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 EP400 57634 broad.mit.edu 37 12 132490799 132490799 + Silent SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:132490799G>T ENST00000333577.4 + 15 3295 c.3186G>T c.(3184-3186)gcG>gcT p.A1062A EP400_ENST00000330386.6_Silent_p.A1026A|EP400_ENST00000332482.4_Silent_p.A989A|EP400_ENST00000389562.2_Silent_p.A1025A|EP400_ENST00000389561.2_Silent_p.A1026A Q96L91 EP400_HUMAN E1A binding protein p400 1062 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACGTCACTGCGGTGGCTGAAG 0.552000 15 51 8.60227e-14 1.30364e-13 1 1 0 IGLV5-45 28781 broad.mit.edu 37 22 22730631 22730631 + RNA SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr22:22730631C>A ENST00000390296.2 + 0 154 TCACCTGCACCTTGCGCAGTG 0.537000 11 104 0.0692343 0.0701893 1 1 0 C17orf97 400566 broad.mit.edu 37 17 263809 263809 + Missense_Mutation SNP A A T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr17:263809A>T ENST00000360127.6 + 2 1191 c.1175A>T c.(1174-1176)cAg>cTg p.Q392L AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 422 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 AGCCACAGGCAGCCCACGTCG 0.562000 18 95 0 0 1 0 0 RIPPLY2 134701 broad.mit.edu 37 6 84563854 84563854 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:84563854G>T ENST00000369689.1 + 3 364 c.213G>T c.(211-213)aaG>aaT p.K71N RIPPLY2_ENST00000369687.1_Missense_Mutation_p.K13N NM_001009994.1 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 71 somite rostral/caudal axis specification nucleus large_intestine(2)|lung(4)|urinary_tract(1) 7 CCTCAGGAAAGCTTTACCAAT 0.597000 9 57 2.17888e-05 2.64707e-05 1 1 0 IQGAP2 10788 broad.mit.edu 37 5 75907006 75907006 + Nonsense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:75907006G>T ENST00000274364.6 + 13 1816 c.1519G>T c.(1519-1521)Gga>Tga p.G507* IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.G66*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.G60*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.G60* NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 507 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ACAGAAACTCGGAGTAAGTTT 0.423000 8 72 3.09899e-07 4.17937e-07 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21779290 21779290 + Splice_Site SNP A A C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr7:21779290A>C ENST00000328843.6 + 49 7965 c.7935_splice c.e49+1 p.Q2645_splice DNAH11_ENST00000409508.3_Splice_Site_p.Q2638_splice Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2645 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CCCAGGCTACAGGTAGGGTGT 0.433000 Kartagener syndrome 6 52 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53079547 53079547 + Splice_Site SNP C C G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr8:53079547C>G ENST00000276480.7 - 11 1753 c.e11-1 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTTGGTGAATCTATGGAGAAA 0.478000 18 113 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49430423 49430423 + Missense_Mutation SNP C C G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr16:49430423C>G ENST00000299191.3 + 4 601 c.484C>G c.(484-486)Cag>Gag p.Q162E NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 162 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 TCCCATGTTACAGGAGGGTAC 0.493000 10 67 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221625 55221625 + RNA SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr19:55221625C>T ENST00000413439.1 + 0 1405 CCCTGAGCATCCTGATCGCAG 0.677000 6 41 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51503755 51503755 + Splice_Site SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:51503755C>A ENST00000371117.3 - 64 11674 c.e64-1 NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGGGTGCACCCTACAAAAAAG 0.383000 18 113 2.94398e-08 4.04454e-08 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25330615 25330615 + RNA SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr15:25330615C>A ENST00000546682.1 + 0 453 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-18_ENST00000383961.1_RNA NR_003361.1 CCTCGTCGAACTGAGGTCCAG 0.463000 15 184 1.5739e-10 2.26826e-10 1 1 0 ST8SIA4 7903 broad.mit.edu 37 5 100191888 100191888 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:100191888C>A ENST00000231461.5 - 4 1026 c.716G>T c.(715-717)tGg>tTg p.W239L NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 239 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TGCATTAACCCACTCCACGTG 0.428000 18 94 6.49762e-13 9.74643e-13 1 1 0 C9 735 broad.mit.edu 37 5 39331798 39331798 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:39331798C>A ENST00000263408.4 - 5 690 c.595G>T c.(595-597)Gtg>Ttg p.V199L C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 199 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AAAGAAGCCACGTTCCAAGGT 0.418000 13 82 4.3838e-07 5.85835e-07 1 1 0 ARG1 383 broad.mit.edu 37 6 131900276 131900276 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:131900276C>A ENST00000368087.3 + 3 295 c.156C>A c.(154-156)gaC>gaA p.D52E ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000356962.2_Missense_Mutation_p.D60E|ARG1_ENST00000476845.1_Missense_Mutation_p.D52E|MED23_ENST00000354577.4_Intron P05089 ARGI1_HUMAN arginase 1 52 arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) ATTATGGGGACCTGCCCTTTG 0.408000 13 63 7.93312e-07 1.04122e-06 1 1 0 HERC4 26091 broad.mit.edu 37 10 69699384 69699384 + Silent SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr10:69699384T>C ENST00000395198.3 - 22 2803 c.2556A>G c.(2554-2556)ccA>ccG p.P852P HERC4_ENST00000277817.6_Silent_p.P742P|HERC4_ENST00000373700.4_Silent_p.P844P|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Intron NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 852 HECT. cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TGTCATCTTCTGGATAATCCA 0.303000 10 59 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208799 58208799 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr13:58208799C>A ENST00000377918.3 + 1 2145 c.2119C>A c.(2119-2121)Ccg>Acg p.P707T NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 707 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 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) CATGTCGCTGCCGCTCATCGT 0.602000 6 73 0.217242 0.217242 1 1 0 ANKRD33 341405 broad.mit.edu 37 12 52282102 52282102 + Silent SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:52282102C>A ENST00000301190.6 + 1 359 c.132C>A c.