A c.(1066-1068)cGa>cAa p.R356Q ITIH2_ENST00000379587.4_Missense_Mutation_p.R345Q NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 356 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CAGAACATTCGAACTTGGAGA 0.403000 30 11 0 0 0.796494 0 0 SELT 51714 broad.mit.edu 37 3 150344871 150344871 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:150344871G>A ENST00000471696.1 + 5 613 c.538G>A c.(538-540)Gaa>Aaa p.E180K SELT_ENST00000477889.1_Missense_Mutation_p.E122K|SELT_ENST00000480740.1_Missense_Mutation_p.E122K|SELT_ENST00000485923.1_Missense_Mutation_p.E122K NM_016275.3 NP_057359.2 P62341 SELT_HUMAN 180 cell redox homeostasis|selenocysteine incorporation selenium binding LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCTTGACAATGAAATGAAGCT 0.403000 53 79 0 0 0.870114 0 0 RALYL 138046 broad.mit.edu 37 8 85441693 85441693 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:85441693G>A ENST00000521268.1 + 2 1242 c.137G>A c.(136-138)gGa>gAa p.G46E RALYL_ENST00000522455.1_Missense_Mutation_p.G46E|RALYL_ENST00000517638.1_Missense_Mutation_p.G59E|RALYL_ENST00000518566.1_Missense_Mutation_p.G46E|RALYL_ENST00000521695.1_Missense_Mutation_p.G46E NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 46 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TCAAAGTATGGAAAAATAGTT 0.418000 10 12 0 0 0.411799 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186097 127186097 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:127186097C>T ENST00000371124.3 - 1 285 c.89G>A c.(88-90)gGa>gAa p.G30E NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 30 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 ATGGCGGGGTCCAATCTCTCC 0.448000 17 15 0 0 0.557998 0 0 ZFP90 146198 broad.mit.edu 37 16 68597632 68597632 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:68597632C>T ENST00000570495.1 + 5 1234 c.942C>T c.(940-942)ctC>ctT p.L314L RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Silent_p.L314L|ZFP90_ENST00000398253.2_Silent_p.L314L Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 314 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGTGTAGTCTCTGTGGGAAAG 0.483000 28 12 0 0 0.750413 0 0 KCNC3 3748 broad.mit.edu 37 19 50823849 50823849 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:50823849C>T ENST00000376959.2 - 3 2334 c.e3+1 KCNC3_ENST00000474951.1_Splice_Site|KCNC3_ENST00000391818.2_Splice_Site|KCNC3_ENST00000477616.1_Splice_Site Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GGGCACCTCACCTTTTCGGAT 0.672000 9 6 0 0 0.361761 0 0 BEND4 389206 broad.mit.edu 37 4 42145696 42145696 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:42145696G>A ENST00000502486.1 - 3 1382 c.803C>T c.(802-804)tCg>tTg p.S268L BEND4_ENST00000504360.1_Missense_Mutation_p.S264L NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 268 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 ACTGGCTGACGAGGGGTTTGG 0.493000 13 6 0 0 0.479597 0 0 ESPL1 9700 broad.mit.edu 37 12 53683351 53683351 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:53683351C>T ENST00000257934.4 + 22 5177 c.5086C>T c.(5086-5088)Cag>Tag p.Q1696* ESPL1_ENST00000552462.1_Nonsense_Mutation_p.Q1696* NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1696 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GGAGAGTTTCCAGGAGCGCCT 0.602000 17 22 0 0 0.654019 0 0 HTR4 3360 broad.mit.edu 37 5 147900490 147900490 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:147900490G>A ENST00000362016.2 - 6 707 c.544C>T c.(544-546)Cat>Tat p.H182Y HTR4_ENST00000354217.2_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000360693.3_Intron Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 169 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) CATACCGCATGAAAATCCTGG 0.448000 36 16 0 0 0.870114 0 0 TNXB 7148 broad.mit.edu 37 6 32052356 32052356 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:32052356C>T ENST00000375244.3 - 8 3480 c.3279G>A c.(3277-3279)gtG>gtA p.V1093V TNXB_ENST00000375247.2_Silent_p.V1093V P22105 TENX_HUMAN tenascin XB 1180 Fibronectin type-III 3. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGTACTGGATCACGAAGGAGT 0.657000 10 23 0 0 0.435327 0 0 CDRT1 374286 broad.mit.edu 37 17 15519013 15519013 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:15519013G>A ENST00000455584.2 - 8 1589 c.1546C>T c.(1546-1548)Cct>Tct p.P516S CDRT1_ENST00000395906.3_Missense_Mutation_p.P206S TTGGACAAAGGAAGGGATGTG 0.488000 14 13 0 0 0.654019 0 0 MUC16 94025 broad.mit.edu 37 19 9082794 9082794 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9082794G>A ENST00000397910.4 - 1 9224 c.9021C>T c.(9019-9021)acC>acT p.T3007T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3008 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGCAAGAGAGGTCGATGTCA 0.488000 7 56 0 0 0.307466 0 0 MUC16 94025 broad.mit.edu 37 19 9086687 9086687 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9086687C>T ENST00000397910.4 - 1 5331 c.5128G>A c.(5128-5130)Gaa>Aaa p.E1710K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1710 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGACTCCTTCAGTAGTTGAC 0.488000 50 24 0 0 0.870114 0 0 ADAM7 8756 broad.mit.edu 37 8 24300035 24300035 + Silent SNP G G A rs146117431 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:24300035G>A ENST00000175238.6 + 2 185 c.102G>A c.(100-102)aaG>aaA p.K34K RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Silent_p.K34K|ADAM7_ENST00000441335.2_Silent_p.K34K|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 34 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GTCCTAAAAAGCTTCCTCTGA 0.393000 65 159 0 0 0.870114 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138418934 138418934 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:138418934G>A ENST00000310018.2 - 16 1920 c.1638C>T c.(1636-1638)atC>atT p.I546I ATP6V0A4_ENST00000393054.1_Silent_p.I546I|ATP6V0A4_ENST00000353492.4_Silent_p.I546I NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 546 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CAATTCCCAGGATCACCGACA 0.428000 20 25 0 0 0.624587 0 0 MUC2 4583 broad.mit.edu 37 11 1101046 1101046 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:1101046G>A ENST00000441003.2 + 41 7472 c.7445G>A c.(7444-7446)gGa>gAa p.G2482E NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4844 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CTGGAGGGTGGAAGTGGCATC 0.602000 15 7 0 0 0.500413 0 0 DSG1 1828 broad.mit.edu 37 18 28926037 28926037 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:28926037G>A ENST00000257192.4 + 14 2188 c.1976G>A c.(1975-1977)gGa>gAa p.G659E RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G18E NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 659 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTAACAGAGGGAGTTAAAACT 0.383000 16 27 0 0 0.520397 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914450 39914450 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:39914450C>T ENST00000425673.1 + 17 2915 c.2590C>T c.(2590-2592)Ctg>Ttg p.L864L PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Silent_p.L834L|PLEKHG2_ENST00000409794.3_Silent_p.L893L|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 893 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTCTGTCCCCCTGGGTCCTGC 0.567000 32 18 0 0 0.769981 0 0 TTN 7273 broad.mit.edu 37 2 179467100 179467100 + Silent SNP C C T rs62178963 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:179467100C>T ENST00000589042.1 - 283 55253 c.55029G>A c.(55027-55029)agG>agA p.R18343R TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.R9470R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.R15775R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.R16702R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.R9278R|TTN_ENST00000359218.5_Silent_p.R9403R|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16702 Fibronectin type-III 33. 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) ATCTGTACTTCCTGAGCTCTT 0.413000 12 47 0 0 0.457914 0 0 WWTR1 25937 broad.mit.edu 37 3 149290664 149290664 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:149290664G>A ENST00000465804.1 - 4 811 c.555C>T c.(553-555)tcC>tcT p.S185S WWTR1_ENST00000360632.3_Silent_p.S185S|WWTR1_ENST00000467467.1_Silent_p.S185S NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 185 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GATTTGGCTGGGATACTGCCA 0.468000 T CAMTA1 epitheliod hemangioendothelioma 35 40 0 0 0.796494 0 0 EPHA7 2045 broad.mit.edu 37 6 93956529 93956529 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:93956529G>A ENST00000369303.4 - 15 2891 c.2707C>T c.(2707-2709)Ccc>Tcc p.P903S NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 903 P -> S (in a metastatic melanoma sample; somatic mutation). integral to plasma membrane ATP binding|ephrin receptor activity p.P903S(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTTCCCAGGGGAGTTTTCAGA 0.403000 15 37 0 0 0.575678 0 0 DCC 1630 broad.mit.edu 37 18 51013265 51013265 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:51013265C>T ENST00000442544.2 + 26 4451 c.3835C>T c.(3835-3837)Ctc>Ttc p.L1279F DCC_ENST00000581580.1_Missense_Mutation_p.L914F|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1279 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCAGTTCACTCTCCGGCCTGT 0.542000 44 65 0 0 0.870114 0 0 DZIP1 22873 broad.mit.edu 37 13 96239829 96239829 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:96239829C>T ENST00000347108.3 - 18 2614 c.2182G>A c.(2182-2184)Gaa>Aaa p.E728K DZIP1_ENST00000361396.2_Missense_Mutation_p.E709K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E728K|DZIP1_ENST00000361156.3_Missense_Mutation_p.E709K Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 728 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TCCTCGATTTCGCTTCCCTCG 0.547000 88 30 0 0 0.870114 0 0 RYR3 6263 broad.mit.edu 37 15 33954484 33954484 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:33954484G>A ENST00000389232.4 + 35 4823 c.4753G>A c.(4753-4755)Gac>Aac p.D1585N RYR3_ENST00000415757.3_Missense_Mutation_p.D1585N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1585 4 X approximate repeats. 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) CAGCCACGTGGACCTCTCCCA 0.612000 11 6 0 0 0.387290 0 0 HTR1B 3351 broad.mit.edu 37 6 78172692 78172692 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:78172692G>A ENST00000369947.2 - 1 798 c.429C>T c.(427-429)atC>atT p.I143I NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 143 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) GGTCCAGGGCGATGACACAGA 0.617000 11 23 0 0 0.411799 0 0 WDR75 84128 broad.mit.edu 37 2 190334870 190334870 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:190334870C>T ENST00000314761.4 + 17 1948 c.1888C>T c.(1888-1890)Cag>Tag p.Q630* NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 630 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AGAGAAAGTCCAGTGGGGAGT 0.398000 47 105 0 0 0.870114 0 0 BAZ2A 11176 broad.mit.edu 37 12 57011238 57011238 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:57011238G>A ENST00000179765.5 - 2 276 c.77C>T c.(76-78)tCc>tTc p.S26F BAZ2A_ENST00000551812.1_Missense_Mutation_p.S28F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S26F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S28F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 28 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 CTCCCCTGAGGAAGGAGAGGG 0.577000 7 9 0 0 0.248553 0 0 MPP2 4355 broad.mit.edu 37 17 41958903 41958903 + Missense_Mutation SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:41958903A>C ENST00000269095.4 - 7 1040 c.736T>G c.(736-738)Tgc>Ggc p.C246G MPP2_ENST00000523501.1_Missense_Mutation_p.C235G|MPP2_ENST00000518766.1_Missense_Mutation_p.C291G|MPP2_ENST00000520305.1_Missense_Mutation_p.C107G|MPP2_ENST00000461854.1_Missense_Mutation_p.C270G|MPP2_ENST00000377184.3_Missense_Mutation_p.C263G|MPP2_ENST00000536246.1_Missense_Mutation_p.C235G NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 270 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GCTTCCTTGCAGGGGATGAGG 0.597000 16 44 0 0 0.539581 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150129151 150129151 + Missense_Mutation SNP C C T rs141386276 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:150129151C>T ENST00000369124.4 + 4 643 c.365C>T c.(364-366)tCg>tTg p.S122L PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S122L NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 122 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAGAAGGAATCGTGGATCAAT 0.567000 88 28 0 0 0.870114 0 0 OR6C74 254783 broad.mit.edu 37 12 55641256 55641256 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:55641256G>A ENST00000343870.4 + 1 275 c.185G>A c.(184-186)cGa>cAa p.R62Q NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R62Q(1) central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTCTTCCTCCGAAATTTCTCA 0.383000 54 70 0 0 0.870114 0 0 OR9A4 130075 broad.mit.edu 37 7 141619006 141619006 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:141619006G>A ENST00000548136.1 + 1 390 c.331G>A c.(331-333)Gag>Aag p.E111K MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GGGGACAACAGAGTTCGCATT 0.493000 58 71 0 0 0.870114 0 0 ANK3 288 broad.mit.edu 37 10 61834248 61834248 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:61834248C>T ENST00000280772.1 - 37 6582 c.6391G>A c.(6391-6393)Gaa>Aaa p.E2131K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2131 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTTCTTGTTTCAAAGCCACTG 0.423000 17 16 0 0 0.592651 0 0 HYDIN 54768 broad.mit.edu 37 16 70989293 70989293 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:70989293C>T ENST00000393567.2 - 40 6451 c.6301G>A c.(6301-6303)Gaa>Aaa p.E2101K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2101 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCCTCTCCTTCCTTCACGGAC 0.572000 6 35 0 0 0.248553 0 0 DNAH8 1769 broad.mit.edu 37 6 38997949 38997949 + Missense_Mutation SNP G G T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:38997949G>T ENST00000359357.3 + 91 13508 c.13254G>T c.(13252-13254)atG>atT p.M4418I DNAH8_ENST00000441566.1_Missense_Mutation_p.M4382I dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAAGCTCATGGAATCCACCC 0.502000 OREG0017409 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 19 4.96729e-08 4.99976e-08 0.575678 1 0 SERPINB4 6318 broad.mit.edu 37 18 61310800 61310800 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:61310800G>A ENST00000341074.5 - 2 127 c.12C>T c.(10-12)ctC>ctT p.L4L SERPINB4_ENST00000356424.6_Silent_p.L4L NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TGGCTTCACTGAGTGAATTCA 0.388000 53 91 0 0 0.870114 0 0 DNMBP 23268 broad.mit.edu 37 10 101639994 101639994 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:101639994G>A ENST00000342239.3 - 16 4285 c.4194C>T c.(4192-4194)ttC>ttT p.F1398F DNMBP_ENST00000543621.1_Silent_p.F620F|DNMBP_ENST00000324109.4_Silent_p.F1374F|DNMBP_ENST00000540316.1_Silent_p.F310F Q6XZF7 DNMBP_HUMAN dynamin binding protein 1374 Ser-rich. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TCTGGCGTGGGAACCTGGGGG 0.607000 29 15 0 0 0.779181 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837292 12837292 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:12837292C>T ENST00000357726.4 + 3 1029 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 334 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGACCCATTTCAGTCCTGAGC 0.572000 52 8 0 0 0.870114 0 0 MEP1A 4224 broad.mit.edu 37 6 46787370 46787370 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:46787370G>A ENST00000230588.4 + 7 494 c.485G>A c.(484-486)gGa>gAa p.G162E NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 162 Metalloprotease. G -> V (in Ref. 2; AAL85339). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CATGCTTTGGGATTTTACCAC 0.483000 41 106 0 0 0.870114 0 0 CD96 10225 broad.mit.edu 37 3 111319573 111319573 + Splice_Site SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:111319573G>A ENST00000352690.4 + 7 1139 c.898_splice c.e7-1 p.G300_splice CD96_ENST00000438817.2_Splice_Site_p.G300_splice|CD96_ENST00000283285.5_Splice_Site_p.G316_splice NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 316 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 TGTCTGGCAGGAATATATATT 0.363000 Opitz Trigonocephaly syndrome 16 44 0 0 0.624587 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111075 7111075 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:7111075G>A ENST00000306904.5 + 1 911 c.724G>A c.(724-726)Gat>Aat p.D242N NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 242 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CACCCACCGCGATTACGGCCA 0.657000 13 5 0 0 0.520397 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408083 107408083 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:107408083C>T ENST00000340010.5 - 20 2396 c.2212G>A c.(2212-2214)Gat>Aat p.D738N SLC26A3_ENST00000422236.2_Missense_Mutation_p.D625N NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 738 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATTTTTCCATCTTTTTCCTGA 0.333000 15 14 0 0 0.479597 0 0 TADA2B 93624 broad.mit.edu 37 4 7056214 7056214 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:7056214C>T ENST00000310074.7 + 2 885 c.696C>T c.(694-696)ttC>ttT p.F232F TADA2B_ENST00000515646.1_Silent_p.F140F|TADA2B_ENST00000512388.1_Silent_p.F157F NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 TGCCAGCCTTCCTGGGGAAGG 0.582000 41 17 0 0 0.859065 0 0 TAMM41 132001 broad.mit.edu 37 3 11885563 11885563 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:11885563G>A ENST00000444133.2 - 2 400 c.258C>T c.