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 ZNF775 285971 broad.mit.edu 37 7 150094431 150094431 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:150094431A>C ENST00000329630.5 + 3 969 c.862A>C c.(862-864)Aag>Cag p.K288Q NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K288Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGTGTGGCAAGAGCTTCAC 0.721000 3 26 0 0 0.004672 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111242 7111242 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7111242G>T ENST00000306904.5 + 1 1078 c.891G>T c.(889-891)ggG>ggT p.G297G NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 297 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding p.G297V(1) 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) CAGGACGGGGGACACCGCCAT 0.657000 12 9 2.27111e-07 2.77459e-07 0.093190 1 0 MTMR8 55613 broad.mit.edu 37 X 63490885 63490885 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:63490885A>T ENST00000374852.3 - 13 1617 c.1550T>A c.(1549-1551)cTc>cAc p.L517H MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 517 nuclear envelope protein tyrosine phosphatase activity p.0?(2)|p.L517H(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 AATTTCCAGGAGGCTCTCTAG 0.468000 9 44 0 0 0.069234 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28306969 28306969 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:28306969C>A ENST00000284987.5 - 4 1626 c.1505G>T c.(1504-1506)gGg>gTg p.G502V AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 502 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.G502V(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GTACTCAGGCCCGAATGTCAG 0.592000 4 22 0.00909568 0.00957045 0.009096 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906717 164906717 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:164906717C>A ENST00000475390.1 - 2 2345 c.1902G>T c.(1900-1902)ggG>ggT p.G634G SLITRK3_ENST00000241274.3_Silent_p.G634G O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 634 integral to membrane p.G634G(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGGTTGGTGCCCCAATAAGGT 0.527000 HNSCC(40;0.11) 6 12 0.00116845 0.00126595 0.021553 1 0 IQCF2 389123 broad.mit.edu 37 3 51897343 51897343 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:51897343C>T ENST00000333127.3 + 3 481 c.452C>T c.(451-453)aCa>aTa p.T151I IQCF2_ENST00000429548.1_3'UTR NM_203424.1 NP_982248.1 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 151 p.T151I(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGTGTGGTCACAGCCACTCAC 0.547000 30 85 0 0 0.064281 0 0 CHD4 1108 broad.mit.edu 37 12 6702648 6702648 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:6702648G>C ENST00000309577.6 - 16 2611 c.2448C>G c.(2446-2448)atC>atG p.I816M CHD4_ENST00000357008.2_Missense_Mutation_p.I816M|CHD4_ENST00000544040.1_Missense_Mutation_p.I809M|CHD4_ENST00000544484.1_Missense_Mutation_p.I813M Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 816 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.I816M(2) central_nervous_system(2) 2 CATTCTCTCGGATGATGGCAC 0.517000 43 70 0 0 0.111260 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64672544 64672544 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:64672544C>T ENST00000498707.1 - 2 558 c.216G>A c.(214-216)acG>acA p.T72T ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.T72T|ADAMTS9_ENST00000459780.1_Silent_p.T72T|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9-AS2_ENST00000485174.1_RNA NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 72 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T72T(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCTCCGTCGCGTTCTTTTGA 0.557000 10 23 0 0 0.069234 0 0 GABRA3 2556 broad.mit.edu 37 X 151514097 151514097 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:151514097C>T ENST00000370314.4 - 3 456 c.218G>A c.(217-219)cGt>cAt p.R73H GABRA3_ENST00000535043.1_Missense_Mutation_p.R73H|GABRA3_ENST00000370311.1_Missense_Mutation_p.R73H NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 73 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding p.R73H(2) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTCCAGAAGACGATCCAAGAT 0.473000 22 98 0 0 0.062417 0 0 LOC643711 643711 broad.mit.edu 37 12 98126390 98126390 + RNA SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:98126390G>T ENST00000550548.1 - 0 380 NR_077240.1 CTCTCCTTGGGTGTTCCTCCA 0.488000 7 4 0.0381472 0.0394875 0.038147 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77317892 77317892 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:77317892G>T ENST00000282849.5 - 23 4045 c.3627C>A c.(3625-3627)taC>taA p.Y1209* RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1209 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Y1209*(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATTGTTTTCCGTAAAACTTGT 0.458000 21 76 6.44725e-10 8.52953e-10 0.069288 1 0 TRO 7216 broad.mit.edu 37 X 54950180 54950180 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:54950180C>A ENST00000173898.7 + 3 1327 c.1215C>A c.(1213-1215)acC>acA p.T405T TRO_ENST00000484031.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Silent_p.T405T|TRO_ENST00000319167.8_Silent_p.T405T|TRO_ENST00000399736.1_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 405 embryo implantation|homophilic cell adhesion integral to plasma membrane p.T405T(2) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CAACCAGGACCCGGGGCAAAA 0.493000 6 11 0.00116845 0.00126595 0.021553 1 0 SSX6 280657 broad.mit.edu 37 X 47969414 47969414 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:47969414A>T ENST00000376932.2 + 2 125 c.51A>T c.(49-51)gcA>gcT p.A17A SSX6_ENST00000319275.3_5'UTR p.A17A(1) large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 ATGCTAAAGCATCAGAGAAGA 0.567000 41 55 0 0 0.039052 0 0 CEP192 55125 broad.mit.edu 37 18 13030600 13030600 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:13030600A>T ENST00000506447.1 + 11 1607 c.1527A>T c.(1525-1527)agA>agT p.R509S CEP192_ENST00000325971.8_Missense_Mutation_p.D5V|CEP192_ENST00000430049.2_Missense_Mutation_p.R104S NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 104 p.R509S(1)|p.D5V(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAGACTTCAGATCTGGTTGTA 0.343000 11 93 0 0 0.093190 0 0 CDK20 23552 broad.mit.edu 37 9 90588866 90588866 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:90588866C>A ENST00000375883.3 - 2 466 c.160G>T c.(160-162)Gct>Tct p.A54S CDK20_ENST00000605159.1_Missense_Mutation_p.A54S|CDK20_ENST00000336654.5_Missense_Mutation_p.A67S|CDK20_ENST00000375871.4_Missense_Mutation_p.A54S|CDK20_ENST00000325303.8_Missense_Mutation_p.A54S NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 54 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity p.A67S(1)|p.A54S(1) skin(1) 1 TCCTGCAGAGCCTTAATCTCC 0.562000 150 46 1.3337e-71 2.7243e-71 0.048971 1 0 CPSF7 79869 broad.mit.edu 37 11 61183865 61183865 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:61183865T>C ENST00000340437.4 - 6 886 c.806A>G c.(805-807)aAt>aGt p.N269S CPSF7_ENST00000394888.4_Missense_Mutation_p.N226S|CPSF7_ENST00000448745.1_Missense_Mutation_p.N217S|CPSF7_ENST00000439958.3_Missense_Mutation_p.N217S NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 226 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding p.N226S(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGGAGGACGATTGAAGTAGGG 0.592000 46 68 0 0 0.048971 0 0 MORC1 27136 broad.mit.edu 37 3 108698419 108698419 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:108698419G>T ENST00000232603.5 - 24 2502 c.2420C>A c.(2419-2421)gCg>gAg p.A807E MORC1_ENST00000483760.1_Missense_Mutation_p.A786E NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 807 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.A807E(1)|p.A807V(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTGAGAAGACGCTGGCGAAGA 0.413000 30 62 3.65163e-15 5.3999e-15 0.030593 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686305 125686305 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:125686305G>C ENST00000371126.1 - 1 529 c.287C>G c.(286-288)aCg>aGg p.T96R NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 96 p.T96R(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTTGTTGACCGTGCCCAGCTC 0.657000 22 58 0 0 0.069288 0 0 CES3 23491 broad.mit.edu 37 16 66998348 66998348 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:66998348G>A ENST00000303334.4 + 5 720 c.649G>A c.(649-651)Ggg>Agg p.G217R CES3_ENST00000394037.1_Missense_Mutation_p.G217R NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 217 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.G217R(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) CGCCCCCTTCGGGGGTGACCT 0.582000 6 24 0 0 0.021553 0 0 ATP2B3 492 broad.mit.edu 37 X 152825205 152825205 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:152825205G>T ENST00000370186.1 + 16 2928 c.2602G>T c.(2602-2604)Gtg>Ttg p.V868L ATP2B3_ENST00000349466.2_Missense_Mutation_p.V882L|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V882L|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V868L|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V882L|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V868L|ATP2B3_ENST00000460549.1_3'UTR Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 882 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.V882L(3)|p.V868L(1) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCAAAGCCGTGCAGATGTT 0.617000 20 44 1.01871e-10 1.38357e-10 0.049695 1 0 CSMD3 114788 broad.mit.edu 37 8 113694845 113694845 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:113694845G>T ENST00000297405.5 - 16 2747 c.2503C>A c.(2503-2505)Cct>Act p.P835T CSMD3_ENST00000352409.3_Missense_Mutation_p.P835T|CSMD3_ENST00000343508.3_Missense_Mutation_p.P795T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P731T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 835 Sushi 4. integral to membrane|plasma membrane p.P835T(1)|p.P795T(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCAGGATCAGGGCATTCATTA 0.348000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 91 65 3.17287e-45 6.18428e-45 0.048971 1 0 ACSM2B 348158 broad.mit.edu 37 16 20563612 20563612 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:20563612C>A ENST00000329697.6 - 6 916 c.748G>T c.(748-750)Ggc>Tgc p.G250C ACSM2B_ENST00000565232.1_Missense_Mutation_p.G250C|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G171C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G250C NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 250 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.G250C(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GCTTGCAGGCCTGTCCAACTG 0.473000 48 122 4.45325e-31 8.16075e-31 0.048971 1 0 DOCK2 1794 broad.mit.edu 37 5 169469016 169469016 + Splice_Site SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:169469016G>A ENST00000256935.8 + 38 3836 c.e38-1 DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000540750.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.?(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTCTTCACAGTGGTCGGATG 0.572000 13 24 0 0 0.020292 0 0 GMPS 8833 broad.mit.edu 37 3 155632279 155632279 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:155632279C>A ENST00000496455.1 + 8 1293 c.958C>A c.(958-960)Cgg>Agg p.R320R GMPS_ENST00000295920.7_Silent_p.R221R NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 320 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity p.R320R(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TAGAACCCCACGGAAAAGAAT 0.358000 T MLL AML 31 68 2.47511e-08 3.10808e-08 0.037714 1 0 ARMCX2 9823 broad.mit.edu 37 X 100911043 100911043 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:100911043G>T ENST00000328766.5 - 5 1985 c.1532C>A c.(1531-1533)gCa>gAa p.A511E ARMCX2_ENST00000356824.4_Missense_Mutation_p.A511E|ARMCX2_ENST00000330154.2_Missense_Mutation_p.A511E NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 511 integral to membrane binding p.A511E(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GAAAAAGTTTGCAATGGAATT 0.368000 118 187 3.08405e-71 6.28294e-71 0.048971 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140762984 140762984 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:140762984G>T ENST00000518325.1 + 1 518 c.518G>T c.(517-519)aGc>aTc p.S173I PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 p.S173I(1) NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACCAGCTCAGCCCCAATCGC 0.567000 8 26 0.00621372 0.00660153 0.058154 1 0 CACNA2D4 93589 broad.mit.edu 37 12 2016649 2016649 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:2016649C>T ENST00000382722.5 - 6 1100 c.738G>A c.(736-738)tgG>tgA p.W246* CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.W182*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.W246*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.W182* NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 246 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.W246*(2) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAAAATATTGCCAGGTCAACG 0.458000 14 11 0 0 0.105934 0 0 LRRN3 54674 broad.mit.edu 37 7 110763692 110763692 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:110763692G>A ENST00000451085.1 + 4 1910 c.864G>A c.(862-864)gaG>gaA p.E288E IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.E288E|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.E288E NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 288 integral to membrane p.E288E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACTTAAAAGAGTTGGGGATAA 0.328000 14 78 0 0 0.028581 0 0 EBP 10682 broad.mit.edu 37 X 48386709 48386709 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:48386709G>A ENST00000495186.1 + 5 1380 c.557G>A c.(556-558)tGg>tAg p.W186* EBP_ENST00000276096.6_3'UTR NM_006579.2 NP_006570.1 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 186 cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity p.W186*(1) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1) 11 CTCTACTTCTGGTTTTACTTT 0.567000 3 23 0 0 0.004672 0 0 SIGLEC6 946 broad.mit.edu 37 19 52031048 52031048 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:52031048C>A ENST00000346477.3 - 6 1161 c.1093G>T c.(1093-1095)Gtg>Ttg p.V365L SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V329L|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V381L NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 381 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus p.V381L(1)|p.V354L(1) endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GTGTTTTGCACTGGCTGGGCT 0.488000 32 160 2.68265e-12 3.77048e-12 0.054565 1 0 UCK2 7371 broad.mit.edu 37 1 165876981 165876981 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:165876981G>T ENST00000367879.4 + 7 1010 c.707G>T c.(706-708)cGg>cTg p.R236L UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 236 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity p.R236L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCCTCCAAACGGCAGACCAAT 0.617000 36 54 9.17885e-22 1.55898e-21 0.059317 1 0 LAIR2 3904 broad.mit.edu 37 19 55014160 55014160 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:55014160T>C ENST00000301202.2 + 1 148 c.26T>C c.(25-27)cTg>cCg p.L9P LAIR2_ENST00000351841.2_Missense_Mutation_p.L9P NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 9 extracellular region receptor activity p.L9P(1) central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) ACTGCTCTCCTGGGCCTAGGT 0.622000 27 62 0 0 0.050027 0 0 CORO6 84940 broad.mit.edu 37 17 27948283 27948283 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:27948283C>G ENST00000345068.5 - 2 370 c.157G>C c.(157-159)Gct>Cct p.A53P CORO6_ENST00000584969.1_Missense_Mutation_p.A53P|CORO6_ENST00000445145.2_Missense_Mutation_p.A53P|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000580212.1_Missense_Mutation_p.A53P|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.A53P Q6QEF8 CORO6_HUMAN coronin 6 53 actin cytoskeleton organization actin cytoskeleton actin filament binding p.A53P(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 CCGCCTCCAGCCTCCACAATA 0.602000 11 38 0 0 0.093190 0 0 CASQ2 845 broad.mit.edu 37 1 116287460 116287460 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:116287460G>T ENST00000261448.5 - 2 547 c.308C>A c.(307-309)gCc>gAc p.A103D CASQ2_ENST00000456138.2_Missense_Mutation_p.A103D NM_001232.3 NP_001223.2 O14958 CASQ2_HUMAN calsequestrin 2 (cardiac muscle) 103 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.A103D(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 18 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CAGTTTCTTGGCAAGCTTGGC 0.403000 20 25 1.55795e-14 2.2688e-14 0.062417 1 0 PABPC3 5042 broad.mit.edu 37 13 25671243 25671243 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:25671243G>A ENST00000281589.3 + 1 944 c.907G>A c.(907-909)Gat>Aat p.D303N NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 303 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.D303N(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAATCTTGATGATGGTATTGA 0.428000 125 173 0 0 0.048971 0 0 FAM71B 153745 broad.mit.edu 37 5 156589909 156589909 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:156589909C>A ENST00000302938.4 - 2 1462 c.1367G>T c.(1366-1368)aGa>aTa p.R456I NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 456 nucleus p.R456I(1) NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCCCCCGCTCTCCTGCGGTG 0.478000 30 132 5.45727e-16 8.27776e-16 0.037714 1 0 ASTN1 460 broad.mit.edu 37 1 176903321 176903321 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:176903321G>A ENST00000367654.2 - 16 2675 c.2662C>T c.(2662-2664)Cga>Tga p.R888* ASTN1_ENST00000367657.3_Nonsense_Mutation_p.R880*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.R880*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.R880* O14525 ASTN1_HUMAN astrotactin 1 888 cell migration|neuron cell-cell adhesion integral to membrane p.R880*(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGCCAGAGTCGCCGCTGGACC 0.502000 5 74 0 0 0.021553 0 0 PCDH9 5101 broad.mit.edu 37 13 67800609 67800609 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:67800609C>G ENST00000544246.1 - 2 2655 c.1964G>C c.(1963-1965)cGt>cCt p.R655P PCDH9_ENST00000328454.5_Missense_Mutation_p.R655P|PCDH9_ENST00000456367.1_Missense_Mutation_p.R655P|PCDH9_ENST00000377861.3_Missense_Mutation_p.R655P|PCDH9_ENST00000377865.2_Missense_Mutation_p.R655P NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 655 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R655P(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AGTAGAGGAACGAGGTGGTTG 0.438000 13 87 0 0 0.105934 0 0 SLC14A2 8170 broad.mit.edu 37 18 43247835 43247835 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:43247835C>A ENST00000255226.6 + 14 2571 c.1755C>A c.(1753-1755)ctC>ctA p.L585L SLC14A2_ENST00000589658.1_Silent_p.L62L|SLC14A2_ENST00000586448.1_Silent_p.L585L NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 585 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity p.L585L(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACTGGGTCCTCCGAGGCACAT 0.577000 120 42 3.13773e-49 6.14707e-49 0.048971 1 0 PROKR2 128674 broad.mit.edu 37 20 5283097 5283097 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:5283097C>A ENST00000546004.1 - 3 990 c.744G>T c.(742-744)cgG>cgT p.R248R PROKR2_ENST00000217270.3_Silent_p.R248R Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 248 integral to membrane|plasma membrane neuropeptide Y receptor activity p.R248R(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ACCAGAGCTCCCGGGAGATCC 0.577000 HNSCC(71;0.22) 22 34 9.95505e-16 1.49815e-15 0.069288 1 0 PTGFR 5737 broad.mit.edu 37 1 79002220 79002220 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:79002220G>T ENST00000370757.3 + 3 1165 c.928G>T c.(928-930)Gct>Tct p.A310S PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.A310S NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 310 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.A310S(1) breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TCTACGAAAGGCTGTCCTTAA 0.378000 14 86 1.5739e-10 2.12629e-10 0.028581 1 0 SHPRH 257218 broad.mit.edu 37 6 146262953 146262953 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:146262953C>G ENST00000367503.3 - 10 2694 c.2296G>C c.(2296-2298)Gat>Cat p.D766H SHPRH_ENST00000438092.2_Missense_Mutation_p.D766H|SHPRH_ENST00000275233.7_Missense_Mutation_p.D766H|SHPRH_ENST00000367505.2_Missense_Mutation_p.D766H NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 766 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.D766H(1) 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) ATAACTATATCCTGTTCTGCC 0.388000 9 42 0 0 0.047766 0 0 TNXB 7148 broad.mit.edu 37 6 32024666 32024666 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:32024666T>A ENST00000375244.3 - 23 8041 c.7840A>T c.(7840-7842)Acc>Tcc p.T2614S TNXB_ENST00000375247.2_Missense_Mutation_p.T2614S P22105 TENX_HUMAN tenascin XB 2674 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.T2701S(1)|p.T2614S(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTTGGGTGGTCTCGGCTTCA 0.582000 65 18 0 0 0.048971 0 0 IYD 389434 broad.mit.edu 37 6 150690185 150690185 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:150690185C>T ENST00000344419.3 + 1 158 c.18C>T c.(16-18)ccC>ccT p.P6P IYD_ENST00000229447.5_Silent_p.P6P|IYD_ENST00000392255.3_Silent_p.P6P|IYD_ENST00000392256.2_Silent_p.P6P|IYD_ENST00000500320.3_Silent_p.P6P NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 6 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane p.P6P(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TCCTGACTCCCATCTTGGTAG 0.502000 111 167 0 0 0.048971 0 0 STXBP3 6814 broad.mit.edu 37 1 109315285 109315285 + Splice_Site SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:109315285A>T ENST00000370008.3 + 7 488 c.e7-1 STXBP3_ENST00000485167.1_Splice_Site NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding p.?(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) GTCTTAACTTAGGTGTATACT 0.289000 9 27 0 0 0.047766 0 0 C1orf173 127254 broad.mit.edu 37 1 75037360 75037360 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:75037360C>A ENST00000326665.5 - 14 4252 c.4034G>T c.(4033-4035)gGa>gTa p.G1345V C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1345 Glu-rich. p.G1345V(1) 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 TTCACCACCTCCGTGTAGAAC 0.537000 19 72 2.39556e-15 3.58399e-15 0.076483 1 0 FGF13 2258 broad.mit.edu 37 X 137939775 137939775 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:137939775G>A ENST00000441825.2 - 1 66 c.29C>T c.(28-30)gCg>gTg p.A10V FGF13_ENST00000370603.3_Missense_Mutation_p.A39V|FGF13_ENST00000541469.1_Intron NM_001139501.1|NM_001139502.1 NP_001132973.1|NP_001132974.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 0 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity p.A39V(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CTTTAATTCCGCAGATTGGAT 0.463000 24 74 0 0 0.069288 0 0 CACNA1S 779 broad.mit.edu 37 1 201061212 201061212 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:201061212G>C ENST00000362061.3 - 4 655 c.429C>G c.(427-429)aaC>aaG p.N143K CACNA1S_ENST00000367338.3_Missense_Mutation_p.N143K NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 143 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.N143K(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTTGGATGACGTTAACCTGTT 0.592000 31 82 0 0 0.050027 0 0 NLGN1 22871 broad.mit.edu 37 3 173322536 173322536 + Missense_Mutation SNP G G T rs79808130 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:173322536G>T ENST00000457714.1 + 3 577 c.148G>T c.(148-150)Gat>Tat p.D50Y NLGN1_ENST00000545397.1_Missense_Mutation_p.D50Y|NLGN1_ENST00000401917.3_Missense_Mutation_p.D50Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D50Y NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 50 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.D50Y(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AAAATTGGATGATGTGGACCC 0.458000 40 72 3.09479e-21 5.18732e-21 0.092188 1 0 OR52A4P 390053 broad.mit.edu 37 11 5142424 5142424 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:5142424C>A ENST00000498233.1 - 0 974 p.A129S(1) breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TAACAGATCGCTACACAGCGG 0.468000 9 25 0.00448238 0.00478204 0.047766 1 0 DGKD 8527 broad.mit.edu 37 2 234370997 234370997 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:234370997C>A ENST00000264057.2 + 25 2997 c.2985C>A c.(2983-2985)atC>atA p.I995I DGKD_ENST00000409813.3_Silent_p.I951I NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 995 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity p.I995I(1) central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TCTCTAGTATCCGAGAAATAG 0.567000 5 35 0.000602214 0.000662782 0.014758 1 0 RNF17 56163 broad.mit.edu 37 13 25416251 25416251 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:25416251G>T ENST00000255324.5 + 19 2607 c.2555G>T c.(2554-2556)aGt>aTt p.S852I RNF17_ENST00000381921.1_Missense_Mutation_p.S852I NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 852 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.S852I(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTACTACTAGTATTAATGAC 0.348000 38 43 2.54651e-27 4.55753e-27 0.092188 1 0 NLRP8 126205 broad.mit.edu 37 19 56459432 56459432 + Missense_Mutation SNP G G A rs145268550 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56459432G>A ENST00000291971.3 + 1 235 c.164G>A c.(163-165)cGg>cAg p.R55Q NLRP8_ENST00000590542.1_Missense_Mutation_p.R55Q NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 55 DAPIN. cytoplasm ATP binding p.R55Q(1) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGCTACAACGGTTCAAGCAG 0.547000 6 19 0 0 0.021553 0 0 RGPD3 653489 broad.mit.edu 37 2 107049613 107049613 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:107049613A>C ENST00000409886.3 - 16 2421 c.2334T>G c.(2332-2334)caT>caG p.H778Q RGPD3_ENST00000304514.7_Missense_Mutation_p.H778Q NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 778 intracellular transport binding p.H778Q(2) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ATGGTGTAGAATGTTTTATTT 0.353000 32 192 0 0 0.048971 0 0 TBATA 219793 broad.mit.edu 37 10 72539382 72539382 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:72539382G>A ENST00000299290.1 - 5 783 c.394C>T c.(394-396)Cca>Tca p.P132S TBATA_ENST00000545575.1_Missense_Mutation_p.P122S|TBATA_ENST00000456372.2_Missense_Mutation_p.P132S NM_152710.2 NP_689923.2 thymus, brain and testes associated p.P132S(1) TTAGACTGTGGGTCTCCAATG 0.572000 7 44 0 0 0.029380 0 0 ALPK2 115701 broad.mit.edu 37 18 56184325 56184325 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:56184325C>T ENST00000361673.3 - 9 5968 c.5755G>A c.(5755-5757)Gcc>Acc p.A1919T NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1919 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity p.A1919T(1)|p.A1280T(1) 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 TCCTCCGTGGCGATCTGACCA 0.547000 5 93 0 0 0.014758 0 0 SEMA3F 6405 broad.mit.edu 37 3 50225348 50225348 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:50225348G>A ENST00000002829.3 + 19 2642 c.2158G>A c.(2158-2160)Gca>Aca p.A720T SEMA3F_ENST00000434342.1_Missense_Mutation_p.A689T|SEMA3F_ENST00000413852.1_Missense_Mutation_p.A621T NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 720 axon guidance extracellular space|membrane chemorepellent activity|receptor activity p.A720T(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACCCCCAGGCGCAGGCCCCCC 0.667000 4 8 0 0 0.021553 0 0 OLAH 55301 broad.mit.edu 37 10 15103797 15103797 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:15103797G>C ENST00000378217.3 + 5 584 c.397G>C c.(397-399)Gat>Cat p.D133H OLAH_ENST00000378228.3_Missense_Mutation_p.D80H NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 80 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity p.D133H(1) endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 CCAGTTAGTTGATGAAGTTGT 0.423000 76 150 0 0 0.048971 0 0 OR52K2 119774 broad.mit.edu 37 11 4471398 4471398 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:4471398C>A ENST00000325719.4 + 1 874 c.829C>A c.(829-831)Ctc>Atc p.L277I NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L277I(1) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCCACATCCTCCTTGCCAA 0.498000 68 83 5.41795e-27 9.62912e-27 0.048971 1 0 GPR149 344758 broad.mit.edu 37 3 154055976 154055976 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:154055976G>A ENST00000389740.2 - 4 1807 c.1708C>T c.(1708-1710)Ctt>Ttt p.L570F NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 570 integral to membrane|plasma membrane G-protein coupled receptor activity p.L570F(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAGGTAGAAAGAGATAGGGTT 0.468000 99 128 0 0 0.048971 0 0 TMTC1 83857 broad.mit.edu 37 12 29904683 29904683 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:29904683C>T ENST00000256062.5 - 5 1003 c.530G>A c.(529-531)tGg>tAg p.W177* TMTC1_ENST00000381224.2_Nonsense_Mutation_p.W177*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.W285*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.W285*|TMTC1_ENST00000539277.1_Nonsense_Mutation_p.W285* NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 285 integral to membrane binding p.W177*(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GCAGCCACCCCAAGCTCCTTT 0.637000 16 39 0 0 0.033300 0 0 ABCD2 225 broad.mit.edu 37 12 39967542 39967542 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:39967542G>T ENST00000308666.3 - 9 2114 c.1979C>A c.(1978-1980)tCt>tAt p.S660Y NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 660 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding p.S660Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 GTGTGTTATAGACAGTAAGGA 0.368000 36 46 2.87052e-16 4.39764e-16 0.080422 1 0 HMX2 3167 broad.mit.edu 37 10 124909093 124909093 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:124909093C>A ENST00000339992.3 + 2 533 c.276C>A c.(274-276)ccC>ccA p.P92P NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 92 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P92P(1) endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) CAGGTACCCCCAAGGGCAGCG 0.642000 15 46 6.94344e-10 9.17013e-10 0.038395 1 0 PPP1R3F 89801 broad.mit.edu 37 X 49142649 49142649 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:49142649A>T ENST00000055335.6 + 4 1513 c.1497A>T c.(1495-1497)ctA>ctT p.L499L PPP1R3F_ENST00000495799.1_Silent_p.L153L|PPP1R3F_ENST00000466508.1_Silent_p.L153L|PPP1R3F_ENST00000438316.1_Silent_p.L170L|PPP1R3F_ENST00000376188.1_Silent_p.L153L NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 499 integral to membrane p.L499L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) TGAGCCGCCTACGGGCTGCTG 0.682000 3 19 0 0 0.004672 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508039 106508039 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:106508039G>C ENST00000359195.3 + 2 343 c.33G>C c.(31-33)gtG>gtC p.V11V PIK3CG_ENST00000496166.1_Silent_p.V11V|PIK3CG_ENST00000440650.2_Silent_p.V11V NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 11 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.V11V(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AGCCCGTGGTGCTGAGAGAGG 0.587000 25 46 0 0 0.108266 0 0 C6orf118 168090 broad.mit.edu 37 6 165715541 165715541 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:165715541G>T ENST00000230301.8 - 2 290 c.270C>A c.(268-270)cgC>cgA p.R90R C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 90 p.R90R(1) breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCTCAGAGGCGCGCTCCCCCT 0.657000 37 54 2.75727e-19 4.46527e-19 0.074837 1 0 DNAH11 8701 broad.mit.edu 37 7 21788210 21788210 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:21788210C>T ENST00000328843.6 + 53 8575 c.8544C>T c.(8542-8544)agC>agT p.S2848S DNAH11_ENST00000409508.3_Silent_p.S2841S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2848 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S2848S(1) 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 GTCGCATCAGCCGGATCTTAC 0.507000 Kartagener syndrome 7 40 0 0 0.047766 0 0 BCL9 607 broad.mit.edu 37 1 147092304 147092304 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:147092304C>A ENST00000234739.3 + 8 3083 c.2343C>A c.(2341-2343)ccC>ccA p.P781P NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 781 Pro-rich. Wnt receptor signaling pathway nucleus protein binding p.P781P(1) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCATGGGCCCCAGACCATTCC 0.582000 T """IGH@, IGL@""" B-ALL 12 24 0.0202918 0.0212053 0.020292 1 0 DBF4 10926 broad.mit.edu 37 7 87536810 87536810 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:87536810C>G ENST00000265728.1 + 12 1861 c.1357C>G c.(1357-1359)Cta>Gta p.L453V NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 453 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding p.L453E(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) ACAGCTACCTCTACATAAAAA 0.323000 17 27 0 0 0.049695 0 0 SOAT2 8435 broad.mit.edu 37 12 53514665 53514665 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:53514665C>A ENST00000301466.3 + 11 1195 c.1135C>A c.(1135-1137)Cgg>Agg p.R379R NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 379 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding p.R379R(1) endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 GATGTTCTACCGGGTGGGGCC 0.557000 45 66 1.35964e-18 2.16975e-18 0.048971 1 0 IBA57 200205 broad.mit.edu 37 1 228362629 228362629 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:228362629G>C ENST00000366711.3 + 2 580 c.578G>C c.(577-579)cGc>cCc p.R193P IBA57_ENST00000546123.1_5'UTR|IBA57_ENST00000484749.1_3'UTR NM_001010867.2 NP_001010867.1 Q5T440 CAF17_HUMAN IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) 193 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity p.R193P(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1) 11 CGAACAGCACGCATGGGGTGG 0.692000 8 21 0 0 0.047766 0 0 TANC1 85461 broad.mit.edu 37 2 160020007 160020007 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:160020007A>T ENST00000263635.6 + 8 1133 c.896A>T c.(895-897)tAt>tTt p.Y299F TANC1_ENST00000454300.1_Missense_Mutation_p.Y193F NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 299 cell junction|postsynaptic density|postsynaptic membrane binding p.Y299F(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCAGTCCCTTATTCTCAGGGC 0.557000 17 36 0 0 0.038395 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128434679 128434679 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:128434679C>A ENST00000265960.3 - 2 507 c.175G>T c.(175-177)Ggt>Tgt p.G59C MAPKAP1_ENST00000373511.2_Missense_Mutation_p.G59C|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.G59C|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.G59C|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.G59C|MAPKAP1_ENST00000394063.1_Intron NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 59 Interaction with MAP3K2. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding p.G59C(2) endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 TGAGTCTCACCATTGCTTCCC 0.433000 13 23 1.5842e-08 2.0091e-08 0.105934 1 0 USP36 57602 broad.mit.edu 37 17 76831480 76831480 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:76831480G>A ENST00000312010.6 - 4 681 c.357C>T c.(355-357)cgC>cgT p.R119R USP36_ENST00000590546.2_Silent_p.R119R|USP36_ENST00000589424.1_Silent_p.R119R|USP36_ENST00000542802.2_Silent_p.R119R NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 119 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R119R(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTGCGCCCACGCGGAAGACCC 0.592000 13 16 0 0 0.028581 0 0 IWS1 55677 broad.mit.edu 37 2 128252492 128252492 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:128252492C>A ENST00000295321.4 - 8 2014 c.1755G>T c.(1753-1755)ctG>ctT p.L585L AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 585 transcription, DNA-dependent nucleus DNA binding p.L585L(1) cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TTAATTTTTTCAGTGCTGGCT 0.259000 25 58 7.38237e-10 9.71631e-10 0.030593 1 0 PRAME 23532 broad.mit.edu 37 22 22891032 22891032 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:22891032T>A ENST00000543184.1 - 5 1849 c.987A>T c.(985-987)atA>atT p.I329I PRAME_ENST00000402697.1_Silent_p.I329I|PRAME_ENST00000405655.3_Silent_p.I329I|PRAME_ENST00000398743.2_Silent_p.I329I|PRAME_ENST00000398741.1_Silent_p.I329I|PRAME_ENST00000424204.2_Silent_p.I313I|PRAME_ENST00000539862.1_Silent_p.I313I NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 329 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.I329I(1) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GGCAGTTAGTTATTGAGAGGG 0.547000 53 68 0 0 0.048971 0 0 SCN7A 6332 broad.mit.edu 37 2 167334168 167334168 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:167334168G>T ENST00000409855.1 - 2 165 c.39C>A c.(37-39)ttC>ttA p.F13L NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 13 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.F13L(2) 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 ACTCTTTAGTGAAGGGAACAA 0.338000 2 2 0.0784 0.0808269 0.004672 1 0 CD28 940 broad.mit.edu 37 2 204599581 204599581 + Silent SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:204599581C>G ENST00000374481.3 + 5 579 c.357C>G c.(355-357)cgC>cgG p.R119R CD28_ENST00000458610.2_Silent_p.R217R|CD28_ENST00000324106.7_Silent_p.R203R|CD28_ENST00000374478.4_Silent_p.R84R P10747 CD28_HUMAN CD28 molecule 203 Ig-like V-type. cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity p.R203R(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 GGCCCACCCGCAAGCATTACC 0.622000 14 61 0 0 0.105934 0 0 ARSJ 79642 broad.mit.edu 37 4 114823441 114823441 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:114823441T>A ENST00000315366.7 - 2 2655 c.1789A>T c.(1789-1791)Act>Tct p.T597S ARSJ_ENST00000541197.1_Intron NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 597 STCHSGVTCG -> KPANLAR (in Ref. 2). extracellular region arylsulfatase activity|metal ion binding p.T597S(1) endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TATCCACAAGTAACACCTGAA 0.358000 9 92 0 0 0.047766 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833217 43833217 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:43833217C>A ENST00000319294.6 + 4 470 c.439C>A c.(439-441)Cct>Act p.P147T UBASH3A_ENST00000291535.6_Missense_Mutation_p.P147T|UBASH3A_ENST00000398367.1_Missense_Mutation_p.P147T NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 147 cytosol|nucleus p.P147T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CACGGCCGTGCCTCTGGCTCT 0.617000 23 87 6.44725e-10 8.52953e-10 0.069288 1 0 IGHV4-31 28396 broad.mit.edu 37 14 106805449 106805449 + RNA SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:106805449G>A ENST00000438142.2 - 0 185 TACAGGTGAGGGACAGGGTCT 0.617000 48 121 0 0 0.048971 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008589 142008589 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:142008589C>A ENST00000390387.3 + 0 109 CCCTTGGACACAGCTGTTTCC 0.453000 13 28 1.3612e-06 1.61656e-06 0.024245 1 0 RBMXL2 27288 broad.mit.edu 37 11 7111241 7111241 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7111241G>T ENST00000306904.5 + 1 1077 c.890G>T c.(889-891)gGg>gTg p.G297V NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 297 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding p.G297V(1) 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) CCAGGACGGGGGACACCGCCA 0.657000 12 9 2.27111e-07 2.77459e-07 0.093190 1 0 TAP2 6891 broad.mit.edu 37 6 32797760 32797760 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:32797760T>A ENST00000374897.2 - 10 1873 c.1742A>T c.(1741-1743)cAg>cTg p.Q581L TAP2_ENST00000374899.4_Missense_Mutation_p.Q581L|TAP2_ENST00000452392.2_Missense_Mutation_p.Q581L NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 581 ABC transporter. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding p.Q581L(2) GTGGGCAGCCTGGGCAGCCGC 0.488000 133 47 0 0 0.048971 0 0 GLRA1 2741 broad.mit.edu 37 5 151231087 151231087 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:151231087C>A ENST00000274576.4 - 7 1068 c.776G>T c.(775-777)aGc>aTc p.S259I GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.S176I|GLRA1_ENST00000455880.2_Missense_Mutation_p.S259I NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 259 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity p.S259I(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AATGAGCAGGCTGGGAATATA 0.517000 25 57 3.65163e-15 5.3999e-15 0.030593 1 0 HIRA 7290 broad.mit.edu 37 22 19318997 19318997 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:19318997C>A ENST00000263208.5 - 25 3276 c.3020G>T c.(3019-3021)tGt>tTt p.C1007F HIRA_ENST00000340170.4_Missense_Mutation_p.C800F|HIRA_ENST00000541063.1_Missense_Mutation_p.C963F NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 1007 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.C1007F(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CTGTTCCTGACACTCGGTGAA 0.622000 13 55 3.27435e-08 4.0783e-08 0.020292 1 0 IKBKG 8517 broad.mit.edu 37 X 153780355 153780355 + Silent SNP C C A rs149511938 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153780355C>A ENST00000393549.2 + 2 261 c.138C>A c.