(130-132)acC>acA p.T44T ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TCATAGATACCCTACGAACCC 0.587000 14 61 0.00316338 0.00336969 1 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182666 140182666 + Silent SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:140182666G>T ENST00000522353.2 + 1 1884 c.1884G>T c.(1882-1884)acG>acT p.T628T PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.T628T|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTGTACACGGGAGAGATCA 0.657000 10 81 2.17888e-05 2.64707e-05 1 1 0 EGF 1950 broad.mit.edu 37 4 110895916 110895916 + Missense_Mutation SNP G G C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr4:110895916G>C ENST00000265171.5 + 12 2227 c.1782G>C c.(1780-1782)aaG>aaC p.K594N EGF_ENST00000509793.1_Missense_Mutation_p.K552N|EGF_ENST00000503392.1_Missense_Mutation_p.K594N NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 594 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TAATCACTAAGGAGAACATCT 0.378000 14 58 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182665 140182665 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:140182665C>T ENST00000522353.2 + 1 1883 c.1883C>T c.(1882-1884)aCg>aTg p.T628M PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T628M|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTGTACACGGGAGAGATC 0.662000 9 81 0 0 1 0 0 FBXL14 144699 broad.mit.edu 37 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:1703090A>C ENST00000339235.3 - 1 241 c.143T>G c.(142-144)gTg>gGg p.V48G WNT5B_ENST00000537031.1_Intron NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 48 F-box.|Required for down-regulation of SNAI1. cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) CTTGGCCTCCACCCCCCGCCA 0.731000 6 6 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806021 22806021 + Nonsense_Mutation SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr18:22806021G>A ENST00000361524.3 - 4 2009 c.1861C>T c.(1861-1863)Cag>Tag p.Q621* ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q621*|ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q401* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 621 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding 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) CCTACTGCCTGCATCATCTTA 0.478000 T PAX5 ALL 14 104 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654627 46654627 + Silent SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr22:46654627C>T ENST00000253255.5 - 1 4592 c.4593G>A c.(4591-4593)ccG>ccA p.P1531P NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1531 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CGAGGGTCTCCGGGGTCTTGA 0.483000 41 212 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154542285 154542285 + Silent SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:154542285C>T ENST00000368476.3 + 3 492 c.228C>T c.(226-228)atC>atT p.I76I NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 76 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) GGGAGCAGATCATGACCACCA 0.592000 9 70 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64102006 64102006 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:64102006G>T ENST00000371083.4 + 6 1397 c.1029G>T c.(1027-1029)caG>caT p.Q343H PGM1_ENST00000540265.1_Missense_Mutation_p.Q128H|PGM1_ENST00000371084.3_Missense_Mutation_p.Q325H NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 325 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ATTTCCAGCAGACTGGGGTCC 0.547000 4 72 0.014758 0.0151708 1 1 0 VMP1 81671 broad.mit.edu 37 17 57851156 57851156 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr17:57851156G>T ENST00000262291.4 + 7 934 c.624G>T c.(622-624)atG>atT p.M208I VMP1_ENST00000537567.1_Missense_Mutation_p.M74I|VMP1_ENST00000536180.1_Missense_Mutation_p.M111I|VMP1_ENST00000545362.1_Missense_Mutation_p.M152I|VMP1_ENST00000539763.1_Missense_Mutation_p.M16I NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 208 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 CATATTTCATGGCCAGAGCAG 0.443000 9 40 1.12685e-05 1.44041e-05 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C 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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 9 3.51602e-12 5.22075e-12 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8460526 8460526 + Missense_Mutation SNP C C G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr9:8460526C>G ENST00000381196.4 - 30 4303 c.3760G>C c.(3760-3762)Gat>Cat p.D1254H PTPRD_ENST00000397606.3_Missense_Mutation_p.D833H|PTPRD_ENST00000397611.3_Missense_Mutation_p.D840H|PTPRD_ENST00000397617.3_Missense_Mutation_p.D833H|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1254H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1241H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1232H|PTPRD_ENST00000537002.1_Missense_Mutation_p.D840H|PTPRD_ENST00000486161.1_Missense_Mutation_p.D843H|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1254H|PTPRD_ENST00000355233.5_Missense_Mutation_p.D843H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1254 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGATCCAGATCCATTGACACC 0.438000 TSP Lung(15;0.13) 18 74 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129498900 129498900 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:129498900C>A ENST00000421865.2 + 10 1405 c.1356C>A c.(1354-1356)agC>agA p.S452R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 452 Laminin EGF-like 3. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGGTGTGAGCTGTGATCGGT 0.468000 6 47 1.26484e-09 1.80517e-09 1 1 0 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:135784313T>C ENST00000367800.4 - 6 1097 c.881A>G c.(880-882)cAa>cGa p.Q294R AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 294 adherens junction|cilium|microtubule basal body p.Q294R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313000 5 68 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233398954 233398954 + Missense_Mutation SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:233398954G>A ENST00000258385.3 + 11 1305 c.1273G>A c.(1273-1275)Gag>Aag p.E425K CHRND_ENST00000543200.1_Missense_Mutation_p.E410K|CHRND_ENST00000457943.2_Missense_Mutation_p.E231K NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 425 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AGCAAGCTCTGAGCAGGCCCA 0.577000 7 45 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30622597 30622597 + Silent SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:30622597T>C ENST00000376442.3 - 19 3078 c.2883A>G c.