(256-258)tcC>tcT p.S86S TAMM41_ENST00000455809.1_Silent_p.S86S|TAMM41_ENST00000273037.5_Silent_p.S86S Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 86 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane TATTCTGGATGGACGTGATAA 0.418000 15 29 0 0 0.500413 0 0 OR9A4 130075 broad.mit.edu 37 7 141619367 141619367 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:141619367C>T ENST00000548136.1 + 1 751 c.692C>T c.(691-693)tCc>tTc p.S231F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) ATCCCGTCATCCTCTGGCCGG 0.478000 51 66 0 0 0.870114 0 0 MARCH7 64844 broad.mit.edu 37 2 160605239 160605239 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:160605239C>T ENST00000259050.3 + 5 1560 c.1438C>T c.(1438-1440)Cct>Tct p.P480S MARCH7_ENST00000409175.1_Missense_Mutation_p.P480S|MARCH7_ENST00000409591.1_Missense_Mutation_p.P442S|MARCH7_ENST00000539065.1_Missense_Mutation_p.P424S NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 480 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AGGGATTCTTCCTGGTTCCTT 0.463000 80 244 0 0 0.870114 0 0 PLCD3 113026 broad.mit.edu 37 17 43196225 43196225 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:43196225G>A ENST00000322765.5 - 5 983 c.870C>T c.(868-870)gcC>gcT p.A290A PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 290 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GCTGGGCGCGGGCCAGTGTGG 0.647000 7 10 0 0 0.335167 0 0 OR6C6 283365 broad.mit.edu 37 12 55688524 55688524 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:55688524C>T ENST00000358433.2 - 1 492 c.493G>A c.(493-495)Gat>Aat p.D165N NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GCACAAAAATCCAGCTTGAGT 0.403000 28 38 0 0 0.769981 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501321 90501321 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:90501321C>T ENST00000325643.5 + 4 1985 c.1919C>T c.(1918-1920)tCc>tTc p.S640F NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 p.S640Y(1) CAGGAGCAGTCCTGTGGCCCT 0.632000 16 11 0 0 0.479597 0 0 SCN11A 11280 broad.mit.edu 37 3 38951590 38951590 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:38951590C>T ENST00000302328.3 - 8 1266 c.1068G>A c.(1066-1068)atG>atA p.M356I SCN11A_ENST00000456224.3_Missense_Mutation_p.M356I|SCN11A_ENST00000450244.1_Missense_Mutation_p.M356I|SCN11A_ENST00000444237.2_Missense_Mutation_p.M356I NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 356 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATCTTGGGTCATCAGCCGGA 0.403000 17 29 0 0 0.608945 0 0 SEMA4D 10507 broad.mit.edu 37 9 91993689 91993689 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:91993689G>A ENST00000450295.1 - 16 3295 c.2519C>T c.(2518-2520)tCt>tTt p.S840F SEMA4D_ENST00000422704.2_Missense_Mutation_p.S840F|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S840F|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S840F|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000420987.1_Intron Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 840 anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GTCCCTGGCAGAAAGGTCGTC 0.602000 25 10 0 0 0.681144 0 0 IGLV3-12 28802 broad.mit.edu 37 22 23114853 23114853 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:23114853G>A ENST00000390313.2 + 0 134 ATCACCTGTGGGGGAAACAAC 0.527000 8 26 0 0 0.278610 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990079 39990079 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:39990079C>T ENST00000332312.3 - 4 2322 c.2130G>A c.(2128-2130)ctG>ctA p.L710L NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 710 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) GCAAGCTGTCCAGGCCCGCGG 0.647000 3 10 0 0 0.150653 0 0 BSN 8927 broad.mit.edu 37 3 49692966 49692966 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:49692966G>A ENST00000296452.4 + 5 6091 c.5977G>A c.(5977-5979)Ggc>Agc p.G1993S NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1993 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCTGAGGCTGGCCTCAACTA 0.622000 19 53 0 0 0.592651 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891723 18891723 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:18891723G>A ENST00000317658.3 + 1 679 c.521G>A c.(520-522)tGg>tAg p.W174* NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 174 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AAATCTAAATGGATTTTCCAA 0.383000 18 47 0 0 0.592651 0 0 PLGLA 285189 broad.mit.edu 37 2 107002800 107002800 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:107002800G>A ENST00000484422.1 + 0 32 GTGTCACTAAGAAGCAGCTGG 0.498000 41 128 0 0 0.859065 0 0 TJP1 7082 broad.mit.edu 37 15 30009029 30009029 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:30009029G>A ENST00000346128.6 - 23 4462 c.3988C>T c.(3988-3990)Caa>Taa p.Q1330* TJP1_ENST00000545208.2_Nonsense_Mutation_p.Q1250*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.Q1254*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.Q1330* NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1330 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TGAGGTTTTTGAGGTTCTGGG 0.343000 33 27 0 0 0.853193 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192551 132192551 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:132192551T>C ENST00000359827.3 - 2 1864 c.902A>G c.(901-903)gAg>gGg p.E301G PLXNA4_ENST00000378539.5_Missense_Mutation_p.E301G|PLXNA4_ENST00000423507.2_Missense_Mutation_p.E301G|PLXNA4_ENST00000321063.4_Missense_Mutation_p.E301G Q9HCM2 PLXA4_HUMAN plexin A4 301 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCCACTGCGCTCACAGCCAAT 0.597000 21 37 0 0 0.639603 0 0 IL10RA 3587 broad.mit.edu 37 11 117869501 117869501 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:117869501C>T ENST00000227752.3 + 7 1002 c.882C>T c.(880-882)caC>caT p.H294H IL10RA_ENST00000545409.1_Silent_p.H145H|IL10RA_ENST00000541785.1_Silent_p.H274H|IL10RA_ENST00000533700.1_3'UTR NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 294 integral to membrane|plasma membrane interleukin-10 receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) ACACCATCCACCCGCTTGATG 0.582000 25 11 0 0 0.706142 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138577 126138577 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:126138577C>T ENST00000299308.3 + 9 2566 c.2558C>T c.(2557-2559)cCc>cTc p.P853L TMEM132B_ENST00000535886.1_Missense_Mutation_p.P365L NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 853 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCCCAGTCTCCCATGGAAGGG 0.522000 11 14 0 0 0.435327 0 0 OAS1 4938 broad.mit.edu 37 12 113357260 113357260 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:113357260G>A ENST00000202917.5 + 6 1368 c.1105G>A c.(1105-1107)Gga>Aga p.G369R OAS1_ENST00000445409.2_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron NM_016816.2 NP_058132.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 369 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 TGGTTACATTGGAACACATGA 0.512000 24 60 0 0 0.740014 0 0 KERA 11081 broad.mit.edu 37 12 91449844 91449844 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:91449844C>T ENST00000266719.3 - 2 462 c.215G>A c.(214-216)aGa>aAa p.R72K NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 72 response to stimulus|visual perception proteinaceous extracellular matrix p.R72I(1) breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 ATACCAAATTCTTGAAGGAAT 0.383000 11 29 0 0 0.411799 0 0 CADM2 253559 broad.mit.edu 37 3 85984971 85984971 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:85984971C>T ENST00000383699.3 + 7 1382 c.755C>T c.(754-756)cCt>cTt p.P252L CADM2_ENST00000407528.2_Missense_Mutation_p.P243L|CADM2_ENST00000405615.2_Missense_Mutation_p.P245L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 243 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAAGGACAGCCTTTAATTTTG 0.303000 40 67 0 0 0.870114 0 0 HDHD2 84064 broad.mit.edu 37 18 44635148 44635148 + Nonsense_Mutation SNP G G A rs141476363 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:44635148G>A ENST00000300605.6 - 7 837 c.685C>T c.(685-687)Cga>Tga p.R229* HDHD2_ENST00000587841.1_5'UTR NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 229 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 TCTGATGCTCGATATTTCCCT 0.443000 11 15 0 0 0.411799 0 0 ZNF728 388523 broad.mit.edu 37 19 23159858 23159858 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:23159858G>A ENST00000594710.1 - 4 426 c.281C>T c.(280-282)tCt>tTt p.S94F NM_001267716.1 NP_001254645.1 zinc finger protein 728 TTTTTGGAAAGAATCTTCTCT 0.323000 4 2 0 0 0.217242 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481655 95481655 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:95481655C>T ENST00000432432.2 - 0 1705 NR_040113.1 TGTCATTTTTCATTGTACATA 0.299000 29 43 0 0 0.740014 0 0 TTN 7273 broad.mit.edu 37 2 179441491 179441491 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:179441491C>T ENST00000589042.1 - 325 69704 c.69480G>A c.(69478-69480)tgG>tgA p.W23160* TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W14287*|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W20592*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W21519*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W14095*|TTN_ENST00000359218.5_Nonsense_Mutation_p.W14220*|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21519 Ig-like 118. 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) CTGGCCTTTTCCAGCTGACAG 0.448000 9 41 0 0 0.335167 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 25 8 0 0 0.706142 0 0 GPR139 124274 broad.mit.edu 37 16 20043682 20043682 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:20043682C>T ENST00000570682.1 - 2 737 c.437G>A c.(436-438)cGg>cAg p.R146Q NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 146 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 AATGACTTTCCGGGTGCGGGC 0.512000 94 44 0 0 0.870114 0 0 KCNB2 9312 broad.mit.edu 37 8 73480322 73480322 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:73480322C>T ENST00000523207.1 + 2 941 c.353C>T c.(352-354)tCg>tTg p.S118L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 118 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.S118L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGTGCACTTTCGTTTGGCCAA 0.423000 24 29 0 0 0.693898 0 0 SUGP2 10147 broad.mit.edu 37 19 19120938 19120938 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:19120938G>A ENST00000601879.1 - 5 2361 c.2064C>T c.(2062-2064)ctC>ctT p.L688L SUGP2_ENST00000456085.2_Silent_p.L457L|SUGP2_ENST00000337018.6_Silent_p.L688L|SUGP2_ENST00000452918.2_Silent_p.L688L|SUGP2_ENST00000600377.1_Silent_p.L702L Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 688 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TCCAGCCCCGGAGCCCTTGAG 0.667000 36 27 0 0 0.847076 0 0 CNTN6 27255 broad.mit.edu 37 3 1424750 1424750 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:1424750G>A ENST00000446702.2 + 18 2918 c.2291G>A c.(2290-2292)aGa>aAa p.R764K CNTN6_ENST00000350110.2_Missense_Mutation_p.R764K|CNTN6_ENST00000539053.1_Missense_Mutation_p.R692K Q9UQ52 CNTN6_HUMAN contactin 6 764 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane p.R764T(1) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTTGTCTACAGAAATGAAAGC 0.458000 39 48 0 0 0.870114 0 0 MMP12 4321 broad.mit.edu 37 11 102738082 102738082 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:102738082G>A ENST00000532855.1 - 0 925 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGCTGGTTCTGAATTGTCAGG 0.398000 10 2 0 0 0.361761 0 0 SNHG23 100507242 broad.mit.edu 37 14 101423536 101423536 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:101423536C>T ENST00000556637.1 + 0 464 SNORD114-6_ENST00000364393.1_RNA GCGTATAAATCATATTTGGTG 0.313000 9 23 0 0 0.361761 0 0 NLRP4 147945 broad.mit.edu 37 19 56373457 56373457 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:56373457C>T ENST00000301295.6 + 5 2540 c.2118C>T c.(2116-2118)ctC>ctT p.L706L NLRP4_ENST00000346986.5_Silent_p.L706L|NLRP4_ENST00000587891.1_Silent_p.L631L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 706 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCACGAAACTCTCTCGTGATG 0.468000 30 18 0 0 0.769981 0 0 GALNT13 114805 broad.mit.edu 37 2 155099272 155099272 + Silent SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:155099272T>A ENST00000392825.3 + 6 1107 c.540T>A c.(538-540)atT>atA p.I180I GALNT13_ENST00000409237.1_Silent_p.I180I NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 180 Catalytic subdomain A. 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 TAAAAATTATTAGGATGGAAG 0.358000 17 13 0 0 0.608945 0 0 RXFP2 122042 broad.mit.edu 37 13 32376374 32376374 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:32376374G>A ENST00000298386.2 + 18 2168 c.2097G>A c.(2095-2097)aaG>aaA p.K699K RXFP2_ENST00000380314.1_Silent_p.K675K NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 699 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ACTTTTTTAAGGACAAGTTGA 0.353000 19 14 0 0 0.557998 0 0 TENM3 55714 broad.mit.edu 37 4 183594241 183594241 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:183594241C>T ENST00000511685.1 + 7 1318 c.1195C>T c.(1195-1197)Cct>Tct p.P399S TENM3_ENST00000406950.2_Missense_Mutation_p.P399S teneurin transmembrane protein 3 TCAAGAGATTCCTCCCGGGAT 0.403000 6 1 0 0 0.217242 0 0 GRHL2 79977 broad.mit.edu 37 8 102505011 102505011 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:102505011C>T ENST00000251808.3 + 1 352 c.14C>T c.(13-15)tCg>tTg p.S5L GRHL2_ENST00000395927.1_5'UTR NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 5 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCACAAGAGTCGGACAAGTAA 0.473000 22 54 0 0 0.693898 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764525 109764525 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:109764525G>A ENST00000602699.1 + 0 986 NR_002718.2 CCCAGGAGGAGCCTGCAATTC 0.572000 3 12 0 0 0.184627 0 0 TOP3A 7156 broad.mit.edu 37 17 18183895 18183895 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:18183895C>T ENST00000321105.5 - 17 2313 c.2099G>A c.(2098-2100)aGg>aAg p.R700K TOP3A_ENST00000542570.1_Missense_Mutation_p.R605K|TOP3A_ENST00000540524.1_Missense_Mutation_p.R230K NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 700 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 ACTGCTGTCCCTGCTGGCCTC 0.582000 6 30 0 0 0.278610 0 0 KIF17 57576 broad.mit.edu 37 1 20992747 20992747 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:20992747C>T ENST00000247986.2 - 14 3181 c.2871G>A c.(2869-2871)cgG>cgA p.R957R KIF17_ENST00000375044.1_Silent_p.R857R|KIF17_ENST00000400463.3_Silent_p.R956R|KIF17_ENST00000490034.1_5'UTR Q9P2E2 KIF17_HUMAN kinesin family member 17 957 R -> W (in Ref. 1; AAR33039 and 4; BAA92643). microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TCTGGCTGGCCCGCTTAGATC 0.597000 65 22 0 0 0.870114 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934839 9934839 + Missense_Mutation SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:9934839T>A ENST00000396573.2 - 7 1760 c.1451A>T c.(1450-1452)aAg>aTg p.K484M GRIN2A_ENST00000562109.1_Missense_Mutation_p.K484M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K327M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K484M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K484M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K484M NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 484 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTGCCATGCTTCCCATTGGT 0.433000 64 35 0 0 0.870114 0 0 FARSB 10056 broad.mit.edu 37 2 223507586 223507586 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:223507586G>A ENST00000281828.6 - 3 516 c.253C>T c.(253-255)Cag>Tag p.Q85* FARSB_ENST00000536361.1_5'UTR NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 85 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTGAAGACCTGAAGTCCTCGA 0.393000 11 36 0 0 0.479597 0 0 CWC27 10283 broad.mit.edu 37 5 64079668 64079668 + Silent SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:64079668A>G ENST00000508024.1 + 4 459 c.258A>G c.(256-258)gaA>gaG p.E86E CWC27_ENST00000381070.3_Silent_p.E86E Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 86 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 TTCAGGATGAATTTCATTCAC 0.413000 94 36 0 0 0.870114 0 0 YIF1B 90522 broad.mit.edu 37 19 38798128 38798128 + Silent SNP G G A rs146100643 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:38798128G>A ENST00000392124.3 - 6 950 c.636C>T c.(634-636)ttC>ttT p.F212F YIF1B_ENST00000592694.1_Silent_p.F212F|YIF1B_ENST00000592246.1_Silent_p.F177F|YIF1B_ENST00000591784.1_Silent_p.F212F|YIF1B_ENST00000329420.8_Silent_p.F228F|YIF1B_ENST00000339413.6_Silent_p.F243F|YIF1B_ENST00000337679.8_Silent_p.F240F|YIF1B_ENST00000591755.1_Silent_p.F240F NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) 243 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAATCTTCCCGAAGAGCAGGC 0.647000 3 33 0 0 0.150653 0 0 SPINT1 6692 broad.mit.edu 37 15 41146659 41146659 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:41146659C>T ENST00000344051.4 + 7 1287 c.1053C>T c.(1051-1053)ttC>ttT p.F351F SPINT1_ENST00000431806.1_Silent_p.F335F|SPINT1_ENST00000562057.1_Silent_p.F335F O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 351 LDL-receptor class A. extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TCGACAGTTTCCTGGAGTGTG 0.622000 24 24 0 0 0.740014 0 0 USH1C 10083 broad.mit.edu 37 11 17547943 17547943 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:17547943C>T ENST00000005226.7 - 8 624 c.625G>A c.