(136-138)ggC>ggA p.G46G IKBKG_ENST00000369606.4_Silent_p.G46G|IKBKG_ENST00000369607.1_Silent_p.G46G|IKBKG_ENST00000369601.3_Silent_p.G46G|IKBKG_ENST00000470142.1_Silent_p.G46G|IKBKG_ENST00000369602.3_Silent_p.G46G|IKBKG_ENST00000263518.6_Silent_p.G46G|IKBKG_ENST00000369609.5_Silent_p.G114G|IKBKG_ENST00000455588.2_Silent_p.G46G Q9Y6K9 NEMO_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 46 Interaction with CHUK/IKBKB. activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus metal ion binding|protein domain specific binding|signal transducer activity p.G46G(1)|p.G114G(1) endometrium(1)|lung(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGAACAGGGCGCTCCTGAGA 0.632000 46 71 9.58827e-17 1.47779e-16 0.048971 1 0 TYW1B 441250 broad.mit.edu 37 7 72281203 72281203 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:72281203C>A ENST00000438125.1 - 0 336 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GTTGGTAGGCCGTCAGTGTAT 0.418000 23 98 4.26978e-12 5.95747e-12 0.083992 1 0 PRKCH 5583 broad.mit.edu 37 14 61915900 61915900 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:61915900A>G ENST00000332981.5 + 5 1017 c.632A>G c.(631-633)cAt>cGt p.H211R PRKCH_ENST00000555082.1_Missense_Mutation_p.H50R NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 211 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity p.H211R(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TGTGTCGTCCATAAACGCTGC 0.413000 43 129 0 0 0.048971 0 0 KRT5 3852 broad.mit.edu 37 12 52908997 52908997 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:52908997C>A ENST00000252242.4 - 9 1892 c.1502G>T c.(1501-1503)gGa>gTa p.G501V NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 501 Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton p.G501V(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) actgccATATCCAGAGGAAAC 0.582000 10 35 0.00829132 0.00879661 0.069234 1 0 ZNF438 220929 broad.mit.edu 37 10 31138643 31138643 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:31138643G>T ENST00000538351.1 - 7 1298 c.544C>A c.(544-546)Cag>Aag p.Q182K ZNF438_ENST00000452305.1_Missense_Mutation_p.Q221K|ZNF438_ENST00000442986.1_Missense_Mutation_p.Q231K|ZNF438_ENST00000436087.2_Missense_Mutation_p.Q231K|ZNF438_ENST00000361310.3_Missense_Mutation_p.Q231K|ZNF438_ENST00000413025.1_Missense_Mutation_p.Q231K|ZNF438_ENST00000331737.6_Missense_Mutation_p.Q221K|ZNF438_ENST00000444692.2_Missense_Mutation_p.Q221K|ZNF438_ENST00000375311.1_Intron NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q231K(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GTGAGGTCCTGCTTGGCAGGC 0.488000 61 115 1.12612e-26 1.98757e-26 0.048971 1 0 TIAM1 7074 broad.mit.edu 37 21 32537342 32537342 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:32537342G>A ENST00000286827.3 - 17 3399 c.2928C>T c.(2926-2928)acC>acT p.T976T TIAM1_ENST00000541036.1_Silent_p.T916T NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 976 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.T976T(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCTCTGGAGCGGTCTCAGCAC 0.502000 5 34 0 0 0.014758 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129570 248129570 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248129570A>T ENST00000366480.3 + 1 1036 c.937A>T c.(937-939)Acg>Tcg p.T313S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T313S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TAAGGAAGTGACGGGGGCAGT 0.433000 32 38 0 0 0.045705 0 0 CNTN1 1272 broad.mit.edu 37 12 41410654 41410654 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:41410654G>T ENST00000551295.2 + 19 2472 c.2355G>T c.(2353-2355)aaG>aaT p.K785N CNTN1_ENST00000348761.2_Missense_Mutation_p.K774N|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.K785N NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 785 Fibronectin type-III 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.K785N(1) 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) TTAAAGTCAAGGCCTTCAACA 0.423000 27 87 2.85442e-18 4.4897e-18 0.045705 1 0 WDR52 55779 broad.mit.edu 37 3 113084981 113084981 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113084981C>A ENST00000393845.2 - 19 2686 c.2620G>T c.(2620-2622)Gtg>Ttg p.V874L WDR52_ENST00000295868.2_Missense_Mutation_p.V874L NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 874 p.V22L(1)|p.V874L(1) breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CCAGCAGTCACCAAGAAACGA 0.373000 20 68 2.37509e-13 3.40697e-13 0.055883 1 0 DENND5B 160518 broad.mit.edu 37 12 31576610 31576610 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:31576610C>A ENST00000389082.5 - 11 2656 c.e11-1 DENND5B_ENST00000306833.6_Splice_Site|DENND5B_ENST00000536562.1_Splice_Site NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B integral to membrane p.?(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCGACTTCCCCTGAAAGTACA 0.343000 89 110 1.10192e-24 1.92711e-24 0.048971 1 0 SAMD7 344658 broad.mit.edu 37 3 169637322 169637322 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:169637322G>T ENST00000428432.2 + 3 425 c.36G>T c.(34-36)caG>caT p.Q12H SAMD7_ENST00000335556.3_Missense_Mutation_p.Q12H NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 12 p.Q12L(1) 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) CAACAGGGCAGCAGACAATCC 0.433000 31 51 8.16721e-17 1.26131e-16 0.045705 1 0 TTN 7273 broad.mit.edu 37 2 179536845 179536845 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179536845C>A ENST00000589042.1 - 155 35304 c.35080G>T c.(35080-35082)Ggc>Tgc p.G11694C TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G10393C|TTN_ENST00000591111.1_Missense_Mutation_p.G11320C|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11562 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G10393C(1) 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) TGAAACTCGCCTTCTTCAAAA 0.328000 7 19 0.0293803 0.030495 0.029380 1 0 HMGCS2 3158 broad.mit.edu 37 1 120301895 120301895 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:120301895T>A ENST00000369406.3 - 4 745 c.696A>T c.(694-696)ggA>ggT p.G232G HMGCS2_ENST00000544913.2_Silent_p.G190G|HMGCS2_ENST00000476640.1_Intron NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 232 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity p.G232G(1) NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CCATATGGGTTCCCCTCAGCC 0.473000 33 21 0 0 0.074837 0 0 SLC18A2 6571 broad.mit.edu 37 10 119017345 119017345 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:119017345G>T ENST00000298472.5 + 10 1076 c.933G>T c.(931-933)ctG>ctT p.L311L SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 311 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity p.L311L(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TCGCCATGCTGGAGCCAGCCC 0.542000 13 20 0.00010058 0.0001133 0.093190 1 0 FRG2B 441581 broad.mit.edu 37 10 135438789 135438789 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:135438789C>T ENST00000443774.1 - 4 703 c.654G>A c.(652-654)ctG>ctA p.L218L FRG2B_ENST00000425520.1_Silent_p.L217L Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 217 nucleus p.L218L(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCTGGGCACACAGAGGCCCCC 0.597000 5 35 0 0 0.069234 0 0 TTN 7273 broad.mit.edu 37 2 179546142 179546142 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179546142C>A ENST00000589042.1 - 137 33432 c.33208G>T c.(33208-33210)Gtg>Ttg p.V11070L TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V9826L|TTN_ENST00000591111.1_Missense_Mutation_p.V10753L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10753 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V9826L(1) 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) GGAATGGGCACTGGTACTTTT 0.348000 8 16 0.000274275 0.000304044 0.047766 1 0 RYR1 6261 broad.mit.edu 37 19 38995661 38995661 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:38995661G>A ENST00000355481.4 + 52 8381 c.8250G>A c.(8248-8250)aaG>aaA p.K2750K RYR1_ENST00000359596.3_Silent_p.K2750K|RYR1_ENST00000360985.3_Silent_p.K2750K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2750 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.K2750K(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCCGGAGAAGCTGGACTCCT 0.562000 10 63 0 0 0.080935 0 0 UTP20 27340 broad.mit.edu 37 12 101689353 101689353 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:101689353C>A ENST00000261637.4 + 12 1521 c.1347C>A c.(1345-1347)ctC>ctA p.L449L NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 449 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding p.L449L(1) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGGCCAAGCTCATTCTGAACA 0.433000 12 43 2.80697e-09 3.63814e-09 0.080935 1 0 LAMB4 22798 broad.mit.edu 37 7 107674697 107674697 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:107674697G>T ENST00000388781.3 - 31 4857 c.4774C>A c.(4774-4776)Cag>Aag p.Q1592K LAMB4_ENST00000205386.4_Missense_Mutation_p.Q1592K|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.Q1592K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1592 Domain I. cell adhesion basement membrane p.Q1592K(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GCAGTCAGCTGTGTAATGGTA 0.353000 53 105 6.9144e-35 1.30133e-34 0.048971 1 0 LTN1 26046 broad.mit.edu 37 21 30343757 30343757 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:30343757C>A ENST00000361371.4 - 7 970 c.820G>T c.(820-822)Gct>Tct p.A274S LTN1_ENST00000389195.2_Missense_Mutation_p.A320S|LTN1_ENST00000389194.2_Missense_Mutation_p.A320S NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 274 ligase activity|zinc ion binding p.A274S(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TCAAAATAAGCTGAGCGAATC 0.348000 10 80 3.07112e-06 3.59706e-06 0.080935 1 0 OR2L2 26246 broad.mit.edu 37 1 248202292 248202292 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248202292C>G ENST00000366479.2 + 1 819 c.723C>G c.(721-723)agC>agG p.S241R OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S241R(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAACCTGTAGCACCCACCTCA 0.502000 41 59 0 0 0.039052 0 0 PTGS2 5743 broad.mit.edu 37 1 186643683 186643683 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:186643683T>G ENST00000367468.5 - 10 1753 c.1617A>C c.(1615-1617)gaA>gaC p.E539D PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 539 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity p.E539D(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAAAACCCACTTCTCCACCAA 0.443000 66 82 0 0 0.048971 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49376608 49376608 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:49376608G>T ENST00000200453.5 + 2 387 c.118G>T c.(118-120)Gga>Tga p.G40* NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 40 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding p.G40*(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GAGGGGCCTGGGACCTCTAGA 0.637000 16 33 1.78486e-19 2.90277e-19 0.043863 1 0 OR2B3 442184 broad.mit.edu 37 6 29054921 29054921 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:29054921G>A ENST00000377173.2 - 1 169 c.105C>T c.(103-105)taC>taT p.Y35Y NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 p.Y35Y(1) breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TGGTGATTGTGTATGATATTA 0.408000 58 21 0 0 0.048971 0 0 FARP1 10160 broad.mit.edu 37 13 99092992 99092992 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:99092992C>G ENST00000376586.2 + 25 3127 c.2791C>G c.(2791-2793)Ctg>Gtg p.L931V FARP1_ENST00000595437.1_Missense_Mutation_p.L931V|FARP1_ENST00000319562.6_Missense_Mutation_p.L900V Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 900 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.L900V(1)|p.L931V(1) breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GCGCACATCGCTGGAGCGCCA 0.632000 8 25 0 0 0.038147 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396132 38396132 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:38396132G>T ENST00000377698.3 + 2 540 c.387G>T c.(385-387)aaG>aaT p.K129N NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 129 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.K129N(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) ACAATGGGAAGCCTTTCCAAG 0.577000 40 138 2.24893e-16 3.45227e-16 0.111260 1 0 ALMS1 7840 broad.mit.edu 37 2 73675761 73675761 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:73675761G>T ENST00000264448.6 + 8 2215 c.2104G>T c.(2104-2106)Gac>Tac p.D702Y ALMS1_ENST00000377715.1_Missense_Mutation_p.D702Y|ALMS1_ENST00000409009.1_Missense_Mutation_p.D660Y NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 702 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.D702Y(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGACCAGCTGACCAGAAGAC 0.478000 50 93 6.81593e-30 1.24606e-29 0.048971 1 0 SORCS3 22986 broad.mit.edu 37 10 106907476 106907476 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:106907476G>A ENST00000369701.3 + 9 1631 c.1404G>A c.(1402-1404)ggG>ggA p.G468G NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 468 integral to membrane neuropeptide receptor activity p.G468G(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACACGCGTGGGATTTACTTCA 0.448000 14 59 0 0 0.028581 0 0 INSC 387755 broad.mit.edu 37 11 15197461 15197461 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:15197461G>T ENST00000379554.3 + 3 418 c.372G>T c.(370-372)ctG>ctT p.L124L INSC_ENST00000424273.1_Silent_p.L77L|INSC_ENST00000528567.1_Silent_p.L77L|INSC_ENST00000525218.1_Silent_p.L77L|INSC_ENST00000530161.1_Silent_p.L77L|INSC_ENST00000379556.3_Silent_p.L77L NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 124 cell differentiation|nervous system development cytoplasm binding p.L124L(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TGCAGCTGCTGCTCAAACGGG 0.647000 13 13 3.27435e-08 4.0783e-08 0.020292 1 0 SPTA1 6708 broad.mit.edu 37 1 158644339 158644339 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158644339C>A ENST00000368148.3 - 9 1419 c.1239G>T c.(1237-1239)caG>caT p.Q413H SPTA1_ENST00000368147.3_Missense_Mutation_p.Q413H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 413 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.Q413_Q414>H*(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTTATGCTGCTGATGCCTGT 0.512000 9 212 3.86212e-05 4.4155e-05 0.069234 1 0 DEFB115 245929 broad.mit.edu 37 20 29845536 29845536 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:29845536G>T ENST00000400552.1 + 1 70 c.70G>T c.(70-72)Gtg>Ttg p.V24L NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 24 defense response to bacterium extracellular region p.V24L(1) kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) AGTTGTCCTTGTGGTCCTGGC 0.512000 37 34 1.30015e-28 2.34886e-28 0.074837 1 0 ABCC11 85320 broad.mit.edu 37 16 48248819 48248819 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:48248819G>T ENST00000394747.1 - 8 1570 c.1221C>A c.(1219-1221)tcC>tcA p.S407S ABCC11_ENST00000394748.1_Silent_p.S407S|ABCC11_ENST00000353782.5_Silent_p.S407S|ABCC11_ENST00000356608.2_Silent_p.S407S|ABCC11_ENST00000537808.1_Silent_p.S407S NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 407 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.S407S(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCAGCTTTAAGGATGTGTGGA 0.483000 20 36 1.50039e-11 2.07081e-11 0.062417 1 0 CDHR3 222256 broad.mit.edu 37 7 105672970 105672970 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:105672970G>A ENST00000542731.1 + 19 2593 c.2485G>A c.(2485-2487)Ggg>Agg p.G829R CDHR3_ENST00000317716.9_Missense_Mutation_p.G829R|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G741R Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 829 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G829R(2) breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 TGCTGGGGAAGGGATGGGGTC 0.552000 18 26 0 0 0.043863 0 0 TAF3 83860 broad.mit.edu 37 10 7866336 7866336 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:7866336G>T ENST00000344293.5 + 2 428 c.222G>T c.(220-222)ggG>ggT p.G74G NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 74 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding p.G74G(1) NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 AGCTGATGGGGGTTAGTCTAC 0.403000 62 154 5.86059e-21 9.75915e-21 0.048971 1 0 ZNF214 7761 broad.mit.edu 37 11 7022736 7022736 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7022736C>A ENST00000278314.4 - 3 493 c.178G>T c.(178-180)Gaa>Taa p.E60* ZNF214_ENST00000531083.1_5'UTR|ZNF214_ENST00000536068.1_Nonsense_Mutation_p.E60* NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E60*(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TTTTCATATTCTAAGTATCTG 0.378000 30 108 4.22769e-11 5.79323e-11 0.030593 1 0 CLU 1191 broad.mit.edu 37 8 27466505 27466505 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:27466505C>T ENST00000316403.10 - 3 601 c.196G>A c.(196-198)Gag>Aag p.E66K CLU_ENST00000405140.3_Missense_Mutation_p.E66K|CLU_ENST00000560366.1_Missense_Mutation_p.E118K|CLU_ENST00000523500.1_Missense_Mutation_p.E66K|CLU_ENST00000546343.1_Missense_Mutation_p.E77K P10909 CLUS_HUMAN clusterin 66 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding p.E118K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GTCTTGCGCTCTTCGTTTGTT 0.473000 6 151 0 0 0.021553 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110461533 110461533 + Splice_Site SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:110461533C>G ENST00000260283.4 - 12 1428 c.1143_splice c.e12-1 p.D382_splice ARHGAP20_ENST00000524756.1_Splice_Site_p.D359_splice|ARHGAP20_ENST00000528829.1_Splice_Site_p.D346_splice|ARHGAP20_ENST00000357139.3_Splice_Site_p.D356_splice|ARHGAP20_ENST00000533353.1_Splice_Site_p.D356_splice|ARHGAP20_ENST00000527598.1_Splice_Site_p.D346_splice NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 382 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.D382H(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AAAAGCATATCCTATGGGGAA 0.423000 21 24 0 0 0.069288 0 0 CSMD3 114788 broad.mit.edu 37 8 113293554 113293554 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:113293554G>A ENST00000297405.5 - 59 9601 c.9357C>T c.(9355-9357)acC>acT p.T3119T CSMD3_ENST00000352409.3_Silent_p.T3049T|CSMD3_ENST00000343508.3_Silent_p.T3079T|CSMD3_ENST00000455883.2_Silent_p.T2950T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3119 Sushi 23. integral to membrane|plasma membrane p.T3119T(1)|p.T3079T(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CATTGGCTGTGGTTCCTGGGT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 90 0 0 0.028581 0 0 RAG1 5896 broad.mit.edu 37 11 36597180 36597180 + Silent SNP C C A rs121918572 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:36597180C>A ENST00000299440.5 + 2 2438 c.2326C>A c.(2326-2328)Cgg>Agg p.R776R NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 776 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.R776R(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGAAGAACTGCGGGATCGGGT 0.483000 Familial Hemophagocytic Lymphohistiocytosis 16 60 2.23348e-06 2.62803e-06 0.028581 1 0 PGLYRP1 8993 broad.mit.edu 37 19 46526132 46526132 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:46526132G>T ENST00000008938.4 - 1 191 c.148C>A c.(148-150)Ctg>Atg p.L50M NM_005091.2 NP_005082.1 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 50 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding p.L50M(1) endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 10 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GGCAGGCTCAGGTGCTGGGCG 0.662000 4 10 0.00024832 0.000276473 0.009096 1 0 ITGA11 22801 broad.mit.edu 37 15 68657091 68657091 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:68657091C>A ENST00000423218.2 - 4 406 c.311G>T c.(310-312)cGc>cTc p.R104L ITGA11_ENST00000315757.7_Missense_Mutation_p.R104L|ITGA11_ENST00000562826.1_5'UTR Q9UKX5 ITA11_HUMAN integrin, alpha 11 104 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.R104L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AAGGCCGAGGCGCATGTTGTC 0.647000 7 40 2.52707e-12 3.55833e-12 0.058154 1 0 NETO1 81832 broad.mit.edu 37 18 70417782 70417782 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:70417782G>C ENST00000327305.6 - 9 1713 c.1056C>G c.(1054-1056)atC>atG p.I352M NETO1_ENST00000299430.2_Missense_Mutation_p.I351M|NETO1_ENST00000583169.1_Missense_Mutation_p.I352M NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 352 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.I352M(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GGATGATCACGATGCAGGAAG 0.463000 62 16 0 0 0.048971 0 0 MYOCD 93649 broad.mit.edu 37 17 12656400 12656400 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:12656400C>A ENST00000425538.1 + 10 1995 c.1795C>A c.(1795-1797)Ccg>Acg p.P599T MYOCD_ENST00000395988.1_Missense_Mutation_p.P503T|MYOCD_ENST00000343344.4_Missense_Mutation_p.P599T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 599 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.P599T(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GTGTCACCCACCGGCTTGTGA 0.517000 28 62 4.02929e-09 5.21357e-09 0.045705 1 0 NFKB2 4791 broad.mit.edu 37 10 104157797 104157797 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:104157797C>T ENST00000369966.3 + 9 971 c.721C>T c.(721-723)Cgg>Tgg p.R241W NFKB2_ENST00000189444.6_Missense_Mutation_p.R241W|NFKB2_ENST00000428099.1_Missense_Mutation_p.R241W NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 241 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R241W(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) AGGCTCTGTGCGGGGTGGAGA 0.498000 T IGH@ B-NHL 9 133 0 0 0.069234 0 0 PCDH19 57526 broad.mit.edu 37 X 99657617 99657617 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:99657617G>T ENST00000373034.4 - 3 4196 c.2521C>A c.(2521-2523)Cgc>Agc p.R841S PCDH19_ENST00000255531.7_Missense_Mutation_p.R794S|PCDH19_ENST00000420881.2_Missense_Mutation_p.R794S NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 841 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R841S(1)|p.R295S(1) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CTGGTGTTGCGGGTATTCTGG 0.567000 21 34 9.95505e-16 1.49815e-15 0.069288 1 0 PARK2 5071 broad.mit.edu 37 6 161771171 161771171 + Missense_Mutation SNP C C A rs137853056 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:161771171C>A ENST00000366898.1 - 12 1460 c.1358G>T c.(1357-1359)tGg>tTg p.W453L PARK2_ENST00000366894.1_Missense_Mutation_p.W262L|PARK2_ENST00000338468.3_Missense_Mutation_p.W262L|PARK2_ENST00000366896.1_Missense_Mutation_p.W304L|PARK2_ENST00000366897.1_Missense_Mutation_p.W425L NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 453 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 p.W453L(1) 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) GACGCGGTTCCACTCGCAGCC 0.637000 3 16 0.004672 0.00497049 0.004672 1 0 FGF23 8074 broad.mit.edu 37 12 4479725 4479725 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:4479725G>T ENST00000237837.1 - 3 685 c.540C>A c.(538-540)agC>agA p.S180R NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 180 Cleavage; by proprotein convertases. cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity p.S180R(1) NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CGTCCTCGGCGCTCCGGGTGT 0.687000 11 30 4.93089e-13 7.00754e-13 0.020292 1 0 LIPG 9388 broad.mit.edu 37 18 47108730 47108730 + Splice_Site SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:47108730A>T ENST00000261292.4 + 7 1314 c.e7-1 LIPG_ENST00000427224.2_Splice_Site NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity p.?(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 CTGTCACTGCAGTTTACCATT 0.448000 81 47 0 0 0.048971 0 0 TTN 7273 broad.mit.edu 37 2 179460446 179460446 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179460446C>A ENST00000589042.1 - 295 57859 c.57635G>T c.(57634-57636)gGa>gTa p.G19212V TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10339V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10272V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G10147V|TTN_ENST00000342992.6_Missense_Mutation_p.G16644V|TTN_ENST00000591111.1_Missense_Mutation_p.G17571V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17571 Ig-like 108. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G10339V(1)|p.G16644V(1)|p.G16642V(1)|p.G10147V(1)|p.G10272V(1) 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) TGGAGAGCCTCCATCATCTTC 0.458000 6 8 8.12818e-05 9.22398e-05 0.029380 1 0 AOC1 26 broad.mit.edu 37 7 150553761 150553761 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:150553761C>G ENST00000493429.1 + 4 787 c.203C>G c.(202-204)aCc>aGc p.T68S AOC1_ENST00000416793.2_Missense_Mutation_p.T68S|AOC1_ENST00000467291.1_Missense_Mutation_p.T68S|AOC1_ENST00000360937.4_Missense_Mutation_p.T68S amine oxidase, copper containing 1 p.T68S(1) GCCAAGAACACCGTGTTTCTC 0.557000 50 67 0 0 0.048971 0 0 ZNF521 25925 broad.mit.edu 37 18 22805191 22805191 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:22805191C>A ENST00000361524.3 - 4 2839 c.2691G>T c.(2689-2691)atG>atT p.M897I ZNF521_ENST00000538137.2_Missense_Mutation_p.M897I|ZNF521_ENST00000584787.1_Missense_Mutation_p.M677I NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 897 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.M897I(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCAAAGTTTCCATAGTGTAGG 0.502000 T PAX5 ALL 28 122 3.73148e-12 5.22543e-12 0.034045 1 0 DEPDC5 9681 broad.mit.edu 37 22 32233048 32233048 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:32233048C>T ENST00000400246.1 + 26 2403 c.2261C>T c.(2260-2262)cCc>cTc p.P754L DEPDC5_ENST00000400249.2_Missense_Mutation_p.P745L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P676L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P754L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P745L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P745L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P676L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P754L O75140 DEPD5_HUMAN DEP domain containing 5 745 intracellular signal transduction p.P676L(1)|p.P745L(1) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 GCGTGCCTCCCCCTTACCACC 0.572000 17 64 0 0 0.028581 0 0 CHD5 26038 broad.mit.edu 37 1 6214773 6214773 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:6214773G>A ENST00000262450.3 - 5 791 c.692C>T c.(691-693)cCg>cTg p.P231L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 231 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding p.P231L(1) breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGGCACCTGCGGGGGGCTGAC 0.682000 6 20 0 0 0.038147 0 0 GAB3 139716 broad.mit.edu 37 X 153927787 153927787 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153927787G>T ENST00000369575.3 - 6 1155 c.1122_splice c.e6-1 p.P375_splice GAB3_ENST00000424127.2_Splice_Site_p.P376_splice|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 375 p.P375Q(1) 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) GAACCTGCATGGCTGCAAAAG 0.522000 30 32 5.45727e-16 8.27776e-16 0.037714 1 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 5 49 0 0 0.021553 0 0 SLC12A5 57468 broad.mit.edu 37 20 44684841 44684841 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:44684841C>T ENST00000454036.1 + 22 2985 c.2909C>T c.(2908-2910)gCc>gTc p.A970V SLC12A5_ENST00000243964.3_Missense_Mutation_p.A947V NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 970 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity p.A947V(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAGAATCCAGCCAACACGCGG 0.582000 15 24 0 0 0.024245 0 0 PIGS 94005 broad.mit.edu 37 17 26883184 26883184 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:26883184C>A ENST00000308360.7 - 10 1556 c.1181_splice c.e10+1 p.R394_splice PIGS_ENST00000543734.1_Splice_Site_p.R333_splice|PIGS_ENST00000395346.2_Splice_Site_p.R386_splice NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 394 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding p.R394L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) AGGACCTCACCGCAACTGTGC 0.512000 16 49 0.000308642 0.000341154 0.024245 1 0 DCAF8L2 347442 broad.mit.edu 37 X 27766660 27766660 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:27766660C>A ENST00000451261.2 + 5 2047 c.1648C>A c.(1648-1650)Ctt>Att p.L550I NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 p.L517I(1) central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TGCCACTGAGCTTACTGGGTT 0.488000 9 20 9.70103e-10 1.27461e-09 0.069234 1 0 USH2A 7399 broad.mit.edu 37 1 216262470 216262470 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:216262470C>T ENST00000366943.2 - 23 5156 c.4770G>A c.(4768-4770)gtG>gtA p.V1590V USH2A_ENST00000307340.3_Silent_p.V1590V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1590 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.V1590V(1) 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) TAGTTACTTCCACTGGTGACC 0.328000 HNSCC(13;0.011) 21 83 0 0 0.069288 0 0 LAMA2 3908 broad.mit.edu 37 6 129835715 129835715 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:129835715C>A ENST00000421865.2 + 64 9235 c.9186C>A c.(9184-9186)gaC>gaA p.D3062E NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 3062 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.D3062E(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACACAAATGACCCTGTGTTTG 0.463000 11 37 1.08611e-07 1.34187e-07 0.080935 1 0 IFI27L1 122509 broad.mit.edu 37 14 94568239 94568239 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:94568239A>T ENST00000553664.1 + 5 333 c.208A>T c.(208-210)Agc>Tgc p.S70C IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000556381.1_Silent_p.A46A|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000393115.3_Silent_p.A47A|IFI27L1_ENST00000554562.1_Silent_p.A47A|IFI27L1_ENST00000555523.1_Silent_p.A47A Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 0 integral to membrane p.A47A(1) lung(2) 2 CCTCCATAGCAGCCAAGATGA 0.587000 55 34 0 0 0.048971 0 0 RRM2 6241 broad.mit.edu 37 2 10269234 10269234 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:10269234A>G ENST00000360566.2 + 9 1441 c.1150A>G c.(1150-1152)Att>Gtt p.I384V RRM2_ENST00000304567.5_Missense_Mutation_p.I324V NM_001165931.1 NP_001159403.1 P31350 RIR2_HUMAN ribonucleotide reductase M2 324 deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding p.I324V(1)|p.I384V(1) NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) GAAGCAATACATTGAGTTTGT 0.413000 72 124 0 0 0.048971 0 0 RELN 5649 broad.mit.edu 37 7 103151432 103151432 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:103151432G>C ENST00000424685.2 - 51 8299 c.8140C>G c.(8140-8142)Cat>Gat p.H2714D CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.H2714D|RELN_ENST00000343529.5_Missense_Mutation_p.H2714D P78509 RELN_HUMAN reelin 2714 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.F2713_H2714>LD(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAATCATCATGGAATAGCCAG 0.383000 11 37 0 0 0.080935 0 0 UNC5D 137970 broad.mit.edu 37 8 35608282 35608282 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:35608282C>A ENST00000287272.2 + 12 1931 c.1911C>A c.(1909-1911)taC>taA p.Y637* UNC5D_ENST00000449677.1_Nonsense_Mutation_p.Y282*|UNC5D_ENST00000404895.2_Nonsense_Mutation_p.Y706*|UNC5D_ENST00000453357.2_Nonsense_Mutation_p.Y701*|UNC5D_ENST00000420357.1_Nonsense_Mutation_p.Y639*|UNC5D_ENST00000416672.1_Nonsense_Mutation_p.Y711* Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 706 ZU5. apoptosis|axon guidance integral to membrane receptor activity p.Y701*(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCTGGATTACAACTTGAGAG 0.448000 88 109 2.4313e-29 4.41321e-29 0.048971 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54786654 54786654 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:54786654G>T ENST00000474759.1 + 12 1244 c.1196G>T c.(1195-1197)cGa>cTa p.R399L CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R399L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R399L|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R305L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 399 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.R399L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CTCATTGGACGAGAGGCTGCG 0.512000 11 18 2.80697e-09 3.63814e-09 0.080935 1 0 ANKMY1 51281 broad.mit.edu 37 2 241463637 241463637 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:241463637C>A ENST00000391987.1 - 8 1596 c.1230G>T c.(1228-1230)gaG>gaT p.E410D ANKMY1_ENST00000536462.1_Missense_Mutation_p.E222D|ANKMY1_ENST00000373318.2_Missense_Mutation_p.E269D|ANKMY1_ENST00000373320.4_Missense_Mutation_p.E180D|ANKMY1_ENST00000405002.1_Missense_Mutation_p.E180D|ANKMY1_ENST00000361678.4_Missense_Mutation_p.E269D|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.E410D|ANKMY1_ENST00000405523.3_Missense_Mutation_p.E269D|ANKMY1_ENST00000403283.1_Missense_Mutation_p.E348D|ANKMY1_ENST00000401804.1_Missense_Mutation_p.E499D Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 410 zinc ion binding p.E410D(1)|p.E269D(1) central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGTGGCCGCCCTCGTGGCTGC 0.642000 15 44 4.93089e-13 7.00754e-13 0.020292 1 0 PLS3 5358 broad.mit.edu 37 X 114856611 114856611 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:114856611G>C ENST00000420625.2 + 3 261 c.127G>C c.(127-129)Gaa>Caa p.E43Q PLS3_ENST00000537301.1_Missense_Mutation_p.E21Q|PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000355899.3_Missense_Mutation_p.E43Q|PLS3_ENST00000289290.3_5'UTR NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 43 EF-hand 1. cytoplasm actin binding|calcium ion binding p.E43Q(1) NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 GCTCTTCAAGGAAGCTAATAT 0.348000 56 93 0 0 0.048971 0 0 ODF2 4957 broad.mit.edu 37 9 131262412 131262412 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:131262412A>C ENST00000303890.5 + 23 2881 c.2296A>C c.(2296-2298)Aac>Cac p.N766H ODF2_ENST00000372807.5_Missense_Mutation_p.N785H|ODF2_ENST00000434106.2_Missense_Mutation_p.N790H|ODF2_ENST00000372796.4_Missense_Mutation_p.N790H|ODF2_ENST00000444119.2_Missense_Mutation_p.N766H|ODF2_ENST00000351030.3_Missense_Mutation_p.N785H NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 790 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity p.N766H(1)|p.N790H(1) autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CGAGAGCACCAACCGCAGCAT 0.582000 5 67 0 0 0.021553 0 0 SVIL 6840 broad.mit.edu 37 10 29813491 29813491 + Silent SNP C C A rs113842540 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:29813491C>A ENST00000375398.2 - 16 2945 c.2496G>T c.(2494-2496)gcG>gcT p.A832A SVIL_ENST00000355867.4_Silent_p.A832A|SVIL_ENST00000375400.3_Silent_p.A406A O95425 SVIL_HUMAN supervillin 832 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.A832A(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGGTAGAAATCGCTTTTGAGA 0.507000 48 80 4.01344e-20 6.5972e-20 0.048971 1 0 COL19A1 1310 broad.mit.edu 37 6 70647991 70647991 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:70647991C>A ENST00000322773.4 + 9 1037 c.936_splice c.e9+1 p.P312_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 312 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.P312Q(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AAAGGAGAGCCGGTAAGAAAA 0.373000 14 11 0.000219431 0.000244664 0.020292 1 0 CDH9 1007 broad.mit.edu 37 5 26881466 26881466 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:26881466G>A ENST00000231021.4 - 12 2321 c.2149C>T c.(2149-2151)Cat>Tat p.H717Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 717 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H717Y(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 AATCTTCGATGGATAAAATCT 0.413000 36 61 0 0 0.080422 0 0 GPR84 53831 broad.mit.edu 37 12 54757386 54757386 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:54757386G>T ENST00000551809.1 - 1 885 c.250C>A c.(250-252)Ctg>Atg p.L84M GPR84_ENST00000267015.3_Missense_Mutation_p.L84M|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 84 integral to membrane|plasma membrane G-protein coupled receptor activity p.L84M(1) NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CGCCAGTGCAGGTGGAGGTAG 0.582000 11 25 0.000978159 0.00106582 0.080935 1 0 DACT1 51339 broad.mit.edu 37 14 59112601 59112601 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:59112601G>A ENST00000395153.3 + 4 1296 c.1149G>A c.(1147-1149)tcG>tcA p.S383S DACT1_ENST00000541264.2_Silent_p.S139S|DACT1_ENST00000395151.3_Silent_p.S139S|DACT1_ENST00000556859.1_Silent_p.S139S|DACT1_ENST00000335867.4_Silent_p.S420S NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 420 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.S420S(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AGCAGTGGTCGAAAGAATCAA 0.567000 8 90 0 0 0.069234 0 0 TOP2B 7155 broad.mit.edu 37 3 25665829 25665829 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:25665829G>C ENST00000435706.2 - 20 2640 c.2439C>G c.(2437-2439)ggC>ggG p.G813G TOP2B_ENST00000264331.4_Silent_p.G818G Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 818 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity p.G813G(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 CAGCATCTTTGCCACCATGAA 0.363000 4 104 0 0 0.014758 0 0 DNAH9 1770 broad.mit.edu 37 17 11837221 11837221 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:11837221C>T ENST00000262442.3 + 65 12390 c.12322C>T c.(12322-12324)Ctg>Ttg p.L4108L DNAH9_ENST00000396001.2_Silent_p.L420L|DNAH9_ENST00000454412.2_Silent_p.L4032L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4108 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L4108L(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTGCGCTACCTGTTTGGAGA 0.517000 10 50 0 0 0.058154 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32893905 32893905 + RNA SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:32893905G>C ENST00000330048.5 - 0 1352 NR_003083.2 CACAAGTGAGGTTGGCCAGGC 0.627000 24 177 0 0 0.091800 0 0 CSMD2 114784 broad.mit.edu 37 1 34112410 34112410 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:34112410A>C ENST00000373381.4 - 29 4788 c.4612T>G c.(4612-4614)Ttc>Gtc p.F1538V CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.F411V NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1498 CUB 9. integral to membrane|plasma membrane protein binding p.F1498V(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATATGGAGGAAGTCATAGCCA 0.547000 8 8 0 0 0.047766 0 0 TMEM178A 130733 broad.mit.edu 37 2 39931220 39931220 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:39931220G>T ENST00000281961.2 + 2 456 c.e2-1 TMEM178A_ENST00000482239.1_Splice_Site NM_152390.2 NP_689603.2 transmembrane protein 178A p.?(1) TTTCCTTCAAGGTATTGCGCA 0.443000 12 24 9.31168e-06 1.08236e-05 0.105934 1 0 ZFPM2 23414 broad.mit.edu 37 8 106801085 106801085 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:106801085G>C ENST00000407775.2 + 6 922 c.672G>C c.(670-672)ctG>ctC p.L224L RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.L92L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.L92L|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_5'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 224 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.L224L(2) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CACGCCTGCTGGACTCAATTC 0.498000 46 72 0 0 0.048971 0 0 BIRC6 57448 broad.mit.edu 37 2 32724814 32724814 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:32724814G>T ENST00000421745.2 + 46 8803 c.8669G>T c.(8668-8670)cGa>cTa p.R2890L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2890 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.R2862L(1)|p.R2890L(1) 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) GTGGGTGCTCGAGCATGCTTT 0.438000 83 153 1.55023e-36 2.93205e-36 0.048971 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21032388 21032388 + Missense_Mutation SNP C C G rs138702607 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:21032388C>G ENST00000381545.3 + 11 1373 c.1154C>G c.(1153-1155)aCg>aGg p.T385R LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T385R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T385R|LST3_ENST00000540229.1_Missense_Mutation_p.T385R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 385 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 p.T385R(1) 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) ACCATTCCTACGGTTGCAACT 0.274000 9 43 0 0 0.058154 0 0 KIF4B 285643 broad.mit.edu 37 5 154395645 154395645 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:154395645A>T ENST00000435029.4 + 1 2386 c.2226A>T c.(2224-2226)cgA>cgT p.R742R NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 742 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity p.R742R(2) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGCAGCTCGAGTGAGGAATT 0.483000 10 31 0 0 0.069234 0 0 EARS2 124454 broad.mit.edu 37 16 23540900 23540900 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:23540900C>A ENST00000449606.1 - 7 1306 c.1275G>T c.(1273-1275)tgG>tgT p.W425C EARS2_ENST00000564501.1_Missense_Mutation_p.W425C|EARS2_ENST00000563459.1_Missense_Mutation_p.W425C|EARS2_ENST00000563232.1_Missense_Mutation_p.W425C|EARS2_ENST00000564987.1_5'UTR NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 425 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding p.W425C(1) central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CAGGGCGAGTCCACAGGTAAG 0.592000 11 43 1.58986e-06 1.88228e-06 0.069234 1 0 GPR119 139760 broad.mit.edu 37 X 129518863 129518863 + Missense_Mutation SNP C C A rs142057970 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:129518863C>A ENST00000276218.2 - 1 648 c.559G>T c.