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 HDLBP 3069 broad.mit.edu 37 2 242202218 242202218 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:242202218C>A ENST00000391975.1 - 5 585 c.358G>T c.(358-360)Gcc>Tcc p.A120S HDLBP_ENST00000391976.2_Missense_Mutation_p.A120S|HDLBP_ENST00000427183.2_Missense_Mutation_p.A156S|HDLBP_ENST00000310931.4_Missense_Mutation_p.A120S NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 120 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) TGGTCTTTGGCCAAAGACAGC 0.478000 39 60 2.19489e-29 3.0637e-29 1 1 0 NELL1 4745 broad.mit.edu 37 11 21581913 21581913 + Silent SNP T T C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:21581913T>C ENST00000298925.5 + 18 2202 c.2049T>C c.(2047-2049)tcT>tcC p.S683S NELL1_ENST00000357134.5_Silent_p.S655S|NELL1_ENST00000325319.5_Silent_p.S598S|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000532434.1_Silent_p.S608S Q92832 NELL1_HUMAN NEL-like 1 (chicken) 655 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACAGGTGTTCTGTCTGCTCCT 0.542000 11 40 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38266439 38266439 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr13:38266439C>A ENST00000379705.3 - 4 1788 c.931G>T c.(931-933)Gca>Tca p.A311S TRPC4_ENST00000379673.2_Missense_Mutation_p.A311S|TRPC4_ENST00000379679.1_Missense_Mutation_p.A138S|TRPC4_ENST00000426868.2_Missense_Mutation_p.A311S|TRPC4_ENST00000447043.1_Missense_Mutation_p.A311S|TRPC4_ENST00000355779.2_Missense_Mutation_p.A311S|TRPC4_ENST00000338947.5_Missense_Mutation_p.A138S|TRPC4_ENST00000379681.3_Missense_Mutation_p.A311S|TRPC4_ENST00000358477.2_Missense_Mutation_p.A311S Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 311 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAGCGAGATGCCAGCAGCTGT 0.448000 6 14 0.217242 0.218328 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107923922 107923922 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:107923922G>T ENST00000328300.6 + 45 4200 c.3956G>T c.(3955-3957)cGg>cTg p.R1319L COL4A5_ENST00000361603.2_Missense_Mutation_p.R1313L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1313 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AATCCTGGCCGGCCGGGTCTC 0.418000 Alport syndrome with Diffuse Leiomyomatosis 20 17 8.10497e-08 9.15224e-08 1 1 0 EXD3 54932 broad.mit.edu 37 9 140289766 140289766 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:140289766C>T ENST00000340951.4 - 2 239 c.44G>A c.(43-45)cGc>cAc p.R15H EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000465160.2_Missense_Mutation_p.R15H|EXD3_ENST00000479452.1_Missense_Mutation_p.R15H NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 15 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CATGCGGTGGCGCTCGCCAGC 0.687000 4 50 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87439919 87439919 + Missense_Mutation SNP A A G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:87439919A>G ENST00000517970.1 + 11 1512 c.1205A>G c.(1204-1206)cAt>cGt p.H402R WWP1_ENST00000265428.4_Missense_Mutation_p.H402R|WWP1_ENST00000341922.2_Missense_Mutation_p.H272R|WWP1_ENST00000349423.2_Missense_Mutation_p.H184R NM_007013.3 NP_008944.1 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 1 402 WW 2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 TATGTGGATCATAACACCAGA 0.388000 68 149 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978703 247978703 + Missense_Mutation SNP A A C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:247978703A>C ENST00000357627.1 - 1 328 c.329T>G c.(328-330)cTg>cGg p.L110R NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GAGGAGGAGCAGCTCTGCAGA 0.473000 18 128 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 36007510 36007510 + Nonsense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:36007510G>T ENST00000297866.5 + 16 2854 c.2788G>T c.(2788-2790)Gaa>Taa p.E930* NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 930 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGAAGAAGGAGAATTTATTCT 0.383000 39 15 1.04594e-18 1.37408e-18 1 1 0 FMN2 56776 broad.mit.edu 37 1 240370748 240370748 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:240370748C>A ENST00000319653.9 + 5 2866 c.2636C>A c.(2635-2637)cCa>cAa p.P879Q NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 879 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GTGCCTCCCCCACCTCCCCCT 0.602000 30 143 8.16721e-17 1.03246e-16 1 1 0 ERC2 26059 broad.mit.edu 37 3 55733405 55733405 + Splice_Site SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:55733405C>A ENST00000288221.6 - 16 3103 c.e16+1 NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ATGAAACTGACCTGGTCCGGA 0.433000 50 150 9.40368e-32 1.32178e-31 1 1 0 IARS2 55699 broad.mit.edu 37 1 220273896 220273896 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:220273896G>T ENST00000366922.1 + 3 570 c.239G>T c.(238-240)gGc>gTc p.G80V IARS2_ENST00000302637.5_Missense_Mutation_p.G152V Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 152 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TTTGTGCCCGGCTGGGATTGT 0.343000 41 49 9.73076e-26 1.33053e-25 1 1 0 AMOTL1 154810 broad.mit.edu 37 11 94599178 94599178 + Missense_Mutation SNP A A C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:94599178A>C ENST00000433060.2 + 11 2474 c.2333A>C c.(2332-2334)aAa>aCa p.K778T AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.K728T NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 778 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CGATCTCGTAAAGATGCCGGG 0.478000 13 42 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 8 54 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 16 0 0 1 0 0 OR5W2 390148 broad.mit.edu 37 11 55682056 55682056 + Translation_Start_Site SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:55682056C>T ENST00000344514.1 - 1 2 c.3G>A c.(1-3)atG>atA p.M1I NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTTCCCAGTCCATTCTTCCTT 0.343000 26 35 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1230954 1230954 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:1230954C>T ENST00000590083.1 - 9 1592 c.1300G>A c.(1300-1302)Gga>Aga p.G434R C19orf26_ENST00000382477.2_Intron|C19orf26_ENST00000215376.6_Missense_Mutation_p.G428R Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 253 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGTGAGTCCGCCTCTGGGA 0.731000 HNSCC(14;0.022) 41 15 0 0 1 0 0 CFHR3 10878 broad.mit.edu 37 1 196762482 196762482 + Missense_Mutation SNP A A G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:196762482A>G ENST00000367425.4 + 6 924 c.832A>G c.(832-834)Aat>Gat p.N278D CFHR3_ENST00000391985.3_Missense_Mutation_p.N217D NM_021023.5 NP_066303.2 complement factor H-related 3 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 CATGAATAAAAATAACATAAA 0.269000 17 102 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43152486 43152486 + RNA SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:43152486C>A ENST00000522175.2 + 0 474 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGGCACTGATCCAAATCTTCC 0.393000 48 85 6.34439e-16 7.97014e-16 1 1 0 FOXA3 3171 broad.mit.edu 37 19 46375619 46375619 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:46375619C>T ENST00000302177.2 + 2 553 c.356C>T c.(355-357)cCg>cTg p.P119L NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 119 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) GCCAAGCCACCGTATTCCTAT 0.627000 30 84 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20174334 20174334 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:20174334G>A ENST00000345530.3 - 7 746 c.631C>T c.