(625-627)Gag>Aag p.E209K USH1C_ENST00000527020.1_Missense_Mutation_p.E209K|USH1C_ENST00000527720.1_Missense_Mutation_p.E178K|USH1C_ENST00000318024.4_Missense_Mutation_p.E209K NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 209 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 ACCTTCTTCTCCTTGTTTTCC 0.612000 11 7 0 0 0.435327 0 0 ZFAT 57623 broad.mit.edu 37 8 135614561 135614561 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:135614561G>A ENST00000520727.1 - 7 1664 c.1365C>T c.(1363-1365)ttC>ttT p.F455F ZFAT_ENST00000377838.3_Silent_p.F467F|ZFAT_ENST00000520356.1_Silent_p.F455F|ZFAT_ENST00000520214.1_Silent_p.F455F|ZFAT_ENST00000429442.2_Silent_p.F455F|ZFAT_ENST00000523399.1_Silent_p.F405F NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGGAGCTGACGAACTTCTTGC 0.607000 10 27 0 0 0.435327 0 0 SH3TC1 54436 broad.mit.edu 37 4 8221094 8221094 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:8221094C>T ENST00000539824.1 + 9 1095 c.721C>T c.(721-723)Cag>Tag p.Q241* SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.Q317* Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 317 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GGCAGACTTCCAGGGCTCGGG 0.677000 20 33 0 0 0.693898 0 0 SMARCA2 6595 broad.mit.edu 37 9 2086993 2086993 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:2086993C>T ENST00000382203.1 + 18 2900 c.2691C>T c.(2689-2691)ttC>ttT p.F897F SMARCA2_ENST00000357248.2_Silent_p.F897F|SMARCA2_ENST00000382194.1_Silent_p.F897F|SMARCA2_ENST00000349721.2_Silent_p.F897F P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 897 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TCCTCAACTTCCTCCTCCCAA 0.498000 29 20 0 0 0.729181 0 0 CUL5 8065 broad.mit.edu 37 11 107920793 107920793 + Splice_Site SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:107920793G>A ENST00000393094.2 + 4 1027 c.411_splice c.e4+1 p.K137_splice NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 137 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TTGTTCGAAAGGTAAGACTAT 0.313000 25 8 0 0 0.779181 0 0 TECPR1 25851 broad.mit.edu 37 7 97874278 97874278 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:97874278C>T ENST00000447648.2 - 4 626 c.327G>A c.(325-327)gtG>gtA p.V109V TECPR1_ENST00000379795.3_Silent_p.V109V|TECPR1_ENST00000542604.1_Silent_p.V30V Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 109 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGGGCAGTGCCACCCTGTCCA 0.622000 20 29 0 0 0.654019 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 25 0 0 0.115264 0 0 FIBCD1 84929 broad.mit.edu 37 9 133787192 133787192 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:133787192C>T ENST00000372338.4 - 5 1175 c.933G>A c.(931-933)ggG>ggA p.G311G FIBCD1_ENST00000253018.4_Silent_p.G153G|FIBCD1_ENST00000448616.1_Silent_p.G311G|FIBCD1_ENST00000372337.2_Silent_p.G153G NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 311 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GCCAGTGCTCCCCGGTGAGCC 0.662000 6 2 0 0 0.278610 0 0 DMC1 11144 broad.mit.edu 37 22 38934315 38934315 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:38934315G>A ENST00000216024.2 - 11 1036 c.760C>T c.(760-762)Caa>Taa p.Q254* DMC1_ENST00000428462.2_Nonsense_Mutation_p.Q199* NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 254 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) GAGATTTTTTGGAGTCGTGAC 0.413000 Homologous recombination 20 36 0 0 0.693898 0 0 DSCAM 1826 broad.mit.edu 37 21 41725649 41725649 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:41725649G>A ENST00000400454.1 - 5 1154 c.677C>T c.(676-678)tCc>tTc p.S226F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 226 Ig-like C2-type 3. 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) ATCCAGTATGGATGGGGCTGA 0.512000 5 10 0 0 0.217242 0 0 FSD1 79187 broad.mit.edu 37 19 4311969 4311969 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:4311969C>T ENST00000221856.6 + 7 768 c.621C>T c.(619-621)ttC>ttT p.F207F FSD1_ENST00000597590.1_Silent_p.F207F|FSD1_ENST00000598010.1_3'UTR NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 207 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGACCAACTTCGAGGGCCCGC 0.622000 18 11 0 0 0.557998 0 0 FOXN1 8456 broad.mit.edu 37 17 26857782 26857782 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:26857782G>A ENST00000226247.2 + 5 875 c.846G>A c.(844-846)atG>atA p.M282I FOXN1_ENST00000579795.1_Missense_Mutation_p.M282I NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 282 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) TCATCTTCATGGCCCTTAAGA 0.537000 11 29 0 0 0.479597 0 0 PAOX 196743 broad.mit.edu 37 10 135195147 135195147 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:135195147C>T ENST00000278060.5 + 3 935 c.852C>T c.(850-852)atC>atT p.I284I PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.I284I|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.I284I NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 422 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ACCATGTCATCGTCACCGTGC 0.617000 31 15 0 0 0.804634 0 0 SCN3A 6328 broad.mit.edu 37 2 165984456 165984456 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:165984456G>A ENST00000360093.3 - 18 3569 c.3078C>T c.(3076-3078)ttC>ttT p.F1026F SCN3A_ENST00000409101.3_Silent_p.F977F|SCN3A_ENST00000283254.7_Silent_p.F1026F NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1026 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGGCTTTTTGGAAACACTCCC 0.348000 24 25 0 0 0.693898 0 0 RRAD 6236 broad.mit.edu 37 16 66956131 66956131 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:66956131C>T ENST00000299759.6 - 5 1025 c.775G>A c.(775-777)Gaa>Aaa p.E259K RRAD_ENST00000420652.1_Missense_Mutation_p.E259K P55042 RAD_HUMAN Ras-related associated with diabetes 259 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) GCGTTGGCTTCTTTGCTGTCC 0.587000 31 8 0 0 0.796494 0 0 GLG1 2734 broad.mit.edu 37 16 74530429 74530429 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:74530429G>A ENST00000422840.2 - 5 887 c.888C>T c.(886-888)ctC>ctT p.L296L GLG1_ENST00000205061.5_Silent_p.L296L|GLG1_ENST00000447066.2_Silent_p.L285L NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 296 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CAGCCACCCGGAGAATGGCTT 0.463000 36 27 0 0 0.788014 0 0 SCAND3 114821 broad.mit.edu 37 6 28540518 28540518 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:28540518G>A ENST00000452236.2 - 4 3765 c.3148C>T c.(3148-3150)Cat>Tat p.H1050Y NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1050 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 agttgcttatgatcagcttcc 0.303000 37 61 0 0 0.870114 0 0 NES 10763 broad.mit.edu 37 1 156639851 156639851 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:156639851G>A ENST00000368223.3 - 4 4261 c.4129C>T c.(4129-4131)Cct>Tct p.P1377S NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1377 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAAGAAAAGGTGCCTCAGTC 0.622000 22 6 0 0 0.667858 0 0 RYR2 6262 broad.mit.edu 37 1 237875104 237875104 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:237875104C>T ENST00000366574.2 + 71 10607 c.10290C>T c.(10288-10290)ttC>ttT p.F3430F RYR2_ENST00000360064.6_Silent_p.F3428F|RYR2_ENST00000542537.1_Silent_p.F3414F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3430 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATATGTCTTTCCTTATTACTG 0.308000 10 3 0 0 0.435327 0 0 DSG4 147409 broad.mit.edu 37 18 28968463 28968463 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:28968463G>A ENST00000359747.4 + 4 379 c.350G>A c.(349-351)aGa>aAa p.R117K RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R117K NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 117 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTGGTAGACAGAGAAATAACT 0.358000 11 27 0 0 0.479597 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829832 26829832 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:26829832G>A ENST00000215906.5 + 2 689 c.251G>A c.(250-252)cGg>cAg p.R84Q NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 84 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GAGCAGCCCCGGCCCTACGTC 0.642000 36 61 0 0 0.870114 0 0 CLCN4 1183 broad.mit.edu 37 X 10181783 10181783 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:10181783G>A ENST00000380833.4 + 11 2030 c.1639G>A c.(1639-1641)Gag>Aag p.E547K CLCN4_ENST00000380829.1_Missense_Mutation_p.E516K|CLCN4_ENST00000421085.2_Missense_Mutation_p.E453K NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 547 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CGGGGGTCTGGAGTACATCGT 0.527000 4 64 0 0 0.184627 0 0 ITGB8 3696 broad.mit.edu 37 7 20406796 20406796 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:20406796C>T ENST00000222573.3 + 3 1059 c.375C>T c.(373-375)atC>atT p.I125I ITGB8_ENST00000537992.1_5'UTR NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 125 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 AAGTGTCTATCCAGCTGCGTC 0.343000 46 24 0 0 0.870114 0 0 SPACA3 124912 broad.mit.edu 37 17 31324751 31324751 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:31324751C>T ENST00000580599.1 + 6 805 c.396C>T c.(394-396)tgC>tgT p.C132C SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Silent_p.C201C|SPACA3_ENST00000394638.1_Silent_p.C98C Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 201 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) GGCATCACTGCCAGGGAAAAG 0.537000 15 70 0 0 0.575678 0 0 PCDH10 57575 broad.mit.edu 37 4 134072069 134072069 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:134072069C>T ENST00000264360.4 + 1 1600 c.774C>T c.(772-774)tcC>tcT p.S258S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 258 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ACACTGTGTCCCTACCAGAGA 0.632000 42 25 0 0 0.870114 0 0 GGA1 26088 broad.mit.edu 37 22 38021006 38021006 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:38021006C>T ENST00000406772.1 + 11 1296 c.644C>T c.(643-645)aCc>aTc p.T215I GGA1_ENST00000337437.4_Missense_Mutation_p.T255I|GGA1_ENST00000343632.4_Missense_Mutation_p.T288I|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000381756.5_Missense_Mutation_p.T305I NM_001172688.1 NP_001166159.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 288 GAT.|Interaction with ARF3. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GACAACCTCACCCAGGTGATC 0.642000 3 8 0 0 0.184627 0 0 OR6C3 254786 broad.mit.edu 37 12 55725861 55725861 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:55725861C>T ENST00000379667.1 + 1 377 c.377C>T c.(376-378)cCc>cTc p.P126L NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 ATCTGCAAGCCCCTTCATTAC 0.453000 24 73 0 0 0.717897 0 0 FMNL2 114793 broad.mit.edu 37 2 153435417 153435417 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:153435417G>A ENST00000288670.9 + 8 1088 c.721G>A c.(721-723)Gtc>Atc p.V241I NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 241 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 TTTCAACATGGTCATGTCTCA 0.368000 11 13 0 0 0.435327 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517908 84517908 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:84517908C>T ENST00000331369.5 + 0 102 CTCGCAGATCCCCTGCGTGTG 0.602000 3 8 0 0 0.150653 0 0 ACACA 31 broad.mit.edu 37 17 35536293 35536293 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:35536293G>A ENST00000353139.5 - 41 5468 c.4987C>T c.(4987-4989)Cct>Tct p.P1663S ACACA_ENST00000360679.3_Missense_Mutation_p.P1568S|ACACA_ENST00000335166.5_Missense_Mutation_p.P1548S|ACACA_ENST00000394406.2_Missense_Mutation_p.P1626S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1626 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GAAGGCAGAGGGGGAGATGGA 0.453000 29 33 0 0 0.779181 0 0 DRD1 1812 broad.mit.edu 37 5 174869909 174869909 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:174869909G>A ENST00000393752.2 - 2 1186 c.194C>T c.(193-195)tCc>tTc p.S65F NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 65 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CACAGCCAAGGAGATGACAAA 0.572000 24 6 0 0 0.693898 0 0 RGAG1 57529 broad.mit.edu 37 X 109696473 109696473 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:109696473G>A ENST00000465301.2 + 3 2874 c.2628G>A c.(2626-2628)atG>atA p.M876I RGAG1_ENST00000540313.1_Missense_Mutation_p.M876I NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 876 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 CATCACAAATGATGCCCACAG 0.547000 11 89 0 0 0.411799 0 0 AGK 55750 broad.mit.edu 37 7 141349069 141349069 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:141349069G>A ENST00000355413.4 + 14 1242 c.982G>A c.(982-984)Gaa>Aaa p.E328K AGK_ENST00000473247.1_Missense_Mutation_p.E300K|AGK_ENST00000535825.1_3'UTR NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 328 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) TTAGAGCAAAGAAGATTTTCT 0.393000 14 31 0 0 0.539581 0 0 TMEM225 338661 broad.mit.edu 37 11 123753896 123753896 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:123753896C>T ENST00000375026.2 - 4 843 c.627G>A c.(625-627)gtG>gtA p.V209V NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 209 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TTAGGGAATTCACAGTGTGTG 0.398000 30 22 0 0 0.769981 0 0 ANKS1B 56899 broad.mit.edu 37 12 99793546 99793546 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:99793546C>T ENST00000547776.2 - 12 1618 c.1619G>A c.(1618-1620)cGa>cAa p.R540Q ANKS1B_ENST00000547010.1_Missense_Mutation_p.R120Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R540Q NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 540 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GTGATTCATTCGGTGAAAATC 0.418000 12 43 0 0 0.539581 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94898759 94898759 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:94898759G>A ENST00000289495.5 + 12 3160 c.2944G>A c.(2944-2946)Gat>Aat p.D982N PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D1022N|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D1000N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D1000N|PPP1R9A_ENST00000433881.1_Intron NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 970 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GTCTGATCATGATGTGGAAGA 0.408000 HNSCC(28;0.073) 43 85 0 0 0.870114 0 0 BAGE2 85319 broad.mit.edu 37 21 11039340 11039340 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:11039340C>T ENST00000470054.1 - 0 863 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAATTTGATCTTCGCCACAA 0.378000 21 164 0 0 0.639603 0 0 MPHOSPH9 10198 broad.mit.edu 37 12 123646767 123646767 + Splice_Site SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:123646767T>A ENST00000606320.1 - 21 3236 c.e21-2 MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site Q99550 MPP9_HUMAN M-phase phosphoprotein 9 M phase of mitotic cell cycle centriole|Golgi membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1) 33 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) ATATCAAATCTATTGAATGAA 0.353000 16 33 0 0 0.557998 0 0 SLC10A2 6555 broad.mit.edu 37 13 103710711 103710711 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:103710711G>A ENST00000245312.3 - 2 995 c.399C>T c.(397-399)tcC>tcT p.S133S NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 133 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CAAGCAGTGTGGAGCATGTGG 0.443000 19 9 0 0 0.624587 0 0 PTPRT 11122 broad.mit.edu 37 20 41385114 41385114 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:41385114G>A ENST00000373198.3 - 6 1082 c.847C>T c.(847-849)Ctg>Ttg p.L283L PTPRT_ENST00000373193.3_Silent_p.L283L|PTPRT_ENST00000356100.2_Silent_p.L283L|PTPRT_ENST00000373201.1_Silent_p.L283L|PTPRT_ENST00000373187.1_Silent_p.L283L|PTPRT_ENST00000373184.1_Silent_p.L283L|PTPRT_ENST00000373190.1_Silent_p.L283L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 283 Ig-like C2-type. 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) TTCACGATCAGCTCCGCGTAG 0.577000 24 24 0 0 0.788014 0 0 CAP2 10486 broad.mit.edu 37 6 17463250 17463250 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:17463250C>T ENST00000229922.2 + 4 778 c.246C>T c.(244-246)ttC>ttT p.F82F CAP2_ENST00000489374.1_Silent_p.F82F|CAP2_ENST00000465994.1_Silent_p.F82F|CAP2_ENST00000378990.2_Intron|CAP2_ENST00000493172.1_Intron NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 82 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) ACAGTGCTTTCCAGGCCCAGC 0.502000 10 67 0 0 0.457914 0 0 MYH8 4626 broad.mit.edu 37 17 10317277 10317277 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:10317277C>T ENST00000403437.2 - 12 1183 c.1089G>A c.(1087-1089)ggG>ggA p.G363G CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 363 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATTTCATGTTCCCATAATGCA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 56 49 0 0 0.870114 0 0 SEMA4B 10509 broad.mit.edu 37 15 90768390 90768390 + Missense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:90768390A>T ENST00000411539.2 + 10 1645 c.1385A>T c.(1384-1386)gAt>gTt p.D462V SEMA4B_ENST00000332496.6_Missense_Mutation_p.D462V|SEMA4B_ENST00000379122.3_Missense_Mutation_p.D457V NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) CACACCTACGATGTCCTCTTC 0.672000 7 2 0 0 0.278610 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47533331 47533331 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:47533331C>T ENST00000334194.3 + 1 172 c.169C>T c.