(2881-2883)acA>acG p.T961T DHX16_ENST00000376437.5_Silent_p.T480T NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 961 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 GCTGTTTCACTGTGCGGTAGC 0.522000 8 52 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64504339 64504339 + Silent SNP G G C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:64504339G>C ENST00000377494.1 - 8 1903 c.981C>G c.(979-981)acC>acG p.T327T RASGRP2_ENST00000377497.3_Silent_p.T327T|RASGRP2_ENST00000394432.3_Silent_p.T327T|RASGRP2_ENST00000354024.3_Silent_p.T327T Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 327 Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGTTGAGCCGGGTCCGGGCTG 0.662000 4 12 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61958143 61958143 + Silent SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr10:61958143G>A ENST00000280772.1 - 14 1835 c.1644C>T c.(1642-1644)gcC>gcT p.A548A ANK3_ENST00000373827.2_Silent_p.A542A|ANK3_ENST00000503366.1_Silent_p.A531A NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 548 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAAGGAACGCGGCCACATCCT 0.498000 9 67 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326825 57326825 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr19:57326825C>A ENST00000326441.9 - 10 3348 c.2985G>T c.(2983-2985)aaG>aaT p.K995N ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K871N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K869N|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K995N NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 995 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) TTCCAGAGGGCTTCTCCCTAT 0.507000 10 84 2.17888e-05 2.64707e-05 1 1 0 NDN 4692 broad.mit.edu 37 15 23932083 23932083 + Silent SNP G G C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr15:23932083G>C ENST00000331837.4 - 1 367 c.282C>G c.(280-282)gcC>gcG p.A94A NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 94 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GCTGCGCCGGGGCTGGCGGTG 0.682000 Prader-Willi syndrome 4 33 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8046912 8046912 + Silent SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr4:8046912C>A ENST00000318888.4 - 9 1021 c.150G>T c.(148-150)ggG>ggT p.G50G ABLIM2_ENST00000361581.5_Silent_p.G293G|ABLIM2_ENST00000546334.1_Silent_p.G293G|ABLIM2_ENST00000514025.1_Silent_p.G50G|ABLIM2_ENST00000341937.5_Silent_p.G293G|ABLIM2_ENST00000447017.2_Silent_p.G293G|ABLIM2_ENST00000407564.3_Silent_p.G293G|ABLIM2_ENST00000545242.1_Silent_p.G293G|ABLIM2_ENST00000428004.2_Silent_p.G293G|ABLIM2_ENST00000296372.8_Silent_p.G293G|ABLIM2_ENST00000361737.5_Silent_p.G293G|ABLIM2_ENST00000505872.1_Silent_p.G293G Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 293 LIM zinc-binding 1. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GGCTCGGAGACCCTGAGGTGC 0.557000 5 73 3.59834e-05 4.3357e-05 1 1 0 RASSF9 9182 broad.mit.edu 37 12 86199251 86199251 + Missense_Mutation SNP A A T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:86199251A>T ENST00000361228.3 - 2 905 c.537T>A c.(535-537)gaT>gaA p.D179E NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 179 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TATTATCTCGATCATGAGAAA 0.368000 23 131 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194117578 194117578 + Silent SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr3:194117578C>T ENST00000401815.1 - 1 1505 c.1434G>A c.(1432-1434)ccG>ccA p.P478P GP5_ENST00000323007.3_Silent_p.P478P P40197 GPV_HUMAN glycoprotein V (platelet) 478 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) ggcggggaggcgggccccggg 0.776000 7 43 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945679 53945679 + RNA SNP T T G rs12986193 by1000genomes TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr19:53945679T>G 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) GAGGAAGAGATGAAGATTCTT 0.438000 4 69 0 0 1 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110036074 110036074 + Missense_Mutation SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:110036074G>A ENST00000453089.2 + 5 3052 c.2171G>A c.(2170-2172)cGa>cAa p.R724Q ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R755Q|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R756Q Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 755 endonuclease activity|nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TCTGACTCTCGACTTTATGAC 0.562000 13 138 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354041 17354041 + RNA SNP T T C rs7715898 by1000genomes TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:17354041T>C ENST00000511821.1 + 0 23 FTH1P10_ENST00000401830.3_RNA TCCGCCAAGCTAGATTCGGGT 0.488000 4 52 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862826 14862826 + Silent SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr3:14862826C>A ENST00000285046.5 + 1 2358 c.2248C>A c.(2248-2250)Cgg>Agg p.R750R FGD5_ENST00000543601.1_Silent_p.R509R NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 750 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 NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AGACCGCTCCCGGCCGCCCTT 0.567000 30 177 9.04072e-19 1.44455e-18 1 1 0 CRB1 23418 broad.mit.edu 37 1 197390744 197390744 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:197390744C>A ENST00000367400.3 + 6 1921 c.1786C>A c.(1786-1788)Cct>Act p.P596T CRB1_ENST00000535699.1_Missense_Mutation_p.P527T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P77T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.P596T|CRB1_ENST00000367399.2_Missense_Mutation_p.P484T NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 596 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGCGAAAGCTCCTACTCCACT 0.458000 24 97 9.95505e-16 1.57354e-15 1 1 0 MAGED1 9500 broad.mit.edu 37 X 51644715 51644715 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chrX:51644715G>T ENST00000375695.2 + 13 2347 c.2194G>T c.(2194-2196)Gct>Tct p.A732S MAGED1_ENST00000375772.3_Missense_Mutation_p.A676S|MAGED1_ENST00000326587.7_Missense_Mutation_p.A676S|MAGED1_ENST00000375722.1_Missense_Mutation_p.A676S|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 676 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 breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GGCCTTGGATGCTCTGGATGC 0.542000 Multiple Myeloma(10;0.10) 5 12 1.23904e-05 1.55674e-05 1 1 0 AFAP1L1 134265 broad.mit.edu 37 5 148689530 148689530 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:148689530C>A ENST00000296721.4 + 8 857 c.759C>A c.