(631-633)Cat>Tat p.H211Y WDR35_ENST00000281405.4_Missense_Mutation_p.H211Y|WDR35_ENST00000416055.2_5'UTR NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 211 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGTACCAATGAATTCCAGCA 0.368000 23 30 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15870823 15870823 + Nonsense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr21:15870823C>A ENST00000285670.2 - 8 1237 c.1063G>T c.(1063-1065)Gaa>Taa p.E355* SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.E119*|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.E287*|SAMSN1_ENST00000463807.1_5'UTR NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 287 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCTGGGTTTTCAATATTTAAT 0.363000 37 21 2.42023e-17 3.09851e-17 1 1 0 OR5J2 282775 broad.mit.edu 37 11 55945001 55945001 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:55945001G>A ENST00000312298.1 + 1 908 c.908G>A c.(907-909)aGg>aAg p.R303K NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 303 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) GCAGTGAAAAGGGCCATAGAA 0.388000 15 49 0 0 1 0 0 KREMEN1 83999 broad.mit.edu 37 22 29517411 29517411 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr22:29517411C>T ENST00000400338.2 + 4 472 c.419C>T c.(418-420)aCg>aTg p.T140M KREMEN1_ENST00000400335.4_Missense_Mutation_p.T140M|KREMEN1_ENST00000327813.5_Missense_Mutation_p.T140M|KREMEN1_ENST00000407188.1_Missense_Mutation_p.T138M Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 138 WSC. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 ACCAGTAAAACGTCCAACAAA 0.403000 30 43 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103405969 103405969 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:103405969G>T ENST00000358392.2 - 43 3651 c.3334C>A c.(3334-3336)Cct>Act p.P1112T COL11A1_ENST00000353414.4_Missense_Mutation_p.P1061T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1100T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P984T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1100 Triple-helical region. Missing (in STL2). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTCCCTGCAGGCCCTTGGGGA 0.468000 25 10 2.21704e-12 2.62132e-12 1 1 0 GSTA2 2939 broad.mit.edu 37 6 52622776 52622776 + Splice_Site SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr6:52622776C>G ENST00000493422.1 - 2 126 c.e2-1 NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) TTCTCTAAGCCtgagtgaatg 0.433000 19 49 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84216552 84216552 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:84216552G>A ENST00000405413.2 - 13 1713 c.1577C>T c.(1576-1578)gCt>gTt p.A526V HPSE_ENST00000513463.1_Missense_Mutation_p.A468V|HPSE_ENST00000512196.1_Missense_Mutation_p.A452V|HPSE_ENST00000311412.5_Missense_Mutation_p.A526V NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 526 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) ATATGAGAAAGCTGGCAAGCC 0.388000 51 82 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874903 33874903 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr20:33874903C>T ENST00000374408.3 - 4 1775 c.1679G>A c.(1678-1680)cGa>cAa p.R560Q NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 560 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) ACCCAGGGCTCGGGACAGGAG 0.662000 18 39 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29786199 29786199 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:29786199C>A ENST00000256062.5 - 6 1158 c.685G>T c.(685-687)Gac>Tac p.D229Y TMTC1_ENST00000551659.1_Missense_Mutation_p.D399Y|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.D399Y|TMTC1_ENST00000381224.2_Missense_Mutation_p.D291Y|TMTC1_ENST00000539277.1_Missense_Mutation_p.D337Y NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 337 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) ACCTGCCAGTCATAGCACAGG 0.498000 96 45 1.29119e-40 1.85378e-40 1 1 0 KLHL21 9903 broad.mit.edu 37 1 6655607 6655607 + Missense_Mutation SNP C C T rs147251785 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:6655607C>T ENST00000377663.3 - 3 1621 c.1438G>A c.(1438-1440)Gct>Act p.A480T KLHL21_ENST00000377658.4_Missense_Mutation_p.A480T|KLHL21_ENST00000463043.1_Missense_Mutation_p.A113T|KLHL21_ENST00000467612.1_Missense_Mutation_p.A113T Q9UJP4 KLH21_HUMAN kelch-like family member 21 480 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) TCCACCTCAGCGGAGTCATCC 0.587000 10 17 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129847916 129847916 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr10:129847916C>T ENST00000254667.3 + 6 685 c.406C>T c.(406-408)Cgg>Tgg p.R136W PTPRE_ENST00000306042.5_Missense_Mutation_p.R78W|PTPRE_ENST00000471218.1_Missense_Mutation_p.S134L|PTPRE_ENST00000419012.2_Missense_Mutation_p.R136W|PTPRE_ENST00000430713.2_Missense_Mutation_p.R136W NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 136 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CAAGCAGTTTCGGGAGGAGTT 0.562000 15 52 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1137214 1137214 + Missense_Mutation SNP G G C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:1137214G>C ENST00000397203.2 + 2 551 c.145G>C c.(145-147)Ggc>Cgc p.G49R ERC1_ENST00000355446.5_Missense_Mutation_p.G49R|ERC1_ENST00000360905.4_Missense_Mutation_p.G49R|ERC1_ENST00000543086.3_Missense_Mutation_p.G49R|ERC1_ENST00000546231.2_Missense_Mutation_p.G49R|ERC1_ENST00000589028.1_Missense_Mutation_p.G49R Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 49 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TGTTGGAGGTGGCAGTGGGAA 0.527000 99 74 0 0 1 0 0 LIN9 286826 broad.mit.edu 37 1 226455689 226455689 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:226455689C>T ENST00000328205.5 - 8 1378 c.833G>A c.(832-834)gGa>gAa p.G278E LIN9_ENST00000481685.1_Missense_Mutation_p.G243E|LIN9_ENST00000366801.1_Missense_Mutation_p.G227E NM_173083.3 NP_775106.2 Q5TKA1 LIN9_HUMAN lin-9 homolog (C. elegans) 262 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) GGTATGGGTTCCAAGCCCTGT 0.353000 14 69 0 0 1 0 0 MYOG 4656 broad.mit.edu 37 1 203053044 203053044 + Silent SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:203053044G>T ENST00000241651.4 - 3 743 c.669C>A c.(667-669)ccC>ccA p.P223P NM_002479.4 NP_002470.2 P15173 MYOG_HUMAN myogenin (myogenic factor 4) 223 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1) 12 AATCTCAGTTGGGCATGGTTT 0.587000 5 10 0.0215528 0.0217694 1 1 0 SLC44A2 57153 broad.mit.edu 37 19 10747091 10747091 + Silent SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:10747091G>A ENST00000586078.1 + 15 1435 c.1326G>A c.(1324-1326)ctG>ctA p.L442L SLC44A2_ENST00000407327.4_Silent_p.L440L|SLC44A2_ENST00000335757.5_Silent_p.L442L NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 442 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) ACCGGGCCCTGCTGGGCCTGC 0.627000 57 65 0 0 1 0 0 NIT1 4817 broad.mit.edu 37 1 161088957 161088957 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:161088957C>G ENST00000368008.1 + 3 191 c.132C>G c.(130-132)tgC>tgG p.C44W NIT1_ENST00000392190.5_Missense_Mutation_p.C8W|NIT1_ENST00000368007.4_Missense_Mutation_p.C29W|NIT1_ENST00000368009.2_Missense_Mutation_p.C44W|NIT1_ENST00000496861.1_3'UTR NM_001185092.1 NP_001172021.1 Q86X76 NIT1_HUMAN nitrilase 1 44 nitrogen compound metabolic process mitochondrion nitrilase activity NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1) 12 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTTCCTCCTGCGAACTGCCCC 0.522000 26 140 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478711 14478711 + RNA SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr18:14478711G>T ENST00000581457.1 - 0 1197 NR_024076.1 ACCATGAAGTGGGCATTTTCT 0.368000 7 40 1.06961e-07 1.20107e-07 1 1 0 OTOP1 133060 broad.mit.edu 37 4 4228226 4228226 + Silent SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:4228226G>A ENST00000296358.4 - 1 390 c.366C>T c.