(169-171)Cac>Tac p.H57Y NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 57 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GTTCTATGGCCACAAGGAGGT 0.473000 46 17 0 0 0.870114 0 0 DLC1 10395 broad.mit.edu 37 8 12957987 12957987 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:12957987G>A ENST00000276297.4 - 9 2268 c.1859C>T c.(1858-1860)tCc>tTc p.S620F DLC1_ENST00000358919.2_Missense_Mutation_p.S183F|DLC1_ENST00000520226.1_Missense_Mutation_p.S109F|DLC1_ENST00000512044.2_Missense_Mutation_p.S217F NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 620 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGATGACGGAGTTAGTCCG 0.642000 60 43 0 0 0.870114 0 0 ANK3 288 broad.mit.edu 37 10 61830238 61830238 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:61830238G>A ENST00000280772.1 - 37 10592 c.10401C>T c.(10399-10401)atC>atT p.I3467I ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3467 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CCTCCTCCTCGATAACTTCAA 0.458000 31 17 0 0 0.827153 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435524 18435524 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:18435524G>A ENST00000433979.1 + 2 625 c.509G>A c.(508-510)gGa>gAa p.G170E PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G170E|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.G170E|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G170E NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 170 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TACCATATAGGATTTGAAAGT 0.338000 15 43 0 0 0.520397 0 0 OR7G1 125962 broad.mit.edu 37 19 9225778 9225778 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9225778A>G ENST00000293614.1 - 1 661 c.662T>C c.(661-663)aTa>aCa p.I221T OR7G1_ENST00000541538.1_Missense_Mutation_p.I221T Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AGAGGTGACTATTTGAGAATA 0.408000 29 22 0 0 0.788014 0 0 CNTN6 27255 broad.mit.edu 37 3 1443200 1443200 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:1443200G>A ENST00000446702.2 + 21 3415 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K CNTN6_ENST00000350110.2_Missense_Mutation_p.E930K|CNTN6_ENST00000539053.1_Missense_Mutation_p.E858K Q9UQ52 CNTN6_HUMAN contactin 6 930 Fibronectin type-III 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAAAACCATGGAAAATGAGTC 0.368000 12 15 0 0 0.435327 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059343 152059343 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:152059343G>A ENST00000368806.1 - 3 879 c.815C>T c.(814-816)cCa>cTa p.P272L NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 272 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATCTTCACATGGTCTTTGTGT 0.433000 77 21 0 0 0.870114 0 0 FBXL13 222235 broad.mit.edu 37 7 102524023 102524023 + Missense_Mutation SNP C C T rs137980271 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:102524023C>T ENST00000393772.2 - 13 1643 c.1217G>A c.(1216-1218)cGa>cAa p.R406Q FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000313221.4_Missense_Mutation_p.R406Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.R406Q|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.R406Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.R406Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.R406Q Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 406 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 ACCTTCAAATCGGATCTTTCT 0.353000 24 25 0 0 0.717897 0 0 BRS3 680 broad.mit.edu 37 X 135570657 135570657 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:135570657C>T ENST00000370648.3 + 1 612 c.384C>T c.(382-384)ctC>ctT p.L128L NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 128 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) TCATCCGGCTCACTTCTGTTG 0.443000 5 73 0 0 0.184627 0 0 YEATS2 55689 broad.mit.edu 37 3 183495355 183495355 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:183495355C>T ENST00000305135.5 + 19 2798 c.2603C>T c.(2602-2604)tCa>tTa p.S868L NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 868 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGCCAGCCATCACCCCAGACT 0.423000 29 31 0 0 0.819951 0 0 ANAPC10 10393 broad.mit.edu 37 4 145985797 145985797 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:145985797G>A ENST00000507656.1 - 4 347 c.254C>T c.(253-255)tCt>tTt p.S85F ANAPC10_ENST00000512680.1_Missense_Mutation_p.S85F|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000309439.5_Missense_Mutation_p.S85F|ANAPC10_ENST00000451299.2_Missense_Mutation_p.S85F NM_001256706.1 NP_001243635.1 Q9UM13 APC10_HUMAN anaphase promoting complex subunit 10 85 DOC. 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 ubiquitin-protein ligase activity endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(180;0.151) GCTTTCATCAGATTTGTAGTC 0.294000 23 4 0 0 0.624587 0 0 BRINP2 57795 broad.mit.edu 37 1 177247853 177247853 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:177247853C>T ENST00000361539.4 + 7 1479 c.1167C>T c.(1165-1167)atC>atT p.I389I FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 389 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCCATCGGATCCTACGCCGGC 0.612000 75 14 0 0 0.870114 0 0 C8A 731 broad.mit.edu 37 1 57378172 57378172 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:57378172G>A ENST00000361249.3 + 10 1573 c.1477G>A c.(1477-1479)Gaa>Aaa p.E493K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 493 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GTATCTGATGGAATTCAATGC 0.632000 37 18 0 0 0.847076 0 0 RNF165 494470 broad.mit.edu 37 18 44030274 44030274 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:44030274C>T ENST00000269439.7 + 5 682 c.631C>T c.(631-633)Cga>Tga p.R211* RNF165_ENST00000543885.1_Nonsense_Mutation_p.R19* NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 211 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) CCATGAAATCCGAAACTACCC 0.517000 16 30 0 0 0.592651 0 0 MLIP 90523 broad.mit.edu 37 6 53989510 53989510 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:53989510G>A ENST00000514921.1 + 3 572 c.459G>A c.(457-459)ggG>ggA p.G153G MLIP_ENST00000370877.2_Silent_p.G101G|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000274897.5_Silent_p.G153G|MLIP_ENST00000370876.2_Silent_p.G91G|MLIP_ENST00000502396.1_Silent_p.G164G|MLIP_ENST00000358276.5_Silent_p.G147G|MLIP_ENST00000509997.1_Silent_p.G101G Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 153 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CCCCAGGGGGGATTGGCACCG 0.532000 14 40 0 0 0.575678 0 0 HMGXB4 10042 broad.mit.edu 37 22 35660861 35660861 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:35660861C>T ENST00000216106.5 + 5 608 c.480C>T c.(478-480)ccC>ccT p.P160P HMGXB4_ENST00000444518.2_Silent_p.P51P NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 160 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGAACTACCCCTAGAGGATG 0.473000 20 26 0 0 0.592651 0 0 ENTPD8 377841 broad.mit.edu 37 9 140332468 140332468 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:140332468C>T ENST00000371506.2 - 3 378 c.195G>A c.(193-195)aaG>aaA p.K65K ENTPD8_ENST00000472938.1_Silent_p.K65K|ENTPD8_ENST00000344119.2_Silent_p.K65K NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 65 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) TGCCATTCTCCTTGTTCGCCA 0.622000 11 28 0 0 0.435327 0 0 RBM12B 389677 broad.mit.edu 37 8 94747873 94747873 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:94747873G>A ENST00000399300.2 - 3 979 c.766C>T c.(766-768)Cca>Tca p.P256S RBM12B_ENST00000517700.1_Missense_Mutation_p.P256S|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 256 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ATTCCTCTTGGTGGAGAATGT 0.393000 30 68 0 0 0.740014 0 0 SRCAP 10847 broad.mit.edu 37 16 30748990 30748990 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:30748990C>T ENST00000262518.4 + 34 8014 c.7629C>T c.(7627-7629)ctC>ctT p.L2543L SRCAP_ENST00000344771.4_Silent_p.L2385L|SRCAP_ENST00000395059.2_Silent_p.L2481L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2543 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) TCACTAATCTCCCCTTGGGCT 0.572000 8 81 0 0 0.335167 0 0 OR3A1 4994 broad.mit.edu 37 17 3195151 3195151 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:3195151G>A ENST00000323404.1 - 1 725 c.726C>T c.(724-726)tcC>tcT p.S242S RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 AGCCACATGTGGAGAAGGCTT 0.498000 19 29 0 0 0.592651 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835291 27835291 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:27835291G>A ENST00000331442.3 - 1 68 c.17C>T c.(16-18)cCt>cTt p.P6L NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 6 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 TGTCTCGGCAGGAGCGGTTTC 0.587000 15 12 0 0 0.624587 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573554 140573554 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140573554G>A ENST00000239446.4 + 1 1613 c.1429G>A c.(1429-1431)Gac>Aac p.D477N NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 477 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCGCCACAGACAGAGACTC 0.657000 28 84 0 0 0.779181 0 0 INO80D 54891 broad.mit.edu 37 2 206911278 206911278 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:206911278G>A ENST00000403263.1 - 5 1427 c.1023C>T c.(1021-1023)ccC>ccT p.P341P NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 341 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 CAACCTGGTAGGGCGAGGCCT 0.458000 36 35 0 0 0.870114 0 0 GPR139 124274 broad.mit.edu 37 16 20043681 20043681 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:20043681C>T ENST00000570682.1 - 2 738 c.438G>A c.(436-438)cgG>cgA p.R146R NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 146 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CAATGACTTTCCGGGTGCGGG 0.512000 94 43 0 0 0.870114 0 0 OR51D1 390038 broad.mit.edu 37 11 4661869 4661869 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:4661869C>T ENST00000357605.2 + 1 925 c.849C>T c.(847-849)ctC>ctT p.L283L NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCACCTCCCTCCTCCATGTGG 0.532000 54 35 0 0 0.870114 0 0 PLCB2 5330 broad.mit.edu 37 15 40580978 40580978 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:40580978G>A ENST00000260402.3 - 32 3745 c.3496C>T c.(3496-3498)Cca>Tca p.P1166S PLCB2_ENST00000456256.2_Missense_Mutation_p.P1151S|PLCB2_ENST00000557821.1_Missense_Mutation_p.P1162S NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1166 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CACAGCTCTGGGGGGCACTCG 0.627000 15 35 0 0 0.520397 0 0 TOX2 84969 broad.mit.edu 37 20 42682992 42682992 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:42682992G>A ENST00000358131.5 + 5 940 c.732G>A c.(730-732)ccG>ccA p.P244P TOX2_ENST00000372999.1_Silent_p.P193P|TOX2_ENST00000341197.3_Silent_p.P235P|TOX2_ENST00000423191.1_Silent_p.P193P|TOX2_ENST00000435864.2_Silent_p.P113P NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CCAAGAACCCGAAGAAGAAGA 0.542000 7 11 0 0 0.335167 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174830 150174830 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:150174830G>A ENST00000307271.3 + 5 2534 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 654 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GTCCCAAGCCGAAAAACTCCT 0.463000 29 33 0 0 0.769981 0 0 COPZ1 22818 broad.mit.edu 37 12 54734318 54734318 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:54734318C>T ENST00000549043.1 + 2 125 c.30C>T c.(28-30)ttC>ttT p.F10F COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000262061.2_Intron|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000553231.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000548753.1_Intron|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000416254.2_Intron P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 0 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 AAGGTATGTTCGTATCTCTTC 0.488000 28 41 0 0 0.750413 0 0 SUGP1 57794 broad.mit.edu 37 19 19414741 19414741 + Missense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:19414741A>T ENST00000334782.5 - 5 662 c.650T>A c.(649-651)cTc>cAc p.L217H SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 637 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 ACAACGACAGAGGGGGTGGGG 0.577000 15 91 0 0 0.479597 0 0 SLC9A6 10479 broad.mit.edu 37 X 135092658 135092658 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:135092658G>A ENST00000370695.4 + 7 992 c.957G>A c.(955-957)gcG>gcA p.A319A SLC9A6_ENST00000370698.3_Silent_p.A287A|SLC9A6_ENST00000370701.1_Silent_p.A267A NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 287 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) ATGTCACAGCGATGTTCAAGT 0.428000 8 69 0 0 0.307466 0 0 MICAL3 57553 broad.mit.edu 37 22 18300933 18300933 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr22:18300933G>A ENST00000441493.2 - 26 4846 c.4494C>T c.(4492-4494)ccC>ccT p.P1498P NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1498 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CAGGCTCCCGGGGGGGCCGCA 0.682000 7 13 0 0 0.335167 0 0 ACACA 31 broad.mit.edu 37 17 35562785 35562785 + Splice_Site SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:35562785A>G ENST00000353139.5 - 33 4431 c.3948_splice c.e33-1 p.V1317_splice ACACA_ENST00000360679.3_Splice_Site_p.V1222_splice|ACACA_ENST00000335166.5_Splice_Site_p.V1202_splice|ACACA_ENST00000394406.2_Splice_Site_p.V1280_splice NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1280 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATCCCTGGGAACCTGTAACTC 0.398000 26 93 0 0 0.706142 0 0 KCNH4 23415 broad.mit.edu 37 17 40315707 40315707 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:40315707G>A ENST00000264661.3 - 13 2726 c.2394C>T c.(2392-2394)ccC>ccT p.P798P KCNH4_ENST00000607371.1_Silent_p.P798P NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 798 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGCACCTGGGGGGGCCGTGAG 0.667000 12 7 0 0 0.520397 0 0 POU2F2 5452 broad.mit.edu 37 19 42626663 42626663 + Splice_Site SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:42626663C>T ENST00000389341.5 - 2 160 c.94_splice c.e2+1 p.D32_splice POU2F2_ENST00000526816.2_Splice_Site_p.D32_splice|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000342301.4_Splice_Site_p.D32_splice|POU2F2_ENST00000560558.1_Splice_Site_p.D32_splice|POU2F2_ENST00000560398.1_Splice_Site_p.D32_splice|POU2F2_ENST00000533720.1_Splice_Site_p.D32_splice|POU2F2_ENST00000529952.1_Splice_Site_p.D32_splice|POU2F2_ENST00000529067.1_Splice_Site_p.D32_splice NM_001207025.2|NM_001247994.1|NM_002698.4 NP_001193954.1|NP_001234923.1|NP_002689.1 P09086 PO2F2_HUMAN POU class 2 homeobox 2 32 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) GCCCACCCACCTGTGTGCTCT 0.627000 19 16 0 0 0.592651 0 0 CANT1 124583 broad.mit.edu 37 17 76993389 76993389 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:76993389G>A ENST00000302345.2 - 2 810 c.316C>T c.(316-318)Cga>Tga p.R106* CANT1_ENST00000591773.1_Nonsense_Mutation_p.R106*|CANT1_ENST00000392446.5_Nonsense_Mutation_p.R106* NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 106 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) ACTGCGATTCGATACCGAATC 0.567000 T ETV4 prostate 55 127 0 0 0.870114 0 0 MPP1 4354 broad.mit.edu 37 X 154020553 154020553 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:154020553G>A ENST00000413259.3 - 3 412 c.20C>T c.(19-21)tCg>tTg p.S7L MPP1_ENST00000393531.1_Missense_Mutation_p.S37L|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.S37L NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 37 regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 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) CAATGGATGCGATACAGCCTG 0.532000 4 40 0 0 0.248553 0 0 HELZ2 85441 broad.mit.edu 37 20 62192810 62192810 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:62192810G>A ENST00000467148.1 - 13 6915 c.6846C>T c.(6844-6846)acC>acT p.T2282T HELZ2_ENST00000427522.2_Silent_p.T1713T NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GGTGGTGCAGGGTGATGCTCC 0.637000 38 107 0 0 0.870114 0 0 UPF3B 65109 broad.mit.edu 37 X 118971941 118971941 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:118971941G>A ENST00000276201.2 - 10 1150 c.1081C>T c.(1081-1083)Cga>Tga p.R361* UPF3B_ENST00000345865.2_Nonsense_Mutation_p.R348* NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 361 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.R361*(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TCTCTTTCTCGAAGTATGCGC 0.463000 4 53 0 0 0.184627 0 0 CYB5R1 51706 broad.mit.edu 37 1 202932811 202932811 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:202932811G>A ENST00000367249.4 - 7 678 c.604C>T c.(604-606)Cct>Tct p.P202S CYB5R1_ENST00000497655.1_5'UTR NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 202 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) GGATCTTCAGGGACTTTCAGG 0.517000 16 11 0 0 0.592651 0 0 PPFIA4 8497 broad.mit.edu 37 1 203040888 203040888 + Splice_Site SNP C C G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:203040888C>G ENST00000367240.2 + 27 3857 c.3330_splice c.e27+1 p.D1110_splice PPFIA4_ENST00000599966.1_Splice_Site_p.D616_splice|PPFIA4_ENST00000272198.6_Splice_Site_p.D625_splice|PPFIA4_ENST00000414050.2_Splice_Site_p.D838_splice|PPFIA4_ENST00000295706.4_Splice_Site_p.D616_splice|PPFIA4_ENST00000447715.2_Splice_Site_p.D1109_splice O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 625 cell communication cell surface|cytoplasm protein binding p.D625D(1)|p.D1255D(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AGCTGGATGACGTGAGTACCT 0.522000 8 5 0 0 0.387290 0 0 PELI2 57161 broad.mit.edu 37 14 56755318 56755318 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:56755318C>T ENST00000267460.4 + 4 759 c.473C>T c.