(757-759)agC>agA p.S253R AFAP1L1_ENST00000515000.1_Missense_Mutation_p.S253R NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 253 PH 1. protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTACAAAAGCTCCAAGGATC 0.552000 7 56 0.00307968 0.00330447 1 1 0 ZC3H10 84872 broad.mit.edu 37 12 56514687 56514687 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:56514687G>T ENST00000257940.2 + 3 617 c.341G>T c.(340-342)cGg>cTg p.R114L RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 114 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) CTTCCCCCACGGCTGAGGCAG 0.552000 13 63 7.03913e-09 9.94953e-09 1 1 0 NRXN1 9378 broad.mit.edu 37 2 50464012 50464012 + Missense_Mutation SNP A A G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:50464012A>G ENST00000404971.1 - 19 4920 c.3581T>C c.(3580-3582)aTa>aCa p.I1194T NRXN1_ENST00000405472.3_Missense_Mutation_p.I1146T|NRXN1_ENST00000342183.5_Missense_Mutation_p.I119T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1154T|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1154T|NRXN1_ENST00000401710.1_Missense_Mutation_p.I172T|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1146T|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1154T NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1154 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCTAAAACCTATGGCCAGTCT 0.473000 12 67 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944216 55944216 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:55944216G>T ENST00000312298.1 + 1 123 c.123G>T c.(121-123)agG>agT p.R41S NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CCTTGTTGAGGAATCTGGGCA 0.413000 40 180 6.1244e-12 9.00287e-12 1 1 0 MC2R 4158 broad.mit.edu 37 18 13884723 13884723 + Silent SNP G G T rs141349908 byFrequency TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr18:13884723G>T ENST00000327606.3 - 2 975 c.795C>A c.(793-795)atC>atA p.I265I NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 265 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) CATTGCACATGATCAACATGC 0.517000 19 79 5.03518e-11 7.32844e-11 1 1 0 LGR5 8549 broad.mit.edu 37 12 71977982 71977982 + Nonsense_Mutation SNP T T A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:71977982T>A ENST00000266674.5 + 18 2503 c.2192T>A c.(2191-2193)tTg>tAg p.L731* LGR5_ENST00000540815.2_Nonsense_Mutation_p.L707*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.L659* O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 731 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GCTCTCATCTTGCTCAATTCC 0.542000 25 91 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325369 9325369 + Missense_Mutation SNP C C T rs112089905 TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr19:9325369C>T ENST00000308682.2 - 1 173 c.145G>A c.(145-147)Gtc>Atc p.V49I NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TCAGAGCTGACGGCCAGAATG 0.552000 18 90 0 0 1 0 0 ASB10 136371 broad.mit.edu 37 7 150878440 150878440 + Silent SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr7:150878440C>A ENST00000422024.1 - 3 950 c.825G>T c.(823-825)ctG>ctT p.L275L ASB10_ENST00000275838.1_Silent_p.L230L|ASB10_ENST00000420175.2_Silent_p.L230L|ASB10_ENST00000434669.1_Silent_p.L275L|ASB10_ENST00000377867.3_Silent_p.L215L NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 230 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAGATCTGCCAGCTCCACAT 0.632000 5 32 0.00116845 0.00129144 1 1 0 RBBP7 5931 broad.mit.edu 37 X 16875781 16875781 + Missense_Mutation SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chrX:16875781T>C ENST00000380087.2 - 5 893 c.533A>G c.(532-534)gAa>gGa p.E178G RBBP7_ENST00000404022.1_Missense_Mutation_p.E169G|RBBP7_ENST00000380084.4_Missense_Mutation_p.E222G Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 178 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) ACCATAGCCTTCCTTCTGGTG 0.373000 27 71 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164741476 164741476 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr3:164741476C>A ENST00000264382.3 - 26 3043 c.2981G>T c.(2980-2982)gGt>gTt p.G994V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 994 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) AGCTGTTATACCCATGGATGA 0.403000 HNSCC(35;0.089) 10 90 0.00829132 0.00876852 1 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209603 140209603 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:140209603C>T ENST00000529310.1 + 1 2041 c.1927C>T c.(1927-1929)Ccg>Tcg p.P643S PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGGACTCTCCGCGCCACCG 0.682000 7 82 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37209995 37209995 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr19:37209995C>A ENST00000585696.1 + 3 1506 c.276C>A c.(274-276)aaC>aaA p.N92K ZNF567_ENST00000392163.2_Missense_Mutation_p.N92K|ZNF567_ENST00000360729.4_Missense_Mutation_p.N92K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.N123K|ZNF567_ENST00000588311.1_Missense_Mutation_p.N92K Q8N184 ZN567_HUMAN zinc finger protein 567 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TAGGCAAAAACCCTGTGAATT 0.323000 10 60 2.17888e-05 2.64707e-05 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2800109 2800109 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr8:2800109G>T ENST00000520002.1 - 70 10978 c.10423C>A c.(10423-10425)Caa>Aaa p.Q3475K CSMD1_ENST00000537824.1_Missense_Mutation_p.Q3474K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q3298K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q3298K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q3475K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q3297K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3475 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAAGAGTCTTGATCTGGGTTT 0.368000 5 11 0.014758 0.0151708 1 1 0 C2CD2 25966 broad.mit.edu 37 21 43321743 43321743 + Silent SNP T T A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr21:43321743T>A ENST00000380486.3 - 12 1789 c.1548A>T c.(1546-1548)tcA>tcT p.S516S C2CD2_ENST00000329623.7_Silent_p.S361S NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 516 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 TGGAGATCCCTGATATGATAA 0.507000 8 75 0 0 1 0 0 ADM 133 broad.mit.edu 37 11 10328160 10328160 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:10328160C>A ENST00000528655.1 + 3 1147 c.530C>A c.