(364-366)cgC>cgT p.R122R NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 122 biomineral tissue development extracellular space|integral to membrane p.R122R(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCCTTGAGGCGGAAGAGGC 0.716000 3 11 0 0 1 0 0 DSCR4 10281 broad.mit.edu 37 21 39493332 39493332 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr21:39493332C>A ENST00000328264.3 - 1 122 c.18G>T c.(16-18)ttG>ttT p.L6F DSCR4_ENST00000398948.1_Missense_Mutation_p.L6F NM_005867.2 NP_005858.1 P56555 DSCR4_HUMAN Down syndrome critical region gene 4 6 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 catctctcgtcaagatgatta 0.488000 11 20 2.27111e-07 2.53607e-07 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168102371 168102371 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:168102371C>A ENST00000409195.1 + 9 4558 c.4469C>A c.(4468-4470)gCt>gAt p.A1490D XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1490D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1268D|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1315 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 GTTAAGCAGGCTGTGTGGCTT 0.393000 71 69 3.07281e-33 4.34955e-33 1 1 0 YME1L1 10730 broad.mit.edu 37 10 27423040 27423040 + Silent SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr10:27423040G>T ENST00000326799.3 - 8 1022 c.874C>A c.(874-876)Cga>Aga p.R292R YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.R235R|YME1L1_ENST00000375972.3_Silent_p.R202R NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 292 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 AGACGGGTTCGCCTTAGGGAA 0.323000 17 45 7.21436e-19 9.54005e-19 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_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) 31 21 1.88708e-17 2.43144e-17 1 1 0 DYSF 8291 broad.mit.edu 37 2 71797812 71797812 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:71797812C>T ENST00000258104.3 + 29 3392 c.3115C>T c.(3115-3117)Cgg>Tgg p.R1039W DYSF_ENST00000409366.1_Missense_Mutation_p.R1040W|DYSF_ENST00000394120.2_Missense_Mutation_p.R1040W|DYSF_ENST00000409744.1_Missense_Mutation_p.R1026W|DYSF_ENST00000429174.2_Missense_Mutation_p.R1039W|DYSF_ENST00000409582.3_Missense_Mutation_p.R1056W|DYSF_ENST00000410020.3_Missense_Mutation_p.R1057W|DYSF_ENST00000410041.1_Missense_Mutation_p.R1057W|DYSF_ENST00000413539.2_Missense_Mutation_p.R1070W|DYSF_ENST00000409762.1_Missense_Mutation_p.R1056W|DYSF_ENST00000409651.1_Missense_Mutation_p.R1071W NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1039 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CACACACCGACGGCGGCGCTG 0.637000 15 33 0 0 1 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33896716 33896716 + Missense_Mutation SNP T T A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:33896716T>A ENST00000307296.3 + 15 2461 c.2084T>A c.(2083-2085)gTt>gAt p.V695D PDCD6IP_ENST00000457054.2_Missense_Mutation_p.V700D Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 695 Interaction with EIAV p9.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 AGTGATATAGTTTTTGCACGG 0.318000 29 97 0 0 1 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77491933 77491933 + Missense_Mutation SNP T T A rs141239534 byFrequency TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr14:77491933T>A ENST00000238647.3 - 1 3101 c.2203A>T c.(2203-2205)Agc>Tgc p.S735C NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 735 Cys-rich. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 AATTTGTGGCTGGGGACGGAA 0.587000 39 59 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51902186 51902186 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:51902186G>T ENST00000268919.4 + 1 1948 c.1792G>T c.(1792-1794)Gtt>Ttt p.V598F NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 598 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GATTGAAGAGGTTGAAACATT 0.418000 12 153 2.80697e-09 3.22401e-09 1 1 0 PPFIA3 8541 broad.mit.edu 37 19 49641581 49641581 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:49641581C>T ENST00000334186.4 + 16 2322 c.1973C>T c.(1972-1974)tCc>tTc p.S658F PPFIA3_ENST00000602351.1_Missense_Mutation_p.S658F NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 658 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CTGCCCCCCTCCCTCACCACC 0.677000 31 15 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797442 127797442 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr6:127797442C>T ENST00000556132.1 - 6 2593 c.1729G>A c.(1729-1731)Gga>Aga p.G577R SOGA3_ENST00000525778.1_Missense_Mutation_p.G577R|SOGA3_ENST00000481848.2_Missense_Mutation_p.G577R|SOGA3_ENST00000368268.2_Missense_Mutation_p.G577R|SOGA3_ENST00000465909.2_Missense_Mutation_p.G577R NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 577 integral to membrane GGAGGGCCTCCGGCTTCTCCT 0.532000 11 108 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122641181 122641181 + Missense_Mutation SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:122641181A>T ENST00000303924.4 - 2 937 c.400T>A c.(400-402)Ttc>Atc p.F134I NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 134 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ACTTCACTGAAGATGTCCATC 0.428000 57 442 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33588493 33588493 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:33588493G>T ENST00000404816.2 + 29 4660 c.4307G>T c.(4306-4308)tGc>tTc p.C1436F LTBP1_ENST00000407925.1_Missense_Mutation_p.C1110F|LTBP1_ENST00000418533.2_Missense_Mutation_p.C1068F|LTBP1_ENST00000272273.5_Missense_Mutation_p.C334F|LTBP1_ENST00000390003.4_Missense_Mutation_p.C1111F|LTBP1_ENST00000404525.1_Missense_Mutation_p.C1057F|LTBP1_ENST00000402934.1_Missense_Mutation_p.C1055F|LTBP1_ENST00000354476.3_Missense_Mutation_p.C1437F Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1436 EGF-like 15; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAAGAAATCTGCAAAAATGGT 0.383000 45 57 2.95478e-19 3.93318e-19 1 1 0 MTA2 9219 broad.mit.edu 37 11 62362104 62362104 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:62362104C>A ENST00000278823.2 - 16 1965 c.1576G>T c.(1576-1578)Gcc>Tcc p.A526S MTA2_ENST00000527204.1_Missense_Mutation_p.A353S|MTA2_ENST00000524902.1_Missense_Mutation_p.A353S NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 526 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GGTGCCTGGGCCACTGGAAAA 0.522000 14 65 4.93089e-13 5.97054e-13 1 1 0 DOCK6 57572 broad.mit.edu 37 19 11353740 11353740 + Missense_Mutation SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:11353740A>T ENST00000294618.7 - 13 1486 c.1475T>A c.(1474-1476)gTg>gAg p.V492E NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 492 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CGCACCAGTCACAGGACGTAG 0.582000 OREG0025252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 57 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80327718 80327718 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:80327718G>T ENST00000358842.3 - 1 1654 c.1637C>A c.(1636-1638)gCa>gAa p.A546E NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 546 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GATATATCTTGCTCCAATTAG 0.393000 14 62 0.000151284 0.00016089 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139399812 139399812 + Silent SNP G G A rs61751540 by1000genomes TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:139399812G>A ENST00000277541.6 - 25 4611 c.4536C>T c.