(472-474)gCc>gTc p.A158V NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 158 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 ATATTCGCCGCCGGATTTGAC 0.438000 16 7 0 0 0.608945 0 0 ADAM29 11086 broad.mit.edu 37 4 175898946 175898946 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:175898946C>T ENST00000359240.3 + 5 2940 c.2270C>T c.(2269-2271)tCc>tTc p.S757F ADAM29_ENST00000514159.1_Missense_Mutation_p.S757F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S757F|ADAM29_ENST00000404450.4_Missense_Mutation_p.S757F|RP13-577H12.2_ENST00000507525.1_RNA NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 757 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTGATGCCTTCCCAGAGTCAA 0.562000 84 32 0 0 0.870114 0 0 POLR2A 5430 broad.mit.edu 37 17 7417412 7417412 + Silent SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:7417412T>C ENST00000322644.6 + 29 6228 c.5829T>C c.(5827-5829)acT>acC p.T1943T NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1943 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ACTCTCCCACTTCCCCTGGTT 0.632000 31 33 0 0 0.834066 0 0 CCDC60 160777 broad.mit.edu 37 12 119957972 119957972 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:119957972G>A ENST00000327554.2 + 9 1480 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 339 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) TGCTTATAAGGAAATGCAGAC 0.483000 29 82 0 0 0.760397 0 0 BMP6 654 broad.mit.edu 37 6 7880313 7880313 + Missense_Mutation SNP C C A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:7880313C>A ENST00000283147.6 + 6 1530 c.1371C>A c.(1369-1371)aaC>aaA p.N457K NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 457 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) ATGCAACCAACCACGCGATTG 0.483000 48 103 2.2129e-31 2.24793e-31 0.870114 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 109 0 0 0.184627 0 0 PLCD3 113026 broad.mit.edu 37 17 43196224 43196224 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:43196224G>A ENST00000322765.5 - 5 984 c.871C>T c.(871-873)Cgc>Tgc p.R291C PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 291 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R291S(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) TGCTGGGCGCGGGCCAGTGTG 0.652000 7 10 0 0 0.335167 0 0 FAM183B 340286 broad.mit.edu 37 7 38725602 38725602 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:38725602C>T ENST00000409072.3 - 2 938 c.4G>A c.(4-6)Gcg>Acg p.A2T family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GGGTGTCCCGCCATAGCCTTG 0.602000 19 10 0 0 0.639603 0 0 DAZAP2 9802 broad.mit.edu 37 12 51634702 51634702 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:51634702C>T ENST00000412716.3 + 3 796 c.180C>T c.(178-180)acC>acT p.T60T DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000549555.1_Silent_p.T60T|DAZAP2_ENST00000604900.1_Silent_p.T60T|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000449723.3_Silent_p.T60T|DAZAP2_ENST00000425012.2_Silent_p.T60T Q15038 DAZP2_HUMAN DAZ associated protein 2 60 Pro-rich. WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 CAGTCCCCACCATGTCAGCCG 0.512000 25 67 0 0 0.729181 0 0 STXBP4 252983 broad.mit.edu 37 17 53237185 53237185 + Silent SNP C C T rs115962086 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:53237185C>T ENST00000376352.2 + 18 1782 c.1575C>T c.(1573-1575)atC>atT p.I525I STXBP4_ENST00000434978.2_Silent_p.I503I NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 525 WW. cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 CATCCTGGATCCATCCCGTGA 0.433000 16 49 0 0 0.608945 0 0 ACAN 176 broad.mit.edu 37 15 89392754 89392754 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:89392754C>T ENST00000439576.2 + 10 2192 c.1818C>T c.(1816-1818)gcC>gcT p.A606A ACAN_ENST00000561243.1_Silent_p.A606A|ACAN_ENST00000559004.1_Silent_p.A606A|ACAN_ENST00000558207.1_Silent_p.A606A|ACAN_ENST00000352105.7_Silent_p.A606A NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 606 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTACGCTGGCCACCACGGGCC 0.647000 11 9 0 0 0.411799 0 0 THSD7B 80731 broad.mit.edu 37 2 138425365 138425365 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:138425365T>C ENST00000409968.1 + 27 4851 c.4673T>C c.(4672-4674)gTt>gCt p.V1558A THSD7B_ENST00000413152.2_Missense_Mutation_p.V1530A|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1561A 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) AAAATTTGGGTTTATGGCGTT 0.358000 6 1 0 0 0.278610 0 0 ZNF829 374899 broad.mit.edu 37 19 37399336 37399336 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:37399336G>A ENST00000520965.1 - 4 431 c.365C>T c.(364-366)tCc>tTc p.S122F ZNF829_ENST00000391711.3_Missense_Mutation_p.S41F|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 41 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGTCTATGGAAACATCCCT 0.438000 31 22 0 0 0.804634 0 0 EGR4 1961 broad.mit.edu 37 2 73518772 73518772 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:73518772A>G ENST00000436467.2 - 2 1661 c.1274T>C c.(1273-1275)cTc>cCc p.L425P EGR4_ENST00000545030.1_Missense_Mutation_p.L528P B7ZKU3 B7ZKU3_HUMAN early growth response 4 424 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GTGCGTGGTGAGGTGGTCGCT 0.662000 21 35 0 0 0.706142 0 0 STOX2 56977 broad.mit.edu 37 4 184930405 184930405 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:184930405C>T ENST00000308497.4 + 3 1849 c.414C>T c.(412-414)atC>atT p.I138I STOX2_ENST00000438269.1_Silent_p.I138I NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 138 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) GCTACTTCATCGTGACCCCAC 0.493000 7 9 0 0 0.278610 0 0 CDH8 1006 broad.mit.edu 37 16 61687817 61687817 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:61687817C>T ENST00000577390.1 - 12 3049 c.2095G>A c.(2095-2097)Gat>Aat p.D699N CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.D699N NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 699 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D699Y(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGTTTAATATCCTTACGGGGT 0.428000 42 22 0 0 0.853193 0 0 OR2F2 135948 broad.mit.edu 37 7 143632997 143632997 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:143632997C>T ENST00000408955.2 + 1 739 c.672C>T c.(670-672)acC>acT p.T224T NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T224K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCATCTCCACCATCCTAAAGA 0.507000 25 49 0 0 0.760397 0 0 GALNT13 114805 broad.mit.edu 37 2 155099270 155099270 + Missense_Mutation SNP A A T rs149581963 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:155099270A>T ENST00000392825.3 + 6 1105 c.538A>T c.(538-540)Att>Ttt p.I180F GALNT13_ENST00000409237.1_Missense_Mutation_p.I180F NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 180 Catalytic subdomain A. 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 AGTAAAAATTATTAGGATGGA 0.358000 17 12 0 0 0.608945 0 0 HECW1 23072 broad.mit.edu 37 7 43484956 43484956 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:43484956G>A ENST00000395891.1 + 11 2790 c.2185G>A c.(2185-2187)Gag>Aag p.E729K HECW1_ENST00000453890.1_Missense_Mutation_p.E729K NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 729 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CAAGATCTCCGAGAGCACGGT 0.637000 58 76 0 0 0.870114 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969393 140969393 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:140969393C>T ENST00000298296.1 + 4 720 c.720C>T c.(718-720)tcC>tcT p.S240S MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 240 MAGE 1. 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) TTGGCATTTCCCTGACAGAAG 0.478000 25 16 0 0 0.706142 0 0 TRPM7 54822 broad.mit.edu 37 15 50899415 50899415 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:50899415G>A ENST00000313478.7 - 20 2972 c.2691C>T c.(2689-2691)gcC>gcT p.A897A TRPM7_ENST00000560955.1_Silent_p.A897A NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 897 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) CTTTCTCAATGGCATAAGTAA 0.313000 19 27 0 0 0.667858 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806188 97806188 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:97806188C>T ENST00000358642.2 + 1 172 c.172C>T c.(172-174)Cat>Tat p.H58Y NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CCCCCATCTTCATATGCCCAT 0.443000 74 139 0 0 0.870114 0 0 MYH2 4620 broad.mit.edu 37 17 10438617 10438617 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:10438617G>A ENST00000245503.5 - 18 2424 c.2040C>T c.(2038-2040)atC>atT p.I680I MYH2_ENST00000397183.2_Silent_p.I680I|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 680 Actin-binding (By similarity).|Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(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 TCTCATTGGGGATGATACACC 0.413000 6 21 0 0 0.248553 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719075 140719075 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140719075C>T ENST00000394576.2 + 1 537 c.537C>T c.(535-537)tcC>tcT p.S179S PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCACTTCTCCCTGGACGTGC 0.562000 56 22 0 0 0.870114 0 0 IGHV4-4 28401 broad.mit.edu 37 14 106478136 106478136 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:106478136C>T ENST00000390596.2 - 0 385 ACGGCCGTGTCCGCGGCGGTC 0.607000 30 327 0 0 0.870114 0 0 GZMH 2999 broad.mit.edu 37 14 25076890 25076890 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:25076890G>A ENST00000216338.4 - 3 311 c.267C>T c.(265-267)atC>atT p.I89I RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000382548.4_Silent_p.I89I|GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000555300.1_RNA NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 89 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) TTTTCACAGGGATAAACTGCT 0.532000 65 22 0 0 0.870114 0 0 BTK 695 broad.mit.edu 37 X 100626636 100626636 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:100626636G>A ENST00000308731.7 - 4 457 c.294C>T c.(292-294)ttC>ttT p.F98F BTK_ENST00000372880.1_Silent_p.F98F NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 98 PH. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AGGGATAAGGGAACCTTTCAA 0.433000 Agammaglobulinemia, X-linked 35 23 0 0 0.864702 0 0 ALPK2 115701 broad.mit.edu 37 18 56203089 56203089 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:56203089C>T ENST00000361673.3 - 5 4543 c.4330G>A c.(4330-4332)Gaa>Aaa p.E1444K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1444 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATTTCCGCTTCGTGGCCCATG 0.512000 11 24 0 0 0.479597 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123448281 123448281 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:123448281C>T ENST00000529750.1 + 2 557 c.230C>T c.(229-231)tCc>tTc p.S77F GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S77F|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S77F NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 77 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GGCAAGAATTCCAAGGTGAGC 0.662000 OREG0021454 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 1 0 0 0.150653 0 0 WLS 79971 broad.mit.edu 37 1 68659877 68659877 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:68659877G>A ENST00000262348.4 - 2 393 c.140C>T c.(139-141)tCg>tTg p.S47L WLS_ENST00000370976.3_Intron|WLS_ENST00000370971.1_Missense_Mutation_p.S47L|WLS_ENST00000354777.2_Missense_Mutation_p.S45L|WLS_ENST00000540432.1_Missense_Mutation_p.S47L|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 47 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 ACATTTCACCGACATGTAGGA 0.443000 17 10 0 0 0.624587 0 0 ARSF 416 broad.mit.edu 37 X 3030310 3030310 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:3030310G>A ENST00000381127.1 + 11 1707 c.1486G>A c.(1486-1488)Gaa>Aaa p.E496K ARSF_ENST00000359361.2_Missense_Mutation_p.E496K|ARSF_ENST00000537104.1_Missense_Mutation_p.E496K NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 496 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATGTTTCGGAGAACAGGTTAC 0.557000 23 32 0 0 0.717897 0 0 CPAMD8 27151 broad.mit.edu 37 19 17068694 17068694 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:17068694C>T ENST00000443236.1 - 19 2417 c.2386G>A c.(2386-2388)Gaa>Aaa p.E796K CPAMD8_ENST00000388925.4_3'UTR NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 749 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ATCCATGTTTCGGGGAAGAAA 0.393000 86 67 0 0 0.870114 0 0 PAX7 5081 broad.mit.edu 37 1 18961677 18961677 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:18961677G>A ENST00000420770.2 + 3 477 c.394G>A c.(394-396)Gag>Aag p.E132K PAX7_ENST00000400661.3_Missense_Mutation_p.E132K|PAX7_ENST00000375375.3_Missense_Mutation_p.E132K NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 132 Paired. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) GTTCAGCTGGGAGATCCGGGA 0.587000 T FOXO1A alveolar rhabdomyosarcoma 46 21 0 0 0.870114 0 0 MFSD2A 84879 broad.mit.edu 37 1 40432817 40432817 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:40432817C>T ENST00000372809.5 + 9 1169 c.1026C>T c.(1024-1026)ttC>ttT p.F342F MFSD2A_ENST00000420632.2_Silent_p.F173F|MFSD2A_ENST00000372811.5_Silent_p.F329F|MFSD2A_ENST00000480630.1_Intron NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 342 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GCAATGAATTCCAGAATCTAC 0.547000 37 17 0 0 0.870114 0 0 PPP6C 5537 broad.mit.edu 37 9 127915925 127915925 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:127915925G>A ENST00000451402.1 - 7 887 c.667C>T c.(667-669)Cct>Tct p.P223S PPP6C_ENST00000415905.1_Missense_Mutation_p.P164S|PPP6C_ENST00000373547.4_Missense_Mutation_p.P186S|PPP6C_ENST00000373546.3_Missense_Mutation_p.P39S NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 186 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 CCTTTATGAGGAATTTCCTGA 0.433000 26 9 0 0 0.706142 0 0 ABCA12 26154 broad.mit.edu 37 2 215855672 215855672 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:215855672G>A ENST00000272895.7 - 24 3597 c.3378C>T c.(3376-3378)atC>atT p.I1126I ABCA12_ENST00000389661.4_Silent_p.I808I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1126 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGAGGATCACGATGGTAACCA 0.378000 21 75 0 0 0.639603 0 0 OR51T1 401665 broad.mit.edu 37 11 4903486 4903486 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:4903486C>T ENST00000380378.1 + 1 438 c.438C>T c.(436-438)gcC>gcT p.A146A MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.A119A|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCTGGTAGCCATGGCCTTTG 0.493000 40 18 0 0 0.870114 0 0 PSG5 5673 broad.mit.edu 37 19 43683229 43683229 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:43683229G>A ENST00000599812.1 - 3 606 c.511C>T c.(511-513)Cct>Tct p.P171S PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 171 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GAAGCCGCAGGATCACAGGTT 0.512000 26 117 0 0 0.729181 0 0 DNAH1 25981 broad.mit.edu 37 3 52404564 52404564 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:52404564C>T ENST00000420323.2 + 40 6591 c.6330C>T c.(6328-6330)tcC>tcT p.S2110S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2110 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCATCTTCTCCCTGATCTGGA 0.567000 9 14 0 0 0.361761 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319632 21319632 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:21319632C>T ENST00000583088.1 + 3 1873 c.978C>T c.(976-978)cgC>cgT p.R326R KCNJ12_ENST00000331718.5_Silent_p.R326R NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GGGGTCACCGCTTTGAGCCCG 0.587000 Prostate(3;0.18) 13 177 0 0 0.557998 0 0 DNAH11 8701 broad.mit.edu 37 7 21646282 21646282 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:21646282C>T ENST00000328843.6 + 20 3814 c.3783C>T c.(3781-3783)ttC>ttT p.F1261F DNAH11_ENST00000409508.3_Silent_p.F1261F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1261 Stem (By similarity). 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 AGGCAGAGTTCAGAGAGAGAT 0.338000 Kartagener syndrome 12 5 0 0 0.411799 0 0 BEND2 139105 broad.mit.edu 37 X 18221933 18221933 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:18221933C>T ENST00000380033.4 - 5 727 c.595G>A c.(595-597)Gaa>Aaa p.E199K BEND2_ENST00000380030.3_Missense_Mutation_p.E199K NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 199 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AGGTCTGCTTCCTGCAGTTCA 0.488000 45 60 0 0 0.870114 0 0 PXDNL 137902 broad.mit.edu 37 8 52321203 52321203 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:52321203C>T ENST00000356297.4 - 17 3081 c.2981G>A c.(2980-2982)gGa>gAa p.G994E PXDNL_ENST00000543296.1_Missense_Mutation_p.G994E NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 994 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AACCGTGTTTCCCTCCCAGTG 0.637000 7 5 0 0 0.307466 0 0 MPO 4353 broad.mit.edu 37 17 56352921 56352921 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:56352921G>A ENST00000340482.3 - 7 1619 c.1443C>T c.(1441-1443)atC>atT p.I481I MPO_ENST00000225275.3_Silent_p.I449I P05164 PERM_HUMAN myeloperoxidase 449 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) TGGCCCCCACGATCTTCCGGG 0.602000 17 36 0 0 0.575678 0 0 COL3A1 1281 broad.mit.edu 37 2 189875410 189875410 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:189875410C>T ENST00000304636.3 + 50 4218 c.4048C>T c.