(529-531)cCg>cAg p.P177Q ADM_ENST00000534464.1_Missense_Mutation_p.P130Q|ADM_ENST00000530439.1_Missense_Mutation_p.P109Q|ADM_ENST00000278175.5_Missense_Mutation_p.P177Q|ADM_ENST00000525063.1_Missense_Mutation_p.P177Q P35318 ADML_HUMAN adrenomedullin 177 blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding cytoplasm|extracellular space|soluble fraction hormone activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1) 6 all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257) CCAGCCCCCCCGAGTGGAAGT 0.667000 7 25 0.000157383 0.000182168 1 1 0 REG3A 5068 broad.mit.edu 37 2 79385471 79385471 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:79385471C>A ENST00000393878.1 - 3 568 c.314G>T c.(313-315)gGg>gTg p.G105V REG3A_ENST00000409839.3_Missense_Mutation_p.G105V|REG3A_ENST00000305165.2_Missense_Mutation_p.G105V NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 105 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 GTCATGGAGCCCAATCCAGAC 0.577000 6 47 0.0293803 0.0299924 1 1 0 SCN4A 6329 broad.mit.edu 37 17 62024444 62024444 + Silent SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr17:62024444C>A ENST00000578147.1 - 18 3478 c.3402G>T c.(3400-3402)ctG>ctT p.L1134L SCN4A_ENST00000435607.1_Silent_p.L1134L P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1134 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCAGGGGACGCAGGGCCCGCA 0.667000 OREG0024655 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 27 0.00909568 0.00948273 1 1 0 PCDHB11 56125 broad.mit.edu 37 5 140580845 140580845 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:140580845C>A ENST00000354757.3 + 1 1498 c.1498C>A c.(1498-1500)Ctc>Atc p.L500I PCDHB11_ENST00000536699.1_Missense_Mutation_p.L135I NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 500 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCTGCCCCTCGCCTCCCT 0.652000 31 187 2.46105e-21 4.01972e-21 1 1 0 MASP1 5648 broad.mit.edu 37 3 186947563 186947563 + Missense_Mutation SNP C C T rs140743904 TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr3:186947563C>T ENST00000337774.5 - 11 1815 c.1426G>A c.(1426-1428)Gga>Aga p.G476R NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 476 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AGGGAGCCTCCGCAGAAGGGC 0.557000 5 29 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45605540 45605540 + Silent SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr14:45605540T>C ENST00000267430.5 + 1 391 c.306T>C c.(304-306)gcT>gcC p.A102A FANCM_ENST00000556036.1_Silent_p.A102A|FANCM_ENST00000542564.2_Silent_p.A102A NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 102 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CCCGGGCTGCTCTGTTTTGCA 0.562000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 9 73 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071185 70071185 + Silent SNP A A G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:70071185A>G ENST00000370598.1 + 29 4841 c.4020A>G c.(4018-4020)ctA>ctG p.L1340L BAI3_ENST00000238918.8_Silent_p.L546L|BAI3_ENST00000546190.1_Silent_p.L304L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1340 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATGAAAGGCTATTGCACTACA 0.403000 10 77 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54721312 54721312 + Missense_Mutation SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr19:54721312G>A ENST00000391750.1 - 13 1761 c.1625C>T c.(1624-1626)aCg>aTg p.T542M LILRB3_ENST00000407860.2_Missense_Mutation_p.T559M|LILRA6_ENST00000270464.5_Missense_Mutation_p.T543M|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.T542M|LILRB3_ENST00000346401.6_Missense_Mutation_p.T554M|LILRB3_ENST00000424807.1_Missense_Mutation_p.T542M|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.T543M|LILRB3_ENST00000245620.9_Missense_Mutation_p.T543M O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 542 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGGGGCATACGTCACTGCCTG 0.572000 5 89 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62631267 62631267 + Missense_Mutation SNP G G C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr10:62631267G>C ENST00000337910.5 - 11 2401 c.2064C>G c.(2062-2064)ttC>ttG p.F688L RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.F688L NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 688 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ATGAATTCCAGAAGCACCACT 0.423000 16 74 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204944444 204944444 + Missense_Mutation SNP G G C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:204944444G>C ENST00000367172.4 + 15 1932 c.1604G>C c.(1603-1605)aGg>aCg p.R535T NFASC_ENST00000360049.4_Missense_Mutation_p.R546T|NFASC_ENST00000367169.4_Missense_Mutation_p.R535T|NFASC_ENST00000367170.4_Missense_Mutation_p.R535T|NFASC_ENST00000401399.1_Missense_Mutation_p.R535T|NFASC_ENST00000338586.6_Missense_Mutation_p.R535T|NFASC_ENST00000403080.1_Missense_Mutation_p.R535T|NFASC_ENST00000513543.1_Missense_Mutation_p.R546T|NFASC_ENST00000339876.6_Missense_Mutation_p.R535T|NFASC_ENST00000539706.1_Missense_Mutation_p.R546T|NFASC_ENST00000367171.4_Missense_Mutation_p.R535T|NFASC_ENST00000404076.1_Missense_Mutation_p.R529T|NFASC_ENST00000404907.1_Missense_Mutation_p.R546T|NFASC_ENST00000338515.6_Missense_Mutation_p.R535T O94856 NFASC_HUMAN neurofascin 535 Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTGGCCAGAAGGGGCACCACG 0.622000 OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 96 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080327 126080327 + Silent SNP A A G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:126080327A>G ENST00000368364.3 + 5 590 c.393A>G c.(391-393)acA>acG p.T131T HEY2_ENST00000368365.1_Silent_p.T85T NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 131 Orange. negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) AGTGCCTAACAGAAGTTGCGC 0.572000 12 71 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267415 107267415 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr9:107267415G>T ENST00000334726.2 + 1 961 c.872G>T c.(871-873)aGt>aTt p.S291I NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATCATCTATAGTCTACGGAAC 0.398000 10 65 7.48243e-07 9.90916e-07 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77763939 77763939 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr8:77763939G>T ENST00000521891.2 + 10 5230 c.4782G>T c.