(4534-4536)gcC>gcT p.A1512A NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1512 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGAGGCAGCCGGCTGAGTTGC 0.597000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 15 0 0 1 0 0 FAM71C 196472 broad.mit.edu 37 12 100042229 100042229 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:100042229G>T ENST00000324341.1 + 1 699 c.277G>T c.(277-279)Gct>Tct p.A93S ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 93 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CCGACCAGCTGCTGTCTGTGA 0.552000 24 159 1.10513e-12 1.32221e-12 1 1 0 NKX2-4 644524 broad.mit.edu 37 20 21376892 21376892 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr20:21376892C>T ENST00000351817.4 - 2 1350 c.722G>A c.(721-723)cGg>cAg p.R241Q NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 241 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 CATCTTGTACCGGTGGTTCTG 0.692000 9 17 0 0 1 0 0 CEP170P1 645455 broad.mit.edu 37 4 119475217 119475217 + RNA SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:119475217C>A ENST00000412784.2 + 0 928 NR_003135.2 TAGAGTCAACCCTGATGGGGA 0.408000 5 15 0.000602214 0.000623944 1 1 0 GALNT15 117248 broad.mit.edu 37 3 16250090 16250090 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:16250090G>A ENST00000339732.5 + 4 1495 c.992G>A c.(991-993)gGg>gAg p.G331E GALNT15_ENST00000437509.1_Missense_Mutation_p.G331E NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.G331V(1) CTGCAGCGTGGGGTGTTGGAC 0.527000 40 127 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17750171 17750171 + Nonsense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:17750171G>T ENST00000380060.3 + 8 4818 c.4480G>T c.(4480-4482)Gaa>Taa p.E1494* NHS_ENST00000398097.3_Nonsense_Mutation_p.E1338* NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1494 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CACATCCAATGAAGAGTTTAA 0.488000 5 86 0.000602214 0.000623944 1 1 0 POTEA 340441 broad.mit.edu 37 8 43197450 43197450 + RNA SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:43197450C>A ENST00000522175.2 + 0 1203 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GCTCATTGAACAACTCAAAAT 0.363000 21 107 8.34094e-07 9.06231e-07 1 1 0 IRF2BPL 64207 broad.mit.edu 37 14 77492110 77492110 + Missense_Mutation SNP T T C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr14:77492110T>C ENST00000238647.3 - 1 2924 c.2026A>G c.(2026-2028)Aac>Gac p.N676D NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 676 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 AGGTCCCCGTTACGTGATGCC 0.672000 21 42 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994079 143994079 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:143994079C>T ENST00000323110.2 - 8 1267 c.1265G>A c.(1264-1266)cGg>cAg p.R422Q NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 422 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGGATTATACCGCTCAGGCCT 0.622000 Familial Hyperaldosteronism type I 44 109 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129962506 129962506 + Missense_Mutation SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:129962506A>T ENST00000222482.4 + 11 1284 c.1256A>T c.(1255-1257)aAc>aTc p.N419I CPA4_ENST00000493259.1_Missense_Mutation_p.N315I|CPA4_ENST00000445470.2_Missense_Mutation_p.N386I NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 419 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GTGCGGGACAACCTCTACTAG 0.547000 48 48 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74418510 74418510 + Missense_Mutation SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:74418510A>T ENST00000263665.6 - 7 803 c.776T>A c.(775-777)aTt>aAt p.I259N NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 259 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCTCCAATTAATCTGAGGTAT 0.383000 23 63 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125788526 125788526 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:125788526C>T ENST00000263576.6 + 10 1197 c.1042C>T c.(1042-1044)Cgt>Tgt p.R348C DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 348 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) TACATAGACTCGTCGAAACGC 0.537000 9 33 0 0 1 0 0 NDRG4 65009 broad.mit.edu 37 16 58528891 58528891 + Silent SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr16:58528891G>A ENST00000394282.4 + 3 563 c.156G>A c.(154-156)ttG>ttA p.L52L NDRG4_ENST00000394279.2_Silent_p.L32L|NDRG4_ENST00000258187.5_Silent_p.L32L NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 0 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 CCTTCCTCTTGGCTGCAGACA 0.632000 6 21 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100211254 100211254 + Nonsense_Mutation SNP G G T rs137921044 byFrequency TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:100211254G>T ENST00000393950.2 + 3 718 c.436G>T c.(436-438)Gga>Tga p.G146* MOSPD3_ENST00000223054.4_Nonsense_Mutation_p.G146*|MOSPD3_ENST00000424091.2_Nonsense_Mutation_p.G136*|MOSPD3_ENST00000379527.2_Nonsense_Mutation_p.G146* NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 146 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGAGCTTCAGGGACAGCCAGA 0.627000 23 73 6.44725e-10 7.44769e-10 1 1 0 MRPL38 64978 broad.mit.edu 37 17 73900774 73900774 + Translation_Start_Site SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:73900774G>T ENST00000409963.3 - 0 540 RP11-552F3.12_ENST00000587556.1_3'UTR|MRPL38_ENST00000585475.1_Intron|MRPL38_ENST00000309352.3_Missense_Mutation_p.L32M Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) ATCGGCCCCAGCGGGGGTGTC 0.721000 3 12 0.000602214 0.000623944 1 1 0 TENM2 57451 broad.mit.edu 37 5 167674260 167674260 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr5:167674260G>A ENST00000519204.1 + 26 6071 c.5953G>A c.(5953-5955)Gtc>Atc p.V1985I TENM2_ENST00000403607.2_Missense_Mutation_p.V1930I|TENM2_ENST00000518659.1_Missense_Mutation_p.V2106I|TENM2_ENST00000545108.1_Missense_Mutation_p.V2105I|TENM2_ENST00000520394.1_Missense_Mutation_p.V1867I teneurin transmembrane protein 2 CATCAAGCCCGTCATAAGTGA 0.488000 35 116 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236917318 236917318 + Silent SNP T T G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:236917318T>G ENST00000366578.4 + 16 2077 c.1911T>G c.(1909-1911)cgT>cgG p.R637R ACTN2_ENST00000542672.1_Silent_p.R637R|ACTN2_ENST00000546208.1_Silent_p.R131R NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 637 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTAACGAGCGTCTGAGGCGCC 0.602000 38 104 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17750172 17750172 + Missense_Mutation SNP A A C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:17750172A>C ENST00000380060.3 + 8 4819 c.4481A>C c.(4480-4482)gAa>gCa p.E1494A NHS_ENST00000398097.3_Missense_Mutation_p.E1338A NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1494 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) ACATCCAATGAAGAGTTTAAG 0.483000 5 85 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98760934 98760934 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr10:98760934C>A ENST00000266058.4 - 37 4785 c.4540G>T c.(4540-4542)Gat>Tat p.D1514Y ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1514 CTCK. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GAGGTCCCATCGCTGCACTCA 0.672000 28 96 4.87955e-14 5.94418e-14 1 1 0 CLCN7 1186 broad.mit.edu 37 16 1509122 1509122 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr16:1509122C>A ENST00000382745.4 - 7 1266 c.661G>T c.(661-663)Gtg>Ttg p.V221L CLCN7_ENST00000262318.8_Missense_Mutation_p.V197L|CLCN7_ENST00000448525.1_Missense_Mutation_p.V197L NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 221 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) AGCCGCACCACGTGGGGGATC 0.657000 8 23 0.000157383 0.000166495 1 1 0 MRPL38 64978 broad.mit.edu 37 17 73900770 73900770 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:73900770C>A ENST00000309352.3 - 2 635 c.98G>T c.