(4048-4050)Ctt>Ttt p.L1350F COL3A1_ENST00000317840.5_Missense_Mutation_p.L1047F NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1350 Fibrillar collagen NC1. 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) TGAAGATGTCCTTGATGTGCA 0.438000 9 108 0 0 0.779181 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138892 101138892 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:101138892G>A ENST00000372782.3 - 7 1554 c.1507C>T c.(1507-1509)Cag>Tag p.Q503* ZMAT1_ENST00000540921.1_Nonsense_Mutation_p.Q503*|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Nonsense_Mutation_p.Q332* NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 332 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTTTCTTGCTGATTAAGGCTC 0.408000 4 8 0 0 0.248553 0 0 CSF3R 1441 broad.mit.edu 37 1 36932012 36932012 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:36932012G>A ENST00000373103.1 - 17 3085 c.2538C>T c.(2536-2538)ttC>ttT p.F846F CSF3R_ENST00000361632.4_Silent_p.F819F|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Silent_p.F819F|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000373106.1_Silent_p.F819F|CSF3R_ENST00000440588.2_Silent_p.F846F|CSF3R_ENST00000331941.5_Intron NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 819 cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GCAGGAGGGGGAAGTTGAGCA 0.632000 8 5 0 0 0.387290 0 0 LTBP4 8425 broad.mit.edu 37 19 41113412 41113412 + Missense_Mutation SNP A A T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:41113412A>T ENST00000308370.7 + 10 1334 c.1334A>T c.(1333-1335)cAg>cTg p.Q445L LTBP4_ENST00000204005.9_Missense_Mutation_p.Q408L|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.Q378L NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 445 TB 2. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGGGGCTGCCAGCTCTGCCCA 0.662000 12 4 0 0 0.500413 0 0 FAM135B 51059 broad.mit.edu 37 8 139165169 139165169 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:139165169C>T ENST00000395297.1 - 13 1719 c.1549G>A c.(1549-1551)Gaa>Aaa p.E517K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 517 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCCAACATTCATCTTCAGGC 0.458000 HNSCC(54;0.14) 60 68 0 0 0.870114 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128925 197128925 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:197128925G>A ENST00000367405.4 - 10 2362 c.2294C>T c.(2293-2295)tCc>tTc p.S765F ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 765 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 AACTGGCAAGGATACAAGTTT 0.383000 96 27 0 0 0.870114 0 0 OR10T2 128360 broad.mit.edu 37 1 158368942 158368942 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:158368942G>A ENST00000334438.1 - 1 314 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CAAAGCCAAGGAAAAAGAACA 0.498000 38 13 0 0 0.827153 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195936311 195936311 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:195936311G>A ENST00000296326.3 - 3 423 c.344C>T c.(343-345)cCa>cTa p.P115L ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 115 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GCAGCACTTTGGACACCATTG 0.657000 8 13 0 0 0.361761 0 0 MYH2 4620 broad.mit.edu 37 17 10429959 10429959 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:10429959C>T ENST00000245503.5 - 30 4528 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1382K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1382 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 GCGTCCGTCTCGTATTTGGTC 0.532000 91 91 0 0 0.870114 0 0 ABCB5 340273 broad.mit.edu 37 7 20687681 20687681 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:20687681C>T ENST00000404938.2 + 11 1838 c.1186C>T c.(1186-1188)Cca>Tca p.P396S ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000477094.1_3'UTR NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 580 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTTCAATTATCCATCAAGACC 0.338000 12 3 0 0 0.479597 0 0 GABRQ 55879 broad.mit.edu 37 X 151818907 151818907 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:151818907G>A ENST00000370306.2 + 7 785 c.765G>A c.(763-765)ctG>ctA p.L255L NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 255 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) ACATACGCCTGATACTGAAGT 0.517000 16 147 0 0 0.575678 0 0 GCA 25801 broad.mit.edu 37 2 163204218 163204218 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:163204218C>T ENST00000437150.2 + 2 319 c.158C>T c.(157-159)tCc>tTc p.S53F GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.S34F|GCA_ENST00000233612.4_Missense_Mutation_p.S34F NM_012198.3 NP_036330.1 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 53 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 GCTGGTGACTCCGTGTATACT 0.423000 24 37 0 0 0.717897 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110453598 110453598 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:110453598G>A ENST00000378402.5 + 34 4298 c.4194G>A c.(4192-4194)ggG>ggA p.G1398G NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1398 IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCAACAATGGGAAAGATTCAG 0.289000 HNSCC(38;0.096) 5 5 0 0 0.248553 0 0 NES 10763 broad.mit.edu 37 1 156639850 156639850 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:156639850G>A ENST00000368223.3 - 4 4262 c.4130C>T c.(4129-4131)cCt>cTt p.P1377L NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1377 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity p.P1377H(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGAAGAAAAGGTGCCTCAGT 0.617000 22 5 0 0 0.667858 0 0 KCNK7 10089 broad.mit.edu 37 11 65363008 65363008 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:65363008G>A ENST00000394216.2 - 1 459 c.236C>T c.(235-237)tCc>tTc p.S79F KCNK7_ENST00000340313.4_Missense_Mutation_p.S79F|KCNK7_ENST00000394217.2_Missense_Mutation_p.S79F|KCNK7_ENST00000342202.4_Missense_Mutation_p.S79F NM_005714.1|NM_033455.1 NP_005705.1|NP_258416.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 79 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 GCCCAGGGTGGAGACCCCATG 0.667000 9 2 0 0 0.387290 0 0 TMEM35 59353 broad.mit.edu 37 X 100349862 100349862 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:100349862G>A ENST00000372930.4 + 2 704 c.421G>A c.(421-423)Gag>Aag p.E141K TMEM35_ENST00000478351.1_3'UTR NM_021637.2 NP_067650.1 Q53FP2 TMM35_HUMAN transmembrane protein 35 141 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1) 7 CCGGTCTTCTGAGAAGAAGCC 0.537000 19 24 0 0 0.624587 0 0 FCN2 2220 broad.mit.edu 37 9 137778323 137778323 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:137778323C>T ENST00000350339.2 + 6 507 c.493C>T c.(493-495)Cag>Tag p.Q165* FCN2_ENST00000291744.6_Nonsense_Mutation_p.Q203* NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 203 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GGACAACTACCAGTTTGCTAA 0.547000 55 24 0 0 0.870114 0 0 KIF23 9493 broad.mit.edu 37 15 69732339 69732339 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:69732339T>C ENST00000260363.4 + 16 1927 c.1810T>C c.(1810-1812)Ttt>Ctt p.F604L KIF23_ENST00000352331.4_Missense_Mutation_p.F604L|KIF23_ENST00000559279.1_Missense_Mutation_p.F604L|KIF23_ENST00000537891.1_Missense_Mutation_p.F421L|KIF23_ENST00000395392.2_Missense_Mutation_p.F604L|KIF23_ENST00000558585.1_Missense_Mutation_p.F421L NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 604 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TCAGCGACAGTTTTCTGACAA 0.408000 8 27 0 0 0.278610 0 0 ZCCHC2 54877 broad.mit.edu 37 18 60242640 60242640 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:60242640C>T ENST00000269499.5 + 13 3744 c.3326C>T c.(3325-3327)cCt>cTt p.P1109L ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P788L NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 1109 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AGATTCTATCCTGTATATCCA 0.493000 8 12 0 0 0.335167 0 0 ZNF711 7552 broad.mit.edu 37 X 84526097 84526097 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:84526097C>T ENST00000360700.4 + 10 2573 c.1687C>T c.(1687-1689)Cct>Tct p.P563S ZNF711_ENST00000395402.1_Missense_Mutation_p.P525S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P517S|ZNF711_ENST00000542798.1_Missense_Mutation_p.P359S|ZNF711_ENST00000373165.3_Missense_Mutation_p.P517S Q9Y462 ZN711_HUMAN zinc finger protein 711 517 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TTTTCGACATCCTTCTGAACT 0.408000 16 19 0 0 0.592651 0 0 SNORD115-44 100033818 broad.mit.edu 37 15 25496072 25496072 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:25496072G>A ENST00000365391.1 + 0 67 NR_003359.1 TGCTCAATAGGATTACGCTGA 0.527000 74 211 0 0 0.870114 0 0 WFDC8 90199 broad.mit.edu 37 20 44187613 44187613 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:44187613G>A ENST00000357199.4 - 3 233 c.155C>T c.(154-156)cCc>cTc p.P52L WFDC8_ENST00000289953.2_Missense_Mutation_p.P52L NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 52 WAP 1. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) CCTCTCTTTGGGACATAACCC 0.428000 29 107 0 0 0.819951 0 0 DENND3 22898 broad.mit.edu 37 8 142166030 142166030 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:142166030C>T ENST00000519811.1 + 8 1227 c.1157C>T c.(1156-1158)cCt>cTt p.P386L DENND3_ENST00000424248.1_Missense_Mutation_p.P306L|DENND3_ENST00000262585.2_Missense_Mutation_p.P306L A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 306 dDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GTGGACATTCCTGATGTCCCC 0.448000 42 51 0 0 0.870114 0 0 FAT3 120114 broad.mit.edu 37 11 92085966 92085966 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:92085966G>A ENST00000298047.6 + 1 705 c.688G>A c.(688-690)Gaa>Aaa p.E230K FAT3_ENST00000525166.1_Missense_Mutation_p.E80K|FAT3_ENST00000541502.1_Missense_Mutation_p.E230K|FAT3_ENST00000409404.2_Missense_Mutation_p.E230K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 230 Cadherin 2. 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) GTATGATCTGGAAATTTTGGC 0.393000 TCGA Ovarian(4;0.039) 35 65 0 0 0.819951 0 0 SLC12A6 9990 broad.mit.edu 37 15 34551109 34551109 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:34551109G>A ENST00000354181.3 - 5 940 c.448C>T c.(448-450)Ctc>Ttc p.L150F SLC12A6_ENST00000451844.2_Missense_Mutation_p.L11F|SLC12A6_ENST00000458406.2_Missense_Mutation_p.L91F|SLC12A6_ENST00000558589.1_Missense_Mutation_p.L141F|SLC12A6_ENST00000397707.2_Missense_Mutation_p.L135F|SLC12A6_ENST00000558667.1_Missense_Mutation_p.L150F|SLC12A6_ENST00000560611.1_Missense_Mutation_p.L150F|SLC12A6_ENST00000290209.5_Missense_Mutation_p.L99F|SLC12A6_ENST00000560164.1_Missense_Mutation_p.L11F|SLC12A6_ENST00000397702.2_Missense_Mutation_p.L91F Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 150 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ATGCGGTTGAGGAGGGAAGAC 0.433000 11 26 0 0 0.411799 0 0 MUTYH 4595 broad.mit.edu 37 1 45797205 45797205 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:45797205A>G ENST00000450313.1 - 13 1425 c.1210T>C c.(1210-1212)Ttc>Ctc p.F404L MUTYH_ENST00000372098.3_Missense_Mutation_p.F401L|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.F376L|MUTYH_ENST00000372110.3_Missense_Mutation_p.F391L|MUTYH_ENST00000372115.3_Missense_Mutation_p.F390L|MUTYH_ENST00000355498.2_Missense_Mutation_p.F376L|MUTYH_ENST00000448481.1_Missense_Mutation_p.F387L|MUTYH_ENST00000529984.1_Missense_Mutation_p.F71L|MUTYH_ENST00000456914.2_Missense_Mutation_p.F376L|MUTYH_ENST00000372100.5_Missense_Mutation_p.F387L|MUTYH_ENST00000488731.2_Missense_Mutation_p.F71L|MUTYH_ENST00000528332.2_Missense_Mutation_p.F85L|MUTYH_ENST00000354383.6_Missense_Mutation_p.F377L NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 401 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) ACGGACGGGAACTCCCACAGT 0.652000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 20 3 0 0 0.624587 0 0 TNFRSF10D 8793 broad.mit.edu 37 8 23003370 23003370 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:23003370C>T ENST00000312584.3 - 5 641 c.547G>A c.(547-549)Gaa>Aaa p.E183K NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain 183 anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) GCAGCTGATTCATTTTTGCAC 0.532000 52 46 0 0 0.870114 0 0 PDE3A 5139 broad.mit.edu 37 12 20786684 20786684 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:20786684G>A ENST00000359062.3 + 7 1858 c.1818G>A c.(1816-1818)ggG>ggA p.G606G PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 606 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) AGAGAAGTGGGGTAGCCACTC 0.433000 15 20 0 0 0.592651 0 0 CHL1 10752 broad.mit.edu 37 3 432737 432737 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:432737C>T ENST00000256509.2 + 22 3328 c.2686C>T c.(2686-2688)Cct>Tct p.P896S CHL1_ENST00000397491.2_Missense_Mutation_p.P880S NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 880 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGGAATGGTTCCTTCCTTAGA 0.368000 19 27 0 0 0.575678 0 0 OXLD1 339229 broad.mit.edu 37 17 79632478 79632478 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:79632478G>A ENST00000374741.3 - 2 207 c.197C>T c.(196-198)tCc>tTc p.S66F OXLD1_ENST00000573786.1_5'UTR|OXLD1_ENST00000571503.1_3'UTR NM_001039842.1 NP_001034931.1 oxidoreductase-like domain containing 1 ACCTGCTTGGGAGCCCACCTC 0.642000 7 47 0 0 0.278610 0 0 PHKG1 5260 broad.mit.edu 37 7 56149604 56149604 + Silent SNP C C T rs145703798 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:56149604C>T ENST00000452681.2 - 9 1019 c.870G>A c.(868-870)tcG>tcA p.S290S PHKG1_ENST00000297373.2_Silent_p.S258S|PHKG1_ENST00000537360.1_Silent_p.S204S NM_001258459.1 NP_001245388.1 Q16816 PHKG1_HUMAN phosphorylase kinase, gamma 1 (muscle) 258 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity endometrium(1)|large_intestine(1)|lung(5) 7 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCACGGTGTCCGAGTAATCAT 0.652000 8 14 0 0 0.307466 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185188 127185188 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:127185188G>A ENST00000371124.3 - 1 1194 c.998C>T c.(997-999)tCt>tTt p.S333F NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 333 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TCTATCAGGAGAAGCTGTGAT 0.527000 4 32 0 0 0.184627 0 0 CD177 57126 broad.mit.edu 37 19 43859894 43859894 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:43859894G>A ENST00000378009.4 + 0 503 CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TGCCCCAAGGGGACCACACAC 0.577000 17 17 0 0 0.575678 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960605 73960605 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:73960605G>A ENST00000373468.1 - 3 4438 c.3787C>T c.(3787-3789)Caa>Taa p.Q1263* KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.Q1263* Q5QGS0 K2022_HUMAN KIAA2022 1263 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CCACCATGTTGGATACATTCA 0.517000 3 6 0 0 0.150653 0 0 HECW2 57520 broad.mit.edu 37 2 197194325 197194325 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:197194325C>T ENST00000260983.2 - 5 727 c.545G>A c.(544-546)cGa>cAa p.R182Q HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 182 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AACAAGTTTTCGAGAATGCAG 0.408000 41 61 0 0 0.870114 0 0 SCN5A 6331 broad.mit.edu 37 3 38647496 38647496 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:38647496C>T ENST00000413689.1 - 10 1477 c.1284G>A c.(1282-1284)gaG>gaA p.E428E SCN5A_ENST00000425664.1_Silent_p.E428E|SCN5A_ENST00000451551.2_Silent_p.E428E|SCN5A_ENST00000423572.2_Silent_p.E428E|SCN5A_ENST00000443581.1_Silent_p.E428E|SCN5A_ENST00000333535.4_Silent_p.E428E|SCN5A_ENST00000450102.2_Silent_p.E428E|SCN5A_ENST00000414099.2_Silent_p.E428E|SCN5A_ENST00000455624.2_Silent_p.E428E|SCN5A_ENST00000449557.2_Silent_p.E428E NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 428 E -> K (found in patients with atrial fibrillation). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TTTCCTTCTCCTCGGTCTCAG 0.562000 15 36 0 0 0.539581 0 0 TMEM209 84928 broad.mit.edu 37 7 129841883 129841883 + Missense_Mutation SNP G G T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:129841883G>T ENST00000397622.2 - 5 502 c.380C>A c.(379-381)cCc>cAc p.P127H RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.P126H|TMEM209_ENST00000462753.1_Missense_Mutation_p.P126H|TMEM209_ENST00000473456.1_Missense_Mutation_p.P127H NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 127 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) AGGTGGAGCGGGAGGGATTTG 0.458000 23 39 6.12954e-19 6.19389e-19 0.681144 1 0 OR14J1 442191 broad.mit.edu 37 6 29275264 29275264 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:29275264G>A ENST00000377160.2 + 1 862 c.798G>A c.(796-798)tcG>tcA p.S266S NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 ATTCCTCATCGACTGTGGACC 0.458000 62 69 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179640313 179640313 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:179640313G>A ENST00000589042.1 - 28 6502 c.6278C>T c.(6277-6279)tCt>tTt p.S2093F TTN_ENST00000342175.6_Missense_Mutation_p.S2047F|TTN_ENST00000342992.6_Missense_Mutation_p.S2093F|TTN_ENST00000591111.1_Missense_Mutation_p.S2093F|TTN_ENST00000460472.2_Missense_Mutation_p.S2047F|TTN_ENST00000360870.5_Missense_Mutation_p.S2093F|TTN_ENST00000359218.5_Missense_Mutation_p.S2047F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1856 Ig-like 10. 