(559-561)Gac>Tac p.D187Y NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 187 integral to membrane|plasma membrane lipid binding p.D187Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 TTGAGCATGTCGCAGTAGAAG 0.542000 40 48 9.88483e-10 1.29654e-09 0.098360 1 0 MYF6 4618 broad.mit.edu 37 12 81102680 81102680 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:81102680G>T ENST00000228641.3 + 3 892 c.670G>T c.(670-672)Gac>Tac p.D224Y NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 224 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity p.D224Y(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 TTCCATCGTGGACAGTATTTC 0.512000 38 86 1.47244e-24 2.56923e-24 0.086207 1 0 ZWILCH 55055 broad.mit.edu 37 15 66811350 66811350 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:66811350G>T ENST00000307897.5 + 5 834 c.454G>T c.(454-456)Gga>Tga p.G152* RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Nonsense_Mutation_p.G38*|ZWILCH_ENST00000565960.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000446801.2_Nonsense_Mutation_p.G38*|ZWILCH_ENST00000535141.2_Nonsense_Mutation_p.G38* NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 152 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding p.G152*(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TTGTTGGCTAGGAGCTGAGCT 0.428000 19 83 6.33239e-15 9.32809e-15 0.055883 1 0 USH2A 7399 broad.mit.edu 37 1 216465702 216465702 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:216465702C>A ENST00000366943.2 - 10 2041 c.1655G>T c.(1654-1656)tGc>tTc p.C552F USH2A_ENST00000307340.3_Missense_Mutation_p.C552F|USH2A_ENST00000366942.3_Missense_Mutation_p.C552F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 552 Laminin EGF-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.C552F(1) 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) AAGAGGCAAGCAGCGATCACA 0.363000 HNSCC(13;0.011) 13 40 0.000151284 0.000169918 0.105934 1 0 H3F3C 440093 broad.mit.edu 37 12 31944715 31944715 + Missense_Mutation SNP C C A rs147097287 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:31944715C>A ENST00000340398.3 - 1 460 c.386G>T c.(385-387)cGg>cTg p.R129L NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 129 nucleosome assembly nucleosome|nucleus DNA binding p.R129L(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 TCCCCGTATCCGGCGAGCCAA 0.438000 HNSCC(67;0.2) 93 92 1.02827e-36 1.95448e-36 0.048971 1 0 TSPYL2 64061 broad.mit.edu 37 X 53114989 53114989 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:53114989T>G ENST00000375442.4 + 6 1547 c.1415T>G c.(1414-1416)aTc>aGc p.I472S NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 472 cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding p.I472S(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 ATAACTGACATCAATGAGAAC 0.463000 37 66 0 0 0.080422 0 0 SKIDA1 387640 broad.mit.edu 37 10 21805106 21805106 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:21805106C>A ENST00000449193.2 - 4 3898 c.1646G>T c.(1645-1647)aGg>aTg p.R549M SKIDA1_ENST00000444772.3_Missense_Mutation_p.R470M NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.R549M(2) CTCAGATACCCTATCGTTCCT 0.542000 26 71 3.73988e-18 5.87039e-18 0.030593 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 28 0 0 0.004672 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65346652 65346652 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:65346652C>T ENST00000284037.5 + 20 2334 c.1945C>T c.(1945-1947)Cac>Tac p.H649Y ERBB2IP_ENST00000380936.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.H649Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.H645Y|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.H649Y NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 649 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton p.H649Y(1) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGAAGTTACACACAATAGCAA 0.333000 13 54 0 0 0.024245 0 0 NUDT12 83594 broad.mit.edu 37 5 102895744 102895744 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:102895744C>A ENST00000230792.2 - 2 302 c.206_splice c.e2+1 p.G69_splice NUDT12_ENST00000507423.1_Intron NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 69 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity p.G69V(1) endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) AAATGTTTACCCTTTCTCAAG 0.363000 33 50 4.39465e-27 7.8286e-27 0.054565 1 0 SSPO 23145 broad.mit.edu 37 7 149484826 149484826 + RNA SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:149484826C>G ENST00000378016.2 + 0 3648 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCACATTATGCCACGCGGAGG 0.667000 2 3 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100685329 100685329 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:100685329C>A ENST00000306151.4 + 3 10696 c.10632C>A c.(10630-10632)tcC>tcA p.S3544S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3544 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S3544S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGTTGACTCCAACACTTTTG 0.483000 108 253 6.25226e-48 1.22174e-47 0.048971 1 0 AVPR2 554 broad.mit.edu 37 X 153171777 153171777 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153171777A>G ENST00000358927.2 + 3 1026 c.817A>G c.(817-819)Acg>Gcg p.T273A AVPR2_ENST00000337474.5_Missense_Mutation_p.T273A|AVPR2_ENST00000370049.1_Missense_Mutation_p.T273A P30518 V2R_HUMAN arginine vasopressin receptor 2 273 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity p.T273A(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TGTGAGGATGACGCTAGTGAT 0.672000 3 133 0 0 0.004672 0 0 MTMR1 8776 broad.mit.edu 37 X 149905222 149905222 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:149905222G>C ENST00000445323.2 + 11 1357 c.1236G>C c.(1234-1236)gtG>gtC p.V412V MTMR1_ENST00000541925.1_Silent_p.V310V|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000451863.2_Silent_p.V404V|MTMR1_ENST00000370390.3_Silent_p.V404V|MTMR1_ENST00000544228.1_Silent_p.V404V Q13613 MTMR1_HUMAN myotubularin related protein 1 404 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity p.V404V(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAATGTGGATGGGACGC 0.438000 22 49 0 0 0.069288 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397328 51397328 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:51397328A>G ENST00000327536.5 - 1 145 c.46T>C c.(46-48)Tgt>Cgt p.C16R RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 16 p.C16R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) TCTGCCTCACAGAGTGTGGAA 0.512000 47 63 0 0 0.048971 0 0 FLT1 2321 broad.mit.edu 37 13 28964084 28964084 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:28964084C>A ENST00000282397.4 - 13 2069 c.1818G>T c.(1816-1818)aaG>aaT p.K606N FLT1_ENST00000541932.1_Missense_Mutation_p.K606N NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 606 Ig-like C2-type 6. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.K606N(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CCATTTTTTGCTTGCTAATAC 0.413000 40 117 7.53189e-24 1.30235e-23 0.098360 1 0 TRBV29-1 28558 broad.mit.edu 37 7 142448616 142448616 + RNA SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:142448616C>T ENST00000422143.2 + 0 277 p.A70A(1) GCTCTGAGGCCACATATGAGA 0.498000 16 23 0 0 0.024245 0 0 NELL1 4745 broad.mit.edu 37 11 20950015 20950015 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:20950015G>T ENST00000298925.5 + 10 1224 c.1071G>T c.(1069-1071)aaG>aaT p.K357N NELL1_ENST00000325319.5_Missense_Mutation_p.K272N|NELL1_ENST00000357134.5_Missense_Mutation_p.K329N|NELL1_ENST00000532434.1_Missense_Mutation_p.K329N Q92832 NELL1_HUMAN NEL-like 1 (chicken) 329 VWFC 2. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.K329N(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGTGCTGTAAGGTCTGCCGAC 0.498000 27 34 2.4375e-19 3.95577e-19 0.034045 1 0 PCDH17 27253 broad.mit.edu 37 13 58207805 58207805 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:58207805G>T ENST00000377918.3 + 1 1151 c.1125G>T c.(1123-1125)cgG>cgT p.R375R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 375 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.R375R(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCTGGTGCGGGTCACTGACC 0.731000 7 26 2.0095e-06 2.36812e-06 0.029380 1 0 HOXB2 3212 broad.mit.edu 37 17 46622233 46622233 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:46622233C>T ENST00000330070.4 - 1 1208 c.41G>A c.(40-42)aGc>aAc p.S14N HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 14 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S14N(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 CGACGGCTGGCTGTTTATAAA 0.532000 15 76 0 0 0.033300 0 0 LRRC15 131578 broad.mit.edu 37 3 194080235 194080235 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:194080235T>A ENST00000347624.3 - 2 1623 c.1538A>T c.(1537-1539)gAa>gTa p.E513V LRRC15_ENST00000428839.1_Missense_Mutation_p.E519V|LRRC15_ENST00000439944.2_Missense_Mutation_p.E519V NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 513 integral to membrane p.E513I(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGTGTAGTCTTCCACAGGGCT 0.552000 21 38 0 0 0.062417 0 0 SIX2 10736 broad.mit.edu 37 2 45236176 45236176 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:45236176C>A ENST00000303077.6 - 1 393 c.74G>T c.(73-75)gGc>gTc p.G25V NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 25 nucleus sequence-specific DNA binding transcription factor activity p.G25V(1) endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCGATGTTGCCGCCCTGCTG 0.682000 3 12 0.00909568 0.00957045 0.009096 1 0 MDN1 23195 broad.mit.edu 37 6 90468063 90468063 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:90468063C>A ENST00000369393.3 - 19 2728 c.2613G>T c.(2611-2613)ctG>ctT p.L871L MDN1_ENST00000428876.1_Silent_p.L871L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 871 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.L871L(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GATGCCGAACCAGTGGCTCTG 0.453000 12 1 6.40141e-05 7.29685e-05 0.080935 1 0 HTR1F 3355 broad.mit.edu 37 3 88040284 88040284 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:88040284G>A ENST00000319595.4 + 1 439 c.385G>A c.(385-387)Gtt>Att p.V129I NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 129 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity p.V129I(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CACAGATGCTGTTGAGTATGC 0.433000 6 30 0 0 0.021553 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862876 10862876 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:10862876C>A ENST00000559480.1 + 0 172 p.Q58K(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 CTGGGTGCACCAGGTCCATGC 0.562000 17 143 5.43694e-19 8.72892e-19 0.080422 1 0 MAP3K19 80122 broad.mit.edu 37 2 135745412 135745412 + Missense_Mutation SNP C C A rs145468662 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:135745412C>A ENST00000375845.3 - 7 1060 c.1030G>T c.(1030-1032)Gtt>Ttt p.V344F MAP3K19_ENST00000358371.4_Missense_Mutation_p.V231F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.V361F|MAP3K19_ENST00000392918.3_Intron NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 p.V344F(1) TCTTCCCTAACTGCAGGAATA 0.373000 25 33 9.57634e-11 1.30293e-10 0.083992 1 0 ATL1 51062 broad.mit.edu 37 14 51087337 51087337 + Nonsense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:51087337A>T ENST00000441560.2 + 10 1364 c.883A>T c.(883-885)Aaa>Taa p.K295* ATL1_ENST00000357032.3_Nonsense_Mutation_p.K295*|ATL1_ENST00000358385.6_Nonsense_Mutation_p.K295*|ATL1_ENST00000354525.4_Nonsense_Mutation_p.K295* NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 295 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding p.N296fs*2(1)|p.K295*(1) central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 TGAATTCATCAAAAACTTGAA 0.378000 8 124 0 0 0.069234 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77094408 77094408 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:77094408T>G ENST00000328299.3 + 5 983 c.835T>G c.(835-837)Ttt>Gtt p.F279V NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 279 protein glycosylation integral to Golgi membrane sialyltransferase activity p.F279V(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 GGGTCATAGGTTTATCACTGA 0.378000 30 65 0 0 0.030593 0 0 EIF4E3 317649 broad.mit.edu 37 3 71748851 71748851 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:71748851C>A ENST00000425534.2 - 3 265 c.258G>T c.(256-258)tgG>tgT p.W86C EIF4E3_ENST00000448225.1_5'UTR|EIF4E3_ENST00000389826.3_5'UTR|EIF4E3_ENST00000295612.3_5'UTR|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000421769.2_5'UTR NM_001134651.1 NP_001128123.1 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E family member 3 86 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity p.W86C(1) large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) TGTATACACTCCAAAATATCT 0.318000 22 67 8.10497e-08 1.0046e-07 0.055883 1 0 MXRA5 25878 broad.mit.edu 37 X 3261777 3261777 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:3261777C>A ENST00000217939.6 - 2 252 c.98G>T c.(97-99)tGc>tTc p.C33F NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 33 LRRNT. extracellular region p.C33F(2) 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) GGGGACGTAGCAGGCACAAGG 0.627000 8 30 0.0381472 0.0394875 0.038147 1 0 ZNF234 10780 broad.mit.edu 37 19 44662182 44662182 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44662182C>A ENST00000426739.2 + 6 2271 c.2013C>A c.(2011-2013)caC>caA p.H671Q ZNF234_ENST00000592437.1_Missense_Mutation_p.H671Q NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 671 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H671Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TAAGTCATCACAAAATTCATG 0.368000 24 44 1.10923e-09 1.45243e-09 0.076483 1 0 C17orf53 78995 broad.mit.edu 37 17 42232034 42232034 + Splice_Site SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:42232034T>A ENST00000319977.4 + 6 1798 c.e6+2 C17orf53_ENST00000585683.1_Splice_Site|C17orf53_ENST00000245382.6_Splice_Site NM_001171251.1|NM_024032.3 NP_001164722.1|NP_076937.2 Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 p.?(1) NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) ACCCCACGGGTAAGGAATTAG 0.542000 9 46 0 0 0.047766 0 0 MYH11 4629 broad.mit.edu 37 16 15818582 15818582 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:15818582G>T ENST00000338282.6 - 30 4144 c.4038C>A c.(4036-4038)aaC>aaA p.N1346K MYH11_ENST00000396324.3_Missense_Mutation_p.N1353K|MYH11_ENST00000300036.5_Missense_Mutation_p.N1346K|MYH11_ENST00000452625.2_Missense_Mutation_p.N1353K|MYH11_ENST00000576790.1_Missense_Mutation_p.N1346K|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000342673.5_3'UTR NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1346 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.N1346K(1)|p.N1353K(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTTGCAGGCTGTTCCGCTCCT 0.592000 T CBFB AML 64 171 1.52808e-22 2.62446e-22 0.048971 1 0 TMEM176B 28959 broad.mit.edu 37 7 150488658 150488658 + Silent SNP C C A rs146845592 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:150488658C>A ENST00000447204.2 - 7 1146 c.774G>T c.(772-774)tcG>tcT p.S258S TMEM176B_ENST00000434545.1_Silent_p.S258S|TMEM176B_ENST00000326442.5_Silent_p.S258S|TMEM176B_ENST00000429904.2_Silent_p.S258S|TMEM176B_ENST00000492607.1_Silent_p.S258S|TMEM176B_ENST00000450753.2_Silent_p.S221S NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 258 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane p.S258S(1) cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCTAGAGGGCGAAGGGGGCA 0.567000 21 30 7.41877e-09 9.45554e-09 0.062417 1 0 CNBD1 168975 broad.mit.edu 37 8 88218342 88218342 + Missense_Mutation SNP G G C rs114439288 by1000genomes TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:88218342G>C ENST00000518476.1 + 5 604 c.553G>C c.(553-555)Gaa>Caa p.E185Q CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 185 p.E185Q(2) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TGTCTTTTCCGAAACCTGGTT 0.373000 47 30 0 0 0.048971 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254366 30254366 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:30254366G>T ENST00000361644.2 + 5 1062 c.325G>T c.(325-327)Gac>Tac p.D109Y MAGEB3_ENST00000378986.1_Missense_Mutation_p.D109Y NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 109 p.D109Y(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 GTCTCGCACAGACCCTCTAAT 0.398000 17 51 2.48551e-13 3.54543e-13 0.033300 1 0 GPR112 139378 broad.mit.edu 37 X 135428831 135428831 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:135428831C>A ENST00000394143.1 + 6 3257 c.2966C>A c.(2965-2967)tCc>tAc p.S989Y GPR112_ENST00000412101.1_Missense_Mutation_p.S784Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S926Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S784Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S989Y NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 989 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S989Y(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACAGCTACGTCCTTGTCTGAT 0.493000 116 175 1.14936e-50 2.28086e-50 0.048971 1 0 TRPC5 7224 broad.mit.edu 37 X 111025234 111025234 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:111025234A>G ENST00000262839.2 - 8 2947 c.2029T>C c.(2029-2031)Ttc>Ctc p.F677L NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 677 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.F677L(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTGTTGTTGAACCAGTTACCA 0.448000 15 237 0 0 0.043863 0 0 ITGB8 3696 broad.mit.edu 37 7 20441685 20441685 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:20441685G>T ENST00000222573.3 + 10 2307 c.1623G>T c.(1621-1623)gtG>gtT p.V541V ITGB8_ENST00000537992.1_Silent_p.V406V NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 541 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity p.V541V(2) 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 TTGGAAAAGTGTATGGAAAAT 0.398000 50 159 3.19069e-20 5.26738e-20 0.048971 1 0 CSMD3 114788 broad.mit.edu 37 8 113293448 113293448 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:113293448A>C ENST00000297405.5 - 59 9707 c.9463T>G c.(9463-9465)Tgc>Ggc p.C3155G CSMD3_ENST00000352409.3_Missense_Mutation_p.C3085G|CSMD3_ENST00000343508.3_Missense_Mutation_p.C3115G|CSMD3_ENST00000455883.2_Missense_Mutation_p.C2986G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3155 Sushi 23. integral to membrane|plasma membrane p.C3155G(1)|p.C3115G(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGGCTGTGCACTGTCTAACT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 138 0 0 0.021553 0 0 TSPAN33 340348 broad.mit.edu 37 7 128801519 128801519 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:128801519G>T ENST00000289407.4 + 2 211 c.e2-1 NM_178562.3 NP_848657.1 Q86UF1 TSN33_HUMAN tetraspanin 33 integral to membrane p.?(1) NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 TGTCTCCACAGGTGATTTCCA 0.552000 48 105 3.77171e-38 7.22283e-38 0.048971 1 0 NFATC2 4773 broad.mit.edu 37 20 50139662 50139662 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:50139662G>T ENST00000371564.3 - 2 1337 c.1118C>A c.(1117-1119)cCc>cAc p.P373H NFATC2_ENST00000396009.3_Missense_Mutation_p.P373H|NFATC2_ENST00000414705.1_Missense_Mutation_p.P353H NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 373 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity p.P373H(1) EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGGCCAAGTGGGCGGAACCAG 0.577000 34 200 1.57351e-24 2.73935e-24 0.064281 1 0 GABRP 2568 broad.mit.edu 37 5 170216248 170216248 + Missense_Mutation SNP G G T rs146765294 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:170216248G>T ENST00000518525.1 + 4 633 c.169G>T c.(169-171)Ggt>Tgt p.G57C GABRP_ENST00000519385.1_Missense_Mutation_p.G57C|GABRP_ENST00000519598.1_Missense_Mutation_p.G57C|GABRP_ENST00000265294.4_Missense_Mutation_p.G57C O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 57 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.G57C(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCCAATTTTGGTGGTAGGTC 0.473000 13 12 1.61879e-10 2.17543e-10 0.093190 1 0 FAT3 120114 broad.mit.edu 37 11 92086050 92086050 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:92086050C>A ENST00000298047.6 + 1 789 c.772C>A c.(772-774)Cgc>Agc p.R258S FAT3_ENST00000541502.1_Missense_Mutation_p.R258S|FAT3_ENST00000525166.1_Missense_Mutation_p.R108S|FAT3_ENST00000409404.2_Missense_Mutation_p.R258S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 258 Cadherin 2. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.R258C(2)|p.R258S(2) 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) TCACATTGAGCGCATAAATGA 0.428000 TCGA Ovarian(4;0.039) 65 78 1.50372e-20 2.4878e-20 0.048971 1 0 MYO9A 4649 broad.mit.edu 37 15 72190736 72190736 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:72190736G>A ENST00000356056.5 - 25 4580 c.4108C>T c.(4108-4110)Cgg>Tgg p.R1370W MYO9A_ENST00000444904.1_Missense_Mutation_p.R1351W|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1370W|MYO9A_ENST00000566885.1_Missense_Mutation_p.R990W|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1370W|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1370 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.R1370W(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCATTGTCCCGTGAATCAAAT 0.438000 26 80 0 0 0.099896 0 0 ENPP2 5168 broad.mit.edu 37 8 120602768 120602768 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:120602768G>T ENST00000427067.2 - 13 1352 c.1172C>A c.(1171-1173)tCc>tAc p.S391Y ENPP2_ENST00000259486.6_Missense_Mutation_p.S447Y|ENPP2_ENST00000075322.6_Missense_Mutation_p.S395Y|ENPP2_ENST00000522167.1_Missense_Mutation_p.S34Y|ENPP2_ENST00000522826.1_Missense_Mutation_p.S395Y Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 395 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.S447Y(1)|p.S395Y(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCTAAATTTGGATCGAATTCT 0.338000 77 40 3.27973e-32 6.06828e-32 0.048971 1 0 SF3A1 10291 broad.mit.edu 37 22 30738254 30738254 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:30738254T>C ENST00000439242.1 - 6 748 c.617A>G c.(616-618)tAt>tGt p.Y206C SF3A1_ENST00000215793.7_Missense_Mutation_p.Y271C NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 271 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding p.Y271C(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GATCTGAGCATAGGCCACCCG 0.532000 15 27 0 0 0.024245 0 0 ZNF831 128611 broad.mit.edu 37 20 57829372 57829372 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:57829372G>C ENST00000371030.2 + 5 4608 c.4608G>C c.(4606-4608)gaG>gaC p.E1536D NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1536 intracellular nucleic acid binding|zinc ion binding p.E1536D(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TCACAGAAGAGGGCAGAGCAC 0.493000 11 12 0 0 0.069234 0 0 F8 2157 broad.mit.edu 37 X 154065972 154065972 + Missense_Mutation SNP G G C rs137852472 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:154065972G>C ENST00000360256.4 - 26 7156 c.6956C>G c.(6955-6957)cCg>cGg p.P2319R F8_ENST00000330287.6_Missense_Mutation_p.P184R NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2319 F5/8 type C 2. P -> L (in HEMA; mild/severe).|P -> S (in HEMA; mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.P2319R(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGTCAGTAACGGTGGGTCTAG 0.502000 14 37 0 0 0.020292 0 0 BCAN 63827 broad.mit.edu 37 1 156622549 156622549 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:156622549G>T ENST00000329117.4 + 8 2143 c.1807G>T c.(1807-1809)Ggt>Tgt p.G603C BCAN_ENST00000361588.5_Missense_Mutation_p.G603C|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 603 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding p.G603C(2) cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGCCCCTGAGGGTACCAGGGA 0.647000 7 32 3.09899e-07 3.76797e-07 0.047766 1 0 KCNB1 3745 broad.mit.edu 37 20 47989700 47989700 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:47989700G>T ENST00000371741.4 - 2 2563 c.2397C>A c.(2395-2397)agC>agA p.S799R NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 799 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.S799R(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTAAAGGGGAGCTTTCAAAGT 0.522000 103 245 2.32112e-61 4.69123e-61 0.048971 1 0 TTF2 8458 broad.mit.edu 37 1 117605061 117605061 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:117605061G>T ENST00000369466.3 + 3 228 c.184G>T c.(184-186)Ggt>Tgt p.G62C NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 62 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding p.G62C(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) AGAGCTTCAGGGTTTGCTTCT 0.378000 5 68 3.59834e-05 4.13863e-05 0.021553 1 0 CTNNA2 1496 broad.mit.edu 37 2 80816498 80816498 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:80816498G>C ENST00000466387.1 + 19 2801 c.2077G>C c.(2077-2079)Gag>Cag p.E693Q CTNNA2_ENST00000496558.1_Missense_Mutation_p.E693Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E727Q|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E372Q|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E693Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E693Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E693Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 693 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.E693Q(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ATTCCATCAAGAGAAAAGCAA 0.488000 22 52 0 0 0.055883 0 0 RFT1 91869 broad.mit.edu 37 3 53156537 53156537 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:53156537G>T ENST00000296292.3 - 4 370 c.309C>A c.(307-309)atC>atA p.I103I RFT1_ENST00000394738.3_Silent_p.I64I NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 103 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity p.I103I(1) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GCTGCAACCAGATCCAGCCCA 0.423000 19 26 2.39187e-15 3.58399e-15 0.049695 1 0 DRD3 1814 broad.mit.edu 37 3 113890579 113890579 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113890579T>A ENST00000383673.2 - 2 691 c.261A>T c.(259-261)gtA>gtT p.V87V DRD3_ENST00000460779.1_Silent_p.V87V|DRD3_ENST00000295881.7_Silent_p.V87V|DRD3_ENST00000467632.1_Silent_p.V87V NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 87 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding p.V87V(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CCTCCAGGTATACCACCCAGG 0.547000 26 71 0 0 0.030593 0 0 ANXA10 11199 broad.mit.edu 37 4 169105768 169105768 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:169105768A>T ENST00000359299.3 + 11 1028 c.842A>T c.(841-843)gAc>gTc p.D281V NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 281 calcium ion binding|calcium-dependent phospholipid binding p.D281V(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) AGTGAAATAGACCTGCTGACC 0.373000 59 74 0 0 0.048971 0 0 ZNF638 27332 broad.mit.edu 37 2 71591170 71591170 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:71591170G>T ENST00000409544.1 + 5 2135 c.1505G>T c.(1504-1506)aGt>aTt p.S502I ZNF638_ENST00000355812.3_Missense_Mutation_p.S502I|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.S502I|ZNF638_ENST00000377802.2_Missense_Mutation_p.S502I NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 502 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.S502I(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCAAGCTCAAGTCACAGATTC 0.458000 28 76 5.45727e-16 8.27776e-16 0.037714 1 0 FBXO39 162517 broad.mit.edu 37 17 6690699 6690699 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:6690699G>T ENST00000321535.4 + 4 1411 c.1281G>T c.(1279-1281)ctG>ctT p.L427L NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 427 p.L427L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 ACAGAAAGCTGATCGAATCAG 0.398000 18 63 3.41278e-10 4.55434e-10 0.033300 1 0 WDR35 57539 broad.mit.edu 37 2 20180465 20180465 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:20180465C>A ENST00000345530.3 - 4 409 c.294G>T c.(292-294)tgG>tgT p.W98C WDR35_ENST00000281405.4_Missense_Mutation_p.W98C NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 98 p.W98C(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATATAACATCCACACAATGA 0.333000 24 50 4.4004e-07 5.32497e-07 0.083992 1 0 PCDHGB7 56099 broad.mit.edu 37 5 140798154 140798154 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:140798154G>T ENST00000398594.2 + 1 728 c.728G>T c.(727-729)aGc>aTc p.S243I PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018927.3 NP_061750.1 p.S243I(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) CCAGTGTTCAGCCAGGACGTG 0.567000 33 62 4.3181e-19 6.97819e-19 0.054565 1 0 MED16 10025 broad.mit.edu 37 19 881589 881589 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:881589C>A ENST00000312090.6 - 7 1261 c.1111G>T c.(1111-1113)Gcc>Tcc p.A371S MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.A371S|MED16_ENST00000325464.1_Missense_Mutation_p.A371S|MED16_ENST00000269814.4_Missense_Mutation_p.A371S|MED16_ENST00000395808.3_Missense_Mutation_p.A371S Q9Y2X0 MED16_HUMAN mediator complex subunit 16 371 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding p.A371S(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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) GTGTCGCTGGCCACCTTGAGG 0.657000 62 24 5.86059e-21 9.75915e-21 0.048971 1 0 NXF4 55999 broad.mit.edu 37 X 101822135 101822135 + RNA SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:101822135C>G ENST00000360035.2 + 0 1888 NR_002216.1 endometrium(2)|lung(8) 10 CTCTCCAGATCACTCATTACT 0.458000 3 9 0 0 0.004672 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551393 100551393 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:100551393C>A ENST00000397112.4 - 0 1805 NR_036632.1 p.R68M(1) large_intestine(1)|lung(3) 4 GGGCTGCTGCCTCAGGTTCCT 0.647000 28 37 1.50538e-07 1.85092e-07 0.030593 1 0 KNDC1 85442 broad.mit.edu 37 10 134999589 134999589 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:134999589C>T ENST00000304613.3 + 6 758 c.737C>T c.(736-738)cCg>cTg p.P246L KNDC1_ENST00000368571.2_Missense_Mutation_p.P181L|KNDC1_ENST00000368572.2_Missense_Mutation_p.P246L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 246 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.P246L(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCCGAAGGCCCGGAGTCTGAG 0.721000 3 10 0 0 0.004672 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814109 106814109 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:106814109G>T ENST00000407775.2 + 8 2049 c.1799G>T c.(1798-1800)gGc>gTc p.G600V RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G468V|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G468V|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G331V NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 600 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.G600V(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCAACACTGGCCAAACCTCC 0.463000 190 170 7.07375e-107 1.45268e-106 0.048971 1 0 ZNF852 285346 broad.mit.edu 37 3 44541551 44541551 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:44541551C>A ENST00000436261.1 - 4 878 c.718G>T c.(718-720)Gag>Tag p.E240* ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 240 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.E240*(2)|p.E190*(1) endometrium(2)|kidney(1)|lung(5) 8 TAGGGTTTCTCCCCATTATGG 0.458000 10 8 1.76689e-08 2.22972e-08 0.058154 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 4 4 0 0 0.009096 0 0 PRAMEF19 645414 broad.mit.edu 37 1 13695833 13695833 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:13695833T>A ENST00000540591.1 - 3 1178 c.1132A>T c.(1132-1134)Aac>Tac p.N378Y PRAMEF19_ENST00000376101.2_Missense_Mutation_p.N309Y NM_001099790.1 NP_001093260.2 PRAME family member 19 p.N309Y(1) lung(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGGTGAGGTTGGAGCAGCGG 0.552000 4 97 0 0 0.021553 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814763 56814763 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:56814763T>A ENST00000229201.4 - 24 3175 c.3021A>T c.(3019-3021)caA>caT p.Q1007H TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q505H|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q1008H NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1008 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.Q1008H(1) NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GATGCAGGCTTTGACCAAGGT 0.498000 35 101 0 0 0.080422 0 0 THSD7A 221981 broad.mit.edu 37 7 11676130 11676130 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:11676130G>T ENST00000423059.3 - 2 900 c.649C>A c.(649-651)Cgg>Agg p.R217R NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 217 TSP type-1 2. integral to membrane p.R217R(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGACGCGTCCGGTGCTGGAGC 0.617000 HNSCC(18;0.044) 7 31 0.00198382 0.00213128 0.029380 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107459835 107459835 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:107459835G>A ENST00000409382.3 - 2 1209 c.599C>T c.(598-600)tCc>tTc p.S200F ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S200F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S200F NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 200 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.S200F(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GAAGGCCCTGGACATGGAGGA 0.612000 26 49 0 0 0.083992 0 0 ERAS 3266 broad.mit.edu 37 X 48687822 48687822 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:48687822G>A ENST00000338270.1 + 1 540 c.289G>A c.(289-291)Gca>Aca p.A97T NM_181532.2 NP_853510.1 Q7Z444 RASE_HUMAN ES cell expressed Ras 97 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity p.A97T(2) endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 GCTGGACACAGCAGGGCAGGC 0.602000 31 86 0 0 0.059317 0 0 KDM2B 84678 broad.mit.edu 37 12 122018777 122018777 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:122018777G>A ENST00000377071.4 - 1 112 c.40C>T c.(40-42)Ccc>Tcc p.P14S KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P14S|RP13-941N14.1_ENST00000541574.1_lincRNA NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 14 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding p.P14F(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TTTCGTGGGGGGTGATCCTCT 0.478000 82 82 0 0 0.048971 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287467 160287467 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:160287467G>A ENST00000392783.2 - 10 2596 c.2101C>T c.(2101-2103)Cca>Tca p.P701S BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P699S|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P701S NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.P701S(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GCAGAGCCTGGGGCTTTTGCT 0.463000 39 82 0 0 0.098360 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978982 148978982 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:148978982G>T ENST00000434415.1 + 6 1352 c.1189G>T c.(1189-1191)Ggg>Tgg p.G397W ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 397 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.G397W(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GCTGGAGCCGGGGGAGGTGGT 0.746000 8 14 3.86212e-05 4.4155e-05 0.069234 1 0 UGT2B15 7366 broad.mit.edu 37 4 69513061 69513061 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:69513061C>T ENST00000338206.5 - 6 1363 c.1354G>A c.(1354-1356)Gac>Aac p.D452N NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 452 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.D452Y(1)|p.D452N(1) ATTGGTTGGTCATGATGAATT 0.388000 33 114 0 0 0.059317 0 0 ZFP30 22835 broad.mit.edu 37 19 38126960 38126960 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:38126960C>A ENST00000351218.2 - 6 1039 c.482G>T c.(481-483)gGg>gTg p.G161V ZFP30_ENST00000392144.1_Missense_Mutation_p.G161V|ZFP30_ENST00000514101.2_Missense_Mutation_p.G161V|ZFP30_ENST00000589018.1_Intron NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G161V(2) autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCACATTCCCCACATTCGTA 0.393000 43 91 2.215e-12 3.12466e-12 0.042209 1 0 MUC5B 727897 broad.mit.edu 37 11 1269245 1269245 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:1269245C>A ENST00000447027.1 + 31 11202 c.11144C>A c.(11143-11145)cCg>cAg p.P3715Q RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P3712Q Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3712 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P3712Q(1)|p.P3691Q(1) 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) ACGGCCACCCCGTCCTCCACC 0.657000 34 67 4.64027e-19 7.48304e-19 0.048971 1 0 COL4A5 1287 broad.mit.edu 37 X 107935990 107935990 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107935990G>T ENST00000328300.6 + 50 4785 c.4541G>T c.(4540-4542)aGc>aTc p.S1514I COL4A5_ENST00000361603.2_Missense_Mutation_p.S1508I NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1508 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.S1508I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACGGCTGGCAGCTGCCTTCGT 0.408000 Alport syndrome with Diffuse Leiomyomatosis 14 85 1.3612e-06 1.61656e-06 0.024245 1 0 DOCK2 1794 broad.mit.edu 37 5 169474591 169474591 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:169474591C>A ENST00000256935.8 + 40 4124 c.4044C>A c.(4042-4044)taC>taA p.Y1348* DOCK2_ENST00000520908.1_Nonsense_Mutation_p.Y840*|DOCK2_ENST00000540750.1_Nonsense_Mutation_p.Y409*|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1348 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.Y1348*(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGGATACTACGGCCAGGGAT 0.522000 24 39 5.35356e-11 7.30985e-11 0.076483 1 0 DOCK2 1794 broad.mit.edu 37 5 169267762 169267762 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:169267762C>A ENST00000256935.8 + 27 2785 c.2703_splice c.e27-1 p.A902_splice DOCK2_ENST00000520908.1_Splice_Site_p.A394_splice|DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 902 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.A902D(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTTTTACAGGCCTTCACCTAC 0.493000 9 23 4.68919e-08 5.83104e-08 0.069234 1 0 PDZD8 118987 broad.mit.edu 37 10 119044378 119044378 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:119044378C>A ENST00000334464.5 - 5 2105 c.1866G>T c.(1864-1866)gtG>gtT p.V622V PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 622 Pro-rich. intracellular signal transduction metal ion binding p.V622V(1) kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GAGGTGGCACCACCTTCTCTG 0.483000 23 81 1.96895e-08 2.48061e-08 0.076483 1 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293805 71293805 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:71293805C>A ENST00000398530.1 - 1 116 c.79G>T c.(79-81)Ggc>Tgc p.G27C AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 27 keratin filament p.G27C(1) endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCCCCACAGCCAGAGCCACAG 0.642000 33 43 2.46105e-21 4.13414e-21 0.045705 1 0 CLDN2 9075 broad.mit.edu 37 X 106171518 106171518 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:106171518C>A ENST00000541806.1 + 2 579 c.60C>A c.(58-60)ggC>ggA p.G20G CLDN2_ENST00000336803.1_Silent_p.G20G|CLDN2_ENST00000540876.1_Silent_p.G20G NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 20 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.G20G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 GGCTTTTGGGCACACTGGTTG 0.557000 42 65 4.44401e-20 7.28932e-20 0.039052 1 0 SGCZ 137868 broad.mit.edu 37 8 13965682 13965682 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:13965682G>T ENST00000382080.1 - 6 1325 c.610C>A c.(610-612)Caa>Aaa p.Q204K SGCZ_ENST00000421524.2_Missense_Mutation_p.Q157K NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 191 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.Q204K(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CTGAGATCTTGGGATGGCTCT 0.438000 20 25 1.28384e-07 1.58106e-07 0.062417 1 0 TMEM144 55314 broad.mit.edu 37 4 159174649 159174649 + Silent SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:159174649A>G ENST00000296529.6 + 13 1528 c.1008A>G c.(1006-1008)ggA>ggG p.G336G TMEM144_ENST00000503404.1_3'UTR NM_018342.4 NP_060812.2 Q7Z5S9 TM144_HUMAN transmembrane protein 144 336 integral to membrane p.G336G(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TCTTGACTGGAGCCTTATGCA 0.393000 23 82 0 0 0.099896 0 0 PRMT10 90826 broad.mit.edu 37 4 148589703 148589703 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:148589703T>C ENST00000322396.6 - 6 1182 c.940A>G c.(940-942)Aga>Gga p.R314G PRMT10_ENST00000541232.1_Missense_Mutation_p.R201G|TMEM184C_ENST00000508208.1_Intron NM_138364.2 NP_612373.2 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 (putative) 314 cytoplasm binding|protein methyltransferase activity p.R314G(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 TGATGTCTTCTTATCTCTGCA 0.363000 21 34 0 0 0.099896 0 0 KCNH1 3756 broad.mit.edu 37 1 211192199 211192199 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:211192199C>A ENST00000271751.4 - 6 985 c.958G>T c.