(97-99)gGg>gTg p.G33V RP11-552F3.12_ENST00000587556.1_3'UTR|MRPL38_ENST00000585475.1_Intron|MRPL38_ENST00000409963.3_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 33 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGCATCGGCCCCAGCGGGGG 0.726000 3 13 0.014758 0.0149816 1 1 0 CYP39A1 51302 broad.mit.edu 37 6 46605583 46605583 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr6:46605583C>A ENST00000275016.2 - 4 824 c.621G>T c.(619-621)ttG>ttT p.L207F NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 207 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 GACACTCTGGCAACTGGGACC 0.328000 4 75 0.00909568 0.00928036 1 1 0 FAM214B 80256 broad.mit.edu 37 9 35105221 35105221 + Silent SNP G G C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:35105221G>C ENST00000378561.1 - 8 4669 c.1614C>G c.(1612-1614)ccC>ccG p.P538P FAM214B_ENST00000378557.1_Silent_p.P538P|FAM214B_ENST00000322813.5_Silent_p.P538P|FAM214B_ENST00000378566.1_Silent_p.P233P|FAM214B_ENST00000603301.1_Silent_p.P538P|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000488109.2_Silent_p.P538P|FAM214B_ENST00000605244.1_Silent_p.P538P Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 538 nucleus CTGGCAATCAGGGCAAAGGTG 0.552000 13 15 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110428002 110428002 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr5:110428002G>T ENST00000506538.2 + 1 589 c.16G>T c.(16-18)Ggc>Tgc p.G6C WDR36_ENST00000513710.2_Missense_Mutation_p.G6C NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 6 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TTGCACTGAGGGCAGTCTCCG 0.592000 25 62 8.24728e-16 1.02963e-15 1 1 0 TMEM225 338661 broad.mit.edu 37 11 123756029 123756029 + Missense_Mutation SNP T T A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:123756029T>A ENST00000375026.2 - 1 320 c.104A>T c.(103-105)gAa>gTa p.E35V NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 35 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TGAAATCAATTCAACCCATTT 0.428000 5 96 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73840388 73840388 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:73840388G>A ENST00000207549.4 - 1 410 c.31C>T c.(31-33)Cgc>Tgc p.R11C UNC13D_ENST00000412096.2_Missense_Mutation_p.R11C NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 11 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGGGAGGGCGCTGCTGCGGA 0.617000 Familial Hemophagocytic Lymphohistiocytosis 8 21 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93118469 93118469 + Missense_Mutation SNP A A T rs139103248 byFrequency TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr14:93118469A>T ENST00000216487.7 + 6 1234 c.1075A>T c.(1075-1077)Atg>Ttg p.M359L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 359 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GGAGGAAGCGATGAAGCCAGG 0.682000 21 53 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3425170 3425170 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:3425170C>T ENST00000589123.1 + 3 722 c.602C>T c.(601-603)aCg>aTg p.T201M NFIC_ENST00000443272.2_Missense_Mutation_p.T210M|NFIC_ENST00000395111.3_Missense_Mutation_p.T201M|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000341919.3_Missense_Mutation_p.T210M|NFIC_ENST00000590282.1_Missense_Mutation_p.T210M|NFIC_ENST00000346156.5_Intron NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 210 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AAGCCCATCACGCTGGGTGAG 0.587000 7 16 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702135 181702135 + Silent SNP A A C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:181702135A>C ENST00000526775.1 + 19 3021 c.2856A>C c.(2854-2856)ccA>ccC p.P952P CACNA1E_ENST00000357570.5_Silent_p.P922P|CACNA1E_ENST00000360108.3_Silent_p.P952P|CACNA1E_ENST00000367567.4_Silent_p.P578P|CACNA1E_ENST00000358338.5_Silent_p.P903P|CACNA1E_ENST00000367573.2_Silent_p.P971P|CACNA1E_ENST00000367570.1_Silent_p.P971P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 971 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCAAGGAGCCAACGATCCAAG 0.562000 12 64 0 0 1 0 0 FAM110B 90362 broad.mit.edu 37 8 59059512 59059512 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:59059512C>T ENST00000361488.3 + 5 1603 c.723C>T c.(721-723)gcC>gcT p.A241A FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 241 microtubule organizing center|mitochondrion|nucleus p.A241A(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CCCCCGAGGCCGACCCTGTGG 0.622000 20 135 0 0 1 0 0 PABPN1 8106 broad.mit.edu 37 14 23793490 23793490 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr14:23793490C>T ENST00000397276.2 + 6 886 c.873C>T c.(871-873)cgC>cgT p.R291R BCL2L2-PABPN1_ENST00000553781.1_Silent_p.R318R|PABPN1_ENST00000216727.4_Silent_p.R291R|PABPN1_ENST00000556821.1_Silent_p.R163R|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.R318R|PABPN1_ENST00000557702.1_Silent_p.R163R poly(A) binding protein, nuclear 1 large_intestine(1)|lung(1)|ovary(2) 4 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) CCCGGGGTCGCGTCTACAGGT 0.632000 25 124 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28922453 28922453 + Missense_Mutation SNP G G C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr16:28922453G>C ENST00000358201.4 - 6 1530 c.942C>G c.(940-942)gaC>gaG p.D314E RABEP2_ENST00000544477.1_Missense_Mutation_p.D243E|RABEP2_ENST00000357573.6_Intron NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 314 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CTTGGAGCTCGTCCCGCTCGC 0.677000 18 48 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688658 55688658 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:55688658C>T ENST00000358433.2 - 1 358 c.359G>A c.(358-360)cGc>cAc p.R120H NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGCAACGTAGCGGTCATAGGA 0.398000 81 47 0 0 1 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714945 92714945 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:92714945C>T ENST00000257068.2 + 2 562 c.556C>T c.(556-558)Cgc>Tgc p.R186C NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 186 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GTACGACCCACGCATCTATTC 0.617000 5 36 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167228 140167228 + Silent SNP C C T rs143660641 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr5:140167228C>T ENST00000504120.2 + 1 1353 c.1353C>T c.(1351-1353)aaC>aaT p.N451N PCDHA1_ENST00000394633.3_Silent_p.N451N|PCDHA1_ENST00000378133.3_Silent_p.N451N NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATGACAACGCGCCTGCGT 0.677000 31 77 0 0 1 0 0 RNF115 27246 broad.mit.edu 37 1 145663350 145663350 + Missense_Mutation SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:145663350A>T ENST00000369291.4 + 4 615 c.411A>T c.(409-411)agA>agT p.R137S NM_014455.2 NP_055270.1 Q9Y4L5 RN115_HUMAN ring finger protein 115 137 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 GTCCTGACAGATCTCCAGCTA 0.428000 35 82 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16173332 16173332 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr16:16173332C>T ENST00000399408.2 + 16 2287 c.2112C>T c.(2110-2112)atC>atT p.I704I ABCC1_ENST00000349029.5_Silent_p.I704I|ABCC1_ENST00000346370.5_Silent_p.I704I|ABCC1_ENST00000345148.5_Silent_p.I704I|ABCC1_ENST00000399410.3_Silent_p.I704I|ABCC1_ENST00000351154.5_Silent_p.I704I P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 704 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACGTGGCTATCAAGGTAGGAT 0.592000 7 41 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7690864 7690864 + Missense_Mutation SNP A A C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr5:7690864A>C ENST00000338316.4 + 5 870 c.781A>C c.