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) GTGTGCATCAGATCCTTGGCC 0.463000 17 25 0 0 0.608945 0 0 HYKK 123688 broad.mit.edu 37 15 78819789 78819789 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:78819789C>T ENST00000566332.1 + 4 605 c.545C>T c.(544-546)cCt>cTt p.P182L HYKK_ENST00000408962.2_Missense_Mutation_p.P182L|HYKK_ENST00000388988.4_Missense_Mutation_p.P182L|HYKK_ENST00000569878.1_Missense_Mutation_p.P182L|HYKK_ENST00000563233.1_Missense_Mutation_p.P182L hydroxylysine kinase AAAAATGTTCCTCTTCTGGAG 0.403000 46 58 0 0 0.870114 0 0 OR5T2 219464 broad.mit.edu 37 11 56000318 56000318 + Missense_Mutation SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:56000318A>C ENST00000313264.4 - 1 419 c.344T>G c.(343-345)gTt>gGt p.V115G NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TGGGGTAATAACTGAGGAATA 0.388000 23 14 0 0 0.667858 0 0 PTPRK 5796 broad.mit.edu 37 6 128505788 128505788 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:128505788G>A ENST00000368227.3 - 7 1317 c.951C>T c.(949-951)atC>atT p.I317I PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Silent_p.I317I|PTPRK_ENST00000532331.1_Silent_p.I317I|PTPRK_ENST00000368215.3_Silent_p.I317I|PTPRK_ENST00000368226.4_Silent_p.I317I|PTPRK_ENST00000368210.3_Silent_p.I317I|PTPRK_ENST00000368207.3_Silent_p.I317I Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 317 Fibronectin type-III 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CATCGCCAATGATCGAGTTGG 0.463000 36 70 0 0 0.769981 0 0 FOXD4 2298 broad.mit.edu 37 9 116808 116808 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:116808G>A ENST00000382500.2 - 1 1609 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 438 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTCTAGGAGGGCCCTGCGGAC 0.657000 5 12 0 0 0.184627 0 0 CDH13 1012 broad.mit.edu 37 16 83636115 83636115 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:83636115G>A ENST00000566620.1 + 8 1307 c.1017G>A c.(1015-1017)ctG>ctA p.L339L CDH13_ENST00000428848.3_Silent_p.L300L|CDH13_ENST00000268613.10_Silent_p.L386L NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 339 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGGCTGGACTGGATGTTGGAT 0.423000 11 183 0 0 0.435327 0 0 SPICE1 152185 broad.mit.edu 37 3 113212090 113212090 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:113212090G>A ENST00000295872.4 - 6 714 c.455C>T c.(454-456)aCc>aTc p.T152I NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 152 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 GATAGATTGGGTGATAGGGTC 0.413000 18 41 0 0 0.654019 0 0 ISY1-RAB43 100534599 broad.mit.edu 37 3 128813986 128813986 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:128813986C>T ENST00000418265.1 - 12 938 c.878G>A c.(877-879)aGg>aAg p.R293K RAB43_ENST00000393307.1_Silent_p.Q77Q|RAB43_ENST00000393308.1_Silent_p.Q77Q|RAB43_ENST00000315150.5_Silent_p.Q77Q|RAB43_ENST00000393304.1_Silent_p.Q77Q|RAB43_ENST00000393305.1_Silent_p.Q77Q|RAB43_ENST00000476465.1_Silent_p.Q77Q NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 0 catalytic step 2 spliceosome GGAACCGCTCCTGGCCGGCCG 0.592000 14 28 0 0 0.608945 0 0 C1orf173 127254 broad.mit.edu 37 1 75037994 75037994 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:75037994C>T ENST00000326665.5 - 14 3618 c.3400G>A c.(3400-3402)Gct>Act p.A1134T C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1134 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AACTCAGAAGCCTCCACAGGT 0.468000 12 9 0 0 0.457914 0 0 KCNH5 27133 broad.mit.edu 37 14 63453898 63453898 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:63453898C>T ENST00000322893.7 - 5 709 c.441G>A c.(439-441)acG>acA p.T147T KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394964.2_Silent_p.T89T NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 147 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GGGCAAATTTCGTCCAACCTT 0.388000 28 11 0 0 0.717897 0 0 ATP2B2 491 broad.mit.edu 37 3 10392084 10392084 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:10392084C>T ENST00000397077.1 - 14 2754 c.2179G>A c.(2179-2181)Gag>Aag p.E727K ATP2B2_ENST00000383800.4_Missense_Mutation_p.E727K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E772K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E758K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E772K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 772 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ACACGCACCTCCCCCTTCTCG 0.587000 19 49 0 0 0.575678 0 0 PHYH 5264 broad.mit.edu 37 10 13325836 13325836 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr10:13325836C>T ENST00000396920.3 - 7 1035 c.631G>A c.(631-633)Gga>Aga p.G211R PHYH_ENST00000396913.2_Missense_Mutation_p.G128R|PHYH_ENST00000263038.4_Missense_Mutation_p.G228R O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 228 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTGTTAACTCCCCCCTAGAAC 0.458000 95 61 0 0 0.870114 0 0 SNX17 9784 broad.mit.edu 37 2 27596815 27596815 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:27596815G>A ENST00000233575.2 + 5 631 c.409G>A c.(409-411)Gat>Aat p.D137N SNX17_ENST00000543024.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.D112N|SNX17_ENST00000542478.1_5'UTR NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 137 Ras-associating. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTAACTTCAGATCAGACTGA 0.557000 34 22 0 0 0.812448 0 0 SAMD9 54809 broad.mit.edu 37 7 92731309 92731309 + Missense_Mutation SNP C C T rs138600971 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:92731309C>T ENST00000379958.2 - 3 4371 c.4102G>A c.(4102-4104)Gaa>Aaa p.E1368K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1368 cytoplasm p.E1368K(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AAAGTATATTCGTTCACTATA 0.348000 36 45 0 0 0.827153 0 0 LYRM4 57128 broad.mit.edu 37 6 5216856 5216856 + Nonsense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:5216856G>A ENST00000330636.4 - 2 407 c.202C>T c.(202-204)Cga>Tga p.R68* LYRM4_ENST00000480566.1_Nonsense_Mutation_p.R68*|LYRM4_ENST00000464010.1_Nonsense_Mutation_p.R68*|LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000500576.2_Nonsense_Mutation_p.R68* NM_020408.4 NP_065141.3 Q9HD34 LYRM4_HUMAN LYR motif containing 4 68 mitochondrion|nucleus endometrium(1) 1 Ovarian(93;0.11) all_hematologic(90;0.0901) CTTACCTGTCGACGAATTACT 0.383000 18 90 0 0 0.654019 0 0 CD177 57126 broad.mit.edu 37 19 43866411 43866411 + RNA SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:43866411G>A ENST00000378009.4 + 0 1414 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TCTCTCACTTGGGGGGTGGGG 0.617000 8 5 0 0 0.335167 0 0 IFFO1 25900 broad.mit.edu 37 12 6665123 6665123 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:6665123C>T ENST00000336604.4 - 1 114 c.73G>A c.(73-75)Gac>Aac p.D25N IFFO1_ENST00000356896.4_Missense_Mutation_p.D25N|IFFO1_ENST00000396840.2_Missense_Mutation_p.D25N NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 25 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 CCCAGTGAGTCCCCCAGTGGC 0.716000 5 4 0 0 0.217242 0 0 LPCAT4 254531 broad.mit.edu 37 15 34656416 34656416 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:34656416G>A ENST00000314891.6 - 4 747 c.570C>T c.(568-570)acC>acT p.T190T NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 190 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 TGCCTCCTGAGGTGGCCCGCC 0.592000 81 107 0 0 0.870114 0 0 RNF207 388591 broad.mit.edu 37 1 6273205 6273205 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:6273205C>T ENST00000377939.4 + 16 1741 c.1614C>T c.(1612-1614)gtC>gtT p.V538V RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 538 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CGCCCTACGTCCGCTCCATTG 0.627000 28 9 0 0 0.760397 0 0 MINK1 50488 broad.mit.edu 37 17 4788861 4788861 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:4788861G>A ENST00000355280.6 + 7 788 c.592G>A c.(592-594)Gag>Aag p.E198K MINK1_ENST00000347992.7_Missense_Mutation_p.E198K|MINK1_ENST00000453408.3_Missense_Mutation_p.E198K NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 198 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GATGGCTCCAGAGGTCATCGC 0.557000 26 63 0 0 0.717897 0 0 DENND4B 9909 broad.mit.edu 37 1 153906074 153906074 + Missense_Mutation SNP G G T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:153906074G>T ENST00000361217.4 - 20 3633 c.3215C>A c.(3214-3216)cCt>cAt p.P1072H NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1072 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCGGGAGGCAGGGGAGTGGCG 0.721000 16 4 1.87028e-06 1.8776e-06 0.608945 1 0 DNAH5 1767 broad.mit.edu 37 5 13862838 13862838 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:13862838C>T ENST00000265104.4 - 29 4719 c.4615G>A c.(4615-4617)Gtg>Atg p.V1539M CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1539 Stem (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) CTCTCTTTCACCGCACTGATA 0.428000 Kartagener syndrome 55 29 0 0 0.870114 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552409 1552409 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:1552409C>T ENST00000381605.4 - 3 772 c.708G>A c.(706-708)ggG>ggA p.G236G SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 236 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GAAGAGGGTCCCCCTGCAAGG 0.612000 22 88 0 0 0.667858 0 0 CD163 9332 broad.mit.edu 37 12 7639227 7639227 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:7639227C>T ENST00000359156.4 - 10 2528 c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K CD163_ENST00000396620.3_Missense_Mutation_p.E809K|CD163_ENST00000541972.1_Missense_Mutation_p.E764K|CD163_ENST00000432237.2_Missense_Mutation_p.E776K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 776 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCTGTTCCTTCCCCAAAATGA 0.537000 10 244 0 0 0.457914 0 0 EPHA1 2041 broad.mit.edu 37 7 143095045 143095045 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:143095045G>A ENST00000275815.3 - 8 1669 c.1583C>T c.(1582-1584)tCc>tTc p.S528F NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 528 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) ATGATCAGGGGAGAAAGGGCC 0.567000 30 58 0 0 0.796494 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746532 77746532 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:77746532C>T ENST00000409088.3 - 3 877 c.463G>A c.(463-465)Ggc>Agc p.G155S LRRTM4_ENST00000409884.1_Missense_Mutation_p.G155S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G156S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G156S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G155S NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 155 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TTCCGAAGGCCTTTAAATTGT 0.383000 30 18 0 0 0.717897 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140797886 140797886 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:140797886C>T ENST00000398594.2 + 1 460 c.460C>T c.(460-462)Ctt>Ttt p.L154F PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGAACAATTCTTGAGTCTGC 0.418000 13 5 0 0 0.479597 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144061036 144061036 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:144061036C>T ENST00000056217.5 + 2 1448 c.1274C>T c.(1273-1275)gCc>gTc p.A425V NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 425 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TTTCCAGGTGCCTCATATCTC 0.582000 21 27 0 0 0.624587 0 0 TRRAP 8295 broad.mit.edu 37 7 98573802 98573802 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:98573802C>T ENST00000359863.4 + 53 8058 c.7849C>T c.(7849-7851)Ctg>Ttg p.L2617L TRRAP_ENST00000355540.3_Silent_p.L2599L|TRRAP_ENST00000446306.3_Silent_p.L2599L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2617 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTTCGTTCAGCTGTGCCACAT 0.562000 25 41 0 0 0.654019 0 0 LGSN 51557 broad.mit.edu 37 6 63990433 63990433 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:63990433C>T ENST00000370658.5 - 5 635 c.602G>A c.(601-603)gGa>gAa p.G201E LGSN_ENST00000370657.4_Silent_p.G341G NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 0 glutamine biosynthetic process glutamate-ammonia ligase activity p.G341G(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACCATTTTTTCCCAGTGATCG 0.488000 13 32 0 0 0.557998 0 0 IL1A 3552 broad.mit.edu 37 2 113541312 113541312 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:113541312C>T ENST00000263339.3 - 2 191 c.36G>A c.(34-36)aaG>aaA p.K12K NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 12 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 TGTAACAGTTCTTCAGGTCTT 0.463000 15 70 0 0 0.557998 0 0 JARID2 3720 broad.mit.edu 37 6 15496653 15496653 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:15496653C>T ENST00000341776.2 + 7 1441 c.1197C>T c.(1195-1197)tcC>tcT p.S399S JARID2_ENST00000541660.1_Silent_p.S361S|JARID2_ENST00000397311.3_Silent_p.S227S NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 399 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) CGTCCAAGTCCACTGGGCCCG 0.602000 58 79 0 0 0.870114 0 0 FAM47B 170062 broad.mit.edu 37 X 34961323 34961323 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:34961323G>A ENST00000329357.5 + 1 411 c.375G>A c.(373-375)ctG>ctA p.L125L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 125 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 AAGCCCAGCTGATGACCAAGC 0.542000 6 48 0 0 0.278610 0 0 EPB41L1 2036 broad.mit.edu 37 20 34802352 34802352 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr20:34802352C>T ENST00000338074.2 + 17 2419 c.2258C>T c.(2257-2259)tCg>tTg p.S753L EPB41L1_ENST00000373950.2_Missense_Mutation_p.S644L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.S573L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.S752L|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000441639.1_Intron NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 753 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GAGACCATATCGACCACCATG 0.572000 8 21 0 0 0.335167 0 0 SPANXD 64648 broad.mit.edu 37 X 140785720 140785720 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:140785720C>T ENST00000370515.3 - 2 529 c.196G>A c.(196-198)Gaa>Aaa p.E66K NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TTCACCAGTTCCTCTGGAGAT 0.458000 5 118 0 0 0.184627 0 0 CLCN6 1185 broad.mit.edu 37 1 11884570 11884570 + Missense_Mutation SNP T T C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:11884570T>C ENST00000346436.6 + 8 660 c.608T>C c.(607-609)aTg>aCg p.M203T CLCN6_ENST00000312413.6_Missense_Mutation_p.M203T|CLCN6_ENST00000376487.3_Missense_Mutation_p.M181T|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.M203T NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 203 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAAGGCCCCATGATCCACAGT 0.597000 14 16 0 0 0.557998 0 0 BAGE2 85319 broad.mit.edu 37 21 11039227 11039227 + RNA SNP G G A rs147532624 by1000genomes TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:11039227G>A ENST00000470054.1 - 0 976 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTCTTCTTTGGATACCACTG 0.413000 7 98 0 0 0.248553 0 0 ADD1 118 broad.mit.edu 37 4 2927835 2927835 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr4:2927835G>A ENST00000355842.3 + 16 2813 c.1950G>A c.(1948-1950)gaG>gaA p.E650E ADD1_ENST00000446856.1_Silent_p.E619E|ADD1_ENST00000264758.7_Silent_p.E650E|ADD1_ENST00000398125.1_Silent_p.E650E|ADD1_ENST00000398129.1_Silent_p.E619E|ADD1_ENST00000503455.2_Silent_p.E650E|ADD1_ENST00000398123.2_Silent_p.E650E|ADD1_ENST00000513328.2_Silent_p.E619E P35611 ADDA_HUMAN adducin 1 (alpha) 619 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCAAGCTGGAGGAAGGTGAGC 0.632000 26 5 0 0 0.760397 0 0 NOP58 51602 broad.mit.edu 37 2 203160481 203160481 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:203160481C>T ENST00000264279.5 + 10 1218 c.992C>T c.(991-993)tCt>tTt p.S331F NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 331 Nop. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 GCCCTCAAATCTAGACGGGAT 0.428000 36 30 0 0 0.812448 0 0 ZNF208 7757 broad.mit.edu 37 19 22156453 22156453 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:22156453G>A ENST00000397126.4 - 4 1531 c.1383C>T c.(1381-1383)ggC>ggT p.G461G 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) ACATACTAAAGCCTTTGCCAC 0.383000 3 39 0 0 0.115264 0 0 SMOC2 64094 broad.mit.edu 37 6 168927078 168927078 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:168927078G>A ENST00000354536.5 + 3 529 c.309G>A c.(307-309)aaG>aaA p.K103K SMOC2_ENST00000356284.2_Silent_p.K103K NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 103 Thyroglobulin type-1 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) AAGCCCGGAAGGAGTTTCAGC 0.542000 20 36 0 0 0.693898 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368801 86368801 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr13:86368801G>A ENST00000400286.2 - 2 2441 c.1843C>T c.(1843-1845)Ctg>Ttg p.L615L NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 615 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AACATAATCAGAAGTCCCAAT 0.413000 44 23 0 0 0.870114 0 0 SYNE3 161176 broad.mit.edu 37 14 95932475 95932475 + Silent SNP G G A rs147089377 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:95932475G>A ENST00000334258.5 - 3 434 c.420C>T c.(418-420)atC>atT p.I140I SYNE3_ENST00000553340.1_Silent_p.I140I|SYNE3_ENST00000557275.1_Silent_p.I140I NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GCTGGAGCTCGATGTGGGGCT 0.632000 36 20 0 0 0.827153 0 0 TMEM38B 55151 broad.mit.edu 37 9 108467982 108467982 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr9:108467982C>T ENST00000374688.1 + 2 765 c.55C>T c.