(958-960)Gcc>Tcc p.A320S KCNH1_ENST00000367007.4_Intron O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 320 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.A320S(1) 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) CCCATAAAGGCACTAACCTCA 0.473000 46 91 8.86878e-18 1.38926e-17 0.048971 1 0 RNF212 285498 broad.mit.edu 37 4 1066813 1066813 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:1066813G>A ENST00000433731.2 - 10 804 c.743C>T c.(742-744)aCc>aTc p.T248I RNF212_ENST00000382968.5_Silent_p.H230H Q495C1 RN212_HUMAN ring finger protein 212 248 zinc ion binding p.H230H(1)|p.T248I(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) TTTAGAGTTGGTGAGTTCCCC 0.527000 OREG0016028 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 38 0 0 0.093190 0 0 OR5P2 120065 broad.mit.edu 37 11 7818288 7818288 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7818288C>A ENST00000329434.2 - 1 232 c.202G>T c.(202-204)Gcc>Tcc p.A68S RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A68S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATGAATAGGCCATGTCAGCA 0.438000 53 59 2.17126e-26 3.82341e-26 0.048971 1 0 SLC22A12 116085 broad.mit.edu 37 11 64366303 64366303 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:64366303G>A ENST00000377574.1 + 6 1725 c.978G>A c.(976-978)gaG>gaA p.E326E SLC22A12_ENST00000473690.1_Silent_p.E105E|SLC22A12_ENST00000377567.2_Silent_p.E218E|SLC22A12_ENST00000336464.7_Silent_p.E292E|SLC22A12_ENST00000377572.1_Silent_p.E218E NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 326 Missing (affects urate transport). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity p.E326E(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CCATGCGGGAGGAGCTGAGCA 0.662000 9 44 0 0 0.069234 0 0 TNXB 7148 broad.mit.edu 37 6 32011608 32011608 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:32011608G>A ENST00000375244.3 - 35 11649 c.11448C>T c.(11446-11448)atC>atT p.I3816I TNXB_ENST00000375247.2_Silent_p.I3814I|TNXB_ENST00000451343.1_Silent_p.I245I P22105 TENX_HUMAN tenascin XB 3861 Fibronectin type-III 30. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.I245I(1)|p.I3881I(1)|p.I3816I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GAGCGCCTGGGATCAGCCCCT 0.627000 8 139 0 0 0.038147 0 0 STK39 27347 broad.mit.edu 37 2 168996894 168996894 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:168996894C>A ENST00000355999.4 - 7 1450 c.745G>T c.(745-747)Ggc>Tgc p.G249C NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 249 Protein kinase. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity p.G249C(2) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 AAGTCATAGCCTCTCACCTAA 0.413000 20 23 1.64113e-05 1.89609e-05 0.055883 1 0 UCK2 7371 broad.mit.edu 37 1 165876982 165876982 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:165876982G>T ENST00000367879.4 + 7 1011 c.708G>T c.(706-708)cgG>cgT p.R236R UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 236 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity p.R236L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCTCCAAACGGCAGACCAATG 0.622000 34 54 5.91797e-21 9.83332e-21 0.050027 1 0 NCAM2 4685 broad.mit.edu 37 21 22838976 22838976 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:22838976G>T ENST00000400546.1 + 13 1953 c.1704G>T c.(1702-1704)agG>agT p.R568S NCAM2_ENST00000284894.7_Missense_Mutation_p.R426S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 568 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane p.R568S(1) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATGAAATCAGGGTTGCAGCTG 0.299000 4 10 0.00909568 0.00957045 0.009096 1 0 KIAA0922 23240 broad.mit.edu 37 4 154548817 154548817 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:154548817C>T ENST00000409663.3 + 31 4234 c.4182C>T c.(4180-4182)ccC>ccT p.P1394P KIAA0922_ENST00000440693.1_Silent_p.P1311P|KIAA0922_ENST00000409959.3_Silent_p.P1395P NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1394 integral to membrane p.P1395P(1)|p.P1247P(1) breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CTGCCGGGCCCACAGGTGTTG 0.517000 5 18 0 0 0.038147 0 0 PAK7 57144 broad.mit.edu 37 20 9525048 9525048 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:9525048C>A ENST00000378429.3 - 9 2383 c.1837G>T c.(1837-1839)Gag>Tag p.E613* PAK7_ENST00000378423.1_Nonsense_Mutation_p.E613*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.E613* NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 613 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.E613*(1) 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) GAAATCACCTCAGGGGCCATC 0.502000 75 67 1.356e-25 2.38234e-25 0.048971 1 0 TP53BP1 7158 broad.mit.edu 37 15 43771676 43771676 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:43771676T>A ENST00000263801.3 - 7 944 c.692A>T c.(691-693)cAg>cTg p.Q231L TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q236L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q236L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q236L NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 231 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity p.Q231L(1) breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTTGCTGGACTGTTCTGCTAT 0.403000 Other conserved DNA damage response genes 79 100 0 0 0.048971 0 0 DNAH2 146754 broad.mit.edu 37 17 7638002 7638002 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:7638002T>C ENST00000572933.1 + 7 2414 c.954T>C c.(952-954)ttT>ttC p.F318F DNAH2_ENST00000570791.1_Silent_p.F318F|DNAH2_ENST00000082259.3_Silent_p.F318F|DNAH2_ENST00000389173.2_Silent_p.F318F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 318 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.F318F(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGCGCCCTTTATGAAACTGG 0.512000 17 49 0 0 0.038395 0 0 SPTA1 6708 broad.mit.edu 37 1 158607998 158607998 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158607998C>G ENST00000368148.3 - 36 5194 c.5014G>C c.(5014-5016)Gat>Cat p.D1672H SPTA1_ENST00000368147.3_Missense_Mutation_p.D1672H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1672 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.D1672H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAGAGCAAATCTTCAGCCAAT 0.418000 21 69 0 0 0.083992 0 0 ZNF157 7712 broad.mit.edu 37 X 47272883 47272883 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:47272883G>T ENST00000377073.3 + 4 1497 c.1411G>T c.(1411-1413)Gag>Tag p.E471* NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 471 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E471*(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GAGACCCTTTGAGTGTCAAGA 0.453000 18 31 1.00905e-13 1.45561e-13 0.049695 1 0 UGT3A2 167127 broad.mit.edu 37 5 36038112 36038112 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:36038112G>T ENST00000282507.3 - 6 1183 c.1082C>A c.(1081-1083)cCa>cAa p.P361Q UGT3A2_ENST00000545528.1_Missense_Mutation_p.P59Q|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P327Q NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 361 integral to membrane glucuronosyltransferase activity p.P361Q(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACGGATGCTTGGGTGAGCTGT 0.507000 11 49 0.00010058 0.0001133 0.093190 1 0 LAMA1 284217 broad.mit.edu 37 18 7008579 7008579 + Nonsense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:7008579T>A ENST00000389658.3 - 28 4123 c.4030A>T c.(4030-4032)Aga>Tga p.R1344* NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1344 Laminin IV type A 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 p.R1344*(1) 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) TCAGCCTTTCTGCCAACCTCC 0.443000 13 68 0 0 0.024245 0 0 GRIK2 2898 broad.mit.edu 37 6 102074407 102074407 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:102074407T>A ENST00000369138.1 + 3 926 c.436T>A c.(436-438)Tat>Aat p.Y146N GRIK2_ENST00000369137.3_Missense_Mutation_p.Y146N|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y146N|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y97N|GRIK2_ENST00000358361.3_Missense_Mutation_p.Y146N|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y146N|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y146N NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 146 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.Y146N(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGATTCCTTCTATGTCAGTCT 0.498000 25 35 0 0 0.091800 0 0 MRPL44 65080 broad.mit.edu 37 2 224828609 224828609 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:224828609G>A ENST00000258383.3 + 3 854 c.785G>A c.(784-786)gGt>gAt p.G262D NM_022915.3 NP_075066.1 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 262 DRBM. RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity p.G262D(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGCAGTCTGGTGGCACCACA 0.373000 34 37 0 0 0.080422 0 0 CUL4B 8450 broad.mit.edu 37 X 119694176 119694176 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:119694176G>T ENST00000371322.5 - 1 379 c.318C>A c.(316-318)acC>acA p.T106T CUL4B_ENST00000336592.6_Silent_p.T111T|CUL4B_ENST00000404115.3_Silent_p.T124T NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 124 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding p.T106T(1)|p.T124T(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAAACTCCAGGGTGTCTTCAA 0.537000 17 77 3.51602e-12 4.93273e-12 0.049695 1 0 CLSTN2 64084 broad.mit.edu 37 3 140277558 140277558 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:140277558C>A ENST00000458420.3 + 12 2090 c.1900C>A c.(1900-1902)Cgg>Agg p.R634R NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 634 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.R634R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CATCGAGCCCCGGATCACCCT 0.557000 HNSCC(16;0.037) 19 59 1.2644e-06 1.50627e-06 0.055883 1 0 CHST2 9435 broad.mit.edu 37 3 142840944 142840944 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:142840944T>A ENST00000309575.3 + 2 2670 c.1286T>A c.(1285-1287)gTg>gAg p.V429E NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 429 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity p.V429E(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 GAGGACCTGGTGGGAGACCCC 0.587000 19 21 0 0 0.055883 0 0 SERPINA5 5104 broad.mit.edu 37 14 95057199 95057199 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:95057199G>T ENST00000329597.7 + 5 1214 c.1004G>T c.(1003-1005)gGc>gTc p.G335V SERPINA5_ENST00000554866.1_Missense_Mutation_p.G335V|SERPINA5_ENST00000554276.1_Missense_Mutation_p.G335V|SERPINA5_ENST00000553780.1_Missense_Mutation_p.G335V NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 335 G -> R (in Ref. 1; AAA35688 and 9; AAB26244). fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.G335V(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GATCTGTCCGGCATCAGCAAC 0.488000 83 51 1.84514e-49 3.62405e-49 0.048971 1 0 CCDC93 54520 broad.mit.edu 37 2 118698795 118698795 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:118698795G>C ENST00000376300.2 - 19 1629 c.1492C>G c.(1492-1494)Cag>Gag p.Q498E CCDC93_ENST00000319432.5_Missense_Mutation_p.Q497E NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 498 p.Q498E(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 AATCTCTTCTGATACTGTATT 0.478000 40 79 0 0 0.045515 0 0 COL15A1 1306 broad.mit.edu 37 9 101797398 101797398 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:101797398C>A ENST00000375001.3 + 18 2605 c.2182C>A c.(2182-2184)Ccc>Acc p.P728T NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 728 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.P728T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) ACCCCCTGGGCCCCCAGGCCC 0.572000 15 43 4.7546e-09 6.11078e-09 0.028581 1 0 CNTN1 1272 broad.mit.edu 37 12 41337488 41337488 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:41337488G>T ENST00000551295.2 + 13 1586 c.1469G>T c.(1468-1470)aGa>aTa p.R490I CNTN1_ENST00000547849.1_Missense_Mutation_p.R490I|CNTN1_ENST00000547702.1_Missense_Mutation_p.R490I|CNTN1_ENST00000348761.2_Missense_Mutation_p.R479I|CNTN1_ENST00000360099.3_Missense_Mutation_p.R490I|CNTN1_ENST00000347616.1_Missense_Mutation_p.R490I NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 490 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.R490I(1) 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) GAAAATAACAGAGGGAAAGCT 0.348000 24 61 4.26978e-12 5.95747e-12 0.083992 1 0 POTEH 23784 broad.mit.edu 37 22 16287715 16287715 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:16287715G>T ENST00000343518.6 - 1 222 c.171C>A c.(169-171)ctC>ctA p.L57L NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 57 p.L57L(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCTTGCTCCTGAGTGTCTTCA 0.612000 80 534 3.17147e-52 6.32642e-52 0.048971 1 0 NOS1 4842 broad.mit.edu 37 12 117681107 117681107 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:117681107G>T ENST00000317775.6 - 19 3642 c.2957C>A c.(2956-2958)aCa>aAa p.T986K NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.T1020K NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 986 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 p.T986K(1) 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) GGTACCTTGTGTGAGTTCTGG 0.517000 34 40 3.33393e-15 4.96847e-15 0.074837 1 0 C7orf63 79846 broad.mit.edu 37 7 89900854 89900854 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:89900854A>T ENST00000389297.4 + 7 798 c.547A>T c.(547-549)Agt>Tgt p.S183C C7orf63_ENST00000316089.8_Missense_Mutation_p.S183C|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.S165C NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 183 binding p.S183C(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 CCAGCAAGCGAGTTCATCATA 0.323000 25 53 0 0 0.108266 0 0 ZP4 57829 broad.mit.edu 37 1 238053432 238053432 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:238053432C>A ENST00000366570.4 - 2 378 c.220G>T c.(220-222)Ggc>Tgc p.G74C RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 74 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.G74C(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ATCCAGGTGCCACAGTCGGAG 0.562000 17 65 5.35267e-07 6.45692e-07 0.043863 1 0 MAGEB10 139422 broad.mit.edu 37 X 27839829 27839829 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:27839829G>T ENST00000356790.2 + 3 651 c.406G>T c.(406-408)Gat>Tat p.D136Y NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 136 MAGE. p.D136Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 TACAAAGGCAGATATGCTGAG 0.443000 37 73 1.59932e-28 2.87578e-28 0.098360 1 0 CRYBB2 1415 broad.mit.edu 37 22 25627657 25627657 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:25627657C>A ENST00000398215.2 + 6 707 c.536C>A c.(535-537)gCc>gAc p.A179D NM_000496.2 NP_000487.1 P43320 CRBB2_HUMAN crystallin, beta B2 179 Beta/gamma crystallin 'Greek key' 4. response to stimulus|visual perception structural constituent of eye lens p.A179D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 10 GACTTTGGGGCCCCTCACCCC 0.652000 39 63 2.26627e-22 3.88359e-22 0.098360 1 0 MMP2 4313 broad.mit.edu 37 16 55519237 55519237 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:55519237G>C ENST00000219070.4 + 4 1065 c.556G>C c.(556-558)Ggt>Cgt p.G186R MMP2_ENST00000437642.2_Missense_Mutation_p.G136R|MMP2_ENST00000543485.1_Missense_Mutation_p.G110R|MMP2_ENST00000570308.1_Missense_Mutation_p.G110R NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 186 Collagenase-like 1. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.G186fs*16(1)|p.G186R(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) CCCCTTTGACGGTAAGGACGG 0.562000 33 61 0 0 0.064281 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136851 40136851 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:40136851T>C ENST00000278198.2 - 2 2955 c.992A>G c.(991-993)aAc>aGc p.N331S LRRC4C_ENST00000530763.1_Missense_Mutation_p.N331S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N331S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N331S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 331 LRRCT. regulation of axonogenesis integral to membrane protein binding p.N331S(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGAGGAGTGTTACACCGGGC 0.507000 17 19 0 0 0.028581 0 0 GRPR 2925 broad.mit.edu 37 X 16142118 16142118 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:16142118C>A ENST00000380289.2 + 1 440 c.42C>A c.(40-42)gaC>gaA p.D14E NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 14 cell proliferation integral to plasma membrane bombesin receptor activity p.D14E(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) TGGAGGTGGACCATTTCATGC 0.453000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 134 272 1.0049e-60 2.02035e-60 0.048971 1 0 SIGLEC6 946 broad.mit.edu 37 19 52023450 52023450 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:52023450G>T ENST00000346477.3 - 7 1268 c.1200C>A c.(1198-1200)ccC>ccA p.P400P SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000436458.1_Silent_p.P364P|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000425629.3_Silent_p.P416P NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 416 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus p.P389P(1)|p.P416P(1) endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTTCTGAGATGGGGCCAGCCT 0.507000 93 183 6.84326e-50 1.35101e-49 0.048971 1 0 PALLD 23022 broad.mit.edu 37 4 169632955 169632955 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:169632955C>T ENST00000335742.7 + 10 2056 c.699C>T c.(697-699)ccC>ccT p.P233P PALLD_ENST00000512127.1_Silent_p.P233P|PALLD_ENST00000261509.6_Silent_p.P615P|PALLD_ENST00000505667.1_Silent_p.P615P Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 615 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding p.P615P(1)|p.P233P(1) breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAGTCCATCCCAGCCGTGGAG 0.512000 Pancreatic Cancer, Familial Clustering of 15 39 0 0 0.020292 0 0 CTNNA2 1496 broad.mit.edu 37 2 79878763 79878763 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:79878763G>T ENST00000466387.1 + 6 805 c.81G>T c.(79-81)ctG>ctT p.L27L CTNNA2_ENST00000496558.1_Silent_p.L27L|CTNNA2_ENST00000361291.4_Silent_p.L61L|CTNNA2_ENST00000409266.1_Silent_p.L27L|CTNNA2_ENST00000402739.4_Silent_p.L27L|CTNNA2_ENST00000540488.1_Silent_p.L27L|CTNNA2_ENST00000541047.1_Silent_p.L27L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 27 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.L27L(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGGAAAGGCTGTTGGAGCCAC 0.423000 32 36 1.26612e-14 1.84733e-14 0.059317 1 0 RAB33A 9363 broad.mit.edu 37 X 129318489 129318489 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:129318489C>A ENST00000257017.4 + 2 903 c.489C>A c.(487-489)tcC>tcA p.S163S NM_004794.2 NP_004785.1 Q14088 RB33A_HUMAN RAB33A, member RAS oncogene family 163 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.S163S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5) 11 AGGTGCCCTCCAACTTAGCCC 0.517000 15 49 6.31663e-08 7.84204e-08 0.024245 1 0 TMPRSS11F 389208 broad.mit.edu 37 4 68938049 68938049 + Missense_Mutation SNP C C G rs150716612 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:68938049C>G ENST00000356291.2 - 5 565 c.506G>C c.(505-507)aGa>aCa p.R169T RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 169 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.R169T(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 ACGTGTGAGTCTAAATGATGG 0.284000 28 17 0 0 0.041601 0 0 DGKI 9162 broad.mit.edu 37 7 137341270 137341270 + Translation_Start_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:137341270C>A ENST00000453654.1 - 0 262 DGKI_ENST00000446122.1_Missense_Mutation_p.R208M|DGKI_ENST00000424189.2_Missense_Mutation_p.R208M|DGKI_ENST00000288490.5_Missense_Mutation_p.R208M O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.R208M(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TGCACACTTCCTCCTGAGAGC 0.418000 OREG0018350 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 121 2.88734e-31 5.30384e-31 0.048971 1 0 ABCB1 5243 broad.mit.edu 37 7 87135292 87135292 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:87135292A>G ENST00000265724.3 - 28 3974 c.3557T>C c.(3556-3558)aTa>aCa p.I1186T ABCB1_ENST00000543898.1_Missense_Mutation_p.I1122T|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1186 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.I1186T(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGCACGAGCTATGGCAATGCG 0.403000 41 84 0 0 0.111260 0 0 ZNF223 7766 broad.mit.edu 37 19 44570525 44570525 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44570525G>T ENST00000591793.1 + 7 957 c.874G>T c.(874-876)Gga>Tga p.G292* ZNF223_ENST00000434772.3_Nonsense_Mutation_p.G182* Q9UK11 ZN223_HUMAN zinc finger protein 223 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G182*(1) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TGATGAGTGTGGAAAAAGCTT 0.428000 65 168 4.96364e-44 9.6257e-44 0.048971 1 0 TRPC3 7222 broad.mit.edu 37 4 122853835 122853835 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:122853835G>A ENST00000264811.5 - 1 777 c.359C>T c.(358-360)gCc>gTc p.A120V TRPC3_ENST00000513531.1_Missense_Mutation_p.A120V|TRPC3_ENST00000379645.3_Missense_Mutation_p.A193V NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 108 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.A120V(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GTTGAGGATGGCCTCTACGAT 0.632000 23 11 0 0 0.062417 0 0 PSG9 5678 broad.mit.edu 37 19 43763045 43763045 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:43763045C>A ENST00000418820.2 - 3 771 c.673G>T c.(673-675)Ggc>Tgc p.G225C PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.G225C|PSG9_ENST00000270077.3_Missense_Mutation_p.G318C Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 225 Ig-like C2-type 1. female pregnancy extracellular region p.G318C(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CTGCGGAGGCCACCATATCGG 0.493000 64 105 6.20203e-27 1.09717e-26 0.048971 1 0 OR4C46 119749 broad.mit.edu 37 11 51515433 51515433 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:51515433C>A ENST00000328188.1 + 1 152 c.152C>A c.(151-153)cCa>cAa p.P51Q NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P51Q(2) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ACTGCCAGCCCATCACTGGGG 0.448000 86 107 1.55023e-36 2.93205e-36 0.048971 1 0 SPTBN2 6712 broad.mit.edu 37 11 66472300 66472300 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:66472300G>T ENST00000533211.1 - 15 2778 c.2447C>A c.(2446-2448)aCa>aAa p.T816K SPTBN2_ENST00000529997.1_Missense_Mutation_p.T816K|SPTBN2_ENST00000309996.2_Missense_Mutation_p.T816K O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 816 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton p.T816K(1) 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 GCGGCTCAGTGTGGGGGGCAG 0.716000 13 19 0.00010058 0.0001133 0.093190 1 0 POTEE 445582 broad.mit.edu 37 2 131984447 131984447 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:131984447G>A ENST00000356920.5 + 4 956 c.862G>A c.(862-864)Gtg>Atg p.V288M PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.V298M NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 288 ATP binding p.V288M(1)|p.V298M(1) ACAGCAAGTCGTGAAATTTTT 0.333000 29 129 0 0 0.086207 0 0 SNTG1 54212 broad.mit.edu 37 8 51664619 51664619 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:51664619G>C ENST00000522124.1 + 18 2004 c.1343G>C c.(1342-1344)aGc>aCc p.S448T SNTG1_ENST00000518864.1_Missense_Mutation_p.S448T|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 448 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.S448T(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GATGGCAAGAGCAAAATCAAA 0.358000 17 157 0 0 0.055883 0 0 OR2B11 127623 broad.mit.edu 37 1 247614730 247614730 + Silent SNP C C A rs140643495 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:247614730C>A ENST00000318749.6 - 1 578 c.555G>T c.(553-555)gtG>gtT p.V185V NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V185V(1) endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCACGGCCGGCACCTCACAGA 0.592000 6 12 0.0293803 0.030495 0.029380 1 0 TMTC1 83857 broad.mit.edu 37 12 29669326 29669326 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:29669326G>T ENST00000256062.5 - 15 2412 c.1939C>A c.(1939-1941)Cgc>Agc p.R647S TMTC1_ENST00000551659.1_Missense_Mutation_p.R817S|TMTC1_ENST00000552618.1_Missense_Mutation_p.R779S|TMTC1_ENST00000539277.1_Missense_Mutation_p.R755S|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 755 integral to membrane binding p.R647S(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GACAAGAGGCGATAGCATTCA 0.453000 31 72 2.70662e-09 3.51998e-09 0.041601 1 0 HOXD10 3236 broad.mit.edu 37 2 176982209 176982209 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:176982209G>A ENST00000249501.4 + 1 903 c.648G>A c.(646-648)gtG>gtA p.V216V HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 216 nucleus sequence-specific DNA binding p.V216V(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TCTCCCAGGTGGAGAGCCCCG 0.642000 3 26 0 0 0.004672 0 0 STAM 8027 broad.mit.edu 37 10 17737165 17737165 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:17737165T>A ENST00000377524.3 + 7 868 c.653T>A c.(652-654)aTa>aAa p.I218K STAM_ENST00000540523.1_Missense_Mutation_p.I107K NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 218 SH3. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity p.I218N(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 GTTCGTGCTATATATGACTTT 0.368000 44 67 0 0 0.042209 0 0 FAM189B 10712 broad.mit.edu 37 1 155220391 155220391 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:155220391G>A ENST00000361361.2 - 9 1695 c.1186C>T c.(1186-1188)Cca>Tca p.P396S FAM189B_ENST00000350210.2_Missense_Mutation_p.P300S|FAM189B_ENST00000368368.3_Missense_Mutation_p.P378S NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 396 integral to membrane WW domain binding p.P396S(1) breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 GCAGCCCGTGGGGGGCGCCGT 0.716000 8 15 0 0 0.069234 0 0 B4GALT5 9334 broad.mit.edu 37 20 48263586 48263586 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:48263586T>A ENST00000371711.4 - 3 467 c.280A>T c.(280-282)Acc>Tcc p.T94S NM_004776.3 NP_004767.1 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 94 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding p.T94S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) TGCAGGAAGGTTTCACTGTGG 0.443000 31 157 0 0 0.050027 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12908066 12908066 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:12908066A>G ENST00000317869.6 - 2 302 c.77T>C c.(76-78)cTt>cCt p.L26P NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.L26P(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CTTGACAACAAGAGTGTTGAG 0.448000 4 208 0 0 0.029380 0 0 PJA1 64219 broad.mit.edu 37 X 68381543 68381543 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:68381543G>A ENST00000361478.1 - 2 1916 c.1539C>T c.(1537-1539)ctC>ctT p.L513L PJA1_ENST00000374571.4_Silent_p.L458L|PJA1_ENST00000374583.1_Silent_p.L513L|PJA1_ENST00000374584.3_Silent_p.L325L NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 513 zinc ion binding p.L325L(1)|p.L513L(1) endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 ATCCATCAAAGAGGCTCCAAT 0.507000 26 117 0 0 0.083992 0 0 KIF14 9928 broad.mit.edu 37 1 200587437 200587437 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:200587437C>A ENST00000367350.4 - 2 853 c.415G>T c.(415-417)Gat>Tat p.D139Y NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 139 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding p.D139Y(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TTGACAGAATCTATTTCAGCT 0.348000 38 68 1.60099e-16 2.46256e-16 0.074837 1 0 IPO8 10526 broad.mit.edu 37 12 30816432 30816432 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:30816432G>C ENST00000256079.4 - 14 1923 c.1585C>G c.(1585-1587)Cag>Gag p.Q529E IPO8_ENST00000544829.1_Missense_Mutation_p.Q324E NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 529 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding p.Q529E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCTTGTATCTGGTTAGAAATT 0.378000 6 68 0 0 0.021553 0 0 SPAG17 200162 broad.mit.edu 37 1 118550797 118550797 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:118550797C>T ENST00000336338.5 - 31 4522 c.4457G>A c.(4456-4458)aGg>aAg p.R1486K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1486 cilium|flagellar axoneme|microtubule p.R1486K(1) 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) CTTCACCTGCCTGGTGACAGT 0.498000 10 26 0 0 0.069234 0 0 IPO5 3843 broad.mit.edu 37 13 98658478 98658478 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:98658478A>T ENST00000261574.5 + 17 1826 c.1646A>T c.(1645-1647)tAt>tTt p.Y549F IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.Y406F|IPO5_ENST00000490680.1_Missense_Mutation_p.Y531F NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 531 E -> K (in dbSNP:rs484770). interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding p.Y549F(1) breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GTCCCCTACTATGATTTATTT 0.388000 43 163 0 0 0.039052 0 0 JPH1 56704 broad.mit.edu 37 8 75227183 75227183 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:75227183T>A ENST00000342232.4 - 2 1092 c.1052A>T c.(1051-1053)aAa>aTa p.K351I NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 351 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane p.K351I(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTCCCTAGTTTTTGTATGTCT 0.438000 45 201 0 0 0.048971 0 0 ABCA11P 79963 broad.mit.edu 37 4 420484 420484 + RNA SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:420484T>C ENST00000451020.2 - 0 554 NR_002451.2 AACTTCACTTTTTAACACAAA 0.393000 24 48 0 0 0.076483 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 60 0 0 0.014758 0 0 C7orf34 135927 broad.mit.edu 37 7 142637544 142637544 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:142637544C>A ENST00000409607.3 + 2 355 c.314C>A c.(313-315)aCg>aAg p.T105K NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 80 extracellular region p.T105K(1)|p.T80K(1) large_intestine(1)|lung(4) 5 Melanoma(164;0.059) TCGTCCAAGACGGCAGCTGTT 0.532000 43 80 5.44703e-19 8.72892e-19 0.111260 1 0 HCFC1 3054 broad.mit.edu 37 X 153222985 153222985 + Splice_Site SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153222985C>T ENST00000310441.7 - 13 3100 c.e13-1 HCFC1_ENST00000369984.4_Splice_Site|HCFC1_ENST00000354233.3_Splice_Site NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.?(2) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCTTTGGTCTGAAAGGGGG 0.627000 31 31 0 0 0.034045 0 0 TNR 7143 broad.mit.edu 37 1 175375584 175375584 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:175375584C>T ENST00000367674.1 - 3 975 c.267G>A c.(265-267)caG>caA p.Q89Q TNR_ENST00000263525.2_Silent_p.Q89Q NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 89 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.Q89Q(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACTCACCTCCTGCTCAGCAG 0.547000 46 46 0 0 0.042209 0 0 PNP 4860 broad.mit.edu 37 14 20943064 20943064 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:20943064G>T ENST00000361505.5 + 4 564 c.418G>T c.(418-420)Ggt>Tgt p.G140C RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 140 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity p.G140C(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) CAACCTACCTGGTTTCAGTGG 0.483000 32 93 2.09667e-21 3.52977e-21 0.064281 1 0 RAD54L2 23132 broad.mit.edu 37 3 51679122 51679122 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:51679122C>T ENST00000409535.1 + 16 2658 c.2533C>T c.(2533-2535)Cag>Tag p.Q845* RAD54L2_ENST00000296477.3_Nonsense_Mutation_p.Q539* NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 845 Helicase C-terminal. nucleus ATP binding|DNA binding|helicase activity p.Q845*(1) NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCATGATGCCCAGGCAGTATG 0.488000 21 48 0 0 0.055883 0 0 SLAMF7 57823 broad.mit.edu 37 1 160709145 160709145 + Splice_Site SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:160709145A>T ENST00000368043.3 + 1 91 c.55_splice c.e1+1 p.T18_splice SLAMF7_ENST00000441662.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000444090.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000368042.3_Splice_Site_p.T18_splice|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000458104.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000458602.2_Splice_Site_p.T18_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.T18_splice NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 18 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity p.T18T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGCAGCTCACAGGTGAGTCCG 0.532000 48 65 0 0 0.048971 0 0 MAGED1 9500 broad.mit.edu 37 X 51641678 51641678 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:51641678G>T ENST00000375695.2 + 11 2104 c.1949_splice c.e11-1 p.V651_splice MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Splice_Site_p.V595_splice|MAGED1_ENST00000375772.3_Splice_Site_p.V595_splice|MAGED1_ENST00000326587.7_Splice_Site_p.V595_splice NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 595 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding p.V651L(1) breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TACCTTCAGGGTGAGACATCC 0.443000 Multiple Myeloma(10;0.10) 4 41 0.00909568 0.00957045 0.009096 1 0 TCL1A 8115 broad.mit.edu 37 14 96178706 96178706 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:96178706G>A ENST00000402399.1 - 2 277 c.148C>T c.(148-150)Ctc>Ttc p.L50F TCL1A_ENST00000554012.1_Missense_Mutation_p.L50F|TCL1A_ENST00000556450.1_Missense_Mutation_p.L50F|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.L50F|RP11-164H13.1_ENST00000547644.2_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 50 multicellular organismal development endoplasmic reticulum|microsome p.L50F(1) haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CGACGCAAGAGCACCCGTAAC 0.572000 T TRA@ T-CLL 17 135 0 0 0.038395 0 0 XIRP2 129446 broad.mit.edu 37 2 168101499 168101499 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:168101499C>A ENST00000409195.1 + 9 3686 c.3597C>A c.(3595-3597)agC>agA p.S1199R XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S977R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1199R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1024 actin cytoskeleton organization cell junction actin binding p.S1199R(1) 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 ATGTTTCCAGCATGAGGTATA 0.333000 23 31 2.70639e-06 3.17473e-06 0.069288 1 0 SLC10A3 8273 broad.mit.edu 37 X 153716929 153716929 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153716929G>T ENST00000263512.4 - 2 849 c.351C>A c.(349-351)atC>atA p.I117I SLC10A3_ENST00000393586.1_Silent_p.I172I|SLC10A3_ENST00000393587.4_Silent_p.I117I|SLC10A3_ENST00000369649.4_Silent_p.I117I NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 117 organic anion transport integral to membrane bile acid:sodium symporter activity p.I117I(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCACGTTCTTGATGGTCAGCA 0.637000 4 143 2.56e-06 3.00761e-06 0.009096 1 0 KL 9365 broad.mit.edu 37 13 33635064 33635064 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:33635064G>A ENST00000380099.3 + 4 1856 c.1848G>A c.(1846-1848)ctG>ctA p.L616L KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 616 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.L616L(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACACCATCCTGCAGTACTATC 0.587000 13 65 0 0 0.028581 0 0 FGF13 2258 broad.mit.edu 37 X 137939714 137939714 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:137939714C>A ENST00000441825.2 - 1 127 c.90G>T c.(88-90)ccG>ccT p.P30P FGF13_ENST00000370603.3_Silent_p.P59P|FGF13_ENST00000541469.1_Intron NM_001139501.1|NM_001139502.1 NP_001132973.1|NP_001132974.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 198 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity p.P59P(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CTTGCTTCAGCGGGCAGCAGA 0.433000 60 124 9.68594e-22 1.64147e-21 0.048971 1 0 AFF2 2334 broad.mit.edu 37 X 148072807 148072807 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:148072807T>A ENST00000370460.2 + 21 4360 c.3881T>A c.(3880-3882)gTc>gAc p.V1294D AFF2_ENST00000342251.3_Missense_Mutation_p.V1261D|AFF2_ENST00000370457.5_Missense_Mutation_p.V1259D|AFF2_ENST00000286437.5_Missense_Mutation_p.V935D NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1294 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.V1294D(2)|p.V935D(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) ACCAATCTTGTCCGCTACGTT 0.522000 93 136 0 0 0.048971 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931676 102931676 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:102931676C>A ENST00000423833.2 - 3 1505 c.280G>T c.(280-282)Gca>Tca p.A94S MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.A94S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000441076.2_Missense_Mutation_p.A94S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.A94S|MORF4L2_ENST00000360458.1_Missense_Mutation_p.A94S|MORF4L2_ENST00000422154.2_Missense_Mutation_p.A94S Q15014 MO4L2_HUMAN mortality factor 4 like 2 94 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding p.A94S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 GGCTGAGGTGCTTCGCTGGTA 0.537000 11 174 3.86212e-05 4.4155e-05 0.069234 1 0 ATM 472 broad.mit.edu 37 11 108183154 108183154 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:108183154G>T ENST00000278616.4 + 40 6320 c.5935G>T c.(5935-5937)Gaa>Taa p.E1979* ATM_ENST00000452508.2_Nonsense_Mutation_p.E1979*|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1979 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E1979*(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGCATTTGAAGAAGGAAGCCA 0.318000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 17 80 2.54575e-18 4.01243e-18 0.055883 1 0 RENBP 5973 broad.mit.edu 37 X 153209095 153209095 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153209095C>T ENST00000393700.3 - 5 445 c.365G>A c.(364-366)gGc>gAc p.G122D RENBP_ENST00000369997.3_Missense_Mutation_p.G108D|RENBP_ENST00000412763.1_Missense_Mutation_p.G122D NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 122 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity p.G112D(1)|p.G122D(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GACCGGGCGGCCGTCCCGAGT 0.612000 4 109 0 0 0.009096 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953809 161953809 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:161953809C>A ENST00000294794.3 - 8 2332 c.1909G>T c.(1909-1911)Gac>Tac p.D637Y OLFML2B_ENST00000367940.2_Missense_Mutation_p.D638Y|OLFML2B_ENST00000367938.1_Missense_Mutation_p.D120Y NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 637 Olfactomedin-like. p.D637Y(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCCTCATCGTCCAGGGCCGGG 0.637000 9 36 3.86212e-05 4.4155e-05 0.069234 1 0 SNRNP200 23020 broad.mit.edu 37 2 96945230 96945230 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:96945230C>A ENST00000323853.5 - 36 5169 c.5092G>T c.(5092-5094)Gat>Tat p.D1698Y SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1698 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.D1698Y(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CGCCCCTCATCGTCCTGCAAA 0.532000 9 16 7.48243e-07 8.96955e-07 0.058154 1 0 ITPR1 3708 broad.mit.edu 37 3 4695532 4695532 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:4695532C>T ENST00000354582.6 + 12 1308 c.958C>T c.(958-960)Cct>Tct p.P320S ITPR1_ENST00000302640.8_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.P320S|ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.P320S|ITPR1_ENST00000423119.2_Missense_Mutation_p.P320S|ITPR1_ENST00000443694.2_Intron Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 320 MIR 4. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding p.P320S(1) NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TCAGGTAGACCCTGACTTTGA 0.468000 9 11 0 0 0.058154 0 0 IL12RB2 3595 broad.mit.edu 37 1 67804386 67804386 + Splice_Site SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:67804386G>A ENST00000262345.1 + 8 1678 c.1038_splice c.e8+1 p.K346_splice IL12RB2_ENST00000544434.1_Splice_Site_p.K346_splice|IL12RB2_ENST00000371000.1_Splice_Site_p.K346_splice|IL12RB2_ENST00000541374.1_Splice_Site_p.K346_splice NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 346 Fibronectin type-III 3. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity p.K346K(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 TTTTCTGGAAGGTGAGTTTTA 0.368000 18 53 0 0 0.043863 0 0 COL1A2 1278 broad.mit.edu 37 7 94054961 94054961 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:94054961C>T ENST00000297268.6 + 43 3292 c.2821C>T c.(2821-2823)Caa>Taa p.Q941* NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 941 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging p.Q941*(1) COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCGCGATGGTCAACCCGGACA 0.483000 HNSCC(75;0.22) 21 38 0 0 0.076483 0 0 NAV3 89795 broad.mit.edu 37 12 78579461 78579461 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:78579461G>T ENST00000397909.2 + 31 5946 c.5773G>T c.