(4780-4782)aaG>aaT p.K1594N ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1549N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1568N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1549N NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1549 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACCCTACAAGTGCAGCATCT 0.468000 HNSCC(33;0.089) 9 45 1.12685e-05 1.44041e-05 1 1 0 ANKRD33 341405 broad.mit.edu 37 12 52282103 52282103 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:52282103C>A ENST00000301190.6 + 1 360 c.133C>A c.(133-135)Cta>Ata p.L45I ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CATAGATACCCTACGAACCCC 0.587000 14 62 0.00244969 0.00264783 1 1 0 NAALAD2 10003 broad.mit.edu 37 11 89903267 89903267 + Missense_Mutation SNP C C G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:89903267C>G ENST00000534061.1 + 13 1603 c.1373C>G c.(1372-1374)cCc>cGc p.P458R NAALAD2_ENST00000321955.4_Missense_Mutation_p.P425R|NAALAD2_ENST00000375944.3_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 458 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GACTGTACTCCCCTTCTTTAC 0.299000 12 127 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2172480 2172480 + Silent SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr4:2172480G>A ENST00000511885.2 - 13 1833 c.1480C>T c.(1480-1482)Ctg>Ttg p.L494L POLN_ENST00000382865.1_Silent_p.L494L|POLN_ENST00000515357.1_5'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 494 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AGCAGGTGCAGCTTTAACTTG 0.433000 DNA polymerases (catalytic subunits) 11 71 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109792683 109792683 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr13:109792683C>T ENST00000356711.2 + 32 4183 c.4057C>T c.(4057-4059)Cgc>Tgc p.R1353C MYO16_ENST00000357550.2_Missense_Mutation_p.R1353C NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1353 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAAGCCCAAGCGCAGCCCCAA 0.701000 7 27 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511283 195511283 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr3:195511283C>T ENST00000463781.3 - 2 7627 c.7168G>A c.(7168-7170)Gct>Act p.A2390T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 148 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A2390T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGAGGAAGCGTCGGTGACA 0.592000 4 1 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013113 247013113 + Silent SNP T T A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:247013113T>A ENST00000366508.1 - 33 6436 c.6300A>T c.(6298-6300)tcA>tcT p.S2100S AHCTF1_ENST00000326225.3_Silent_p.S2074S|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.S2065S Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 2065 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGCGTTCTTCTGATACTGAGT 0.413000 12 90 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156899136 156899136 + Missense_Mutation SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:156899136G>A ENST00000337428.7 + 10 1215 c.1061G>A c.(1060-1062)aGc>aAc p.S354N LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 354 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 GTAGGGATCAGCAATAGTGCA 0.532000 6 21 0 0 1 0 0 C5orf24 134553 broad.mit.edu 37 5 134191112 134191112 + Missense_Mutation SNP T T G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:134191112T>G ENST00000394976.3 + 2 750 c.522T>G c.(520-522)caT>caG p.H174Q C5orf24_ENST00000435259.2_Missense_Mutation_p.H174Q|C5orf24_ENST00000504727.1_Intron|C5orf24_ENST00000338051.4_Missense_Mutation_p.H174Q NM_001135586.1 NP_001129058.1 Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 174 breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAGCAGTTCATGGGGTAGAGG 0.478000 8 87 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263807 39263807 + Nonsense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr13:39263807C>T ENST00000280481.7 + 1 2542 c.2326C>T c.(2326-2328)Caa>Taa p.Q776* NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 776 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCATTTTACCCAAGCCCAGAT 0.557000 5 51 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212293135 212293135 + Missense_Mutation SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:212293135T>C ENST00000342788.4 - 22 3027 c.2717A>G c.(2716-2718)tAt>tGt p.Y906C ERBB4_ENST00000402597.1_Missense_Mutation_p.Y896C|ERBB4_ENST00000436443.1_Missense_Mutation_p.Y906C NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 906 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTATTTACCATAGCTCCAAAC 0.308000 TSP Lung(8;0.080) 14 82 0 0 1 0 0 SAA2 6289 broad.mit.edu 37 11 18267008 18267008 + Silent SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:18267008C>A ENST00000526900.1 - 4 468 c.285G>T c.(283-285)ctG>ctT p.L95L SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Silent_p.L95L|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Silent_p.L95L|SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CCTGATCGGCCAGCGAGTCCT 0.552000 7 55 0.00198382 0.00216016 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168105687 168105687 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:168105687G>T ENST00000409195.1 + 9 7874 c.7785G>T c.(7783-7785)gaG>gaT p.E2595D XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2373D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2595D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2420 H -> Y (in dbSNP:rs16853329). actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCAATGAGGAGGTTTCCCTAT 0.408000 6 94 0.000151284 0.000177911 1 1 0 HPX 3263 broad.mit.edu 37 11 6459662 6459662 + Silent SNP T T G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:6459662T>G ENST00000265983.3 - 5 514 c.414A>C c.(412-414)ggA>ggC p.G138G HPX_ENST00000525057.1_5'UTR NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 138 Hemopexin-like 2. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGGATGGGATTCCAGGAAATT 0.488000 12 96 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1480944 1480944 + Silent SNP C C G rs146101536 byFrequency TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:1480944C>G ENST00000345913.4 + 8 997 c.906C>G c.(904-906)ggC>ggG p.G302G TPO_ENST00000382201.3_Silent_p.G302G|TPO_ENST00000346956.3_Silent_p.G302G|TPO_ENST00000337415.3_Silent_p.G302G|TPO_ENST00000329066.4_Silent_p.G302G|TPO_ENST00000349624.