(55-57)Cca>Tca p.P19S TMEM38B_ENST00000374692.3_Missense_Mutation_p.P73S Q9NVV0 TM38B_HUMAN transmembrane protein 38B 73 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 TGCAGAGCCTCCATTGAAGTT 0.418000 45 19 0 0 0.870114 0 0 HMGB4 127540 broad.mit.edu 37 1 34330332 34330332 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:34330332G>A ENST00000522796.1 + 4 2445 c.540G>A c.(538-540)ggG>ggA p.G180G CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.G180G B2R4X7 B2R4X7_HUMAN high mobility group box 4 180 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGTGCAGAGGGAAAAGAGTCA 0.453000 13 20 0 0 0.539581 0 0 CADPS 8618 broad.mit.edu 37 3 62423879 62423879 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:62423879C>T ENST00000383710.4 - 28 4026 c.3677G>A c.(3676-3678)gGg>gAg p.G1226E CADPS_ENST00000283269.9_Missense_Mutation_p.G1187E|CADPS_ENST00000357948.3_Missense_Mutation_p.G1147E NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1226 Mediates targeting and association with DCVs (By similarity). 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) CACGTCCATCCCGGGTTTCTG 0.458000 15 25 0 0 0.479597 0 0 ZNF148 7707 broad.mit.edu 37 3 124951262 124951262 + Missense_Mutation SNP G G A rs137930153 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr3:124951262G>A ENST00000360647.4 - 9 2793 c.2308C>T c.(2308-2310)Ccc>Tcc p.P770S SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.P770S|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Missense_Mutation_p.P770S|ZNF148_ENST00000468369.1_Missense_Mutation_p.P120S|ZNF148_ENST00000544464.1_Missense_Mutation_p.P107S|ZNF148_ENST00000485866.1_Missense_Mutation_p.P770S NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 770 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding p.P770S(1) breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TTCACCAAGGGAAATTCTGAA 0.408000 18 34 0 0 0.608945 0 0 OR1E1 8387 broad.mit.edu 37 17 3301698 3301698 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:3301698C>T ENST00000322608.2 - 1 6 c.7G>A c.(7-9)Gga>Aga p.G3R NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 TGATTTTGTCCCATCATGCTC 0.433000 27 36 0 0 0.840704 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 109 0 0 0.217242 0 0 HTRA4 203100 broad.mit.edu 37 8 38831791 38831791 + Missense_Mutation SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:38831791A>C ENST00000302495.4 + 1 109 c.9A>C c.(7-9)agA>agC p.R3S NM_153692.3 NP_710159.1 P83105 HTRA4_HUMAN HtrA serine peptidase 4 3 proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 11 all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GGATGATTAGACCTCAGCTGC 0.617000 13 29 0 0 0.500413 0 0 MAP2K1 5604 broad.mit.edu 37 15 66727441 66727441 + Missense_Mutation SNP T T A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:66727441T>A ENST00000307102.5 + 2 688 c.157T>A c.(157-159)Ttt>Att p.F53I NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 53 F -> S (in CFC syndrome). activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F53L(2)|p.F53S(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 CCTTGAGGCCTTTCTTACCCA 0.547000 40 94 0 0 0.847076 0 0 CLSTN3 9746 broad.mit.edu 37 12 7289520 7289520 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:7289520C>T ENST00000537408.1 + 6 1598 c.1060C>T c.(1060-1062)Ctg>Ttg p.L354L CLSTN3_ENST00000266546.6_Silent_p.L342L Q9BQT9 CSTN3_HUMAN calsyntenin 3 342 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GGACAGCAGCCTGATCTACTG 0.642000 49 57 0 0 0.870114 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809753 18809753 + Missense_Mutation SNP C C A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr1:18809753C>A ENST00000400664.1 + 1 2330 c.2278C>A c.(2278-2280)Ctc>Atc p.L760I NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 760 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCAGGGCACCCTCCTGCCCAC 0.657000 19 56 2.27525e-19 2.30519e-19 0.667858 1 0 AMHR2 269 broad.mit.edu 37 12 53823694 53823694 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:53823694G>A ENST00000257863.4 + 9 1300 c.1220G>A c.(1219-1221)cGa>cAa p.R407Q AMHR2_ENST00000550311.1_Missense_Mutation_p.R407Q|AMHR2_ENST00000379791.3_Intron NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 407 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) GCCCTCCGACGAGCTGATATT 0.582000 25 31 0 0 0.681144 0 0 LAMB1 3912 broad.mit.edu 37 7 107601669 107601669 + Silent SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:107601669G>A ENST00000393561.1 - 15 2347 c.2163C>T c.(2161-2163)ccC>ccT p.P721P LAMB1_ENST00000393560.1_Silent_p.P697P|LAMB1_ENST00000222399.6_Silent_p.P697P P07942 LAMB1_HUMAN laminin, beta 1 697 Laminin IV type B. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAGCGTGTAGGGGCTCTCCA 0.557000 45 59 0 0 0.870114 0 0 DNAH7 56171 broad.mit.edu 37 2 196753694 196753694 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:196753694C>T ENST00000312428.6 - 32 5158 c.5058G>A c.(5056-5058)agG>agA p.R1686R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1686 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTAACCATTTCCTATCTGGAG 0.348000 25 92 0 0 0.796494 0 0 CNTN1 1272 broad.mit.edu 37 12 41421717 41421717 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:41421717C>T ENST00000551295.2 + 22 2886 c.2769C>T c.(2767-2769)atC>atT p.I923I CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.I923I|CNTN1_ENST00000348761.2_Silent_p.I912I NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 923 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCTATATAATCACCTGGGATC 0.388000 20 69 0 0 0.706142 0 0 THSD4 79875 broad.mit.edu 37 15 71447238 71447238 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:71447238C>T ENST00000355327.3 + 3 200 c.66C>T c.(64-66)ttC>ttT p.F22F THSD4_ENST00000261862.6_Silent_p.F22F|RP11-673C5.2_ENST00000561571.1_RNA Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 22 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GATTCCAGTTCGTCTGCCCAC 0.552000 49 54 0 0 0.870114 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885224 24885224 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:24885224C>T ENST00000382554.3 + 9 4587 c.4269C>T c.(4267-4269)tcC>tcT p.S1423S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1423 DNA integration integral to membrane DNA binding p.S1423S(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCCTCTCATCCCTTCCGTTTA 0.617000 35 18 0 0 0.847076 0 0 MUC16 94025 broad.mit.edu 37 19 9064403 9064403 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:9064403C>T ENST00000397910.4 - 3 23246 c.23043G>A c.(23041-23043)gtG>gtA p.V7681V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7683 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTTTCTTTCACAAAGGGAG 0.547000 8 35 0 0 0.335167 0 0 BTBD2 55643 broad.mit.edu 37 19 1986899 1986899 + Missense_Mutation SNP A A C TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr19:1986899A>C ENST00000255608.4 - 8 1362 c.1346T>G c.(1345-1347)tTc>tGc p.F449C NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 449 cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATGACGCGGAAGGTGCTGGC 0.642000 5 48 0 0 0.184627 0 0 ARSK 153642 broad.mit.edu 37 5 94927309 94927309 + Missense_Mutation SNP A A G TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:94927309A>G ENST00000380009.4 + 6 1281 c.1076A>G c.(1075-1077)gAt>gGt p.D359G NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 359 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TCTCTTGTGGATATTTACCCT 0.393000 59 18 0 0 0.870114 0 0 OR11H12 440153 broad.mit.edu 37 14 19378555 19378555 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr14:19378555G>A ENST00000550708.1 + 1 1034 c.962G>A c.(961-963)gGa>gAa p.G321E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAAGTTCTGGGAAGTTCCAAC 0.363000 59 30 0 0 0.870114 0 0 FLNC 2318 broad.mit.edu 37 7 128480673 128480673 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:128480673G>A ENST00000325888.8 + 10 1882 c.1621G>A c.(1621-1623)Gtg>Atg p.V541M FLNC_ENST00000346177.6_Missense_Mutation_p.V541M NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 541 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 CTACCCGGTGGTGCCTGGGAA 0.632000 127 180 0 0 0.870114 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47221207 47221207 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr6:47221207C>T ENST00000296861.2 - 4 1687 c.1294G>A c.(1294-1296)Gat>Aat p.D432N NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 432 Death. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) TGATAGATATCTTTCCACTGG 0.488000 8 12 0 0 0.307466 0 0 OR10G4 390264 broad.mit.edu 37 11 123886941 123886941 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:123886941C>T ENST00000320891.4 + 1 660 c.660C>T c.(658-660)atC>atT p.I220I NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I220I(2) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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;0.0401) ATGTGTCCATCGTCTGTTCCA 0.542000 48 14 0 0 0.870114 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99448879 99448879 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:99448879C>T ENST00000397899.2 - 5 803 c.472G>A c.(472-474)Gac>Aac p.D158N KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like GGCAGCCCGTCGTCCTCAGAG 0.587000 17 37 0 0 0.608945 0 0 VWA3A 146177 broad.mit.edu 37 16 22149750 22149750 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:22149750G>A ENST00000389398.5 + 22 2305 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 737 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CCTCCCGAAAGAAAAACCAAA 0.567000 4 3 0 0 0.217242 0 0 SEPT7P2 641977 broad.mit.edu 37 7 45791226 45791226 + RNA SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:45791226C>T ENST00000429741.1 - 0 634 TTTGTAAACTCAATATCCAAT 0.343000 3 5 0 0 0.150653 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110493695 110493695 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:110493695C>T ENST00000378402.5 + 56 9465 c.9361C>T c.(9361-9363)Cct>Tct p.P3121S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3121 G8 2. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAAGATAACCCTTTTAAAGG 0.378000 HNSCC(38;0.096) 3 7 0 0 0.217242 0 0 POU5F2 134187 broad.mit.edu 37 5 93076865 93076865 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr5:93076865C>T ENST00000510627.4 - 1 478 c.405G>A c.(403-405)caG>caA p.Q135Q FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 135 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) TCAACCTCTTCTGCCTCAACT 0.592000 27 18 0 0 0.760397 0 0 DNAH17 8632 broad.mit.edu 37 17 76503747 76503747 + Silent SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr17:76503747C>T ENST00000389840.5 - 28 4489 c.4365G>A c.(4363-4365)ctG>ctA p.L1455L DNAH17_ENST00000585328.1_Silent_p.L1456L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGGACATCATCAGGTTCTGCA 0.607000 6 27 0 0 0.335167 0 0 TPTE 7179 broad.mit.edu 37 21 10916373 10916373 + Missense_Mutation SNP G G A rs138794341 byFrequency TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr21:10916373G>A ENST00000298232.7 - 19 1586 c.1219C>T c.(1219-1221)Cct>Tct p.P407S TPTE_ENST00000361285.4_Missense_Mutation_p.P425S|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.P387S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 425 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACTTACGAGGAATCGAATAA 0.388000 15 49 0 0 0.557998 0 0 LRP1B 53353 broad.mit.edu 37 2 140995831 140995831 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:140995831C>T ENST00000389484.3 - 89 14421 c.13450G>A c.(13450-13452)Gga>Aga p.G4484R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4484 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) TTTATTCCTCCATTGATAATA 0.303000 TSP Lung(27;0.18) 6 18 0 0 0.217242 0 0 METTL8 79828 broad.mit.edu 37 2 172195817 172195846 + In_Frame_Del DEL ACCAGAACTTTTCTCATAATGATTTTTTTC ACCAGAACTTTTCTCATAATGATTTTTTTC - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr2:172195817_172195846delACCAGAACTTTTCTCATAATGATTTTTTTC ENST00000375258.3 - 4 669_698 c.454_483delGAAAAAAATCATTATGAGAAAAGTTCTGGT c.(454-483)del p.EKNHYEKSSG152del B3KW44 B3KW44_HUMAN methyltransferase like 8 152 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 CTTCTGAAGAACCAGAACTTTTCTCATAATGATTTTTTTCATCAGGCACA 0.383 16 62 --- --- --- --- PKD1L1 168507 broad.mit.edu 37 7 47832245 47832245 + Frame_Shift_Del DEL A A - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr7:47832245delA ENST00000289672.2 - 56 8556 c.8506delT c.(8506-8508)ctfs p.S2837fs NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2837 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 TGGTAACTAGAAATGTCCACT 0.393 94 128 --- --- --- --- ADAM2 2515 broad.mit.edu 37 8 39604019 39604020 + Frame_Shift_Ins INS - - T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:39604019_39604020insT ENST00000265708.4 - 19 2248_2249 c.2145_2146insA c.(2143-2148)aaggagfs p.E716fs ADAM2_ENST00000521880.1_Frame_Shift_Ins_p.E653fs|ADAM2_ENST00000379853.2_Frame_Shift_Ins_p.E560fs|ADAM2_ENST00000347580.4_Frame_Shift_Ins_p.E697fs NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 716 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCAGTTCTCCATTTTTTCCTTT 0.292 40 59 --- --- --- --- CYP7B1 9420 broad.mit.edu 37 8 65509352 65509352 + Frame_Shift_Del DEL A A - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr8:65509352delA ENST00000310193.3 - 6 1541 c.1368delT c.(1366-1368)ctfs p.L456fs CYP7B1_ENST00000523954.1_Intron NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 456 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TTATTTCCATAAGTGCAAAAA 0.353 21 25 --- --- --- --- LOC283299 283299 broad.mit.edu 37 11 7802564 7802564 + RNA DEL C C - rs112070392 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr11:7802564delC ENST00000527565.1 - 0 542 cagcacagcacaactgctcta 0.537 2 4 --- --- --- --- PTPRB 5787 broad.mit.edu 37 12 70953109 70953109 + Frame_Shift_Del DEL A A - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:70953109delA ENST00000551525.1 - 18 4749 c.4725delT c.(4723-4725)ttfs p.F1575fs PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Intron P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 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) TAAGAGTAGCAAAACATGTCA 0.373 46 91 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88449444 88449444 + Frame_Shift_Del DEL T T - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr12:88449444delT ENST00000552810.1 - 50 7212 c.6869delA c.(6868-6870)atfs p.N2290fs CEP290_ENST00000547691.2_Frame_Shift_Del_p.N1350fs|CEP290_ENST00000309041.7_Frame_Shift_Del_p.N2292fs|CEP290_ENST00000397838.3_Frame_Shift_Del_p.N1350fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 2290 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 AATGCTTTGATTTTTTTTGGC 0.299 3 5 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755164 45755166 + RNA DEL CAC CAC - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:45755164_45755166delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA ccatcaccatcaccaccaccacc 0.596 2 4 --- --- --- --- ZNF280D 54816 broad.mit.edu 37 15 56993114 56993114 + Frame_Shift_Del DEL G G - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr15:56993114delG ENST00000558320.1 - 6 512 c.398delC c.(397-399)atfs p.T133fs ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000559237.1_Intron|ZNF280D_ENST00000267807.7_Intron|ZNF280D_ENST00000559000.1_Intron NM_001002844.1 NP_001002844.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) TGGCCGTATAGTTTTAGAAAC 0.393 10 43 --- --- --- --- LOC100134368 100134368 broad.mit.edu 37 16 437288 437289 + RNA DEL AA AA - rs137908843 TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:437288_437289delAA ENST00000412293.1 + 0 521 NR_024453.2 ttgtcaccataaaaaaaaaaat 0.426 2 4 --- --- --- --- IL27 246778 broad.mit.edu 37 16 28511176 28511178 + In_Frame_Del DEL CTC CTC - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr16:28511176_28511178delCTC ENST00000356897.1 - 5 548_550 c.526_528delGAG c.(526-528)del p.E176del NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 176 Glu-rich. inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 GCCCCTtcctctcctcctcctcc 0.685 2 4 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45555705 45555705 + Frame_Shift_Del DEL C C - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chr18:45555705delC ENST00000588982.1 - 4 2287 c.1786delG c.(1786-1788)ccfs p.A597fs ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.A597fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.A597fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.A597fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.A597fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 597 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 AGGCCGGCGGCCCAAGGGTCG 0.736 2 4 --- --- --- --- VSIG1 340547 broad.mit.edu 37 X 107315930 107315930 + Frame_Shift_Del DEL A A - TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60b65a17-69a7-4dd5-937c-8e047bb1cf93 0e31ab41-4ba6-48e1-9f2f-ee3f13ebcb19 g.chrX:107315930delA ENST00000415430.3 + 5 705 c.544delA c.(544-546)gcfs p.S182fs VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Frame_Shift_Del_p.S146fs NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 146 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 GCCCCTTTGTAGCGTTCAAGG 0.443 39 56 --- --- --- ---