(5773-5775)Ggc>Tgc p.G1925C NAV3_ENST00000228327.6_Missense_Mutation_p.G1903C|NAV3_ENST00000266692.7_Missense_Mutation_p.G1726C|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.G1903C Q8IVL0 NAV3_HUMAN neuron navigator 3 1925 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.G1903C(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATAAGCAAGGGCTATGGTCG 0.333000 HNSCC(70;0.22) 12 28 2.27111e-07 2.77459e-07 0.093190 1 0 JPH1 56704 broad.mit.edu 37 8 75227185 75227185 + Silent SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:75227185T>G ENST00000342232.4 - 2 1090 c.1050A>C c.(1048-1050)acA>acC p.T350T NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 350 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane p.T350T(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CCCTAGTTTTTGTATGTCTTA 0.443000 43 200 0 0 0.048971 0 0 ADGRG6 57211 broad.mit.edu 37 6 142725021 142725021 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:142725021G>C ENST00000230173.6 + 14 2514 c.2038G>C c.(2038-2040)Gct>Cct p.A680P GPR126_ENST00000296932.8_Missense_Mutation_p.A652P|GPR126_ENST00000367609.3_Missense_Mutation_p.A680P|GPR126_ENST00000367608.2_Missense_Mutation_p.A652P NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 680 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A680P(1)|p.A651P(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TCGGAACTTGGCTCTCAGCGT 0.368000 30 52 0 0 0.045705 0 0 TRPM2 7226 broad.mit.edu 37 21 45815319 45815319 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45815319C>A ENST00000397928.1 + 12 2262 c.1817C>A c.(1816-1818)tCc>tAc p.S606Y TRPM2_ENST00000397932.2_Missense_Mutation_p.S606Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.S586Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.S606Y NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 606 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.S606*(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGCCTCCGGTCCCTCTACAAG 0.627000 12 80 4.3838e-07 5.31328e-07 0.105934 1 0 PPM1L 151742 broad.mit.edu 37 3 160783208 160783208 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:160783208G>T ENST00000498165.1 + 3 693 c.592G>T c.(592-594)Gct>Tct p.A198S PPM1L_ENST00000464260.1_Missense_Mutation_p.A19S|PPM1L_ENST00000295839.9_Missense_Mutation_p.A71S|PPM1L_ENST00000480117.1_3'UTR NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 198 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.A198S(1)|p.A19S(1) breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) GTGTTTGATTGCTCTGCTATC 0.488000 24 72 7.92952e-12 1.10437e-11 0.091800 1 0 MCF2L2 23101 broad.mit.edu 37 3 182947468 182947468 + Nonsense_Mutation SNP G G T rs149684646 by1000genomes TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:182947468G>T ENST00000328913.3 - 17 2328 c.2031C>A c.(2029-2031)taC>taA p.Y677* MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.Y677*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.Y677* NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 677 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.Y677*(1) breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGTGAAATTCGTAAAGTTCTC 0.333000 41 71 1.22674e-20 2.03395e-20 0.104719 1 0 RIPK1 8737 broad.mit.edu 37 6 3105766 3105766 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:3105766C>G ENST00000259808.4 + 9 1355 c.1057C>G c.(1057-1059)Cct>Gct p.P353A RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.P307A|RIPK1_ENST00000380409.2_Missense_Mutation_p.P353A Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 353 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity p.P353A(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) TGGGATGGGTCCTGTGGAGGA 0.498000 6 299 0 0 0.021553 0 0 MXRA5 25878 broad.mit.edu 37 X 3228241 3228241 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:3228241C>G ENST00000217939.6 - 7 8157 c.8003G>C c.(8002-8004)cGt>cCt p.R2668P NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2668 Ig-like C2-type 11. extracellular region p.R2668P(2) 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) CCAGGAGAAACGTCCCTGCCC 0.597000 30 62 0 0 0.045705 0 0 TLR7 51284 broad.mit.edu 37 X 12905272 12905272 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:12905272T>A ENST00000380659.3 + 3 1784 c.1645T>A c.(1645-1647)Ttc>Atc p.F549I NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 549 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 p.F549I(1) 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) ATATTTGGACTTCTCCAACAA 0.388000 213 381 0 0 0.048971 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1895226 1895226 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:1895226G>T ENST00000357103.4 + 8 1400 c.1149G>T c.(1147-1149)gaG>gaT p.E383D NM_024551.2 NP_078827.2 Q86V24 ADR2_HUMAN adiponectin receptor 2 383 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity p.E383D(1) endometrium(1)|large_intestine(3)|lung(7)|stomach(1) 12 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) GCAGTGAAGAGGATGCACTGT 0.537000 27 65 1.42536e-11 1.9708e-11 0.099896 1 0 HIVEP3 59269 broad.mit.edu 37 1 42047134 42047134 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:42047134C>G ENST00000372584.1 - 3 4349 c.3335G>C c.(3334-3336)gGg>gCg p.G1112A HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1112A|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G1112A|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1112A NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1112 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G1112A(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CACAGTGGGCCCCAATGGGGG 0.632000 15 77 0 0 0.020292 0 0 GPR12 2835 broad.mit.edu 37 13 27333098 27333098 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:27333098G>T ENST00000405846.3 - 2 1088 c.867C>A c.(865-867)ccC>ccA p.P289P GPR12_ENST00000381436.2_Silent_p.P289P NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 289 integral to plasma membrane p.P289P(2) endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) TGTAGGTGGCGGGCAGGAGGG 0.522000 26 24 1.5548e-18 2.4607e-18 0.108266 1 0 CD72 971 broad.mit.edu 37 9 35618283 35618283 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:35618283G>T ENST00000396757.1 - 2 182 c.18C>A c.(16-18)acC>acA p.T6T CD72_ENST00000259633.4_Silent_p.T6T|CD72_ENST00000378430.3_Silent_p.T6T|CD72_ENST00000378431.1_Silent_p.T6T|CD72_ENST00000490239.1_5'UTR P21854 CD72_HUMAN CD72 molecule 6 axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity p.T6T(1) large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GATCTGCATAGGTGATGGCCT 0.582000 21 15 3.8784e-16 5.92986e-16 0.062417 1 0 GRIN2B 2904 broad.mit.edu 37 12 13724849 13724849 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:13724849G>T ENST00000279593.3 - 10 2269 c.2060C>A c.(2059-2061)cCc>cAc p.P687H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 687 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P687H(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTGCCGTTGGGCACGGTCCC 0.502000 13 36 1.61879e-10 2.17543e-10 0.093190 1 0 PCLO 27445 broad.mit.edu 37 7 82579765 82579765 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:82579765C>A ENST00000423517.2 - 6 10476 c.10139G>T c.(10138-10140)gGt>gTt p.G3380V PCLO_ENST00000437081.1_Missense_Mutation_p.G100V|PCLO_ENST00000333891.8_Missense_Mutation_p.G3380V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3311 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.G3380V(2)|p.G3311V(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGAGTAACACCATCAGACTG 0.438000 16 35 8.60227e-14 1.24327e-13 0.028581 1 0 ZNF423 23090 broad.mit.edu 37 16 49670060 49670060 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:49670060C>G ENST00000561648.1 - 4 3056 c.3003G>C c.(3001-3003)gaG>gaC p.E1001D ZNF423_ENST00000535559.1_Missense_Mutation_p.E884D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E884D|ZNF423_ENST00000562871.1_Missense_Mutation_p.E941D|ZNF423_ENST00000563137.2_Missense_Mutation_p.E941D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E941D|ZNF423_ENST00000262383.2_Missense_Mutation_p.E1001D NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1001 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.E1001D(2) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CAATAAACTCCTCCTCGCTCT 0.597000 4 18 0 0 0.014758 0 0 F8 2157 broad.mit.edu 37 X 154225253 154225253 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:154225253G>A ENST00000360256.4 - 3 583 c.383C>T c.(382-384)tCt>tTt p.S128F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 128 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.S128F(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTCACCCTCAGAAGCTTTCCA 0.423000 100 168 0 0 0.048971 0 0 FAM9B 171483 broad.mit.edu 37 X 9001045 9001045 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:9001045G>T ENST00000362066.3 - 1 306 c.118C>A c.(118-120)Cag>Aag p.Q40K FAM9B_ENST00000428477.1_5'UTR|FAM9B_ENST00000327220.5_5'UTR Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 0 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) GCCTCCAACTGGGCCTTGGCA 0.597000 16 33 1.02788e-11 1.42896e-11 0.033300 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101834447 101834447 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:101834447C>A ENST00000506729.1 - 1 273 c.102G>T c.(100-102)agG>agT p.R34S SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R34S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R34S|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R34S|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R34S Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 34 integral to membrane|plasma membrane transporter activity p.R34S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTCCCTTGGCCCTCCTGTCCT 0.607000 53 181 3.28156e-27 5.85937e-27 0.048971 1 0 LRRC15 131578 broad.mit.edu 37 3 194080236 194080236 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:194080236C>T ENST00000347624.3 - 2 1622 c.1537G>A c.(1537-1539)Gaa>Aaa p.E513K LRRC15_ENST00000428839.1_Missense_Mutation_p.E519K|LRRC15_ENST00000439944.2_Missense_Mutation_p.E519K NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 513 integral to membrane p.E513I(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GTGTAGTCTTCCACAGGGCTG 0.557000 20 38 0 0 0.055883 0 0 DHRS9 10170 broad.mit.edu 37 2 169938082 169938082 + Translation_Start_Site SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:169938082A>T ENST00000327239.4 + 0 1495 DHRS9_ENST00000432060.2_Silent_p.T57T|DHRS9_ENST00000436483.2_De_novo_Start_OutOfFrame|DHRS9_ENST00000421653.1_Intron|DHRS9_ENST00000412271.1_De_novo_Start_OutOfFrame|DHRS9_ENST00000428522.1_De_novo_Start_OutOfFrame|DHRS9_ENST00000357546.2_De_novo_Start_OutOfFrame|DHRS9_ENST00000602501.1_De_novo_Start_OutOfFrame NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TATCACACACAGGGGGAAAAA 0.388000 30 51 0 0 0.037714 0 0 EDAR 10913 broad.mit.edu 37 2 109545663 109545663 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:109545663C>T ENST00000409271.1 - 5 790 c.347G>A c.(346-348)tGc>tAc p.C116Y EDAR_ENST00000376651.1_Missense_Mutation_p.C116Y|EDAR_ENST00000258443.2_Missense_Mutation_p.C116Y Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 116 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity p.C116Y(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CCCAGGGAGGCAAGGGCCACA 0.607000 8 26 0 0 0.069234 0 0 KLHL1 57626 broad.mit.edu 37 13 70456619 70456619 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:70456619T>A ENST00000377844.4 - 5 1782 c.1023A>T c.(1021-1023)atA>atT p.I341I KLHL1_ENST00000545028.1_Silent_p.I148I NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 341 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.I341I(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TAACTTCCATTATGTTTTCCT 0.358000 4 27 0 0 0.014758 0 0 CTCFL 140690 broad.mit.edu 37 20 56098871 56098871 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:56098871G>T ENST00000426658.2 - 1 1052 c.391C>A c.(391-393)Cag>Aag p.Q131K CTCFL_ENST00000429804.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000423479.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000371196.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000422869.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000433949.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Missense_Mutation_p.Q131K|CTCFL_ENST00000243914.3_Missense_Mutation_p.Q131K|CTCFL_ENST00000432255.2_Missense_Mutation_p.Q131K Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 131 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 p.Q131K(1) 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) ACACACTGCTGCAGGCTCTGC 0.592000 17 119 5.03518e-11 6.88741e-11 0.043863 1 0 USP4 7375 broad.mit.edu 37 3 49343230 49343230 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:49343230C>A ENST00000351842.4 - 8 913 c.905G>T c.(904-906)gGg>gTg p.G302V USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.G349V NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 349 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.G349V(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TGCAATTTCCCCTTTCATCCC 0.458000 16 53 2.31682e-05 2.6687e-05 0.024245 1 0 OGDHL 55753 broad.mit.edu 37 10 50958893 50958893 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:50958893C>G ENST00000374103.4 - 7 973 c.888G>C c.(886-888)atG>atC p.M296I OGDHL_ENST00000419399.1_Missense_Mutation_p.M239I|OGDHL_ENST00000432695.1_Missense_Mutation_p.M87I NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 296 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.M296I(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 ACCTGTGTGGCATCCCCAAGA 0.572000 3 19 0 0 0.009096 0 0 LARP1B 55132 broad.mit.edu 37 4 129012285 129012285 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:129012285G>T ENST00000326639.6 + 6 699 c.488G>T c.(487-489)aGa>aTa p.R163I LARP1B_ENST00000441387.1_Missense_Mutation_p.R163I|LARP1B_ENST00000512292.1_Missense_Mutation_p.R163I|LARP1B_ENST00000264584.5_Missense_Mutation_p.R116I|LARP1B_ENST00000427266.1_Missense_Mutation_p.R163I|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000394288.3_Missense_Mutation_p.R163I|LARP1B_ENST00000432347.2_Missense_Mutation_p.R163I NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 163 Arg-rich. RNA binding p.R163I(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GGACGAGGCAGAGGAAATCCT 0.398000 18 167 1.67942e-08 2.12633e-08 0.038395 1 0 CRNN 49860 broad.mit.edu 37 1 152384671 152384671 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:152384671C>G ENST00000271835.3 - 2 101 c.39G>C c.(37-39)gaG>gaC p.E13D RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 13 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding p.E13D(1) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCTGAAGGCCTCGATGATCC 0.502000 5 143 0 0 0.014758 0 0 MYH1 4619 broad.mit.edu 37 17 10397671 10397671 + Splice_Site SNP C C T rs145273788 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:10397671C>T ENST00000226207.5 - 39 5761 c.5667_splice c.e39+1 p.A1889_splice CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1889 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.A1889A(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTGAACTCACCGCTTCTTCAG 0.443000 35 67 0 0 0.064281 0 0 CLSTN2 64084 broad.mit.edu 37 3 140251280 140251280 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:140251280C>A ENST00000458420.3 + 9 1649 c.1459C>A c.(1459-1461)Cat>Aat p.H487N NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 487 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding p.H487N(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CTGGCCCATTCATCCATCTCA 0.458000 HNSCC(16;0.037) 32 68 2.42023e-17 3.76044e-17 0.059317 1 0 LUM 4060 broad.mit.edu 37 12 91502248 91502248 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:91502248C>A ENST00000266718.4 - 2 963 c.509G>T c.(508-510)cGg>cTg p.R170L LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 170 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent p.R170L(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 CTCTTTCAGCCGATTGTGCTG 0.443000 28 109 5.61819e-17 8.694e-17 0.108266 1 0 KIAA2026 158358 broad.mit.edu 37 9 5968614 5968614 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:5968614C>T ENST00000399933.3 - 3 1616 c.1617G>A c.(1615-1617)caG>caA p.Q539Q KIAA2026_ENST00000381461.2_Silent_p.Q539Q NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 539 p.Q539Q(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AATTATTTTCCTGCTCTTTCT 0.363000 75 68 0 0 0.048971 0 0 SAMD4A 23034 broad.mit.edu 37 14 55243227 55243227 + Silent SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:55243227C>G ENST00000251091.5 + 9 2054 c.1749C>G c.(1747-1749)tcC>tcG p.S583S SAMD4A_ENST00000392067.3_Silent_p.S671S|SAMD4A_ENST00000555192.1_Silent_p.S262S|SAMD4A_ENST00000357634.3_Silent_p.S670S|SAMD4A_ENST00000554335.1_Silent_p.S671S NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 671 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity p.S670S(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 TGCACACTTCCCCACAGAACA 0.612000 59 279 0 0 0.048971 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409647 22409647 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:22409647C>A ENST00000390441.2 + 0 193 ACGTACACAGCCACAGGATAC 0.498000 27 31 1.13719e-10 1.54175e-10 0.037714 1 0 SOGA1 140710 broad.mit.edu 37 20 35444016 35444016 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:35444016T>G ENST00000237536.4 - 5 2170 c.1829A>C c.(1828-1830)cAg>cCg p.Q610P SOGA1_ENST00000456801.2_Missense_Mutation_p.Q213P|SOGA1_ENST00000357779.3_Missense_Mutation_p.Q372P|SOGA1_ENST00000279034.5_Missense_Mutation_p.Q372P NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 372 p.Q610P(3)|p.Q372P(1) endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CCGCGTACTCTGGCAGGAGGC 0.662000 3 14 0 0 0.004672 0 0 PLCE1 51196 broad.mit.edu 37 10 96018635 96018635 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:96018635C>A ENST00000260766.3 + 12 4267 c.3633C>A c.(3631-3633)agC>agA p.S1211R PLCE1_ENST00000371375.1_Missense_Mutation_p.S903R|PLCE1_ENST00000371380.2_Missense_Mutation_p.S1211R|PLCE1_ENST00000371385.3_Missense_Mutation_p.S903R NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1211 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.S1211R(1)|p.S903R(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TTTCAGATAGCAACATGAGTT 0.443000 14 56 0.000219431 0.000244664 0.020292 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912725 77912725 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:77912725G>T ENST00000321110.1 - 2 1488 c.1193C>A c.(1192-1194)cCc>cAc p.P398H NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 398 nucleic acid binding|zinc ion binding p.P398H(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TAATGGATTGGGATCAGGCTT 0.507000 71 67 6.5469e-37 1.24749e-36 0.048971 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50473649 50473649 + RNA SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:50473649G>C ENST00000602139.1 + 0 519 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.C165S(1) endometrium(2)|kidney(2)|lung(6) 10 ACGGTCATCTGTGTGTTTAAC 0.597000 12 26 0 0 0.034045 0 0 CAD 790 broad.mit.edu 37 2 27456644 27456644 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:27456644G>T ENST00000264705.4 + 21 3529 c.3367G>T c.(3367-3369)Gtg>Ttg p.V1123L CAD_ENST00000403525.1_Missense_Mutation_p.V1060L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1123 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.V1123L(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGAGCATCCCGTGGTCATCTC 0.587000 14 43 3.52763e-06 4.12544e-06 0.033300 1 0 CTPS1 1503 broad.mit.edu 37 1 41461722 41461722 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:41461722G>T ENST00000372621.4 + 8 1362 c.854G>T c.(853-855)tGg>tTg p.W285L CTPS1_ENST00000372616.1_Missense_Mutation_p.W285L|CTPS1_ENST00000543104.1_Missense_Mutation_p.W292L|CTPS1_ENST00000541520.1_Missense_Mutation_p.W54L NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 285 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding p.W285L(2) endometrium(3)|lung(10) 13 L-Glutamine(DB00130) CTGATGAAATGGAAAGAGATG 0.488000 9 37 2.17888e-05 2.51358e-05 0.058154 1 0 T 6862 broad.mit.edu 37 6 166574359 166574359 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:166574359C>A ENST00000296946.2 - 8 1468 c.1000G>T c.(1000-1002)Gtg>Ttg p.V334L T_ENST00000366871.3_Missense_Mutation_p.V276L NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 334 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity p.V334L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TTGTGGCTCACGGGGAGCATG 0.542000 Chordoma, Familial Clustering of 46 59 1.61004e-24 2.79657e-24 0.048971 1 0 GLRA2 2742 broad.mit.edu 37 X 14627195 14627195 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:14627195G>T ENST00000218075.4 + 7 1328 c.798G>T c.(796-798)ctG>ctT p.L266L GLRA2_ENST00000355020.4_Silent_p.L266L|GLRA2_ENST00000443437.2_Silent_p.L177L NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 266 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.L266L(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCCCAAGCCTGCTTATAGTAA 0.453000 58 132 3.7469e-33 6.96632e-33 0.048971 1 0 EPHB3 2049 broad.mit.edu 37 3 184290644 184290644 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:184290644G>T ENST00000330394.2 + 3 988 c.536G>T c.(535-537)cGc>cTc p.R179L EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 179 integral to plasma membrane ATP binding|ephrin receptor activity p.R179L(1) breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) ACCAAGGTGCGCAGCTTTGGG 0.602000 13 21 4.36969e-10 5.80101e-10 0.105934 1 0 TLR4 7099 broad.mit.edu 37 9 120476380 120476380 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:120476380G>T ENST00000355622.6 + 3 2075 c.1974G>T c.(1972-1974)ctG>ctT p.L658L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L618L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 658 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.L658L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATTTTCACCTGATGCTTCTTG 0.433000 14 31 3.27435e-08 4.0783e-08 0.020292 1 0 BRIP1 83990 broad.mit.edu 37 17 59760697 59760697 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:59760697G>A ENST00000259008.2 - 20 3977 c.3710C>T c.(3709-3711)tCt>tTt p.S1237F NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1237 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.S1237F(2) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TTTGGAAGGAGATGGTTTAAA 0.294000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 23 81 0 0 0.083992 0 0 JPH1 56704 broad.mit.edu 37 8 75227187 75227187 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:75227187T>A ENST00000342232.4 - 2 1088 c.1048A>T c.(1048-1050)Aca>Tca p.T350S NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 350 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane p.T350S(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTAGTTTTTGTATGTCTTATT 0.443000 52 201 0 0 0.048971 0 0 CUX2 23316 broad.mit.edu 37 12 111729244 111729244 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:111729244G>A ENST00000261726.6 + 5 478 c.324G>A c.(322-324)gcG>gcA p.A108A NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A108A(1) 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 TGTTTGAGGCGGCACGCAGCC 0.652000 11 93 0 0 0.080935 0 0 PTPRB 5787 broad.mit.edu 37 12 70983910 70983910 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:70983910G>T ENST00000334414.6 - 8 1928 c.1884C>A c.(1882-1884)atC>atA p.I628I PTPRB_ENST00000538708.1_Silent_p.I410I|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Silent_p.I410I|PTPRB_ENST00000551525.1_Silent_p.I627I|PTPRB_ENST00000550358.1_Silent_p.I628I|PTPRB_ENST00000550857.1_Intron NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 410 Fibronectin type-III 7. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.I410I(2)|p.I628I(1) 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) TGAAGAGTAGGATCCGATACT 0.512000 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 80 1.31131e-34 2.46191e-34 0.045515 1 0 SPTBN5 51332 broad.mit.edu 37 15 42168805 42168805 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:42168805T>A ENST00000320955.6 - 20 4119 c.3892A>T c.(3892-3894)Agg>Tgg p.R1298W NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1298 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin p.R1298W(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CCCTGGAGCCTGGTCCACTGT 0.662000 3 11 0 0 0.004672 0 0 FRY 10129 broad.mit.edu 37 13 32745165 32745165 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:32745165G>A ENST00000380250.3 + 18 2405 c.1909G>A c.(1909-1911)Gat>Aat p.D637N NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.D637N(1) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TATTCATATGGATGATGAATT 0.333000 55 62 0 0 0.048971 0 0 ZIC3 7547 broad.mit.edu 37 X 136652125 136652125 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:136652125G>T ENST00000287538.5 + 3 1850 c.1300G>T c.(1300-1302)Gct>Tct p.A434S ZIC3_ENST00000370606.3_Intron|ZIC3_ENST00000478471.1_3'UTR NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 434 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A434S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) ACCCGCTATAGCTTCTGCAAA 0.428000 94 167 1.42366e-38 2.73314e-38 0.048971 1 0 RCC1 1104 broad.mit.edu 37 1 28864429 28864429 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:28864429G>T ENST00000373833.6 + 13 1461 c.1176G>T c.(1174-1176)atG>atT p.M392I RCC1_ENST00000373831.3_Missense_Mutation_p.M423I|RCC1_ENST00000373832.1_Missense_Mutation_p.M392I|RCC1_ENST00000398958.2_Missense_Mutation_p.M392I P18754 RCC1_HUMAN regulator of chromosome condensation 1 392 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity p.M423I(1)|p.M392I(1) breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) TGGAGATGATGGGCAAACAGC 0.557000 11 10 1.58986e-06 1.88228e-06 0.069234 1 0 UNC13C 440279 broad.mit.edu 37 15 54817797 54817797 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:54817797T>C ENST00000545554.1 + 24 5508 c.5508T>C c.(5506-5508)agT>agC p.S1836S UNC13C_ENST00000537900.1_Silent_p.S1834S|UNC13C_ENST00000260323.11_Silent_p.S1836S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1836 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.S1836S(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTAAGCTCAGTGGGGTCCTGG 0.388000 5 9 0 0 0.021553 0 0 OTOF 9381 broad.mit.edu 37 2 26702462 26702462 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:26702462C>G ENST00000272371.2 - 17 2098 c.1972G>C c.(1972-1974)Gag>Cag p.E658Q OTOF_ENST00000403946.3_Missense_Mutation_p.E658Q NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 658 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.E658Q(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCCGGCTCCTTCCGGGGC 0.622000 24 36 0 0 0.108266 0 0 UNC80 285175 broad.mit.edu 37 2 210642131 210642131 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:210642131C>A ENST00000439458.1 + 4 528 c.448C>A c.(448-450)Cac>Aac p.H150N UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.H150N NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 150 integral to membrane p.H150N(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 TGCTTTCATCCACCAGGTTGA 0.552000 14 50 9.31168e-06 1.08236e-05 0.105934 1 0 SLC45A2 51151 broad.mit.edu 37 5 33947361 33947361 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:33947361C>A ENST00000382102.3 - 6 1332 c.1275G>T c.(1273-1275)ctG>ctT p.L425L SLC45A2_ENST00000296589.4_Silent_p.L425L|SLC45A2_ENST00000342059.3_Silent_p.L366L NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 425 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.L425L(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TGCACAGGACCAGGGTGGAGT 0.498000 71 109 7.59065e-32 1.40107e-31 0.048971 1 0 LILRB2 10288 broad.mit.edu 37 19 54783311 54783311 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:54783311C>T ENST00000391748.1 - 5 674 c.547G>A c.(547-549)Gtg>Atg p.V183M LILRB2_ENST00000391749.4_Missense_Mutation_p.V183M|LILRB2_ENST00000434421.1_Missense_Mutation_p.V67M|LILRB2_ENST00000391746.1_Missense_Mutation_p.V183M|LILRB2_ENST00000314446.5_Missense_Mutation_p.V183M NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 183 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.V183M(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACGGGGCCCACGGAGAAGATG 0.572000 8 85 0 0 0.058154 0 0 MAATS1 89876 broad.mit.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T rs139653997 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:119462963C>T ENST00000273390.5 + 14 1899 c.1822C>T c.(1822-1824)Cgg>Tgg p.R608W NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 p.R608W(1) GCGCCAGCGGCGGGTACGAGA 0.587000 18 45 0 0 0.049695 0 0 OR52A5 390054 broad.mit.edu 37 11 5153746 5153746 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:5153746C>T ENST00000307388.1 - 1 126 c.127G>A c.(127-129)Gga>Aga p.G43R NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43R(1)|p.G43*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGGAATTTCCAATCACACCA 0.403000 26 42 0 0 0.083992 0 0 LUZP2 338645 broad.mit.edu 37 11 24927594 24927594 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:24927594G>T ENST00000533227.1 + 6 483 c.196G>T c.(196-198)Gaa>Taa p.E66* LUZP2_ENST00000336930.6_Nonsense_Mutation_p.E152* NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 152 extracellular region p.E152*(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CATTCACGCAGAAGAGGTGAG 0.338000 13 21 9.31168e-06 1.08236e-05 0.105934 1 0 DMD 1756 broad.mit.edu 37 X 31462617 31462617 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:31462617G>T ENST00000357033.4 - 60 9271 c.9065C>A c.(9064-9066)aCc>aAc p.T3022N DMD_ENST00000474231.1_Missense_Mutation_p.T562N|DMD_ENST00000378677.2_Missense_Mutation_p.T3018N|DMD_ENST00000541735.1_Missense_Mutation_p.T562N|DMD_ENST00000343523.2_Missense_Mutation_p.T562N|DMD_ENST00000378707.3_Missense_Mutation_p.T562N|DMD_ENST00000359836.1_Missense_Mutation_p.T562N NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3022 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.T562N(1)|p.T3017N(1)|p.T1681N(1)|p.T3018N(1)|p.T3022N(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTCCATCTGGTGTTCAGGTC 0.413000 56 72 2.18419e-29 3.97409e-29 0.048971 1 0 CD1B 910 broad.mit.edu 37 1 158299405 158299405 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158299405C>T ENST00000368168.3 - 4 748 c.641G>A c.(640-642)aGt>aAt p.S214N NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 214 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.S214N(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGGTCCAGGACTGGGGCCACT 0.547000 4 97 0 0 0.009096 0 0 PON3 5446 broad.mit.edu 37 7 94991730 94991730 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:94991730G>A ENST00000265627.5 - 8 860 c.850C>T c.(850-852)Cat>Tat p.H284Y PON3_ENST00000427422.1_Intron|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 p.H284Y(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) GGATTAGGATGGCATCCTGCC 0.478000 10 24 0 0 0.105934 0 0 FLNA 2316 broad.mit.edu 37 X 153581773 153581773 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153581773G>C ENST00000422373.1 - 36 6137 c.5889C>G c.(5887-5889)atC>atG p.I1963M FLNA_ENST00000369856.3_Missense_Mutation_p.I104M|FLNA_ENST00000360319.4_Missense_Mutation_p.I1963M|FLNA_ENST00000369850.3_Missense_Mutation_p.I1971M|FLNA_ENST00000344736.4_Missense_Mutation_p.I1931M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1971 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.I1971M(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTTGATGGGGATGTCGGCAG 0.632000 34 65 0 0 0.064281 0 0 ADNP 23394 broad.mit.edu 37 20 49510039 49510039 + Silent SNP C C T rs139951165 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:49510039C>T ENST00000396029.3 - 5 1779 c.1212G>A c.(1210-1212)tcG>tcA p.S404S ADNP_ENST00000396032.3_Silent_p.S404S|ADNP_ENST00000349014.3_Silent_p.S404S|ADNP_ENST00000371602.4_Silent_p.S404S NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 404 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S404S(1) NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TTAACTGGCCCGATGAGAGAG 0.562000 8 119 0 0 0.038147 0 0 PIGV 55650 broad.mit.edu 37 1 27117369 27117369 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:27117369G>T ENST00000374145.1 + 2 745 c.63G>T c.(61-63)ctG>ctT p.L21L PIGV_ENST00000449950.2_5'UTR|PIGV_ENST00000078527.4_Silent_p.L21L NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 21 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity p.L21L(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) GCCGTATCCTGACTCTGATGC 0.547000 38 23 6.48837e-15 9.52124e-15 0.039052 1 0 BTBD11 121551 broad.mit.edu 37 12 108010922 108010922 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:108010922C>A ENST00000280758.5 + 8 2586 c.2058C>A c.(2056-2058)aaC>aaA p.N686K BTBD11_ENST00000420571.2_Missense_Mutation_p.N686K|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.N686K|BTBD11_ENST00000357167.4_Missense_Mutation_p.N223K NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 686 integral to membrane DNA binding p.N686K(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCGAGGAGAACTACTCGGAAA 0.612000 23 68 1.42536e-11 1.9708e-11 0.099896 1 0 ZC3H13 23091 broad.mit.edu 37 13 46559672 46559672 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:46559672C>T ENST00000242848.4 - 10 1828 c.1480G>A c.(1480-1482)Gat>Aat p.D494N ZC3H13_ENST00000282007.3_Missense_Mutation_p.D494N Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 494 Arg/Ser-rich. nucleic acid binding|zinc ion binding p.D494N(1) cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCTCTGGGATCACGGCTCTCT 0.507000 81 84 0 0 0.048971 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401268 11401268 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:11401268G>A ENST00000002596.5 - 2 1536 c.362C>T c.(361-363)cCc>cTc p.P121L NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 121 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.P121L(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GAAATACGCGGGGGTCTTCTC 0.612000 22 58 0 0 0.062417 0 0 NLRP13 126204 broad.mit.edu 37 19 56410252 56410252 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56410252G>T ENST00000588751.1 - 10 2865 c.2841C>A c.(2839-2841)gcC>gcA p.A947A NLRP13_ENST00000342929.3_Silent_p.A947A Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 947 ATP binding p.A947A(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TATGGCTGAGGGCATTAGCCA 0.438000 42 68 5.48756e-27 9.73026e-27 0.042209 1 0 KDM2B 84678 broad.mit.edu 37 12 122018776 122018776 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:122018776G>A ENST00000377071.4 - 1 113 c.41C>T c.(40-42)cCc>cTc p.P14L KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P14L|RP13-941N14.1_ENST00000541574.1_lincRNA NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 14 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding p.P14F(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TTTTCGTGGGGGGTGATCCTC 0.478000 81 83 0 0 0.048971 0 0 ATP11C 286410 broad.mit.edu 37 X 138908907 138908907 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:138908907A>T ENST00000370557.1 - 2 1130 c.103T>A c.(103-105)Tac>Aac p.Y35N ATP11C_ENST00000370543.1_Missense_Mutation_p.Y38N|ATP11C_ENST00000327569.3_Missense_Mutation_p.Y38N|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y38N|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y38N Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 38 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Y38N(2) breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGTGCAATGTAAGCTTCTGTT 0.363000 32 50 0 0 0.041601 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444219 5444219 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:5444219T>A ENST00000300778.4 + 1 879 c.789T>A c.(787-789)acT>acA p.T263T AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T263T(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATCTATGACTCATCGCTTTG 0.527000 55 52 0 0 0.048971 0 0 ISOC1 51015 broad.mit.edu 37 5 128440707 128440707 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:128440707A>T ENST00000173527.5 + 2 384 c.368A>T c.(367-369)cAg>cTg p.Q123L NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 123 peroxisome catalytic activity p.Q123L(1) kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) TGTGATATGCAGGAAAGGTTC 0.388000 20 67 0 0 0.055883 0 0 IRS4 8471 broad.mit.edu 37 X 107979482 107979482 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107979482G>T ENST00000372129.2 - 1 169 c.93C>A c.(91-93)acC>acA p.T31T NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 31 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.T31T(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GAAGCGGGGTGGTCACCACTG 0.642000 20 54 2.4624e-09 3.20782e-09 0.049695 1 0 THOC2 57187 broad.mit.edu 37 X 122840794 122840794 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:122840794G>T ENST00000245838.8 - 3 167 c.136C>A c.(136-138)Cag>Aag p.Q46K THOC2_ENST00000355725.4_Missense_Mutation_p.Q46K NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 46 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding p.Q46K(1) breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 AGAGCTTGCTGGAAATCTGTT 0.299000 6 22 0.00116845 0.00126595 0.021553 1 0 GPR101 83550 broad.mit.edu 37 X 136112902 136112902 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:136112902G>T ENST00000298110.1 - 1 931 c.932C>A c.(931-933)aCg>aAg p.T311K NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 311 integral to membrane|plasma membrane G-protein coupled receptor activity p.T311K(1) autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) GCTGGCCACCGTGCTGCTCTC 0.607000 122 184 9.48018e-61 1.911e-60 0.048971 1 0 MAST1 22983 broad.mit.edu 37 19 12963015 12963015 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:12963015C>A ENST00000251472.4 + 9 1002 c.963C>A c.(961-963)ccC>ccA p.P321P MAST1_ENST00000591495.1_Silent_p.P317P NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 321 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.P321P(2) NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGGACATCCCCCGCTACATCA 0.667000 51 27 7.47603e-22 1.27259e-21 0.048971 1 0 DBF4 10926 broad.mit.edu 37 7 87536811 87536811 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:87536811T>A ENST00000265728.1 + 12 1862 c.1358T>A c.(1357-1359)cTa>cAa p.L453Q NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 453 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding p.L453E(1) endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) CAGCTACCTCTACATAAAAAC 0.323000 16 26 0 0 0.043863 0 0 NXNL2 158046 broad.mit.edu 37 9 91150599 91150599 + Missense_Mutation SNP C C A rs146062765 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:91150599C>A ENST00000375855.3 + 1 580 c.250C>A c.(250-252)Cgc>Agc p.R84S NXNL2_ENST00000487646.2_3'UTR|NXNL2_ENST00000375854.3_Missense_Mutation_p.R84S NM_145283.2 NP_660326.2 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 84 Thioredoxin. p.R84S(2) lung(3) 3 GGACTTCATGCGCGAGCTGCA 0.726000 58 17 1.48873e-21 2.51736e-21 0.048971 1 0 NRXN2 9379 broad.mit.edu 37 11 64390268 64390268 + Missense_Mutation SNP G G T rs144512935 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:64390268G>T ENST00000265459.6 - 21 4591 c.4130C>A c.(4129-4131)aCg>aAg p.T1377K NRXN2_ENST00000301894.2_Missense_Mutation_p.T331K|NRXN2_ENST00000377551.1_Missense_Mutation_p.T1377K|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1370K|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1307K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1377 Poly-Thr. cell adhesion integral to membrane metal ion binding p.T331K(1)|p.T1377K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GCCCCGGCGCgtggtggtagt 0.662000 7 29 0.000157383 0.000175994 0.038147 1 0 SLC9B1 150159 broad.mit.edu 37 4 103911057 103911057 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:103911057T>A ENST00000296422.7 - 3 252 c.111A>T c.(109-111)aaA>aaT p.K37N SLC9B1_ENST00000394789.3_Missense_Mutation_p.K37N NM_139173.3 NP_631912.2 Q4ZJI4 NHDC1_HUMAN solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 37 integral to membrane solute:hydrogen antiporter activity p.K37N(1) ATAAGACAGTTTTAGTTTCTT 0.299000 6 23 0 0 0.029380 0 0 PASD1 139135 broad.mit.edu 37 X 150817161 150817161 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:150817161C>A ENST00000370357.4 + 9 949 c.704C>A c.(703-705)gCt>gAt p.A235D NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 235 Poly-Ala. nucleus signal transducer activity p.A235D(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) gctgctgctgctgctATCTCA 0.428000 63 99 4.09171e-25 7.17219e-25 0.048971 1 0 MYO7B 4648 broad.mit.edu 37 2 128322933 128322933 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:128322933G>T ENST00000389524.4 + 4 311 c.258G>T c.(256-258)ctG>ctT p.L86L MYO7B_ENST00000409816.2_Silent_p.L86L|MYO7B_ENST00000428314.1_Silent_p.L86L Q6PIF6 MYO7B_HUMAN myosin VIIB 86 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.L86P(2) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACAACCTCCTGATCCGCTACC 0.597000 16 30 9.16793e-09 1.16655e-08 0.033300 1 0 MYO7B 4648 broad.mit.edu 37 2 128322932 128322932 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:128322932T>C ENST00000389524.4 + 4 310 c.257T>C c.