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 302 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGACCAAGGCGCGCTCTTTG 0.716000 4 14 0 0 1 0 0 TMEM106B 54664 broad.mit.edu 37 7 12270709 12270709 + Silent SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr7:12270709C>T ENST00000396667.2 + 8 976 c.654C>T c.(652-654)tcC>tcT p.S218S TMEM106B_ENST00000396668.3_Silent_p.S218S NM_018374.3 NP_060844.2 Q9NUM4 T106B_HUMAN transmembrane protein 106B 218 integral to membrane NS(1)|endometrium(8)|large_intestine(2)|lung(7) 18 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) CTCTGATATCCATCAAAGTGC 0.279000 12 69 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390745 197390745 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:197390745C>A ENST00000367400.3 + 6 1922 c.1787C>A c.(1786-1788)cCt>cAt p.P596H CRB1_ENST00000535699.1_Missense_Mutation_p.P527H|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.P77H|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.P596H|CRB1_ENST00000367399.2_Missense_Mutation_p.P484H NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 596 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GCGAAAGCTCCTACTCCACTT 0.458000 24 98 3.5997e-14 5.51204e-14 1 1 0 FYB 2533 broad.mit.edu 37 5 39202550 39202550 + Silent SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:39202550G>T ENST00000351578.6 - 2 703 c.513C>A c.(511-513)ccC>ccA p.P171P FYB_ENST00000512982.1_Silent_p.P171P|FYB_ENST00000540520.1_Silent_p.P181P|FYB_ENST00000515010.1_Silent_p.P171P|FYB_ENST00000505428.1_Silent_p.P171P NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 171 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CAGTCAATTTGGGAAACGCTT 0.493000 13 95 1.5842e-08 2.21788e-08 1 1 0 SLC22A16 85413 broad.mit.edu 37 6 110757116 110757116 + Missense_Mutation SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:110757116T>C ENST00000368919.3 - 6 1426 c.1360A>G c.(1360-1362)Atc>Gtc p.I454V SLC22A16_ENST00000330550.4_Missense_Mutation_p.I420V|SLC22A16_ENST00000439654.1_Missense_Mutation_p.I454V NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 454 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GCTGCCCCGATGGCAAATTTT 0.353000 10 69 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354037 17354037 + RNA SNP A A G rs7733712 by1000genomes TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr5:17354037A>G ENST00000511821.1 + 0 19 FTH1P10_ENST00000401830.3_RNA ATATTCCGCCAAGCTAGATTC 0.493000 4 49 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55304318 55304318 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr6:55304318C>T ENST00000398661.2 - 9 1056 c.925G>A c.(925-927)Ggt>Agt p.G309S HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G176S|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G279S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G247S|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G113S NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 309 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GGGCAGCCACCTAATCCGGAT 0.418000 14 92 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146465924 146465924 + Missense_Mutation SNP G G A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:146465924G>A ENST00000442909.2 + 82 10635 c.9799G>A c.(9799-9801)Gac>Aac p.D3267N NBPF12_ENST00000446760.2_3'UTR|NBPF12_ENST00000309471.8_3'UTR neuroblastoma breakpoint family, member 12 ovary(2) 2 AGTCTTGCAGGACTCACTGGA 0.453000 12 148 0 0 1 0 0 PEX1 5189 broad.mit.edu 37 7 92131237 92131237 + Nonsense_Mutation SNP G G A rs61750418 TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr7:92131237G>A ENST00000248633.4 - 14 2478 c.2383C>T c.(2383-2385)Cga>Tga p.R795* PEX1_ENST00000428214.1_Nonsense_Mutation_p.R738*|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Nonsense_Mutation_p.R473* NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 795 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) CGAGAGAGTCGAGAATGTATG 0.393000 25 169 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5906276 5906276 + Missense_Mutation SNP T T A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:5906276T>A ENST00000316987.2 + 1 776 c.754T>A c.(754-756)Ttt>Att p.F252I NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGCTGTGCTTTTACACACC 0.418000 23 143 0 0 1 0 0 KHK 3795 broad.mit.edu 37 2 27315292 27315292 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:27315292C>T ENST00000260599.6 + 2 698 c.185C>T c.(184-186)tCa>tTa p.S62L KHK_ENST00000260598.5_Missense_Mutation_p.S62L|KHK_ENST00000490823.1_3'UTR NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 62 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCATGGGCTCAATGGCTCCT 0.602000 5 37 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89053965 89053965 + Missense_Mutation SNP C C G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr8:89053965C>G ENST00000286614.6 - 10 1829 c.1548G>C c.(1546-1548)aaG>aaC p.K516N NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 516 Hemopexin-like 4. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CAGGTTCTACCTTGAGTATCT 0.423000 10 58 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35731265 35731265 + Missense_Mutation SNP A A G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr13:35731265A>G ENST00000540320.1 + 21 3236 c.2702A>G c.(2701-2703)tAt>tGt p.Y901C NBEA_ENST00000400445.3_Missense_Mutation_p.Y901C|NBEA_ENST00000379939.2_Missense_Mutation_p.Y901C|NBEA_ENST00000310336.4_Missense_Mutation_p.Y901C Q8NFP9 NBEA_HUMAN neurobeachin 901 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCTCTTGGCTATATCAATCCT 0.343000 36 115 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 619638 619638 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr4:619638G>T ENST00000255622.6 + 1 266 c.223G>T c.(223-225)Gtg>Ttg p.V75L PDE6B_ENST00000496514.1_Missense_Mutation_p.V75L NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 75 GAF 1. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CATGGAGCGCGTGGTCTTCAA 0.677000 6 23 0.00116845 0.00129144 1 1 0 DCT 1638 broad.mit.edu 37 13 95117947 95117947 + Missense_Mutation SNP T T C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr13:95117947T>C ENST00000377028.5 - 4 1216 c.803A>G c.(802-804)gAc>gGc p.D268G DCT_ENST00000446125.1_Missense_Mutation_p.D268G|DCT_ENST00000490854.1_5'UTR NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 268 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AGTCGGATCGTCTGGTCTCGC 0.502000 8 54 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425487 49425487 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr12:49425487G>T ENST00000301067.7 - 39 13000 c.13001C>A c.