(781-783)Atc>Ctc p.I261L ADCY2_ENST00000537121.1_Missense_Mutation_p.I81L|ADCY2_ENST00000513693.1_3'UTR NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 261 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGCGGAGATCATCCAGAGGCT 0.562000 4 32 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073609 134073609 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:134073609G>T ENST00000264360.4 + 1 3140 c.2314G>T c.(2314-2316)Ggc>Tgc p.G772C NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 772 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GACCTGCTGTGGCCGCCAAGC 0.582000 9 43 0.000274275 0.000288635 1 1 0 CLCA4 22802 broad.mit.edu 37 1 87045966 87045966 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:87045966C>G ENST00000370563.3 + 14 2740 c.2698C>G c.(2698-2700)Ctg>Gtg p.L900V RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 900 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TATTTCTACGCTGGTATTGTC 0.358000 10 23 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414269 20414269 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:20414269C>G ENST00000380338.4 - 5 861 c.575G>C c.(574-576)aGt>aCt p.S192T MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S189T NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 192 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTTTGAAAAACTGGTActact 0.502000 T MLL ALL 56 101 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183887980 183887980 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:183887980G>T ENST00000313143.3 + 14 1933 c.1685G>T c.(1684-1686)gGg>gTg p.G562V DVL3_ENST00000431765.1_Missense_Mutation_p.G545V|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 562 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) AGCTACGGCGGGGGCAGCGCC 0.706000 17 18 1.56452e-12 1.86077e-12 1 1 0 MATN4 8785 broad.mit.edu 37 20 43927090 43927090 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr20:43927090C>T ENST00000537548.1 - 8 1390 c.1146G>A c.(1144-1146)acG>acA p.T382T MATN4_ENST00000372751.4_Silent_p.T233T|MATN4_ENST00000372754.1_Silent_p.T423T|MATN4_ENST00000372756.1_Silent_p.T382T|MATN4_ENST00000360607.5_Silent_p.T341T|MATN4_ENST00000342716.4_Silent_p.T382T|MATN4_ENST00000372753.1_Silent_p.T233T|MATN4_ENST00000353917.5_Silent_p.T300T O95460 MATN4_HUMAN matrilin 4 423 extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GCCCCACCCGCGTGCCCTCGG 0.637000 18 78 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7637506 7637506 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:7637506C>T ENST00000572933.1 + 6 2094 c.634C>T c.(634-636)Cgg>Tgg p.R212W DNAH2_ENST00000570791.1_Missense_Mutation_p.R212W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R212W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R212W Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 212 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTTAGACACTCGGTACAAACT 0.532000 2 2 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089773 50089773 + Silent SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:50089773C>A ENST00000376042.1 + 10 4075 c.3777C>A c.(3775-3777)ccC>ccA p.P1259P CCNB3_ENST00000276014.7_Silent_p.P1259P|CCNB3_ENST00000376038.1_Silent_p.P155P|CCNB3_ENST00000348603.2_Silent_p.P155P Q8WWL7 CCNB3_HUMAN cyclin B3 1259 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTAACATTCCCATCGCCTACC 0.428000 15 33 7.93312e-07 8.71343e-07 1 1 0 C9orf89 84270 broad.mit.edu 37 9 95875330 95875330 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:95875330G>A ENST00000375464.2 + 6 621 c.493G>A c.(493-495)Gac>Aac p.D165N C9orf89_ENST00000488630.1_3'UTR NM_032310.3 NP_115686.3 Q96LW7 BINCA_HUMAN chromosome 9 open reading frame 89 0 negative regulation of I-kappaB kinase/NF-kappaB cascade cytosol|nucleus CARD domain binding endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TGTCATCATCGACAGACATGT 0.612000 6 10 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29132283 29132283 + Silent SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:29132283G>A ENST00000409850.1 - 10 1144 c.498C>T c.(496-498)caC>caT p.H166H CPVL_ENST00000396276.3_Silent_p.H166H|CPVL_ENST00000265394.5_Silent_p.H166H Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 166 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 CTGCATATCCGTGGGTATCAT 0.443000 15 42 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129783281 129783281 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:129783281C>T ENST00000226319.6 + 9 1684 c.1404C>T c.(1402-1404)acC>acT p.T468T PHF17_ENST00000512960.1_Silent_p.T468T|PHF17_ENST00000413543.2_Silent_p.T468T|PHF17_ENST00000511647.1_Silent_p.T468T|PHF17_ENST00000452328.2_Silent_p.T456T NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 468 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CCCTGATCACCCCAAAGAAAG 0.537000 23 56 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955499 107955499 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr6:107955499C>T ENST00000317357.5 + 6 2110 c.1451C>T c.(1450-1452)cCg>cTg p.P484L NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 484 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CCGGGCGCCCCGCTGCCGAGT 0.706000 7 2 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108549100 108549100 + Missense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:108549100G>A ENST00000526794.1 + 5 628 c.596G>A c.(595-597)gGt>gAt p.G199D DDX10_ENST00000322536.3_Missense_Mutation_p.G199D Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 199 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGCACACCAGGTCGGCTTCTT 0.353000 T NUP98 AML* 21 85 0 0 1 0 0 ALMS1P 200420 broad.mit.edu 37 2 73901059 73901059 + RNA SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:73901059G>A ENST00000450720.1 + 0 857 NR_003683.2 AGCGGGATGCGCTATTCGACA 0.542000 7 10 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618415 175618415 + Silent SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:175618415G>T ENST00000348749.5 - 6 671 c.594C>A c.(592-594)atC>atA p.I198I AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Silent_p.I198I|CHRNA1_ENST00000261007.5_Silent_p.I223I|CHRNA1_ENST00000409323.1_Silent_p.I198I|CHRNA1_ENST00000409542.1_Silent_p.I116I NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 223 G -> S (in SCCMS). muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GGGACTCCTTGATCACCCACT 0.597000 25 38 9.57634e-11 1.11263e-10 1 1 0 TRIM11 81559 broad.mit.edu 37 1 228582919 228582919 + Silent SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:228582919A>T ENST00000493030.2 - 5 4228 c.519T>A c.(517-519)ccT>ccA p.P173P TRIM11_ENST00000284551.6_Silent_p.P298P|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 298 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GGATCAGCTCAGGGTTGGCGG 0.687000 4 15 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1635300 1635300 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:1635300C>A ENST00000356200.3 - 16 2006 c.1772G>T c.(1771-1773)gGg>gTg p.G591V CDK11A_ENST00000378638.2_Missense_Mutation_p.G591V|CDK11A_ENST00000404249.3_Missense_Mutation_p.G625V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378633.1_Missense_Mutation_p.G628V|CDK11A_ENST00000358779.5_Missense_Mutation_p.G615V|CDK11A_ENST00000357760.2_Missense_Mutation_p.G624V cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 TTCCGAATTCCCGGGGAACAG 0.572000 14 18 1.49906e-05 1.60272e-05 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131853219 131853219 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:131853219C>T ENST00000359827.3 - 22 5092 c.4130G>A c.