(256-258)cTg>cCg p.L86P MYO7B_ENST00000409816.2_Missense_Mutation_p.L86P|MYO7B_ENST00000428314.1_Missense_Mutation_p.L86P Q6PIF6 MYO7B_HUMAN myosin VIIB 86 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.L86P(2) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CACAACCTCCTGATCCGCTAC 0.597000 16 30 0 0 0.033300 0 0 ACAP1 9744 broad.mit.edu 37 17 7246801 7246801 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:7246801C>G ENST00000158762.3 + 6 654 c.448C>G c.(448-450)Cag>Gag p.Q150E ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 150 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding p.Q150E(1) NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GCGCCGGGCCCAGGAGGCAGA 0.672000 13 56 0 0 0.020292 0 0 PDGFRB 5159 broad.mit.edu 37 5 149515331 149515331 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:149515331C>A ENST00000261799.4 - 3 620 c.151G>T c.(151-153)Gtt>Ttt p.V51F NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 51 Ig-like C2-type 1. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity p.V51F(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CAGGTCAGAACGAAGGTGCTG 0.607000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 6 25 0.00116845 0.00126595 0.021553 1 0 MIER2 54531 broad.mit.edu 37 19 336131 336131 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:336131G>T ENST00000264819.4 - 2 62 c.52C>A c.(52-54)Ctc>Atc p.L18I MIER2_ENST00000592722.1_5'UTR NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L18I(1) endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) CTGTGCTCGAGGCAGGAGACC 0.657000 21 26 2.39556e-15 3.58399e-15 0.076483 1 0 HDX 139324 broad.mit.edu 37 X 83599332 83599332 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:83599332G>C ENST00000297977.5 - 6 1697 c.1586C>G c.(1585-1587)gCt>gGt p.A529G HDX_ENST00000373177.2_Missense_Mutation_p.A529G|HDX_ENST00000506585.2_Missense_Mutation_p.A471G NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 529 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A529G(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTCAGGCCCAGCTTCCTCTCC 0.453000 22 83 0 0 0.055883 0 0 RP2 6102 broad.mit.edu 37 X 46713296 46713296 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:46713296G>T ENST00000218340.3 + 2 649 c.488G>T c.(487-489)gGg>gTg p.G163V NM_006915.2 NP_008846.2 O75695 XRP2_HUMAN retinitis pigmentosa 2 (X-linked recessive) 163 C-CAP/cofactor C-like. cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding p.G163V(1) NS(1)|large_intestine(4)|lung(5)|stomach(1) 11 AAAGATGCAGGGCTAAGTATC 0.408000 49 82 1.63038e-21 2.75081e-21 0.048971 1 0 PTPRN2 5799 broad.mit.edu 37 7 158109546 158109546 + Missense_Mutation SNP C C A rs145815332 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:158109546C>A ENST00000389413.3 - 3 345 c.242G>T c.(241-243)cGc>cTc p.R81L PTPRN2_ENST00000389416.4_Missense_Mutation_p.R64L|PTPRN2_ENST00000389418.4_Missense_Mutation_p.R81L|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R104L NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 81 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R81L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CACGCGCAGGCGCTGCAGGGC 0.642000 15 18 1.5739e-10 2.12629e-10 0.028581 1 0 DPYS 1807 broad.mit.edu 37 8 105393434 105393434 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:105393434G>T ENST00000351513.2 - 9 1684 c.1552C>A c.(1552-1554)Cac>Aac p.H518N DPYS_ENST00000521601.1_5'UTR NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 518 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.H518N(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTCAGGGGTGGGCCTGTTTC 0.507000 85 108 9.37156e-40 1.80367e-39 0.048971 1 0 WNT16 51384 broad.mit.edu 37 7 120969762 120969762 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:120969762G>T ENST00000222462.2 + 2 527 c.237G>T c.(235-237)caG>caT p.Q79H WNT16_ENST00000361301.2_Missense_Mutation_p.Q69H NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 79 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity p.Q69H(1)|p.Q79H(1) breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) TGGGCATTCAGGAGTGCGGGA 0.652000 24 31 9.80776e-20 1.59846e-19 0.030593 1 0 PTPRB 5787 broad.mit.edu 37 12 70974892 70974892 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:70974892G>A ENST00000334414.6 - 10 2546 c.2502C>T c.(2500-2502)ggC>ggT p.G834G PTPRB_ENST00000538708.1_Silent_p.G616G|PTPRB_ENST00000451516.2_Silent_p.G526G|PTPRB_ENST00000261266.5_Silent_p.G616G|PTPRB_ENST00000551525.1_Silent_p.G833G|PTPRB_ENST00000550358.1_Silent_p.G834G|PTPRB_ENST00000550857.1_Silent_p.G526G NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 616 Fibronectin type-III 10. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G616G(2)|p.G834G(1) 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) AGTACAGGCTGCCGGACTTGA 0.458000 70 85 0 0 0.048971 0 0 SLFN5 162394 broad.mit.edu 37 17 33585721 33585721 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:33585721G>T ENST00000299977.4 + 2 160 c.12G>T c.(10-12)agG>agT p.R4S SLFN5_ENST00000592325.1_Missense_Mutation_p.R4S|SLFN5_ENST00000542451.1_Missense_Mutation_p.R4S NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 4 cell differentiation ATP binding p.R4S(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) TGAGTCTTAGGATTGATGTGG 0.463000 13 53 7.93312e-07 9.48014e-07 0.020292 1 0 TTC12 54970 broad.mit.edu 37 11 113235676 113235676 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:113235676G>C ENST00000529221.1 + 21 2041 c.1936G>C c.(1936-1938)Gac>Cac p.D646H TTC12_ENST00000314756.3_Missense_Mutation_p.D646H|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Missense_Mutation_p.D652H NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 646 binding p.D646H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) GCTAAAGACGGACCTTTTGCA 0.577000 16 44 0 0 0.024245 0 0 GAB1 2549 broad.mit.edu 37 4 144359508 144359508 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:144359508A>G ENST00000262995.4 + 4 1377 c.950A>G c.(949-951)tAt>tGt p.Y317C GAB1_ENST00000505913.1_Missense_Mutation_p.Y214C|GAB1_ENST00000262994.4_Missense_Mutation_p.Y317C NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 317 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity p.Y317C(1) breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) GGTAATACTTATCAGATTCCA 0.433000 16 113 0 0 0.024245 0 0 MTG2 26164 broad.mit.edu 37 20 60776117 60776117 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:60776117A>T ENST00000370823.3 + 7 1223 c.1205A>T c.(1204-1206)cAg>cTg p.Q402L MTG2_ENST00000436421.2_Missense_Mutation_p.Q244L|MTG2_ENST00000536470.1_Missense_Mutation_p.Q174L NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 p.Q402L(1) CAGGGCCGCCAGCCGCTCAGG 0.632000 4 14 0 0 0.021553 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332708 22332708 + RNA SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:22332708C>A ENST00000558896.1 + 0 515 GATGCCTGGCCCAGATCTACT 0.473000 4 35 1.23904e-05 1.43586e-05 0.014758 1 0 MUC2 4583 broad.mit.edu 37 11 1104231 1104231 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:1104231C>T ENST00000441003.2 + 49 8449 c.8422C>T c.(8422-8424)Cgg>Tgg p.R2808W NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 5170 inner mucus layer|outer mucus layer protein binding p.R2808W(1) 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) CCGCCGGGCCCGGCGCTCCCC 0.706000 3 12 0 0 0.009096 0 0 IMPG2 50939 broad.mit.edu 37 3 100963380 100963380 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:100963380C>T ENST00000193391.7 - 13 1982 c.1795G>A c.(1795-1797)Ggt>Agt p.G599S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 599 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity p.G599S(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCTAAACCACCGTCAAATATT 0.468000 28 121 0 0 0.050027 0 0 CCDC171 203238 broad.mit.edu 37 9 15971692 15971692 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:15971692C>A ENST00000380701.3 + 26 4167 c.3839C>A c.(3838-3840)cCa>cAa p.P1280Q CCDC171_ENST00000486641.2_Intron NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1280 p.P1280Q(1) GATTTCTTACCATTGAAAGCT 0.413000 14 225 7.93312e-07 9.48014e-07 0.020292 1 0 KIAA1407 57577 broad.mit.edu 37 3 113724429 113724429 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113724429T>A ENST00000295878.3 - 10 1940 c.1794A>T c.(1792-1794)gcA>gcT p.A598A KIAA1407_ENST00000545063.1_Silent_p.A429A NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 598 p.A598A(1) endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CTTCTGTGACTGCTAAGGCAT 0.493000 60 89 0 0 0.048971 0 0 LDB2 9079 broad.mit.edu 37 4 16597466 16597466 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:16597466T>C ENST00000502640.1 - 3 416 c.268A>G c.(268-270)Agc>Ggc p.S90G LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000304523.5_Missense_Mutation_p.S90G|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.S90G|LDB2_ENST00000515064.1_Missense_Mutation_p.S90G O43679 LDB2_HUMAN LIM domain binding 2 90 LIM domain binding|transcription cofactor activity p.S90G(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 AACACAGTGCTAAAGTAACGG 0.498000 4 37 0 0 0.014758 0 0 GABRQ 55879 broad.mit.edu 37 X 151821209 151821209 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:151821209C>A ENST00000370306.2 + 9 1384 c.1364C>A c.(1363-1365)tCc>tAc p.S455Y NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 455 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 p.S455Y(1) 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) GATCTCCCCTCCACCTCAGAG 0.597000 56 90 1.44317e-28 2.6011e-28 0.048971 1 0 CCDC14 64770 broad.mit.edu 37 3 123634422 123634422 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:123634422G>T ENST00000485727.1 - 9 6058 c.1466C>A c.(1465-1467)tCc>tAc p.S489Y CCDC14_ENST00000489746.1_Missense_Mutation_p.S489Y|CCDC14_ENST00000488653.2_Missense_Mutation_p.S689Y|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.S648Y|CCDC14_ENST00000310351.4_Missense_Mutation_p.S529Y Q49A88 CCD14_HUMAN coiled-coil domain containing 14 689 centrosome p.S529Y(1)|p.S648Y(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) GCTCATTATGGAAGTGTGAGC 0.388000 32 72 7.72975e-29 1.39976e-28 0.054565 1 0 OR5B12 390191 broad.mit.edu 37 11 58206722 58206722 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:58206722C>A ENST00000302572.2 - 1 924 c.903G>T c.(901-903)aaG>aaT p.K301N NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K301N(1) large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCCCTACAGTCTTTTTAAAGG 0.363000 22 31 1.9806e-07 2.43131e-07 0.069288 1 0 HMGB3 3149 broad.mit.edu 37 X 150156302 150156302 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:150156302C>A ENST00000325307.7 + 5 614 c.518C>A c.(517-519)gCt>gAt p.A173D HMGB3_ENST00000448905.2_Missense_Mutation_p.A173D NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 173 DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.A173D(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) AAGGGTCCTGCTAAAGTTGCC 0.443000 54 74 1.54886e-18 2.45637e-18 0.048971 1 0 SLC12A6 9990 broad.mit.edu 37 15 34530465 34530465 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:34530465T>A ENST00000354181.3 - 21 3262 c.2770A>T c.(2770-2772)Atg>Ttg p.M924L SLC12A6_ENST00000560611.1_Missense_Mutation_p.M924L|SLC12A6_ENST00000397707.2_Missense_Mutation_p.M909L|SLC12A6_ENST00000558589.1_Missense_Mutation_p.M915L|SLC12A6_ENST00000397702.2_Missense_Mutation_p.M865L|SLC12A6_ENST00000558667.1_Missense_Mutation_p.M924L|SLC12A6_ENST00000290209.5_Missense_Mutation_p.M873L|SLC12A6_ENST00000458406.2_Missense_Mutation_p.M865L|SLC12A6_ENST00000560164.1_Missense_Mutation_p.M736L|SLC12A6_ENST00000451844.2_Missense_Mutation_p.M736L Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 924 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity p.M873L(1)|p.M915L(1) 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) GGTAGTAGCATAAGCATCCCC 0.423000 21 44 0 0 0.083992 0 0 NLRP13 126204 broad.mit.edu 37 19 56424608 56424608 + Nonsense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56424608C>T ENST00000588751.1 - 5 599 c.575G>A c.(574-576)tGg>tAg p.W192* NLRP13_ENST00000342929.3_Nonsense_Mutation_p.W192* Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 192 ATP binding p.W192*(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GATGTTGTCCCATGTCTCCAG 0.443000 58 151 0 0 0.048971 0 0 POTEM 641455 broad.mit.edu 37 14 20020002 20020002 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:20020002C>A ENST00000551509.1 - 1 270 c.219G>T c.(217-219)agG>agT p.R73S NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 73 p.R73S(2) endometrium(4)|kidney(1)|lung(4) 9 TGCCGCTCCCCCTGCACCAGG 0.582000 111 386 1.56149e-49 3.07482e-49 0.048971 1 0 TP53BP1 7158 broad.mit.edu 37 15 43771675 43771675 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:43771675C>T ENST00000263801.3 - 7 945 c.693G>A c.(691-693)caG>caA p.Q231Q TP53BP1_ENST00000382039.3_Silent_p.Q236Q|TP53BP1_ENST00000450115.2_Silent_p.Q236Q|TP53BP1_ENST00000382044.4_Silent_p.Q236Q NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 231 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity p.Q231L(1) breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CCTTGCTGGACTGTTCTGCTA 0.403000 Other conserved DNA damage response genes 80 100 0 0 0.048971 0 0 WNK3 65267 broad.mit.edu 37 X 54337611 54337611 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:54337611T>C ENST00000354646.2 - 3 1089 c.651A>G c.(649-651)ttA>ttG p.L217L WNK3_ENST00000375159.2_Silent_p.L217L|WNK3_ENST00000375169.3_Silent_p.L217L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 217 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.L217L(1) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TCTTTCCTTTTAATATAGATT 0.383000 32 31 0 0 0.041601 0 0 MICAL3 57553 broad.mit.edu 37 22 18301459 18301459 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:18301459A>C ENST00000441493.2 - 26 4320 c.3968T>G c.(3967-3969)cTg>cGg p.L1323R NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1323 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.L1323R(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTCCTCCACCAGGTCGCTCCG 0.657000 22 65 0 0 0.083992 0 0 RELN 5649 broad.mit.edu 37 7 103151433 103151433 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:103151433G>T ENST00000424685.2 - 51 8298 c.8139C>A c.(8137-8139)ttC>ttA p.F2713L CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.F2713L|RELN_ENST00000343529.5_Missense_Mutation_p.F2713L P78509 RELN_HUMAN reelin 2713 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.F2713_H2714>LD(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATCATCATGGAATAGCCAGT 0.388000 11 35 6.40141e-05 7.29685e-05 0.080935 1 0 WDR52 55779 broad.mit.edu 37 3 113084979 113084979 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:113084979C>A ENST00000393845.2 - 19 2688 c.2622G>T c.(2620-2622)gtG>gtT p.V874V WDR52_ENST00000295868.2_Silent_p.V874V NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 874 p.V22V(1)|p.V874V(1) breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CTCCAGCAGTCACCAAGAAAC 0.373000 18 69 1.56452e-12 2.21112e-12 0.043863 1 0 PPP6R1 22870 broad.mit.edu 37 19 55753604 55753604 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:55753604C>A ENST00000412770.2 - 7 1341 c.775G>T c.(775-777)Gag>Tag p.E259* PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.E259* NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 259 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding p.E259*(1) breast(1) 1 TGGCTCTGCTCCCCCTCGAAC 0.652000 49 90 9.55421e-19 1.52787e-18 0.048971 1 0 SULT1B1 27284 broad.mit.edu 37 4 70620409 70620409 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:70620409G>T ENST00000310613.2 - 3 553 c.256C>A c.(256-258)Ctc>Atc p.L86I NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 86 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol p.L86I(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 AATCCAGGGAGAGTCATTTCC 0.303000 11 77 0.000151284 0.000169918 0.105934 1 0 NRXN3 9369 broad.mit.edu 37 14 79181120 79181120 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:79181120G>T ENST00000554719.1 + 5 1054 c.563G>T c.(562-564)aGg>aTg p.R188M NRXN3_ENST00000335750.5_Missense_Mutation_p.R188M NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 194 Laminin G-like. angiogenesis|cell adhesion integral to membrane p.R188M(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTGAACAGCAGGCGCACGCCA 0.552000 98 295 1.45855e-51 2.90194e-51 0.048971 1 0 NOLC1 9221 broad.mit.edu 37 10 103919024 103919024 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:103919024G>T ENST00000405356.1 + 6 917 c.682G>T c.(682-684)Gat>Tat p.D228Y NOLC1_ENST00000488254.2_Missense_Mutation_p.D229Y|NOLC1_ENST00000605788.1_Missense_Mutation_p.D228Y|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 228 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding p.D228Y(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) cagtagcagTGATGACTCAGA 0.522000 44 59 7.53189e-24 1.30235e-23 0.098360 1 0 SLC24A5 283652 broad.mit.edu 37 15 48427124 48427124 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:48427124C>G ENST00000341459.3 + 5 606 c.533C>G c.(532-534)gCg>gGg p.A178G SLC24A5_ENST00000449382.2_Missense_Mutation_p.A118G NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 178 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.A178G(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GACTGTGCAGCGTACACAATT 0.333000 18 39 0 0 0.062417 0 0 PRR21 643905 broad.mit.edu 37 2 240982289 240982289 + Missense_Mutation SNP G G T rs71420284 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:240982289G>T ENST00000408934.1 - 1 110 c.111C>A c.(109-111)caC>caA p.H37Q NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 37 p.H37Q(2) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 AGGGCCATGGGTGAAGAGCCG 0.572000 6 9 8.12818e-05 9.22398e-05 0.029380 1 0 BTAF1 9044 broad.mit.edu 37 10 93776187 93776187 + Nonsense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:93776187A>T ENST00000265990.6 + 33 4983 c.4675A>T c.(4675-4677)Aaa>Taa p.K1559* BTAF1_ENST00000544642.1_Nonsense_Mutation_p.K387* NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1559 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.K1559*(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGAAACTGAAAAACCAAAGCT 0.368000 13 49 0 0 0.105934 0 0 SLC6A5 9152 broad.mit.edu 37 11 20668432 20668432 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:20668432C>A ENST00000525748.1 + 14 2295 c.2022C>A c.(2020-2022)aaC>aaA p.N674K SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 674 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.N674K(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) TCCAGCCTAACATCTTCTGGA 0.428000 31 38 2.47316e-13 3.54101e-13 0.059317 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128993 248128993 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248128993G>T ENST00000366480.3 + 1 459 c.360G>T c.(358-360)ttG>ttT p.L120F OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L120F(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATGTGTTCTTGGCCCTTGGTG 0.443000 59 203 2.53126e-37 4.83528e-37 0.048971 1 0 NINL 22981 broad.mit.edu 37 20 25485607 25485607 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:25485607C>A ENST00000278886.6 - 6 698 c.625G>T c.(625-627)Ggg>Tgg p.G209W NINL_ENST00000422516.1_Missense_Mutation_p.G209W NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 209 EF-hand 3. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding p.G209W(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CTGCCCACCCCCAGCTCTTCC 0.657000 12 35 7.03913e-09 8.98662e-09 0.093190 1 0 SAMD7 344658 broad.mit.edu 37 3 169637321 169637321 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:169637321A>T ENST00000428432.2 + 3 424 c.35A>T c.(34-36)cAg>cTg p.Q12L SAMD7_ENST00000335556.3_Missense_Mutation_p.Q12L NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 12 p.Q12L(1) 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) CCAACAGGGCAGCAGACAATC 0.433000 30 51 0 0 0.041601 0 0 KAL1 3730 broad.mit.edu 37 X 8503631 8503631 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:8503631C>A ENST00000262648.3 - 12 1992 c.e12+1 KAL1_ENST00000481896.1_5'UTR NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity p.?(1) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GTGGGACCTACGGAAGGCAGG 0.493000 12 33 1.08611e-07 1.34187e-07 0.080935 1 0 OR2W3 343171 broad.mit.edu 37 1 248059435 248059435 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:248059435G>T ENST00000537741.1 + 3 804 c.547G>T c.(547-549)Gcc>Tcc p.A183S OR2W3_ENST00000360358.3_Missense_Mutation_p.A183S Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A183S(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGAGATGCCCGCCCTGATCCG 0.637000 13 39 2.41591e-17 3.76044e-17 0.099896 1 0 IGJ 3512 broad.mit.edu 37 4 71532144 71532144 + Splice_Site SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:71532144C>G ENST00000254801.4 - 1 233 c.64_splice c.e1+1 p.A22_splice IGJ_ENST00000543780.1_Splice_Site_p.G22_splice|ENAM_ENST00000472903.1_Intron NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 22 immune response extracellular region antigen binding p.A22P(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) TATCACATACCTTTCACATGA 0.363000 23 36 0 0 0.099896 0 0 DPYSL4 10570 broad.mit.edu 37 10 134006275 134006275 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:134006275T>A ENST00000338492.4 + 3 406 c.242T>A c.(241-243)cTg>cAg p.L81Q DPYSL4_ENST00000368629.1_Missense_Mutation_p.L4Q|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.L4Q NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 81 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.L81Q(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ATGCCTGTCCTGGGCATGACA 0.602000 17 48 0 0 0.049695 0 0 KRT84 3890 broad.mit.edu 37 12 52778922 52778922 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:52778922G>A ENST00000257951.3 - 1 514 c.448C>T c.(448-450)Ctc>Ttc p.L150F RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 150 Head. keratin filament structural constituent of epidermis p.L150I(1)|p.L150F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCCAGGTTGAGGGGGGTCAGT 0.527000 18 307 0 0 0.049695 0 0 HCFC1 3054 broad.mit.edu 37 X 153217335 153217335 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:153217335C>A ENST00000310441.7 - 20 6183 c.5217G>T c.(5215-5217)acG>acT p.T1739T HCFC1_ENST00000369984.4_Silent_p.T1784T|HCFC1_ENST00000354233.3_Silent_p.T1670T NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1739 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.T1739T(1)|p.T1642T(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTGGGGACCGTGCCGGCCA 0.652000 15 17 0.0438628 0.0453426 0.043863 1 0 CCDC80 151887 broad.mit.edu 37 3 112358661 112358661 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:112358661C>A ENST00000206423.3 - 2 1045 c.92G>T c.(91-93)gGc>gTc p.G31V CCDC80_ENST00000439685.2_Missense_Mutation_p.G31V|CCDC80_ENST00000475181.1_5'UTR NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 31 p.G31V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TCCGTGGCTGCCTCTAATAGT 0.552000 17 44 5.35267e-07 6.45692e-07 0.043863 1 0 TRIM29 23650 broad.mit.edu 37 11 119996462 119996462 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:119996462C>A ENST00000341846.5 - 4 1691 c.1270G>T c.(1270-1272)Gtt>Ttt p.V424F TRIM29_ENST00000529044.1_Missense_Mutation_p.V163F|TRIM29_ENST00000541857.1_Missense_Mutation_p.V157F NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 424 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V424F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) ATCTTCTCAACGTGGCGCATG 0.592000 17 28 2.48551e-13 3.54543e-13 0.033300 1 0 TTN 7273 broad.mit.edu 37 2 179459155 179459155 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:179459155C>A ENST00000589042.1 - 296 58290 c.58066G>T c.(58066-58068)Gag>Tag p.E19356* TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E10483*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E10416*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E10291*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E16788*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E17715*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17715 Fibronectin type-III 40. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E16788*(1)|p.E10483*(1)|p.E10291*(1)|p.E10416*(1)|p.E16786*(1) 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) ACACGGTACTCATAGGTATCA 0.413000 17 86 2.35188e-11 3.22857e-11 0.038395 1 0 GDF10 2662 broad.mit.edu 37 10 48428949 48428949 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:48428949C>A ENST00000224605.2 - 2 1202 c.937G>T c.(937-939)Gcc>Tcc p.A313S NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 313 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.A313S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 TGTGCGTGGGCGCGCGGCGGC 0.721000 14 13 0.0202918 0.0212053 0.020292 1 0 PCLO 27445 broad.mit.edu 37 7 82582433 82582433 + Silent SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:82582433A>G ENST00000423517.2 - 5 8173 c.7836T>C c.(7834-7836)gaT>gaC p.D2612D PCLO_ENST00000333891.8_Silent_p.D2612D NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2543 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.D2612D(2)|p.D2543D(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGAAACCAGATCTTTGGAGG 0.433000 74 96 0 0 0.048971 0 0 WDR63 126820 broad.mit.edu 37 1 85547062 85547062 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:85547062A>T ENST00000294664.6 + 4 429 c.249A>T c.(247-249)gcA>gcT p.A83A WDR63_ENST00000370596.1_Silent_p.A83A|WDR63_ENST00000326813.8_Silent_p.A83A NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 83 p.A83A(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) ACAGAGCTGCAGTATCTGATT 0.363000 26 74 0 0 0.034045 0 0 DDC 1644 broad.mit.edu 37 7 50607692 50607692 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:50607692T>A ENST00000444124.2 - 3 436 c.236A>T c.(235-237)tAc>tTc p.Y79F DDC_ENST00000357936.5_Missense_Mutation_p.Y79F|DDC_ENST00000380984.4_Missense_Mutation_p.Y79F|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Missense_Mutation_p.Y79F NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 79 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding p.Y79F(2) breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AGTGGGGAAGTAGGCGAAGAA 0.642000 41 19 0 0 0.045515 0 0 MROH2B 133558 broad.mit.edu 37 5 41019043 41019043 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:41019043G>T ENST00000399564.4 - 25 2969 c.2519C>A c.(2518-2520)cCa>cAa p.P840Q MROH2B_ENST00000506092.2_Missense_Mutation_p.P395Q NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.P840Q(1) TTCCAGAGGTGGAAGGGGCAG 0.478000 11 30 7.03913e-09 8.98662e-09 0.093190 1 0 NLGN3 54413 broad.mit.edu 37 X 70389915 70389915 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:70389915C>A ENST00000374051.3 + 7 2777 c.2455C>A c.(2455-2457)Ctg>Atg p.L819M NLGN3_ENST00000536169.1_Missense_Mutation_p.L799M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L839M|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 839 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity p.L839M(1)|p.L819M(1) biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CAGTACCGGGCTGCCCCACTC 0.572000 7 24 0.00198382 0.00213128 0.029380 1 0 TRPM2 7226 broad.mit.edu 37 21 45815320 45815320 + Silent SNP C C A rs144976050 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45815320C>A ENST00000397928.1 + 12 2263 c.1818C>A c.(1816-1818)tcC>tcA p.S606S TRPM2_ENST00000397932.2_Silent_p.S606S|TRPM2_ENST00000300481.9_Silent_p.S586S|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.S606S NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 606 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.S606*(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCCTCCGGTCCCTCTACAAGC 0.622000 12 82 4.3838e-07 5.31328e-07 0.105934 1 0 OR4N5 390437 broad.mit.edu 37 14 20612049 20612049 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:20612049A>T ENST00000333629.1 + 1 155 c.155A>T c.(154-156)gAc>gTc p.D52V NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D52V(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATAAAGTCAGACCCTGGGCTC 0.463000 104 342 0 0 0.048971 0 0 DSG2 1829 broad.mit.edu 37 18 29099836 29099836 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:29099836G>T ENST00000261590.8 + 3 361 c.152G>T c.(151-153)tGg>tTg p.W51L DSG2_ENST00000585206.1_Missense_Mutation_p.W51L NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 51 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.W51L(1) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AAGCGCGCCTGGATCACCGCC 0.433000 95 41 9.15355e-43 1.77061e-42 0.048971 1 0 ZNF227 7770 broad.mit.edu 37 19 44739572 44739572 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44739572G>T ENST00000313040.7 + 6 1194 c.989G>T c.(988-990)gGc>gTc p.G330V ZNF227_ENST00000589005.1_Missense_Mutation_p.G279V|ZNF227_ENST00000391961.2_Missense_Mutation_p.G279V NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G330V(1) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) GACAGTTGCGGCAAGGGATTC 0.388000 33 66 1.08052e-11 1.49942e-11 0.069456 1 0 CSTF2T 23283 broad.mit.edu 37 10 53458690 53458690 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:53458690G>A ENST00000331173.4 - 1 665 c.620C>T c.(619-621)tCt>tTt p.S207F PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 207 mRNA processing nucleus nucleotide binding|RNA binding p.S207F(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GACAGACACAGACTGAGATTT 0.542000 19 23 0 0 0.038395 0 0 CCNB3 85417 broad.mit.edu 37 X 50053545 50053545 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:50053545G>A ENST00000376042.1 + 6 2674 c.2376G>A c.(2374-2376)gcG>gcA p.A792A CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.A792A|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 792 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.A792A(2) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CCAGCATTGCGGAGGGGGAGA 0.517000 4 21 0 0 0.009096 0 0 ASPH 444 broad.mit.edu 37 8 62550537 62550537 + Silent SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:62550537A>G ENST00000541428.1 - 12 931 c.771T>C c.(769-771)aaT>aaC p.N257N ASPH_ENST00000518068.1_Silent_p.N243N|ASPH_ENST00000517847.2_Silent_p.N272N|ASPH_ENST00000517903.1_Silent_p.N271N|ASPH_ENST00000356457.5_Silent_p.N286N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000522919.1_Silent_p.N99N|ASPH_ENST00000522835.1_Silent_p.N229N|ASPH_ENST00000379454.4_Silent_p.N286N|ASPH_ENST00000445642.3_Silent_p.N272N NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 286 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle p.N286N(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTTCTACAGGATTATCCTCAG 0.338000 8 86 0 0 0.047766 0 0 UNC5C 8633 broad.mit.edu 37 4 96140382 96140382 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:96140382G>T ENST00000453304.1 - 9 1731 c.1383C>A c.(1381-1383)gaC>gaA p.D461E UNC5C_ENST00000506749.1_Missense_Mutation_p.D480E NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 461 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity p.D461E(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TTGGGATTTTGTCTGAGACGT 0.512000 76 206 2.02726e-29 3.69734e-29 0.048971 1 0 COL4A6 1288 broad.mit.edu 37 X 107402768 107402768 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107402768A>T ENST00000394872.2 - 44 4970 c.4739T>A c.(4738-4740)gTg>gAg p.V1580E COL4A6_ENST00000334504.7_Missense_Mutation_p.V1579E|COL4A6_ENST00000418180.1_Missense_Mutation_p.V114E|COL4A6_ENST00000538570.1_Missense_Mutation_p.V1522E|COL4A6_ENST00000372216.4_Missense_Mutation_p.V1580E|COL4A6_ENST00000545689.1_Missense_Mutation_p.V1555E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1580 Collagen IV NC1. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.V1579E(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CTGGCTGTGCACAGCAATGGC 0.612000 Alport syndrome with Diffuse Leiomyomatosis 35 59 0 0 0.104719 0 0 DHCR7 1717 broad.mit.edu 37 11 71146589 71146589 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:71146589C>A ENST00000355527.3 - 9 1536 c.1260G>T c.(1258-1260)ctG>ctT p.L420L DHCR7_ENST00000407721.2_Silent_p.L420L NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 420 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding p.L420L(2) endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CGCCACAGGCCAGGCAGTAGG 0.672000 Smith-Lemli-Opitz syndrome 10 21 0.000673444 0.00073694 0.069234 1 0 VANGL2 57216 broad.mit.edu 37 1 160390211 160390211 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:160390211G>T ENST00000368061.2 + 5 1285 c.811G>T c.(811-813)Gtg>Ttg p.V271L VANGL2_ENST00000483408.1_Intron NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 271 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.V271L(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CATCCAGCGCGTGGCAGTGTG 0.607000 33 63 5.04308e-16 7.69522e-16 0.086207 1 0 SEMA3D 223117 broad.mit.edu 37 7 84751060 84751060 + Nonsense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:84751060T>A ENST00000284136.6 - 1 191 c.148A>T c.(148-150)Aaa>Taa p.K50* SEMA3D_ENST00000444867.1_Nonsense_Mutation_p.K50* NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 50 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity p.K50*(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TATTTACCTTTGTAGGTTAGC 0.299000 10 31 0 0 0.069234 0 0 FAT4 79633 broad.mit.edu 37 4 126240058 126240058 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:126240058C>G ENST00000394329.3 + 1 2505 c.2492C>G c.(2491-2493)aCt>aGt p.T831S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 831 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T831S(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATCTCATTACTACTGGGGAT 0.443000 5 171 0 0 0.014758 0 0 CD48 962 broad.mit.edu 37 1 160654604 160654604 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:160654604T>A ENST00000368045.3 - 2 497 c.458A>T c.(457-459)gAg>gTg p.E153V CD48_ENST00000368046.3_Intron P09326 CD48_HUMAN CD48 molecule 0 Ig-like C2-type 2. blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GCCCCATGCCTCCCAGGAAGC 0.527000 25 64 0 0 0.076483 0 0 BAAT 570 broad.mit.edu 37 9 104125073 104125073 + Silent SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:104125073A>C ENST00000259407.2 - 4 1002 c.894T>G c.(892-894)acT>acG p.T298T BAAT_ENST00000395051.3_Silent_p.T298T NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 298 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity p.T298T(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) TTGTCTCAAAAGTGCGATAGA 0.453000 4 76 0 0 0.009096 0 0 OR56A1 120796 broad.mit.edu 37 11 6048764 6048764 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:6048764C>A ENST00000316650.5 - 1 207 c.171G>T c.(169-171)caG>caT p.Q57H NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q57H(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGCCTCCAGCTGGATGGTGA 0.622000 28 22 3.80469e-20 6.26752e-20 0.041601 1 0 STAM 8027 broad.mit.edu 37 10 17737166 17737166 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:17737166A>T ENST00000377524.3 + 7 869 c.654A>T c.(652-654)atA>atT p.I218I STAM_ENST00000540523.1_Silent_p.I107I NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 218 SH3. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity p.I218N(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 TTCGTGCTATATATGACTTTG 0.368000 44 66 0 0 0.042209 0 0 CCDC180 100499483 broad.mit.edu 37 9 100057180 100057180 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:100057180G>T ENST00000357054.1 + 14 1239 c.304G>T c.(304-306)Gtg>Ttg p.V102L CCDC180_ENST00000395220.1_Missense_Mutation_p.V102L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375205.2_Missense_Mutation_p.V142L coiled-coil domain containing 180 p.V102L(1) CATCAACCCTGTGCTTGTCAG 0.507000 10 31 1.61879e-10 2.17543e-10 0.093190 1 0 DBX2 440097 broad.mit.edu 37 12 45429822 45429822 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:45429822G>T ENST00000332700.6 - 2 650 c.479C>A c.(478-480)gCa>gAa p.A160E NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 160 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A160E(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) agtggaggatgcagggcgccg 0.488000 14 14 4.75885e-15 7.02366e-15 0.033300 1 0 ZSCAN22 342945 broad.mit.edu 37 19 58849788 58849788 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:58849788G>T ENST00000329665.4 + 3 719 c.572G>T c.(571-573)gGg>gTg p.G191V NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 191 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G191V(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGACTATCAGGGGAGATCTGG 0.532000 22 56 9.95505e-16 1.49815e-15 0.069288 1 0 OR6N1 128372 broad.mit.edu 37 1 158736290 158736290 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158736290G>T ENST00000335094.2 - 1 202 c.183C>A c.(181-183)caC>caA p.H61Q NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H61Q(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) TGCTGACAAAGTGGTACATGG 0.483000 24 63 4.87955e-14 7.06567e-14 0.108266 1 0 KCNJ8 3764 broad.mit.edu 37 12 21919111 21919111 + Missense_Mutation SNP C C T rs149127157 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:21919111C>T ENST00000240662.2 - 3 1166 c.821G>A c.(820-822)cGc>cAc p.R274H RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 274 voltage-gated potassium channel complex p.R274H(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CAGGGGACTGCGCTTGTCAAT 0.473000 6 21 0 0 0.021553 0 0 CAPN10 11132 broad.mit.edu 37 2 241530258 241530258 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:241530258G>T ENST00000391984.2 + 3 496 c.300G>T c.(298-300)tgG>tgT p.W100C CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.W100C|CAPN10_ENST00000404753.3_Missense_Mutation_p.W100C|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.W100C NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 100 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding p.W100C(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGCCGAGCTGGGCCGACCAGG 0.637000 9 27 0.000274275 0.000304044 0.047766 1 0 APCS 325 broad.mit.edu 37 1 159558097 159558097 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:159558097A>T ENST00000255040.2 + 2 368 c.271A>T c.(271-273)Agt>Tgt p.S91C NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 91 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding p.S91C(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TGGAGAGTATAGTCTATACAT 0.443000 77 73 0 0 0.048971 0 0 GTF3C1 2975 broad.mit.edu 37 16 27523148 27523148 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:27523148C>G ENST00000356183.4 - 7 1063 c.1048G>C c.(1048-1050)Gag>Cag p.E350Q GTF3C1_ENST00000561623.1_Missense_Mutation_p.E350Q NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 350 Asp/Glu-rich (acidic). transcription factor TFIIIC complex DNA binding|protein binding p.E350Q(1) breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ATGACCTCCTCGTCCTCGTCA 0.532000 29 47 0 0 0.030593 0 0 EPHA5 2044 broad.mit.edu 37 4 66535311 66535311 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:66535311G>T ENST00000273854.3 - 1 750 c.150C>A c.(148-150)ctC>ctA p.L50L EPHA5_ENST00000511294.1_Silent_p.L50L|EPHA5_ENST00000432638.2_Silent_p.L50L|EPHA5_ENST00000354839.4_Silent_p.L50L NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 50 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.L50L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GGAGGGTCCGGAGTGCGGCGC 0.726000 TSP Lung(17;0.13) 15 16 4.63292e-17 7.18384e-17 0.049695 1 0 KLRF1 51348 broad.mit.edu 37 12 9997030 9997030 + Nonsense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:9997030G>T ENST00000279544.3 + 6 668 c.604G>T c.(604-606)Gga>Tga p.G202* KLRF1_ENST00000324214.4_Nonsense_Mutation_p.G152*|KLRF1_ENST00000354855.3_3'UTR|KLRF1_ENST00000537723.1_3'UTR NM_016523.1 NP_057607.1 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, member 1 202 C-type lectin. cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding p.G202*(1) breast(1)|endometrium(2)|large_intestine(4)|lung(6) 13 CTTCATAAAGGGACCAGCTAA 0.348000 8 26 5.4927e-09 7.0358e-09 0.047766 1 0 SHROOM4 57477 broad.mit.edu 37 X 50377002 50377002 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:50377002G>T ENST00000376020.2 - 4 2096 c.2071C>A c.(2071-2073)Cct>Act p.P691T SHROOM4_ENST00000460112.3_Missense_Mutation_p.P575T|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P691T NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 691 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.P691T(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GACTGGCCAGGCCTCTGGCCA 0.582000 22 17 3.85864e-22 6.59759e-22 0.076483 1 0 PLCB4 5332 broad.mit.edu 37 20 9459601 9459601 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:9459601G>T ENST00000378501.2 + 36 3545 c.3530G>T c.