(13000-13002)gCc>gAc p.A4334D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGGAGCTGGGCCTCAGTGGG 0.632000 7 13 0.00198382 0.00216016 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105414031 105414031 + Missense_Mutation SNP A A G TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr14:105414031A>G ENST00000333244.5 - 7 7876 c.7757T>C c.(7756-7758)cTa>cCa p.L2586P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2586 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTGACATCTAGCTGGGGGCC 0.627000 42 216 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695193 247695193 + Missense_Mutation SNP A A T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:247695193A>T ENST00000366487.3 - 2 982 c.621T>A c.(619-621)ttT>ttA p.F207L GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 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;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GCAGGACAACAAAGACAAAGC 0.537000 6 60 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37898639 37898639 + Missense_Mutation SNP C C T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr17:37898639C>T ENST00000309156.4 + 2 342 c.85C>T c.(85-87)Cgg>Tgg p.R29W GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.R29W|GRB7_ENST00000394204.1_Missense_Mutation_p.R29W|GRB7_ENST00000394209.2_Missense_Mutation_p.R29W|GRB7_ENST00000445327.2_Missense_Mutation_p.R52W|GRB7_ENST00000394211.3_Missense_Mutation_p.R29W NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 29 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGGACTCCCCGGCCCCCTGA 0.642000 24 97 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105688 168105688 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:168105688G>T ENST00000409195.1 + 9 7875 c.7786G>T c.(7786-7788)Gtt>Ttt p.V2596F XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2374F|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2596F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2421 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAATGAGGAGGTTTCCCTATC 0.408000 6 93 0.000151284 0.000177911 1 1 0 TTC17 55761 broad.mit.edu 37 11 43413036 43413036 + Silent SNP A A T rs148543674 TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:43413036A>T ENST00000039989.4 + 4 455 c.441A>T c.(439-441)acA>acT p.T147T TTC17_ENST00000299240.6_Silent_p.T147T|RP11-484D2.4_ENST00000394183.2_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 147 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ATATAGACACAGAATCTCCTG 0.333000 9 72 0 0 1 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132397 59132397 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr11:59132397G>T ENST00000313940.2 + 1 513 c.466G>T c.(466-468)Gct>Tct p.A156S NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 TGGCCTCACTGCTTCTTTATT 0.463000 31 128 1.55811e-20 2.51695e-20 1 1 0 NOTCH2 4853 broad.mit.edu 37 1 120462955 120462955 + Missense_Mutation SNP C C A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr1:120462955C>A ENST00000256646.2 - 30 5595 c.5376G>T c.(5374-5376)caG>caT p.Q1792H NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1792 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCAAGGTGCTGCTGTGTCC 0.537000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 11 62 3.03607e-14 4.69792e-14 1 1 0 CAMK2B 816 broad.mit.edu 37 7 44266159 44266159 + Missense_Mutation SNP G G T TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr7:44266159G>T ENST00000395749.2 - 20 1629 c.1553C>A c.(1552-1554)cCg>cAg p.P518Q CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000347193.4_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 518 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TGGGCAGGGCGGGGGCCCCAC 0.701000 9 7 0.000274275 0.000312546 1 1 0 KCNF1 3754 broad.mit.edu 37 2 11053814 11053814 + Frame_Shift_Del DEL C C - TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr2:11053814delC ENST00000295082.1 + 1 1752 c.1262delC c.(1261-1263)acfs p.T421fs NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 421 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GTCCTGGAGACCGCGGCCAAG 0.617 7 40 --- --- --- --- RFC4 5984 broad.mit.edu 37 3 186507965 186507966 + Frame_Shift_Ins INS - - CAGA TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr3:186507965_186507966insCAGA ENST00000392481.2 - 10 1242_1243 c.961_962insTCTG c.(961-963)taafs p.*321fs RFC4_ENST00000433496.1_Frame_Shift_Ins_p.*294fs|RFC4_ENST00000296273.2_Frame_Shift_Ins_p.*321fs NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 321 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTTCTGTTTATCAGATAAGTTA 0.337 7 61 --- --- --- --- TMPRSS11A 339967 broad.mit.edu 37 4 68795617 68795617 + Frame_Shift_Del DEL G G - TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr4:68795617delG ENST00000508048.1 - 5 494 c.459delC c.(457-459)gcfs p.A153fs RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.A154fs|TMPRSS11A_ENST00000334830.7_Frame_Shift_Del_p.A157fs Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 157 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GAACTGATGAGGCATTTATTG 0.368 8 104 --- --- --- --- TRAM1L1 133022 broad.mit.edu 37 4 118006146 118006147 + Frame_Shift_Ins INS - - A TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr4:118006146_118006147insA ENST00000310754.4 - 1 589_590 c.403_404insT c.(403-405)gggfs p.G135fs NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 135 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 GAATGTGCCCCAAATACAAGAA 0.371 15 99 --- --- --- --- EPHB4 2050 broad.mit.edu 37 7 100417234 100417234 + Frame_Shift_Del DEL G G - TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr7:100417234delG ENST00000358173.3 - 6 1710 c.1242delC c.(1240-1242)tcfs p.S414fs EPHB4_ENST00000360620.3_Frame_Shift_Del_p.S414fs|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 414 Fibronectin type-III 1. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGTGGCTAAGGAGGATACCC 0.632 7 86 --- --- --- --- IGHV2-70 28454 broad.mit.edu 37 14 107179086 107179086 + RNA DEL C C - TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3e96f8f-ccd1-4caa-a66b-703d27e0402d ab058faa-934d-4331-9e43-530024ad4d02 g.chr14:107179086delC ENST00000390634.2 - 0 166 GTGGGTTTCACCAGCGCAGGA 0.527 11 78 --- --- --- ---