(4129-4131)aGc>aAc p.S1377N PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1377N Q9HCM2 PLXA4_HUMAN plexin A4 1377 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CATGGAGAAGCTACGCTGGGA 0.597000 13 63 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24437512 24437512 + Missense_Mutation SNP C C T rs112686285 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr6:24437512C>T ENST00000230036.1 - 21 2136 c.2026G>A c.(2026-2028)Gtg>Atg p.V676M NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 676 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 ACCTTAGACACGTCATCTGAA 0.552000 10 66 0 0 1 0 0 FAM126A 84668 broad.mit.edu 37 7 22999967 22999967 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:22999967C>T ENST00000432176.2 - 10 1131 c.899G>A c.(898-900)tGt>tAt p.C300Y FAM126A_ENST00000409923.1_Missense_Mutation_p.C300Y|FAM126A_ENST00000498833.1_5'UTR NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 300 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 AACTTGAATACACCTTGTACC 0.368000 52 125 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110256075 110256075 + Silent SNP A A G rs2479390 by1000genomes TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:110256075A>G ENST00000369813.1 + 2 929 c.24A>G c.(22-24)caA>caG p.Q8Q GSTM5_ENST00000369812.5_Silent_p.Q68Q|GSTM5_ENST00000256593.3_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST N-terminal.|Glutathione binding (By similarity). xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TGGTGGCCCAACTGAGCTTCC 0.572000 7 112 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133980142 133980142 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:133980142C>T ENST00000220616.4 + 31 5830 c.5790C>T c.(5788-5790)gaC>gaT p.D1930D TG_ENST00000377869.1_Silent_p.D1873D|TG_ENST00000542445.1_Silent_p.D300D|TG_ENST00000519543.1_Silent_p.D84D NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1930 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGTGTGATGACATCATGGAGT 0.532000 10 68 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7551135 7551135 + Missense_Mutation SNP C C G rs143303315 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:7551135C>G ENST00000313599.3 - 7 1511 c.1454G>C c.(1453-1455)tGt>tCt p.C485S CD163L1_ENST00000416109.2_Missense_Mutation_p.C495S|CD163L1_ENST00000396630.1_Missense_Mutation_p.C485S Q9NR16 C163B_HUMAN CD163 molecule-like 1 485 SRCR 5. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCTCCCATAACAGGGGCTATG 0.458000 23 130 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46967683 46967683 + Missense_Mutation SNP A A T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr10:46967683A>T ENST00000374323.3 - 3 1140 c.553T>A c.(553-555)Tac>Aac p.Y185N SYT15_ENST00000503753.1_Missense_Mutation_p.Y132N|SYT15_ENST00000374325.3_Missense_Mutation_p.Y132N|SYT15_ENST00000374321.4_Missense_Mutation_p.Y132N Q9BQS2 SYT15_HUMAN synaptotagmin XV 132 C2 1. integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 GGGAACTTGTACAGCTCTGGG 0.622000 16 345 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52469787 52469787 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:52469787C>T ENST00000231721.2 - 16 2180 c.2181G>A c.(2179-2181)gaG>gaA p.E727E NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 727 multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) ACCACACGCGCTCACAGTACT 0.677000 19 83 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1221228 1221228 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:1221228G>T ENST00000326873.7 + 6 1924 c.751G>T c.(751-753)Ggt>Tgt p.G251C NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 251 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.G251R(1)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CATCACCACGGGTCTGTACCC 0.587000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 21 5 6.21321e-17 7.90415e-17 1 1 0 FAM122B 159090 broad.mit.edu 37 X 133922824 133922824 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:133922824G>T ENST00000370790.1 - 5 1242 c.314C>A c.(313-315)tCt>tAt p.S105Y FAM122B_ENST00000486347.1_Missense_Mutation_p.S105Y|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Missense_Mutation_p.S124Y|FAM122B_ENST00000343004.5_Missense_Mutation_p.S124Y NM_001166599.2|NM_145284.5 NP_001160071.1|NP_660327.2 Q7Z309 F122B_HUMAN family with sequence similarity 122B 105 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1) 6 Acute lymphoblastic leukemia(192;0.000127) TCTCTTAGGAGAATATAATTT 0.393000 21 33 4.96729e-08 5.64082e-08 1 1 0 CNTN1 1272 broad.mit.edu 37 12 41419053 41419053 + Silent SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:41419053C>A ENST00000551295.2 + 21 2742 c.2625C>A c.(2623-2625)acC>acA p.T875T CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Silent_p.T864T|CNTN1_ENST00000347616.1_Silent_p.T875T NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 875 Fibronectin type-III 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGCCAGACACCCAGTATTTTA 0.507000 66 385 6.8682e-38 9.79084e-38 1 1 0 ZBTB3 79842 broad.mit.edu 37 11 62519805 62519805 + Missense_Mutation SNP G G C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:62519805G>C ENST00000394807.3 - 2 1607 c.1482C>G c.(1480-1482)caC>caG p.H494Q NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 GCTCACGTGTGTGCACCGTGG 0.572000 15 44 0 0 1 0 0 CLK3 1198 broad.mit.edu 37 15 74919993 74919993 + Silent SNP G G A rs143391795 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr15:74919993G>A ENST00000395066.3 + 9 1931 c.1470G>A c.(1468-1470)ccG>ccA p.P490P CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Silent_p.P342P|CLK3_ENST00000352989.5_Silent_p.P319P NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 490 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 ACTATCGCCCGCCTGAGGTGA 0.547000 35 101 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99286009 99286009 + Splice_Site SNP T T A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:99286009T>A ENST00000375241.1 - 10 1398 c.e10-2 CDC14B_ENST00000265659.2_Splice_Site|CDC14B_ENST00000375240.3_Splice_Site|CDC14B_ENST00000375242.3_Splice_Site|CDC14B_ENST00000375236.1_Splice_Site|CDC14B_ENST00000463569.1_Splice_Site NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) CAAGGCCAGCTAGGAAAATAA 0.478000 7 21 0 0 1 0 0 ZNF581 51545 broad.mit.edu 37 19 56156438 56156438 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:56156438C>G ENST00000587252.1 + 2 774 c.501C>G c.(499-501)caC>caG p.H167Q ZNF581_ENST00000270451.5_Missense_Mutation_p.H167Q|ZNF581_ENST00000588537.1_Missense_Mutation_p.H167Q Q9P0T4 ZN581_HUMAN zinc finger protein 581 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GCCGGGTGCACTCTGGGGAAC 0.667000 31 99 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598558 179598558 + Silent SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:179598558G>T ENST00000589042.1 - 53 15782 c.15558C>A c.(15556-15558)acC>acA p.T5186T TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T4869T|TTN_ENST00000342992.6_Silent_p.T3942T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4869 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTTGCAGGGTAACGGTTT 0.413000 30 109 1.88708e-17 2.43144e-17 1 1 0 PCDH15 65217 broad.mit.edu 37 10 56129019 56129019 + Missense_Mutation SNP T T A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr10:56129019T>A ENST00000373965.2 - 5 729 c.335A>T c.