(3529-3531)aGc>aTc p.S1177I PLCB4_ENST00000334005.3_Missense_Mutation_p.S1177I|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1165S|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1177S|PLCB4_ENST00000378493.1_Missense_Mutation_p.A1165S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1177S NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 0 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.S1177I(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GAAATTGGAAGCCGAGATGGA 0.448000 8 24 7.48243e-07 8.96955e-07 0.058154 1 0 ARFGEF1 10565 broad.mit.edu 37 8 68131718 68131718 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:68131718C>A ENST00000262215.3 - 30 4675 c.4286G>T c.(4285-4287)aGa>aTa p.R1429I ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R267I|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R883I NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1429 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.R1429I(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAAAACAATTCTAAATAAATC 0.318000 10 89 7.48243e-07 8.96955e-07 0.058154 1 0 GRWD1 83743 broad.mit.edu 37 19 48956135 48956135 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:48956135C>T ENST00000253237.5 + 7 1427 c.1194C>T c.(1192-1194)ccC>ccT p.P398P NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 398 nucleolus p.P398P(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) AGGCCGACCCCGGACTGGCCG 0.692000 18 19 0 0 0.049695 0 0 OR2W1 26692 broad.mit.edu 37 6 29012657 29012657 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:29012657A>G ENST00000377175.1 - 1 360 c.296T>C c.(295-297)aTc>aCc p.I99T NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I99T(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 ATAGAGTTGGATGATACAACC 0.433000 38 16 0 0 0.092188 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710446 40710446 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:40710446C>T ENST00000253055.3 + 3 1206 c.918C>T c.(916-918)atC>atT p.I306I MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 306 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity p.I306I(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 ACCGTGAGATCGACGCCTTGG 0.667000 21 32 0 0 0.069288 0 0 NEBL 10529 broad.mit.edu 37 10 21158739 21158739 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:21158739T>A ENST00000377122.4 - 6 908 c.512A>T c.(511-513)cAc>cTc p.H171L NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H171L|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 171 regulation of actin filament length actin binding|structural constituent of muscle p.H171L(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ACTGTACGTGTGGGTGTCCTG 0.378000 31 95 0 0 0.054565 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645402 13645402 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:13645402A>C ENST00000361205.4 + 7 1335 c.667A>C c.(667-669)Atg>Ctg p.M223L LDLRAD4_ENST00000585931.1_Missense_Mutation_p.M146L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.M186L|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.M205L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.M223L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.M125L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.M168L NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 p.M223L(1)|p.M186L(1) AGACATTGCTATGTATAGCGG 0.577000 8 86 0 0 0.047766 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761637 130761637 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:130761637C>A ENST00000392429.1 + 2 2448 c.70C>A c.(70-72)Cag>Aag p.Q24K TMEM200A_ENST00000545622.1_Missense_Mutation_p.Q24K|TMEM200A_ENST00000296978.3_Missense_Mutation_p.Q24K NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 24 integral to membrane p.Q24K(2) 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) CAGATCACAGCAGCATGTCAA 0.537000 29 109 7.38237e-10 9.71631e-10 0.030593 1 0 MAGED1 9500 broad.mit.edu 37 X 51641289 51641289 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:51641289G>T ENST00000375695.2 + 9 2059 c.1906_splice c.e9+1 p.A636_splice MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Splice_Site_p.A580_splice|MAGED1_ENST00000375772.3_Splice_Site_p.A580_splice|MAGED1_ENST00000326587.7_Splice_Site_p.A580_splice NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 580 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding p.A636S(1) breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TGCCAGTGAGGGTGAGTGGCT 0.532000 Multiple Myeloma(10;0.10) 31 54 8.88839e-20 1.45171e-19 0.045705 1 0 DNAH7 56171 broad.mit.edu 37 2 196913024 196913024 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:196913024G>A ENST00000312428.6 - 4 346 c.246C>T c.(244-246)tcC>tcT p.S82S DNAH7_ENST00000410072.1_Silent_p.S82S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 82 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.S82S(1) 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 TCTTACCATGGGACTGTTCAT 0.368000 24 31 0 0 0.099896 0 0 MYO5B 4645 broad.mit.edu 37 18 47455928 47455928 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:47455928C>G ENST00000285039.7 - 17 2343 c.2044G>C c.(2044-2046)Ggg>Cgg p.G682R NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 682 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.G682R(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCCAACACCCCGCAGGCTCTG 0.527000 16 8 0 0 0.049695 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245704 137245704 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:137245704C>T ENST00000331858.4 + 2 1286 c.1121C>T c.(1120-1122)gCt>gTt p.A374V NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 374 carbohydrate transport integral to membrane p.A374V(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CCGCTGGTGGCTGGGAGCTCT 0.587000 13 28 0 0 0.105934 0 0 PARP14 54625 broad.mit.edu 37 3 122446791 122446791 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:122446791G>T ENST00000474629.2 + 16 5340 c.5074G>T c.(5074-5076)Gtc>Ttc p.V1692F NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1692 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity p.V1529F(1)|p.V1692F(1) NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CGTGCCACACGTCAATCGAAA 0.498000 12 21 0.00010058 0.0001133 0.093190 1 0 UQCC1 55245 broad.mit.edu 37 20 33999771 33999771 + Translation_Start_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:33999771C>A ENST00000374377.5 - 0 5 UQCC_ENST00000542501.1_De_novo_Start_InFrame|UQCC_ENST00000540457.1_De_novo_Start_OutOfFrame|UQCC_ENST00000359226.2_De_novo_Start_InFrame|UQCC_ENST00000397554.1_De_novo_Start_InFrame|UQCC_ENST00000374385.5_De_novo_Start_InFrame|UQCC_ENST00000374380.2_De_novo_Start_InFrame|UQCC_ENST00000374384.2_De_novo_Start_InFrame|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000407996.2_De_novo_Start_InFrame Q9NVA1 UQCC_HUMAN cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) CGCCATGTTCCTCAATAACCA 0.567000 38 104 1.00001e-27 1.79392e-27 0.111260 1 0 SIM2 6493 broad.mit.edu 37 21 38114105 38114105 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:38114105T>C ENST00000290399.6 + 8 1551 c.938T>C c.(937-939)gTg>gCg p.V313A SIM2_ENST00000430056.3_Missense_Mutation_p.V313A NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 313 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.V313A(1) breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 TACGCCACCGTGGTGCACAAC 0.572000 6 9 0 0 0.029380 0 0 TBX18 9096 broad.mit.edu 37 6 85446500 85446500 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:85446500T>A ENST00000369663.5 - 8 2064 c.1727A>T c.(1726-1728)cAc>cTc p.H576L TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 576 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.H576L(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GCTAAGCAGGTGCACTCCTTC 0.502000 39 14 0 0 0.074837 0 0 KLK1 3816 broad.mit.edu 37 19 51323520 51323520 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:51323520G>C ENST00000448701.2 - 4 1404 c.80C>G c.(79-81)cCt>cGt p.P27R KLK1_ENST00000301420.2_Missense_Mutation_p.P129R P06870 KLK1_HUMAN kallikrein 1 129 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity p.P129R(1) breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTATCAGCAGGCTCTGTCAG 0.602000 33 83 0 0 0.045515 0 0 CACNA1E 777 broad.mit.edu 37 1 181727186 181727186 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:181727186C>T ENST00000526775.1 + 30 4541 c.4376C>T c.(4375-4377)cCg>cTg p.P1459L CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1478L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1478 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.P1478L(2) 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 GTGGTGTCTCCGTCCTTTGAG 0.557000 17 60 0 0 0.033300 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795404 142795404 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:142795404C>A ENST00000370498.1 - 2 1027 c.274G>T c.(274-276)Gct>Tct p.A92S NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 92 p.L79M(1)|p.A92S(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GATCCTTCAGCTGAGTCTAGG 0.498000 178 388 2.02162e-65 4.1076e-65 0.048971 1 0 MAP2 4133 broad.mit.edu 37 2 210558179 210558179 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:210558179A>T ENST00000360351.4 + 7 1791 c.1285A>T c.(1285-1287)Agt>Tgt p.S429C MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.S425C|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 429 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity p.S429C(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TTTCACCCCCAGTGGACAGGA 0.418000 22 26 0 0 0.076483 0 0 LAMA1 284217 broad.mit.edu 37 18 7023336 7023336 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:7023336C>A ENST00000389658.3 - 19 2621 c.2528G>T c.(2527-2529)gGc>gTc p.G843V NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 843 Laminin EGF-like 7. 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 p.G843V(1) 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) ACAAGATTCGCCAGGCACTGT 0.527000 9 32 1.76689e-08 2.22972e-08 0.058154 1 0 FBN2 2201 broad.mit.edu 37 5 127681204 127681204 + Missense_Mutation SNP C C A rs139620380 byFrequency TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:127681204C>A ENST00000508053.1 - 30 4036 c.3062G>T c.(3061-3063)cGc>cTc p.R1021L FBN2_ENST00000508989.1_Missense_Mutation_p.R988L|FBN2_ENST00000262464.4_Missense_Mutation_p.R1021L P35556 FBN2_HUMAN fibrillin 2 1021 TB 5. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.R1021L(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGCATCCATGCGGAACTTTCC 0.572000 23 49 3.08376e-08 3.85974e-08 0.083992 1 0 HCFC2 29915 broad.mit.edu 37 12 104480726 104480726 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:104480726C>A ENST00000229330.4 + 8 1269 c.1165C>A c.(1165-1167)Cag>Aag p.Q389K NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 389 Fibronectin type-III 1. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.Q389K(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 CTATCTTTTGCAGTTGAGTAC 0.433000 5 108 0.0215528 0.0224618 0.021553 1 0 SYCP3 50511 broad.mit.edu 37 12 102131607 102131607 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:102131607C>G ENST00000392927.3 - 2 238 c.107G>C c.(106-108)aGt>aCt p.S36T SYCP3_ENST00000392924.1_Missense_Mutation_p.S36T|SYCP3_ENST00000266743.2_Missense_Mutation_p.S36T NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 36 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding p.S36T(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 CTCTGATCCACTCAGATCTTT 0.423000 10 200 0 0 0.069234 0 0 SHFM1 7979 broad.mit.edu 37 7 96318269 96318269 + Silent SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:96318269T>C ENST00000248566.2 - 3 307 c.180A>G c.(178-180)ctA>ctG p.L60L SHFM1_ENST00000444799.1_Intron|SHFM1_ENST00000417009.1_Intron|SHFM1_ENST00000413065.1_Intron NM_006304.1 NP_006295.1 P60896 DSS1_HUMAN split hand/foot malformation (ectrodactyly) type 1 60 proteolysis proteasome complex peptidase activity|protein binding p.L60L(1) breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987) CATGTTTCTCTAGTTCAGCTC 0.318000 Homologous recombination 14 47 0 0 0.028581 0 0 VPS13C 54832 broad.mit.edu 37 15 62160902 62160902 + Missense_Mutation SNP G G A rs149574145 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:62160902G>A ENST00000261517.5 - 81 10892 c.10819C>T c.(10819-10821)Cgt>Tgt p.R3607C VPS13C_ENST00000249837.3_Missense_Mutation_p.R3564C|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3607C|VPS13C_ENST00000395898.3_Missense_Mutation_p.R3564C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3607 protein localization p.R3607C(2) NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCATAAGGACGAATGATGCCA 0.443000 15 29 0 0 0.049695 0 0 PASK 23178 broad.mit.edu 37 2 242066563 242066563 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:242066563C>A ENST00000403638.3 - 10 1858 c.1767G>T c.(1765-1767)ggG>ggT p.G589G PASK_ENST00000539818.1_Silent_p.G373G|PASK_ENST00000544142.1_Silent_p.G403G|PASK_ENST00000405260.1_Silent_p.G589G|PASK_ENST00000358649.4_Silent_p.G589G|PASK_ENST00000234040.4_Silent_p.G589G NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 589 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.G589G(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CCACGGCAGCCCCAGCCCAAA 0.647000 26 38 1.64293e-13 2.36114e-13 0.083992 1 0 BAI1 575 broad.mit.edu 37 8 143614706 143614706 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:143614706G>T ENST00000517894.1 + 25 4343 c.3449G>T c.(3448-3450)tGg>tTg p.W1150L BAI1_ENST00000323289.5_Missense_Mutation_p.W1150L O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1150 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding p.W1150L(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCGCTGACCTGGATGTCGGCT 0.697000 8 20 0.000274275 0.000304044 0.047766 1 0 LMO7 4008 broad.mit.edu 37 13 76397701 76397701 + Splice_Site SNP A A G rs151245949 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:76397701A>G ENST00000357063.3 + 16 4057 c.2796_splice c.e16-1 p.M933_splice LMO7_ENST00000377534.3_Splice_Site_p.M933_splice|LMO7_ENST00000341547.4_Splice_Site_p.M599_splice|LMO7_ENST00000321797.8_Splice_Site_p.M648_splice|LMO7_ENST00000526202.1_Splice_Site_p.M498_splice|LMO7_ENST00000465261.2_Splice_Site_p.M648_splice Q8WWI1 LMO7_HUMAN LIM domain 7 933 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding p.M933V(1)|p.M648V(1)|p.M599V(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TCTTATTTAGATGGATGATGC 0.318000 13 50 0 0 0.105934 0 0 ZNF862 643641 broad.mit.edu 37 7 149561358 149561358 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:149561358C>T ENST00000223210.4 + 8 3740 c.3495C>T c.(3493-3495)gcC>gcT p.A1165A NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 1165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity p.A1165A(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GCCAGGAGGCCCCCGGGATGT 0.622000 5 10 0 0 0.029380 0 0 SERPINB7 8710 broad.mit.edu 37 18 61460397 61460397 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:61460397A>T ENST00000398019.2 + 4 547 c.222A>T c.(220-222)tcA>tcT p.S74S SERPINB7_ENST00000336429.2_Silent_p.S74S|SERPINB7_ENST00000546027.1_Silent_p.S74S|SERPINB7_ENST00000540675.1_Silent_p.S57S NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 74 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity p.S74S(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AATAACAGTCAGGGCTCCAGT 0.313000 6 79 0 0 0.029380 0 0 ITM2A 9452 broad.mit.edu 37 X 78616925 78616925 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:78616925C>T ENST00000434584.2 - 4 808 c.472G>A c.(472-474)Gtg>Atg p.V158M ITM2A_ENST00000373298.2_Missense_Mutation_p.V202M|ITM2A_ENST00000469541.1_5'UTR NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 202 BRICHOS. integral to membrane protein binding p.V202M(1) breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 ATTTCCTCCACAGCAACTAGG 0.398000 5 60 0 0 0.021553 0 0 CUX1 1523 broad.mit.edu 37 7 101916724 101916724 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:101916724A>T ENST00000437600.4 + 15 1689 c.1337A>T c.(1336-1338)gAc>gTc p.D446V CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.D432V|CUX1_ENST00000292538.4_Missense_Mutation_p.D448V|CUX1_ENST00000425244.2_Missense_Mutation_p.D402V|CUX1_ENST00000393824.3_Missense_Mutation_p.D409V NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 305 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D448V(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTGGAGCAGGACCTGAGCATC 0.632000 12 9 0 0 0.080935 0 0 DRD1 1812 broad.mit.edu 37 5 174869090 174869090 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:174869090C>T ENST00000393752.2 - 2 2005 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 338 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 p.R338Q(1) 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) AAATGCCTTCCGAAAATCAGC 0.453000 22 37 0 0 0.069288 0 0 CSMD2 114784 broad.mit.edu 37 1 34112407 34112407 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:34112407G>A ENST00000373381.4 - 29 4791 c.4615C>T c.(4615-4617)Ctc>Ttc p.L1539F CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.L412F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1499 CUB 9. integral to membrane|plasma membrane protein binding p.L1499F(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TAGATATGGAGGAAGTCATAG 0.542000 8 8 0 0 0.047766 0 0 FGD5 152273 broad.mit.edu 37 3 14861826 14861826 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:14861826G>A ENST00000285046.5 + 1 1358 c.1248G>A c.(1246-1248)gtG>gtA p.V416V FGD5_ENST00000543601.1_Silent_p.V175V NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 416 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.V416V(1)|p.V175V(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGGTGGTCGTGCTGGAGGAGG 0.672000 9 38 0 0 0.069234 0 0 COL4A5 1287 broad.mit.edu 37 X 107807133 107807133 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:107807133C>A ENST00000328300.6 + 4 497 c.253C>A c.(253-255)Cca>Aca p.P85T COL4A5_ENST00000361603.2_Missense_Mutation_p.P85T NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 85 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P85T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AATTCCAGGGCCACCAGGACC 0.328000 Alport syndrome with Diffuse Leiomyomatosis 13 29 1.15088e-07 1.4196e-07 0.028581 1 0 GRIN3A 116443 broad.mit.edu 37 9 104433358 104433358 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:104433358T>C ENST00000361820.3 - 3 1936 c.1336A>G c.(1336-1338)Agt>Ggt p.S446G NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 446 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding p.S446G(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ATGGAACCACTGAGGCCTCTG 0.458000 24 66 0 0 0.091800 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455264 84455264 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:84455264G>A ENST00000377084.2 - 1 1264 c.379C>T c.(379-381)Ctg>Ttg p.L127L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 127 integral to membrane p.L127L(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCCAGCCCCAGAAAAGTCTGC 0.483000 19 107 0 0 0.055883 0 0 ATM 472 broad.mit.edu 37 11 108205768 108205768 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:108205768G>A ENST00000278616.4 + 55 8468 c.8083G>A c.(8083-8085)Ggt>Agt p.G2695S ATM_ENST00000452508.2_Missense_Mutation_p.G2695S|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2695 G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G2695S(4)|p.G2695C(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTAGCAGGAGGTGTAAATTT 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 28 36 0 0 0.108266 0 0 ZNF626 199777 broad.mit.edu 37 19 20808333 20808333 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:20808333C>A ENST00000601440.1 - 4 496 c.350G>T c.(349-351)tGt>tTt p.C117F CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C117F(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 CACACTTATACATCCTTTTTT 0.338000 43 27 1.03325e-14 1.51332e-14 0.042209 1 0 RIPPLY2 134701 broad.mit.edu 37 6 84563492 84563492 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:84563492G>T ENST00000369689.1 + 2 325 c.174_splice c.e2+1 p.A58_splice RIPPLY2_ENST00000369687.1_5'UTR NM_001009994.1 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 58 somite rostral/caudal axis specification nucleus p.A58A(1) large_intestine(2)|lung(4)|urinary_tract(1) 7 CCGCGGAGGCGGTGAGTGAGC 0.667000 7 7 3.09899e-07 3.76797e-07 0.047766 1 0 VN1R2 317701 broad.mit.edu 37 19 53762292 53762292 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:53762292C>G ENST00000341702.3 + 1 748 c.664C>G c.(664-666)Ctg>Gtg p.L222V NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 222 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.L222V(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTTCCACATGCTGGTAAATGC 0.448000 30 50 0 0 0.050027 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090570 115090570 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:115090570A>C ENST00000361283.1 + 3 1562 c.1253A>C c.(1252-1254)gAg>gCg p.E418A NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 418 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding p.E418A(1) GTGTCTCCAGAGCTTCGCAAA 0.557000 5 95 0 0 0.021553 0 0 AKAP11 11215 broad.mit.edu 37 13 42869861 42869861 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:42869861G>T ENST00000025301.2 + 5 374 c.199G>T c.(199-201)Gat>Tat p.D67Y NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 67 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding p.D67Y(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGAAGAGACAGATGCTGCTCA 0.348000 37 50 6.48837e-15 9.52124e-15 0.039052 1 0 CDH20 28316 broad.mit.edu 37 18 59195340 59195340 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:59195340C>A ENST00000262717.4 + 7 1556 c.1158C>A c.(1156-1158)ccC>ccA p.P386P CDH20_ENST00000536675.2_Silent_p.P386P|CDH20_ENST00000538374.1_Silent_p.P386P Q9HBT6 CAD20_HUMAN cadherin 20, type 2 386 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P386P(1) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) TGGACGAGCCCCCTGTGTTTG 0.512000 28 216 3.65163e-15 5.3999e-15 0.030593 1 0 ATXN7L3 56970 broad.mit.edu 37 17 42274678 42274678 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:42274678T>C ENST00000389384.4 - 3 582 c.274A>G c.(274-276)Agc>Ggc p.S92G ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S92G NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 92 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding p.S92G(1) kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GCGGCAATGCTGCGACTGCAA 0.597000 22 118 0 0 0.069288 0 0 DUSP9 1852 broad.mit.edu 37 X 152914962 152914962 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:152914962C>A ENST00000342782.3 + 3 914 c.649C>A c.(649-651)Cgg>Agg p.R217R DUSP9_ENST00000370167.4_Silent_p.R217R Q99956 DUS9_HUMAN dual specificity phosphatase 9 217 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.R217R(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCAGTGCCCGGGATTCCGC 0.597000 33 66 4.74835e-14 6.88871e-14 0.045705 1 0 FBN2 2201 broad.mit.edu 37 5 127666358 127666358 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:127666358G>A ENST00000508053.1 - 39 5226 c.4252C>T c.(4252-4254)Cag>Tag p.Q1418* FBN2_ENST00000508989.1_Nonsense_Mutation_p.Q1385*|FBN2_ENST00000507835.1_Nonsense_Mutation_p.Q268*|FBN2_ENST00000262464.4_Nonsense_Mutation_p.Q1418* P35556 FBN2_HUMAN fibrillin 2 1418 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.Q1418*(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ATGCTACACTGGTGGGTTCCA 0.463000 23 28 0 0 0.108266 0 0 FAM71C 196472 broad.mit.edu 37 12 100042084 100042084 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:100042084C>A ENST00000324341.1 + 1 554 c.132C>A c.(130-132)ccC>ccA p.P44P ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 44 p.P44P(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GGTATGCACCCATGTTTGAGA 0.522000 12 89 0.00136819 0.00147819 0.093190 1 0 MAPK4 5596 broad.mit.edu 37 18 48256146 48256146 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:48256146C>T ENST00000400384.2 + 6 2722 c.1686C>T c.(1684-1686)ggC>ggT p.G562G MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.G351G NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 562 cell cycle ATP binding|MAP kinase activity p.D563H(1) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) ATAAACTGGGCGACCTCAATG 0.667000 9 6 0 0 0.058154 0 0 SYT9 143425 broad.mit.edu 37 11 7335047 7335047 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:7335047G>T ENST00000318881.6 + 3 1156 c.919G>T c.(919-921)Gtg>Ttg p.V307L SYT9_ENST00000396716.2_Missense_Mutation_p.V275L NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 307 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.V307L(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCACTTCTCTGTGTACGACTT 0.468000 113 140 2.73796e-65 5.54836e-65 0.048971 1 0 LINGO2 158038 broad.mit.edu 37 9 27949528 27949528 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:27949528A>C ENST00000379992.2 - 6 1591 c.1142T>G c.(1141-1143)aTg>aGg p.M381R LINGO2_ENST00000308675.3_Missense_Mutation_p.M381R NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 381 LRRCT. integral to membrane p.M381R(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCCAGCACACATAGGTTGCTG 0.512000 35 26 0 0 0.059317 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927894 92927894 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:92927894G>T ENST00000373079.3 - 1 673 c.410C>A c.(409-411)gCt>gAt p.A137D NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 137 nucleosome assembly chromatin assembly complex p.A137D(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 GTTGAGTTCAGCATATTTTCT 0.388000 25 47 8.24728e-16 1.2485e-15 0.099896 1 0 PILRB 29990 broad.mit.edu 37 7 99956677 99956677 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:99956677G>T ENST00000310771.4 + 16 2925 c.429G>T c.(427-429)aaG>aaT p.K143N PILRB_ENST00000452089.1_Missense_Mutation_p.K143N|PILRB_ENST00000444874.1_Missense_Mutation_p.G74W|PILRB_ENST00000448382.1_Missense_Mutation_p.G196W|PILRB_ENST00000444073.1_Missense_Mutation_p.K143N Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 143 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity p.K143N(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGTCCATCAAGGGGACCAAAC 0.567000 20 29 1.33834e-09 1.74943e-09 0.043863 1 0 LST3 0 broad.mit.edu 37 12 21229503 21229503 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:21229503G>T ENST00000540229.1 + 15 2113 c.2048_splice c.e15+1 p.G683_splice LST3_ENST00000381541.3_Splice_Site_p.G622_splice|SLCO1B7_ENST00000554957.1_Splice_Site_p.G622_splice|RP11-125O5.2_ENST00000590779.1_Splice_Site_p.V76_splice|SLCO1B3_ENST00000553473.1_Splice_Site_p.G683_splice|SLCO1B7_ENST00000421593.2_Splice_Site_p.G575_splice p.G575V(1) ACATATTTGGGGTAAGTTGTC 0.313000 30 45 2.47511e-08 3.10808e-08 0.037714 1 0 FSTL5 56884 broad.mit.edu 37 4 162380415 162380415 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:162380415C>A ENST00000306100.5 - 14 2101 c.1665G>T c.(1663-1665)caG>caT p.Q555H FSTL5_ENST00000379164.4_Missense_Mutation_p.Q554H|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q554H|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q545H NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 555 extracellular region calcium ion binding p.Q555H(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GCACCCAGACCTGATCATGTG 0.363000 44 24 1.17673e-23 2.03012e-23 0.048971 1 0 FBXL7 23194 broad.mit.edu 37 5 15928457 15928457 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:15928457T>A ENST00000504595.1 + 3 1067 c.586T>A c.(586-588)Tgc>Agc p.C196S FBXL7_ENST00000329673.7_Missense_Mutation_p.C184S|FBXL7_ENST00000510662.1_Missense_Mutation_p.C149S NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 196 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.C196S(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TGTCAGTGGCTGCAGGCGGCT 0.607000 8 19 0 0 0.038147 0 0 GPRC5B 51704 broad.mit.edu 37 16 19873217 19873217 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:19873217G>C ENST00000300571.2 - 3 1300 c.1109C>G c.(1108-1110)cCg>cGg p.P370R GPRC5B_ENST00000569847.1_Missense_Mutation_p.P370R|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P396R|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P370R|GPRC5B_ENST00000535671.1_Missense_Mutation_p.P370R NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 370 p.P370R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCTTCTAAACGGAGCGCTGGG 0.562000 34 73 0 0 0.059317 0 0 TRPM2 7226 broad.mit.edu 37 21 45819256 45819256 + Nonsense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45819256A>T ENST00000397928.1 + 14 2585 c.2140A>T c.(2140-2142)Aag>Tag p.K714* TRPM2_ENST00000397932.2_Nonsense_Mutation_p.K714*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.K694*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.K714* NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 714 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.K714*(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGCCTGGGGGAAGACCACCTG 0.622000 10 29 0 0 0.080935 0 0 RYR3 6263 broad.mit.edu 37 15 34064146 34064146 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:34064146C>A ENST00000389232.4 + 63 8912 c.8842C>A c.(8842-8844)Ctg>Atg p.L2948M RYR3_ENST00000415757.3_Missense_Mutation_p.L2948M NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2948 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.L2948M(1) 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) AGGCTCAGAGCTGGTGAAGGC 0.448000 7 5 0.000157383 0.000175994 0.038147 1 0 RNF113A 7737 broad.mit.edu 37 X 119004598 119004598 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:119004598C>A ENST00000371442.2 - 1 1193 c.979G>T c.(979-981)Ggt>Tgt p.G327C NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 327 nucleic acid binding|zinc ion binding p.G327C(1) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 TCGGAAGCACCACCCTCTCCT 0.443000 117 217 2.78246e-50 5.5074e-50 0.048971 1 0 GDA 9615 broad.mit.edu 37 9 74828893 74828893 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:74828893C>G ENST00000358399.3 + 5 657 c.564C>G c.(562-564)atC>atG p.I188M GDA_ENST00000545168.1_Missense_Mutation_p.I114M|GDA_ENST00000376986.1_Missense_Mutation_p.I146M|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.I188M|GDA_ENST00000376989.3_Missense_Mutation_p.I163M NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 188 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding p.I188M(2) central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) AGGAATCGATCAAGGAAACTG 0.418000 10 34 0 0 0.058154 0 0 PLAUR 5329 broad.mit.edu 37 19 44171830 44171830 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:44171830C>A ENST00000221264.4 - 2 495 c.69G>T c.(67-69)ctG>ctT p.L23L PLAUR_ENST00000340093.3_Silent_p.L23L|PLAUR_ENST00000339082.3_Silent_p.L23L|PLAUR_ENST00000601723.1_Silent_p.L23L NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 23 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity p.L23L(2) endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GCATGCACCGCAGGCCCCAAG 0.612000 10 25 7.48243e-07 8.96955e-07 0.058154 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55340893 55340893 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:55340893C>A ENST00000391728.4 + 7 1111 c.1078C>A c.(1078-1080)Ctt>Att p.L360I KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L343I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L360I|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L265I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L343I NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.L360I(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) cttctttctccttcatctcTG 0.532000 9 24 1.49906e-05 1.73456e-05 0.020292 1 0 LAMA3 3909 broad.mit.edu 37 18 21508618 21508618 + Silent SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:21508618A>C ENST00000313654.9 + 64 8566 c.8325A>C c.(8323-8325)ggA>ggC p.G2775G LAMA3_ENST00000399516.3_Silent_p.G2719G|LAMA3_ENST00000269217.6_Silent_p.G1166G|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.G1110G NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2775 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.G1166G(1)|p.G2775G(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCTCCAGAGGAGGACAATTGA 0.428000 41 333 0 0 0.048971 0 0 TRIM72 493829 broad.mit.edu 37 16 31230652 31230652 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:31230652G>T ENST00000322122.3 + 4 813 c.529G>T c.(529-531)Ggc>Tgc p.G177C NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 177 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding p.G177C(2) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 GGAGCAGCTGGGCAAGATGCG 0.667000 47 80 1.72184e-34 3.22476e-34 0.048971 1 0 UBA6 55236 broad.mit.edu 37 4 68562390 68562390 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:68562390G>C ENST00000322244.4 - 2 166 c.107C>G c.(106-108)tCt>tGt p.S36C UBA6_ENST00000420827.2_Missense_Mutation_p.S36C NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 36 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding p.S36C(1) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 GATTTCCACAGATGCTGTTGA 0.284000 19 37 0 0 0.055883 0 0 PKNOX2 63876 broad.mit.edu 37 11 125255501 125255501 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:125255501C>A ENST00000298282.9 + 6 553 c.282C>A c.(280-282)acC>acA p.T94T PKNOX2_ENST00000542175.1_Silent_p.T30T|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 94 nucleus sequence-specific DNA binding transcription factor activity p.T94T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AACAGGCCACCCAGGGCTCTG 0.557000 10 50 0.00136819 0.00147819 0.093190 1 0 OR51F2 119694 broad.mit.edu 37 11 4843368 4843368 + Silent SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:4843368C>A ENST00000322110.5 + 1 818 c.753C>A c.(751-753)gcC>gcA p.A251A MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A251A(1) breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGCGGAAAGCCTTCAACACCT 0.502000 20 49 9.7654e-05 0.000110655 0.043863 1 0 FRG1 2483 broad.mit.edu 37 4 190878613 190878613 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:190878613A>G ENST00000226798.4 + 6 715 c.493A>G c.(493-495)Ata>Gta p.I165V FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 165 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.I165V(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGCAGGGGACATAGAAGCAAA 0.378000 3 43 0 0 0.021553 0 0 TRIM69 140691 broad.mit.edu 37 15 45047534 45047534 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr15:45047534A>G ENST00000559390.1 + 3 1371 c.443A>G c.(442-444)aAg>aGg p.K148R TRIM69_ENST00000329464.4_Missense_Mutation_p.K148R|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron Q86WT6 TRI69_HUMAN tripartite motif containing 69 148 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding p.K148R(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) GGGCAGTCTAAGGAGTTCCTG 0.468000 17 44 0 0 0.049695 0 0 OTC 5009 broad.mit.edu 37 X 38271170 38271170 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:38271170C>A ENST00000039007.4 + 9 1075 c.923C>A c.(922-924)cCa>cAa p.P308Q TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 308 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity p.P308Q(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) CCCAGAAAGCCAGAAGAAGTG 0.423000 89 153 7.61764e-41 1.4698e-40 0.048971 1 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 3 52 0 0 0.021553 0 0 BTK 695 broad.mit.edu 37 X 100626677 100626677 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:100626677C>A ENST00000308731.7 - 4 416 c.253G>T c.(253-255)Gag>Tag p.E85* BTK_ENST00000372880.1_Nonsense_Mutation_p.E85* NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 85 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 p.E85*(1) 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 TCACTGGACTCTTCACCTCTT 0.393000 Agammaglobulinemia, X-linked 9 149 2.74318e-10 3.67356e-10 0.058154 1 0 UPF3B 65109 broad.mit.edu 37 X 118979170 118979170 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:118979170T>A ENST00000276201.2 - 4 529 c.460A>T c.(460-462)Atc>Ttc p.I154F UPF3B_ENST00000345865.2_Missense_Mutation_p.I154F|UPF3B_ENST00000478840.1_5'UTR NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 154 Necessary for interaction with UPF2.|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.I154F(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 CCATCATCGATAGTCCCGACT 0.333000 24 152 0 0 0.099896 0 0 BAGE2 85319 broad.mit.edu 37 21 11039181 11039181 + RNA SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:11039181G>A ENST00000470054.1 - 0 1022 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) TCTAGTGGAAGAGTGACAGAT 0.423000 17 192 0 0 0.028581 0 0 TGM3 7053 broad.mit.edu 37 20 2321104 2321104 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr20:2321104G>T ENST00000381458.5 + 13 2022 c.1959G>T c.(1957-1959)gaG>gaT p.E653D NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 653 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity p.E653D(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) GGCCCAAGGAGGGGTCCCGGG 0.612000 24 113 2.2171e-23 3.8164e-23 0.041601 1 0 SEC24D 9871 broad.mit.edu 37 4 119686060 119686060 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:119686060T>C ENST00000379735.5 - 10 1467 c.1196A>G c.(1195-1197)tAt>tGt p.Y399C SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Missense_Mutation_p.Y29C|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.Y398C NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 398 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.Y398C(1) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 ATGTTGGAAATAGAATGGTGG 0.318000 20 104 0 0 0.043863 0 0 ZNF454 285676 broad.mit.edu 37 5 178391974 178391974 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:178391974G>T ENST00000320129.3 + 5 872 c.569G>T c.(568-570)aGt>aTt p.S190I ZNF454_ENST00000519564.1_Missense_Mutation_p.S190I NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S190I(2) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTCTCTAAGAGTTCAACTCTT 0.333000 7 47 2.0095e-06 2.36812e-06 0.029380 1 0 PEG3 5178 broad.mit.edu 37 19 57330040 57330040 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:57330040G>A ENST00000326441.9 - 8 1063 c.700C>T c.(700-702)Ctc>Ttc p.L234F PEG3_ENST00000593695.1_Missense_Mutation_p.L108F|ZIM2_ENST00000593711.1_Missense_Mutation_p.L109F|ZIM2_ENST00000601070.1_Missense_Mutation_p.L109F|PEG3_ENST00000423103.2_Missense_Mutation_p.L234F|PEG3_ENST00000598410.1_Missense_Mutation_p.L109F|ZIM2_ENST00000221722.5_Missense_Mutation_p.L109F|ZIM2_ENST00000391708.3_Missense_Mutation_p.L109F|ZIM2_ENST00000599935.1_Missense_Mutation_p.L109F NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 234 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L234F(2)|p.L109F(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCTCAGCGAGGTCCACCACA 0.483000 46 86 0 0 0.048971 0 0 GTF2F1 2962 broad.mit.edu 37 19 6380419 6380419 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:6380419T>G ENST00000394456.5 - 13 1891 c.1427A>C c.(1426-1428)aAg>aCg p.K476T GTF2F1_ENST00000429701.2_Missense_Mutation_p.K391T NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 476 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding p.K476T(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 GGTCTGGAACTTTTTCAGCAG 0.587000 7 121 0 0 0.029380 0 0 FTO 79068 broad.mit.edu 37 16 53967990 53967990 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:53967990C>T ENST00000471389.1 + 8 1555 c.1333C>T c.(1333-1335)Cgc>Tgc p.R445C FTO_ENST00000463855.1_Missense_Mutation_p.R67C|FTO_ENST00000431610.2_Missense_Mutation_p.R46C|FTO_ENST00000394647.3_Missense_Mutation_p.R149C|FTO_ENST00000460382.1_Missense_Mutation_p.R46C NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 445 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.R445C(1) endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GCTCACTGCACGCCAGAACCT 0.468000 8 38 0 0 0.038147 0 0 FAM169A 26049 broad.mit.edu 37 5 74130289 74130289 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:74130289T>G ENST00000389156.4 - 5 542 c.452A>C c.(451-453)aAa>aCa p.K151T FAM169A_ENST00000510496.1_Missense_Mutation_p.K151T|FAM169A_ENST00000380515.3_Intron NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 151 p.K151T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GGCCTCTCCTTTCTTCCACAG 0.358000 21 59 0 0 0.083992 0 0 ZNF680 340252 broad.mit.edu 37 7 63982531 63982531 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:63982531T>C ENST00000309683.6 - 4 752 c.601A>G c.(601-603)Ata>Gta p.I201V ZNF680_ENST00000476563.1_5'UTR NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I201V(1) breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) TGAATTCTTATATGTTGTGTT 0.323000 9 27 0 0 0.058154 0 0 IGLC7 28834 broad.mit.edu 37 22 23264983 23264983 + RNA SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:23264983C>T ENST00000390331.1 + 0 218 GCTACCTGAGCCTGACGCCCG 0.597000 12 10 0 0 0.093190 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37462912 37462912 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:37462912C>A ENST00000381792.2 - 18 2410 c.2270G>T c.(2269-2271)cGc>cTc p.R757L TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R757L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R735L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R744L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 744 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity p.R744L(1) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ACACAGCATGCGTGGCGTCAC 0.617000 6 21 4.36969e-10 5.80101e-10 0.105934 1 0 HECTD4 283450 broad.mit.edu 37 12 112681285 112681285 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:112681285C>A ENST00000550722.1 - 32 4787 c.4392G>T c.(4390-4392)agG>agT p.R1464S HECTD4_ENST00000377560.5_Missense_Mutation_p.R1438S|HECTD4_ENST00000430131.2_Missense_Mutation_p.R1188S NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.R1188S(1)|p.R1438S(1) CCCGCCGCCACCTTGTCTGTG 0.592000 6 7 8.12818e-05 9.22398e-05 0.029380 1 0 RASEF 158158 broad.mit.edu 37 9 85619415 85619415 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:85619415G>A ENST00000376447.3 - 9 1460 c.1200C>T c.(1198-1200)gaC>gaT p.D400D NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 400 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding p.D400D(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TAACATACCTGTCATAGCCTA 0.338000 20 32 0 0 0.069288 0 0 NLRP5 126206 broad.mit.edu 37 19 56539728 56539728 + Missense_Mutation SNP T T G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56539728T>G ENST00000390649.3 + 7 2129 c.2129T>G c.(2128-2130)gTg>gGg p.V710G NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 710 mitochondrion|nucleolus ATP binding p.V710G(1) 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) TTCCAAGAAGTGTGGCTTCCG 0.498000 81 134 0 0 0.048971 0 0 ZNF107 51427 broad.mit.edu 37 7 64166746 64166746 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:64166746A>G ENST00000395391.1 + 4 1439 c.64A>G c.(64-66)Ata>Gta p.I22V ZNF107_ENST00000344930.3_Missense_Mutation_p.I22V|ZNF107_ENST00000423627.1_Missense_Mutation_p.I22V Q9UII5 ZN107_HUMAN zinc finger protein 107 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I22V(1) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGAGCAGAACATAAAAGATTC 0.338000 24 58 0 0 0.041601 0 0 RAB30 27314 broad.mit.edu 37 11 82698724 82698724 + Missense_Mutation SNP T T C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:82698724T>C ENST00000533486.1 - 5 550 c.266A>G c.(265-267)tAt>tGt p.Y89C RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Missense_Mutation_p.Y89C|RAB30_ENST00000527633.1_Missense_Mutation_p.Y89C|RAB30_ENST00000532548.1_Missense_Mutation_p.Y89C|RAB30_ENST00000525117.1_Missense_Mutation_p.Y61C|RAB30_ENST00000260056.2_Missense_Mutation_p.Y89C NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 89 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity p.Y89C(1) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GGTAATGTCATAGGTGAGGAT 0.493000 34 47 0 0 0.050027 0 0 BRS3 680 broad.mit.edu 37 X 135574143 135574143 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:135574143C>A ENST00000370648.3 + 3 1037 c.809C>A c.(808-810)gCc>gAc p.A270D NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 270 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity p.A270D(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) AAGAGAATTGCCAGAACGGTA 0.368000 57 75 5.12918e-33 9.5132e-33 0.048971 1 0 LTBP1 4052 broad.mit.edu 37 2 33585790 33585790 + Nonsense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:33585790C>A ENST00000404816.2 + 27 4480 c.4127C>A c.(4126-4128)tCa>tAa p.S1376* LTBP1_ENST00000272273.5_Nonsense_Mutation_p.S274*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S997*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S995*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S1377*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S1050*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S1051*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S1008* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1376 TB 3. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.S1377*(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TGCTGTACATCAGGCGTGGGA 0.468000 37 54 1.836e-18 2.89975e-18 0.064281 1 0 BEND4 389206 broad.mit.edu 37 4 42145907 42145907 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:42145907T>A ENST00000502486.1 - 3 1171 c.592A>T c.(592-594)Att>Ttt p.I198F BEND4_ENST00000504360.1_Missense_Mutation_p.I194F NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 198 p.I194F(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 ACGCAAGAAATCATGGACTGA 0.473000 9 13 0 0 0.058154 0 0 OCRL 4952 broad.mit.edu 37 X 128699806 128699806 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:128699806G>A ENST00000371113.4 + 13 1467 c.1302G>A c.(1300-1302)gaG>gaA p.E434E OCRL_ENST00000357121.5_Silent_p.E434E NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 434 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding p.E434E(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 ATGCCAATGAGGTGAAAAGTC 0.358000 78 161 0 0 0.048971 0 0 NLRP13 126204 broad.mit.edu 37 19 56424611 56424611 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56424611G>T ENST00000588751.1 - 5 596 c.572C>A c.(571-573)aCa>aAa p.T191K NLRP13_ENST00000342929.3_Missense_Mutation_p.T191K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 191 ATP binding p.T191K(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GTTGTCCCATGTCTCCAGTAG 0.443000 57 147 5.5144e-22 9.40765e-22 0.048971 1 0 SPTA1 6708 broad.mit.edu 37 1 158644338 158644338 + Nonsense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:158644338G>A ENST00000368148.3 - 9 1420 c.1240C>T c.(1240-1242)Cag>Tag p.Q414* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.Q414* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 414 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.Q413_Q414>H*(1)|p.Q414K(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ACCTTATGCTGCTGATGCCTG 0.512000 9 212 0 0 0.058154 0 0 ASXL3 80816 broad.mit.edu 37 18 31323007 31323007 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:31323007G>T ENST00000269197.5 + 12 3195 c.3195G>T c.(3193-3195)cgG>cgT p.R1065R NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1065 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.R772R(2)|p.R1065R(2) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AACAAGCTCGGGCCCAGCGAG 0.612000 8 49 0.00448238 0.00478204 0.047766 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140752309 140752309 + Missense_Mutation SNP A A C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:140752309A>C ENST00000576222.1 + 1 2479 c.2348A>C c.(2347-2349)gAt>gCt p.D783A PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCTATGTGATGAAGCCTCT 0.378000 14 15 0 0 0.020292 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811257 5811257 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:5811257C>T ENST00000381095.3 - 6 2679 c.2052G>A c.(2050-2052)tcG>tcA p.S684S NLGN4X_ENST00000381092.1_Silent_p.S684S|NLGN4X_ENST00000275857.6_Silent_p.S684S|NLGN4X_ENST00000538097.1_Silent_p.S684S|NLGN4X_ENST00000381093.2_Silent_p.S704S NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 684 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.S684S(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGAAGAGGAGCGACGCCCCGA 0.527000 28 89 0 0 0.030593 0 0 REG3G 130120 broad.mit.edu 37 2 79253910 79253910 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:79253910C>A ENST00000272324.5 + 3 332 c.148C>A c.(148-150)Ccc>Acc p.P50T REG3G_ENST00000393897.2_Missense_Mutation_p.P50T|REG3G_ENST00000409471.1_Missense_Mutation_p.P50T NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 50 C-type lectin. acute-phase response extracellular region sugar binding p.P50T(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTATGGCTCCCCCTGCTATGC 0.522000 23 35 2.32416e-17 3.62588e-17 0.069288 1 0 USP35 57558 broad.mit.edu 37 11 77916913 77916913 + Missense_Mutation SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:77916913G>A ENST00000529308.1 + 7 1484 c.1223G>A c.(1222-1224)cGc>cAc p.R408H USP35_ENST00000526425.1_Missense_Mutation_p.R139H|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 408 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R408H(1)|p.R164H(1) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AATGAGGACCGCATCAAGCAG 0.582000 4 133 0 0 0.009096 0 0 NLRC5 84166 broad.mit.edu 37 16 57111715 57111715 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:57111715G>T ENST00000436936.1 + 42 5292 c.e42+1 NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site|NLRC5_ENST00000308149.7_Splice_Site Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding p.?(1) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AGGAGTTGATGTGAGTGTCTG 0.672000 18 22 0.00074312 0.000812026 0.038395 1 0 TRAF3IP3 80342 broad.mit.edu 37 1 209935992 209935992 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:209935992C>A ENST00000367024.1 + 4 994 c.478C>A c.(478-480)Ccc>Acc p.P160T TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P140T|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P140T|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P160T|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P140T Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 160 integral to membrane protein binding p.P140T(1) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAAGAAGCCACCCAAACACCA 0.597000 18 21 8.34094e-07 9.95196e-07 0.049695 1 0 ZPLD1 131368 broad.mit.edu 37 3 102157407 102157407 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:102157407T>A ENST00000306176.1 + 2 224 c.124T>A c.(124-126)Tgt>Agt p.C42S ZPLD1_ENST00000466937.1_Missense_Mutation_p.C26S|ZPLD1_ENST00000491959.1_Missense_Mutation_p.C26S NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 26 integral to membrane p.C42S(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CGGCTACAACTGTGATGCCAA 0.408000 14 27 0 0 0.105934 0 0 PLXND1 23129 broad.mit.edu 37 3 129293305 129293305 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:129293305G>T ENST00000393239.1 - 12 2737 c.2559C>A c.(2557-2559)agC>agA p.S853R PLXND1_ENST00000324093.4_Missense_Mutation_p.S853R Q9Y4D7 PLXD1_HUMAN plexin D1 853 axon guidance integral to membrane|intracellular|plasma membrane p.S853R(1) PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AACAGTCGGGGCTGCCCATGG 0.672000 9 18 0.000442599 0.000487815 0.058154 1 0 BRINP3 339479 broad.mit.edu 37 1 190067374 190067374 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:190067374G>T ENST00000367462.3 - 8 2306 c.2075C>A c.(2074-2076)aCt>aAt p.T692N FAM5C_ENST00000534846.1_Missense_Mutation_p.T590N|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 692 extracellular region p.T692N(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGATCCCTGAGTATAGGGGTA 0.453000 28 93 7.01153e-11 9.55665e-11 0.034045 1 0 WASF3 10810 broad.mit.edu 37 13 27255238 27255238 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:27255238A>G ENST00000361042.4 + 8 980 c.755A>G c.(754-756)aAc>aGc p.N252S WASF3_ENST00000335327.5_Missense_Mutation_p.N255S Q9UPY6 WASF3_HUMAN WAS protein family, member 3 255 actin filament polymerization cytoplasm|cytoskeleton actin binding p.N255S(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) GCTACTCCCAACCATTCTCTG 0.527000 16 72 0 0 0.043863 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). 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 plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 17 21 1.96292e-10 2.63327e-10 0.055883 1 0 MED15 51586 broad.mit.edu 37 22 20937232 20937232 + Silent SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:20937232A>T ENST00000263205.7 + 11 1584 c.1515A>T c.(1513-1515)tcA>tcT p.S505S MED15_ENST00000541476.1_Silent_p.S439S|MED15_ENST00000406969.1_Silent_p.S439S|MED15_ENST00000292733.7_Silent_p.S465S|MED15_ENST00000425759.2_Silent_p.S354S|MED15_ENST00000382974.2_Silent_p.S394S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Intron NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 505 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.S465S(1)|p.S505S(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) GTGTCCCCTCACCTGGACCTT 0.617000 20 36 0 0 0.055883 0 0 TEX15 56154 broad.mit.edu 37 8 30695124 30695124 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:30695124C>T ENST00000256246.2 - 3 7601 c.7527G>A c.(7525-7527)tcG>tcA p.S2509S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2509 p.S2509S(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTGAGAGCACCGACGCATCAG 0.368000 26 84 0 0 0.099896 0 0 SORCS1 114815 broad.mit.edu 37 10 108923816 108923816 + Missense_Mutation SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:108923816C>G ENST00000263054.6 - 1 476 c.469G>C c.(469-471)Gag>Cag p.E157Q SORCS1_ENST00000344440.6_Missense_Mutation_p.E157Q NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 157 integral to membrane neuropeptide receptor activity|protein binding p.E157Q(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGTCTCAGCTCCTCCATCCGG 0.637000 12 39 0 0 0.080935 0 0 ESX1 80712 broad.mit.edu 37 X 103495020 103495020 + Silent SNP C C G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:103495020C>G ENST00000372588.4 - 4 1193 c.1110G>C c.(1108-1110)ccG>ccC p.P370P NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 370 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P370P(1) endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 GCGCCATGGGCGGCCCGGGTG 0.697000 14 33 0 0 0.105934 0 0 ICA1L 130026 broad.mit.edu 37 2 203644316 203644316 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:203644316C>T ENST00000392237.2 - 14 1546 c.1389G>A c.(1387-1389)ttG>ttA p.L463L ICA1L_ENST00000358299.2_Silent_p.L463L NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 463 p.L463L(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAAGTGGATCCAAGTCTGCAA 0.378000 24 31 0 0 0.030593 0 0 TMEFF1 8577 broad.mit.edu 37 9 103310025 103310025 + Splice_Site SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:103310025G>T ENST00000374879.4 + 6 992 c.e6-1 TMEFF1_ENST00000334943.6_Splice_Site|MSANTD3-TMEFF1_ENST00000502978.1_Splice_Site NM_003692.4 NP_003683.2 transmembrane protein with EGF-like and two follistatin-like domains 1 p.?(1) NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1) 19 Acute lymphoblastic leukemia(62;0.0452) TTTTCCAACAGGTGTGTATGT 0.348000 20 41 4.35082e-09 5.61065e-09 0.055883 1 0 ZBTB41 360023 broad.mit.edu 37 1 197169211 197169211 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:197169211T>A ENST00000367405.4 - 1 461 c.393A>T c.(391-393)gtA>gtT p.V131V ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 131 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V131V(1) 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 CTGAATGTGTTACGTGATCCA 0.353000 23 41 0 0 0.099896 0 0 TFRC 7037 broad.mit.edu 37 3 195794416 195794416 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:195794416G>C ENST00000360110.4 - 9 1182 c.1013C>G c.(1012-1014)tCc>tGc p.S338C TFRC_ENST00000535031.1_Missense_Mutation_p.S56C|TFRC_ENST00000392396.3_Missense_Mutation_p.S338C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.S257C NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 338 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity p.S338C(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AGCAGCTCTGGAGATTGTCTG 0.428000 T BCL6 NHL 14 56 0 0 0.028581 0 0 TTC3 7267 broad.mit.edu 37 21 38459658 38459658 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:38459658G>T ENST00000399017.2 + 2 2848 c.101G>T c.(100-102)aGc>aTc p.S34I TTC3_ENST00000354749.2_Missense_Mutation_p.S34I|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.S34I|TTC3_ENST00000355666.1_Missense_Mutation_p.S34I|TTC3_ENST00000540756.1_Intron NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 34 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S34I(1) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GAATTTATGAGCAATGATTAT 0.398000 53 163 2.27459e-33 4.2496e-33 0.048971 1 0 WDFY3 23001 broad.mit.edu 37 4 85724621 85724621 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:85724621C>A ENST00000322366.6 - 16 2837 c.e16-1 WDFY3_ENST00000295888.4_Splice_Site|WDFY3_ENST00000512267.1_Splice_Site|WDFY3-AS1_ENST00000510449.1_RNA Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.?(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATATGCATGCCTATAAAAAAA 0.368000 20 35 3.62473e-10 4.82877e-10 0.062417 1 0 HERC4 26091 broad.mit.edu 37 10 69700696 69700696 + Splice_Site SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:69700696C>A ENST00000395198.3 - 21 2775 c.2528_splice c.e21+1 p.R843_splice HERC4_ENST00000373700.4_Splice_Site_p.R835_splice|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Splice_Site_p.R733_splice|HERC4_ENST00000412272.2_Intron NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 843 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity p.R843I(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TCCAACTAACCTCCCAACATC 0.358000 40 81 2.45108e-15 3.6599e-15 0.104719 1 0 RRP1B 23076 broad.mit.edu 37 21 45106693 45106693 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr21:45106693A>G ENST00000340648.4 + 12 1135 c.1018A>G c.(1018-1020)Ata>Gta p.I340V NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 340 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding p.I340V(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) AGGAAGCAGTATATCTCAACT 0.473000 25 35 0 0 0.091800 0 0 MED12 9968 broad.mit.edu 37 X 70345279 70345279 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:70345279C>A ENST00000333646.6 + 16 2504 c.2305C>A c.(2305-2307)Cat>Aat p.H769N MED12_ENST00000374102.1_Missense_Mutation_p.H769N|MED12_ENST00000374080.3_Missense_Mutation_p.H769N NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 769 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.H769N(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TGATGCCCGCCATGCCATCAA 0.532000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 12 32 5.50884e-06 6.43257e-06 0.093190 1 0 NLRP5 126206 broad.mit.edu 37 19 56544988 56544988 + Missense_Mutation SNP A A T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:56544988A>T ENST00000390649.3 + 9 2528 c.2528A>T c.(2527-2529)aAc>aTc p.N843I NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 843 mitochondrion|nucleolus ATP binding p.N843I(1) 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) AGATCCCTCAACTTGGGAGGC 0.502000 93 130 0 0 0.048971 0 0 ROBO4 54538 broad.mit.edu 37 11 124756669 124756669 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:124756669C>A ENST00000306534.3 - 16 2970 c.2485G>T c.(2485-2487)Ggg>Tgg p.G829W RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.G684W NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 829 angiogenesis|cell differentiation integral to membrane receptor activity p.G829W(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CTGATGTACCCATAGGTGGTG 0.617000 13 52 4.7546e-09 6.11078e-09 0.028581 1 0 FMNL1 752 broad.mit.edu 37 17 43321390 43321390 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:43321390C>T ENST00000331495.3 + 18 2782 c.2446C>T c.(2446-2448)Ccg>Tcg p.P816S FMNL1_ENST00000587489.1_Missense_Mutation_p.P394S|FMNL1_ENST00000328118.3_Missense_Mutation_p.P816S NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 816 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding p.P816S(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GCTGCTCATGCCGGTGTGGGC 0.672000 3 44 0 0 0.004672 0 0 APOB 338 broad.mit.edu 37 2 21233989 21233989 + Silent SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:21233989G>C ENST00000233242.1 - 26 5878 c.5751C>G c.(5749-5751)ctC>ctG p.L1917L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1917 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.L1917L(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCCAGAGAGCGAGTTTCCCAT 0.443000 88 179 0 0 0.048971 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555076 178555076 + Missense_Mutation SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:178555076T>A ENST00000251582.7 - 17 2602 c.2501A>T c.(2500-2502)tAc>tTc p.Y834F NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 834 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Y834F(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATGGATCATGTATTTGTACGT 0.577000 30 33 0 0 0.059317 0 0 AFP 174 broad.mit.edu 37 4 74313357 74313357 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:74313357A>G ENST00000395792.2 + 8 1122 c.1022A>G c.(1021-1023)cAa>cGa p.Q341R AFP_ENST00000226359.2_Missense_Mutation_p.Q341R NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 341 Albumin 2. transport metal ion binding p.Q341R(1) breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GATTTTAACCAATTTTCTTCA 0.353000 Alpha-Fetoprotein, Hereditary Persistence of 13 23 0 0 0.033300 0 0 ATP10B 23120 broad.mit.edu 37 5 160047932 160047932 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:160047932G>T ENST00000327245.5 - 15 2684 c.1838C>A c.(1837-1839)gCt>gAt p.A613D CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 613 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 p.A613D(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGTCCCCAGAGCCTTGCTTGA 0.468000 52 214 3.74213e-36 7.06027e-36 0.048971 1 0 COL24A1 255631 broad.mit.edu 37 1 86210400 86210400 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:86210400G>T ENST00000370571.2 - 57 4987 c.4621C>A c.(4621-4623)Cca>Aca p.P1541T COL24A1_ENST00000436319.1_Missense_Mutation_p.P1520T NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1541 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent p.P1541T(1) NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ATTCGTGCTGGGTTATCTCGT 0.368000 25 30 4.7796e-09 6.13262e-09 0.099896 1 0 WDR90 197335 broad.mit.edu 37 16 705382 705382 + Silent SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:705382C>T ENST00000549091.1 + 15 1724 c.1632C>T c.(1630-1632)gaC>gaT p.D544D LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.D544D NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 544 p.D544D(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GCCCCGTGGACTTAGGGGAGC 0.697000 4 13 0 0 0.014758 0 0 PJA1 64219 broad.mit.edu 37 X 68381584 68381584 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:68381584C>T ENST00000361478.1 - 2 1875 c.1498G>A c.(1498-1500)Gac>Aac p.D500N PJA1_ENST00000374571.4_Missense_Mutation_p.D445N|PJA1_ENST00000374583.1_Missense_Mutation_p.D500N|PJA1_ENST00000374584.3_Missense_Mutation_p.D312N NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 500 zinc ion binding p.D500N(1)|p.D312N(1) endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 ACACTGGAGTCATCTTCAAGG 0.483000 70 134 0 0 0.048971 0 0 KRT28 162605 broad.mit.edu 37 17 38955966 38955966 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:38955966G>A ENST00000306658.7 - 1 245 c.180C>T c.(178-180)agC>agT p.S60S NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 60 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity p.S60S(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CACCAGCATGGCTCCCACCAG 0.547000 47 33 0 0 0.048971 0 0 NAA25 80018 broad.mit.edu 37 12 112516017 112516017 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:112516017C>A ENST00000261745.4 - 7 887 c.639G>T c.(637-639)ttG>ttT p.L213F NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 213 cytoplasm protein binding p.L213F(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 TGATGACATCCAAGGCCTCCT 0.299000 35 53 1.38162e-09 1.80293e-09 0.104719 1 0 MAST4 375449 broad.mit.edu 37 5 66255082 66255082 + Missense_Mutation SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:66255082G>T ENST00000405643.1 + 1 385 c.7G>T c.(7-9)Gcc>Tcc p.A3S MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000407621.1_Missense_Mutation_p.A3S|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000403666.1_Intron O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1092 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AACCATGAAAGCCCAGCGGGA 0.478000 10 37 0.000673444 0.00073694 0.069234 1 0 ATP13A2 23400 broad.mit.edu 37 1 17330859 17330859 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:17330859C>A ENST00000452699.1 - 6 699 c.510G>T c.(508-510)tgG>tgT p.W170C RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.W170C|ATP13A2_ENST00000326735.8_Missense_Mutation_p.W175C NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 175 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.W175C(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGGTCTCGATCCAGATATAGC 0.617000 4 22 0.0293803 0.030495 0.029380 1 0 MAPK4 5596 broad.mit.edu 37 18 48256147 48256147 + Missense_Mutation SNP G G C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr18:48256147G>C ENST00000400384.2 + 6 2723 c.1687G>C c.(1687-1689)Gac>Cac p.D563H MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.D352H NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 563 cell cycle ATP binding|MAP kinase activity p.D563H(1) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TAAACTGGGCGACCTCAATGG 0.672000 9 6 0 0 0.058154 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525976 176525976 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:176525976delC ENST00000367662.3 + 2 1682 c.518delC c.(517-519)acfs p.T174fs PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.T174fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 174 Poly-Thr. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GCCACTACTACCACCGCCATT 0.577 55 133 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 216538348 216538348 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr1:216538348delC ENST00000366943.2 - 4 1117 c.731delG c.(730-732)gtfs p.G244fs USH2A_ENST00000366942.3_Frame_Shift_Del_p.G244fs|USH2A_ENST00000307340.3_Frame_Shift_Del_p.G244fs O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 244 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) TGTAATTGAACCACTTAGAGT 0.353 HNSCC(13;0.011) 23 47 --- --- --- --- FAHD2CP 729234 broad.mit.edu 37 2 96687233 96687234 + RNA DEL AG AG - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:96687233_96687234delAG ENST00000607780.1 + 0 1061 TGAAAAGCAAAGAGAGCAAGGG 0.559 4 5 --- --- --- --- TANC1 85461 broad.mit.edu 37 2 160028721 160028721 + Frame_Shift_Del DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr2:160028721delG ENST00000263635.6 + 11 1678 c.1441delG c.(1441-1443)ggfs p.G481fs TANC1_ENST00000454300.1_Frame_Shift_Del_p.G375fs NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 481 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 AACACCTCTTGGGTCTATCAG 0.453 32 66 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38044020 38044022 + In_Frame_Del DEL TCT TCT - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:38044020_38044022delTCT ENST00000283713.6 + 14 1879_1881 c.1613_1615delTCT c.(1612-1617)atc>a p.IF538del VILL_ENST00000383759.2_In_Frame_Del_p.IF538del|VILL_ENST00000465644.1_In_Frame_Del_p.IF256del O15195 VILL_HUMAN villin-like 538 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TCCAGTGACATCTTCTTGCTGGT 0.571 20 79 --- --- --- --- SEMA3F 6405 broad.mit.edu 37 3 50225491 50225491 + Frame_Shift_Del DEL T T - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:50225491delT ENST00000002829.3 + 19 2785 c.2301delT c.(2299-2301)ccfs p.P767fs SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.P736fs|SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.P668fs NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 767 Arg/Lys-rich (basic). axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CCCGGTCTCCTGAGCCCCAGG 0.687 2 4 --- --- --- --- SI 6476 broad.mit.edu 37 3 164758880 164758880 + Frame_Shift_Del DEL A A - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr3:164758880delA ENST00000264382.3 - 18 2069 c.2007delT c.(2005-2007)cafs p.H669fs NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 669 Isomaltase. 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) CAGGATCCTGATGCTGTGAGA 0.323 HNSCC(35;0.089) 23 71 --- --- --- --- MUC7 4589 broad.mit.edu 37 4 71347137 71347137 + Frame_Shift_Del DEL C C - rs144213977 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:71347137delC ENST00000413702.1 + 4 964 c.676delC c.(676-678)cafs p.P226fs MUC7_ENST00000456088.1_Frame_Shift_Del_p.P226fs|MUC7_ENST00000304887.5_Frame_Shift_Del_p.P226fs NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 226 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCAGCTCCACCATCTTCCTC 0.582 82 76 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126242180 126242181 + Frame_Shift_Ins INS - - CCATCAG TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr4:126242180_126242181insCCATCAG ENST00000394329.3 + 1 4627_4628 c.4614_4615insCCATCAG c.(4612-4617)gacatcfs p.I1539fs NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1539 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTGCTGCAGACCCATCAGCTGT 0.436 20 289 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130799906 130799906 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr5:130799906delC ENST00000509018.1 - 18 2513 c.2308delG c.(2308-2310)acfs p.D770fs RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.D770fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.D820fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.D775fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.D485fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.D770fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.D770fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 770 Ras-associating. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GCTGTGGTGTCTTTACTGATG 0.353 28 37 --- --- --- --- IL22RA2 116379 broad.mit.edu 37 6 137479601 137479602 + Frame_Shift_Ins INS - - C TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr6:137479601_137479602insC ENST00000296980.2 - 3 379_380 c.79_80insG c.(79-81)gtcfs p.V27fs IL22RA2_ENST00000339602.3_Frame_Shift_Ins_p.V27fs|IL22RA2_ENST00000349184.4_Frame_Shift_Ins_p.V27fs NM_052962.2 NP_443194.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 27 Fibronectin type-III 1. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) CTTCAGAGACTCATGCGTTGAC 0.460 30 112 --- --- --- --- ARPC1A 10552 broad.mit.edu 37 7 98963515 98963515 + Splice_Site DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:98963515delC ENST00000262942.5 + 10 1200 c.1074_splice c.e10-1 p.T359_splice ARPC1A_ENST00000432884.2_Intron NM_001190996.1|NM_006409.3 NP_001177925.1|NP_006400.2 Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 359 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) TTTTCCAAGACCCTCGAGTCT 0.577 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100369721 100369721 + RNA DEL T T - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:100369721delT ENST00000542585.1 + 0 5573 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ctctaaattcttttttttttt 0.532 3 4 --- --- --- --- LRGUK 136332 broad.mit.edu 37 7 133812369 133812370 + Frame_Shift_Ins INS - - T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:133812369_133812370insT ENST00000285928.2 + 1 318_319 c.249_250insT c.(247-252)ggaggcfs p.G84fs LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 84 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AGGGCGAGGGCGAGGCGGGATC 0.614 41 74 --- --- --- --- TRBV7-8 28590 broad.mit.edu 37 7 142099597 142099597 + RNA DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr7:142099597delG ENST00000390359.3 - 0 243 GCTTCATTCTGGAAATAAGTC 0.517 44 68 --- --- --- --- POTEA 340441 broad.mit.edu 37 8 43169415 43169415 + RNA DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:43169415delG ENST00000522175.2 + 0 768 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATCACTTTTTGGCAAAATATA 0.378 3 3 --- --- --- --- TMEM64 169200 broad.mit.edu 37 8 91643913 91643913 + Frame_Shift_Del DEL T T - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr8:91643913delT ENST00000458549.2 - 2 995 c.818delA c.(817-819)acfs p.N273fs TMEM64_ENST00000519519.1_Frame_Shift_Del_p.N12fs|TMEM64_ENST00000418210.2_Intron NM_001008495.3 NP_001008495.2 Q6YI46 TMM64_HUMAN transmembrane protein 64 273 integral to membrane endometrium(1)|large_intestine(1) 2 BRCA - Breast invasive adenocarcinoma(11;0.0598) CATCAGATAGTTGGGTAATGA 0.383 9 192 --- --- --- --- NTRK2 4915 broad.mit.edu 37 9 87342645 87342645 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:87342645delC ENST00000304053.6 + 9 1413 c.930delC c.(928-930)aafs p.N310fs NTRK2_ENST00000395882.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.N154fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.N310fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.N310fs NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 310 Ig-like C2-type 2. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGAAAGGCAACCCCAAACCAG 0.423 TSP Lung(25;0.17) 12 42 --- --- --- --- TMEM246 84302 broad.mit.edu 37 9 104238293 104238293 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr9:104238293delC ENST00000374851.1 - 4 2229 c.1082delG c.(1081-1083)gcfs p.G361fs RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Frame_Shift_Del_p.G361fs|TMEM246_ENST00000374848.3_Frame_Shift_Del_p.G361fs Q9BRR3 CI125_HUMAN transmembrane protein 246 361 integral to membrane CATGTCCTTGCCAAAGCCCTT 0.612 11 22 --- --- --- --- CEP164P1 100289237 broad.mit.edu 37 10 45551549 45551549 + RNA DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:45551549delC ENST00000456938.2 - 0 411 AAATTTGGCTCCAAAAATTGA 0.413 6 6 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95169426 95169426 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr10:95169426delC ENST00000371501.4 - 6 626 c.504delG c.(502-504)ggfs p.G168fs MYOF_ENST00000359263.4_Frame_Shift_Del_p.G168fs|MYOF_ENST00000358334.5_Frame_Shift_Del_p.G168fs|MYOF_ENST00000371489.1_Frame_Shift_Del_p.G168fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.G168fs Q9NZM1 MYOF_HUMAN myoferlin 168 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCCCAACTGGCCCCTTGGGCC 0.542 164 265 --- --- --- --- NELL1 4745 broad.mit.edu 37 11 21555993 21555993 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:21555993delC ENST00000298925.5 + 17 1956 c.1803delC c.(1801-1803)tafs p.Y601fs NELL1_ENST00000325319.5_Frame_Shift_Del_p.Y516fs|NELL1_ENST00000357134.5_Frame_Shift_Del_p.Y573fs|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000529218.1_3'UTR Q92832 NELL1_HUMAN NEL-like 1 (chicken) 573 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CAGGGTGGTACCACTGTGAGT 0.517 21 67 --- --- --- --- TRIM51HP 440041 broad.mit.edu 37 11 55065653 55065653 + RNA DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:55065653delC ENST00000526016.1 - 0 55 NR_038174.2 AAAAGCTGTGCCCACAGTCTA 0.488 18 55 --- --- --- --- OR5T2 219464 broad.mit.edu 37 11 55999938 55999938 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr11:55999938delC ENST00000313264.4 - 1 799 c.724delG c.(724-726)tgfs p.V242fs NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 242 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) ATAGAGCCCACAAAGTAGAAG 0.433 60 86 --- --- --- --- LINC00987 100499405 broad.mit.edu 37 12 9392739 9392740 + RNA INS - - TCTTCCTCCTCC rs71045240 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr12:9392739_9392740insTCTTCCTCCTCC ENST00000427111.3 + 0 141_142 NR_036466.1 caccatcaccttcttcctcccc 0.545 3 5 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36686012 36686012 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:36686012delC ENST00000255448.4 - 3 928 c.717delG c.(715-717)ggfs p.G239fs DCLK1_ENST00000379892.4_Frame_Shift_Del_p.G239fs|DCLK1_ENST00000360631.3_Frame_Shift_Del_p.G239fs NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 239 Doublecortin 2. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TTACCTGTTTCCCATCCAACG 0.483 13 81 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46549613 46549616 + Frame_Shift_Del DEL CTCT CTCT - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:46549613_46549616delCTCT ENST00000242848.4 - 12 2618_2621 c.2270_2273delAGAG c.(2269-2274)ggfs p.ER775fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.ER775fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 775 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctctctctccctctctctctcttc 0.529 30 33 --- --- --- --- GPC6 10082 broad.mit.edu 37 13 94482692 94482704 + Frame_Shift_Del DEL ACGTGCCCCGGAA ACGTGCCCCGGAA - rs143089233 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr13:94482692_94482704delACGTGCCCCGGAA ENST00000377047.4 + 3 1220_1232 c.605_617delACGTGCCCCGGAA c.(604-618)gafs p.DVPRK202fs GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 202 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.V203L(1)|p.V203M(1)|p.P204H(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CCATTTGGAGACGTGCCCCGGAAACTGAAGATT 0.502 9 50 --- --- --- --- ECRP 643332 broad.mit.edu 37 14 21388012 21388013 + RNA INS - - A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:21388012_21388013insA ENST00000258817.2 + 0 282_283 RP11-219E7.4_ENST00000553534.1_lincRNA|RP11-84C10.3_ENST00000555642.1_lincRNA NR_033909.1 TTTCTTCTTGCAACTTTTGCTA 0.406 16 17 --- --- --- --- SYT16 83851 broad.mit.edu 37 14 62567160 62567160 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr14:62567160delC ENST00000430451.2 + 6 1870 c.1673delC c.(1672-1674)tcfs p.S558fs NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 558 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CAAGAGATGTCCCGTTGCAAG 0.463 32 27 --- --- --- --- PALB2 79728 broad.mit.edu 37 16 23637683 23637683 + Frame_Shift_Del DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr16:23637683delG ENST00000261584.4 - 7 2774 c.2622delC c.(2620-2622)gcfs p.A874fs NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 874 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) CCCAAAACATGGCACTCACAT 0.443 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 22 169 --- --- --- --- MYH1 4619 broad.mit.edu 37 17 10402323 10402323 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr17:10402323delC ENST00000226207.5 - 29 4046 c.3952delG c.(3952-3954)aafs p.E1318fs CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1318 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTTTTCAGTTCCTCAATCTGT 0.393 26 85 --- --- --- --- ADAMTS10 81794 broad.mit.edu 37 19 8656874 8656875 + Frame_Shift_Ins INS - - G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:8656874_8656875insG ENST00000270328.4 - 13 1966_1967 c.1700_1701insC c.(1699-1701)gtcfs p.V567fs ADAMTS10_ENST00000595838.1_Frame_Shift_Ins_p.S58fs|ADAMTS10_ENST00000597188.1_Frame_Shift_Ins_p.V567fs Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 567 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TAGAAGAGGACACGCCGCCGCC 0.723 13 14 --- --- --- --- ZNF100 163227 broad.mit.edu 37 19 21909726 21909726 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:21909726delC ENST00000358296.6 - 5 1586 c.1388delG c.(1387-1389)gcfs p.G463fs ZNF100_ENST00000305570.6_Frame_Shift_Del_p.G399fs NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 463 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 AAAGGCTTTGCCACATTCGTC 0.403 20 18 --- --- --- --- CD22 933 broad.mit.edu 37 19 35832490 35832499 + Frame_Shift_Del DEL CTGGACACTT CTGGACACTT - rs141451390 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr19:35832490_35832499delCTGGACACTT ENST00000085219.5 + 8 1818_1827 c.1752_1761delCTGGACACTT c.(1750-1761)gcfs p.AWTL584fs CD22_ENST00000544992.2_Frame_Shift_Del_p.AWTL584fs|CD22_ENST00000270311.6_Frame_Shift_Del_p.AWTL464fs|CD22_ENST00000594250.1_Frame_Shift_Del_p.AWTL407fs|CD22_ENST00000536635.2_Frame_Shift_Del_p.AWTL496fs|CD22_ENST00000419549.2_Frame_Shift_Del_p.AWTL412fs|CD22_ENST00000341773.6_Frame_Shift_Del_p.AWTL407fs NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 584 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CGTCCAAGGCCTGGACACTTGAAGTGCTGT 0.590 8 124 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 2 4 --- --- --- --- OSM 5008 broad.mit.edu 37 22 30660280 30660281 + Frame_Shift_Ins INS - - T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chr22:30660280_30660281insT ENST00000215781.2 - 3 390_391 c.350_351insA c.(349-351)cccfs p.P117fs OSM_ENST00000403389.1_Frame_Shift_Ins_p.P96fs|OSM_ENST00000403463.1_3'UTR NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 117 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) GGGCCTTGGGGAGGCGCTGCTC 0.629 19 25 --- --- --- --- MAGEB2 4113 broad.mit.edu 37 X 30237448 30237448 + Frame_Shift_Del DEL G G - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:30237448delG ENST00000378988.4 + 2 852 c.751delG c.(751-753)atfs p.D251fs NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 251 MAGE. protein binding p.D251N(2) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CATCACCAAAGATCTGGTGCA 0.507 19 38 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 5 --- --- --- --- KDM5C 8242 broad.mit.edu 37 X 53245063 53245063 + Frame_Shift_Del DEL C C - TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0854b5b-69be-4b84-aa37-ecdd0bc14de9 b9b0fda8-ff98-4d0b-905d-38d9464cd3ab g.chrX:53245063delC ENST00000452825.3 - 5 1208 c.676delG c.(676-678)agfs p.E226fs KDM5C_ENST00000404049.3_Frame_Shift_Del_p.E292fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.E293fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.E252fs|KDM5C_ENST00000375401.3_Frame_Shift_Del_p.E293fs NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 293 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 TCCTTGCTCTCCAGGAAGGTC 0.572 """N, F, S""" clear cell renal carcinoma 36 70 --- --- --- ---