(334-336)cAc>cTc p.H112L PCDH15_ENST00000395438.1_Missense_Mutation_p.H112L|PCDH15_ENST00000437009.1_Missense_Mutation_p.H112L|PCDH15_ENST00000395440.1_Missense_Mutation_p.H112L|PCDH15_ENST00000395442.1_Missense_Mutation_p.H112L|PCDH15_ENST00000395446.1_Missense_Mutation_p.H112L|PCDH15_ENST00000320301.6_Missense_Mutation_p.H112L|PCDH15_ENST00000395432.2_Missense_Mutation_p.H112L|PCDH15_ENST00000414778.1_Missense_Mutation_p.H117L|PCDH15_ENST00000395430.1_Missense_Mutation_p.H112L|PCDH15_ENST00000373957.3_Missense_Mutation_p.H90L|PCDH15_ENST00000395445.1_Missense_Mutation_p.H112L|PCDH15_ENST00000395433.1_Missense_Mutation_p.H90L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.H112L|PCDH15_ENST00000361849.3_Missense_Mutation_p.H112L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 112 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CACAATGGAGTGTATGTTCAT 0.408000 HNSCC(58;0.16) 14 61 0 0 1 0 0 MBD2 8932 broad.mit.edu 37 18 51750540 51750540 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr18:51750540C>T ENST00000256429.3 - 1 618 c.390G>A c.(388-390)ccG>ccA p.P130P MBD2_ENST00000583046.1_Silent_p.P130P|MBD2_ENST00000398398.2_Silent_p.P130P NM_003927.4 NP_003918.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 130 Gly-rich. transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) CGCTCCCCGACGGGAAAGGGA 0.806000 5 3 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 7 129 7.48243e-07 8.26356e-07 1 1 0 GPR155 151556 broad.mit.edu 37 2 175335284 175335284 + Splice_Site SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:175335284C>A ENST00000392552.2 - 4 1099 c.e4-1 GPR155_ENST00000295500.4_Splice_Site|GPR155_ENST00000392551.2_Splice_Site NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 CAGCACCAGACTGAAGAAAAA 0.443000 9 36 1.12685e-05 1.21121e-05 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131878846 131878846 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:131878846C>A ENST00000359827.3 - 14 3793 c.2831G>T c.(2830-2832)cGg>cTg p.R944L PLXNA4_ENST00000321063.4_Missense_Mutation_p.R944L Q9HCM2 PLXA4_HUMAN plexin A4 944 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTGTGAGGACCGGGCCATGAA 0.592000 19 59 8.34094e-07 9.06231e-07 1 1 0 TLR4 7099 broad.mit.edu 37 9 120475523 120475523 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:120475523C>A ENST00000355622.6 + 3 1218 c.1117C>A c.(1117-1119)Cca>Aca p.P373T TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.P333T NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 373 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGTTGATCTACCAAGCCTTGA 0.383000 19 35 3.99206e-14 4.8927e-14 1 1 0 SLC2A3 6515 broad.mit.edu 37 12 8084033 8084033 + Silent SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:8084033G>A ENST00000075120.7 - 4 558 c.318C>T c.(316-318)tgC>tgT p.C106C NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 106 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) GTCCCATAAAGCAGCCACCAG 0.468000 87 59 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243471358 243471358 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:243471358C>A ENST00000366541.3 + 8 926 c.808C>A c.(808-810)Ctt>Att p.L270I SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L227I|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L125I|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.L270I NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 270 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TAAAGAATTTCTTCTGGCTGC 0.368000 45 237 1.03325e-14 1.28199e-14 1 1 0 PLCZ1 89869 broad.mit.edu 37 12 18854696 18854696 + Missense_Mutation SNP T T A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:18854696T>A ENST00000447925.2 - 8 1142 c.873A>T c.(871-873)aaA>aaT p.K291N PLCZ1_ENST00000541695.1_Missense_Mutation_p.K156N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K98N|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K293N|PLCZ1_ENST00000538330.1_Missense_Mutation_p.K34N|PLCZ1_ENST00000539875.1_Missense_Mutation_p.K100N NM_033123.2 NP_149114.2 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 293 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TAACTAATATTTTGAATTTTA 0.318000 4 30 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107968 14107968 + Silent SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:14107968C>T ENST00000235372.7 + 8 4534 c.3678C>T c.(3676-3678)agC>agT p.S1226S PRDM2_ENST00000413440.1_Silent_p.S1025S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.S1226S|PRDM2_ENST00000343137.4_Silent_p.S1025S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1226 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGTTTGAAAGCGGGACTCTGA 0.453000 36 72 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19356206 19356206 + Missense_Mutation SNP G G A rs150818380 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:19356206G>A ENST00000252575.5 + 13 3620 c.3577G>A c.(3577-3579)Ggg>Agg p.G1193R NCAN_ENST00000538881.1_Missense_Mutation_p.G644R NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1193 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCATGAAAGCGGGCGCTGGAA 0.557000 25 61 0 0 1 0 0 SLC35D1 23169 broad.mit.edu 37 1 67519653 67519653 + Missense_Mutation SNP T T A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr1:67519653T>A ENST00000235345.5 - 1 129 c.44A>T c.(43-45)gAa>gTa p.E15V NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 15 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) CGCGGGGGCTTCTCCTTTAAC 0.662000 27 15 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142151651 142151651 + Missense_Mutation SNP T T C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:142151651T>C ENST00000264951.4 - 2 277 c.160A>G c.(160-162)Aga>Gga p.R54G XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.R54G|XRN1_ENST00000463916.1_Missense_Mutation_p.R54G NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 54 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 TCTGAAATTCTAAAGTGAACA 0.343000 17 54 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73438977 73438977 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:73438977C>T ENST00000263666.4 - 7 1520 c.1406G>A c.(1405-1407)cGc>cAc p.R469H PDZRN3_ENST00000479530.1_Missense_Mutation_p.R186H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R126H|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R191H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R126H NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 469 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CTGGATAATGCGGTCTCCTTC 0.473000 13 81 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76535859 76535859 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:76535859C>G ENST00000389840.5 - 18 2760 c.2636G>C c.(2635-2637)cGc>cCc p.R879P DNAH17_ENST00000585328.1_Missense_Mutation_p.R879P dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGAGATTTGCGAATGAACTG 0.363000 5 41 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765957 77765957 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:77765957C>G ENST00000521891.2 + 10 7248 c.6800C>G c.(6799-6801)aCc>aGc p.T2267S ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2241S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2222S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2222S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2222 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) AATCTGCCTACCCGGGTTATT 0.398000 HNSCC(33;0.089) 20 53 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187531903 187531903 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:187531903C>A ENST00000261023.3 + 23 2547 c.2273C>A c.(2272-2274)cCa>cAa p.P758Q ITGAV_ENST00000433736.2_Missense_Mutation_p.P712Q|ITGAV_ENST00000374907.3_Missense_Mutation_p.P722Q|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 758 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AAAGTAAGCCCAGTTGTATCT 0.338000 28 64 5.60225e-13 6.74283e-13 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219869128 219869128 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:219869128C>G ENST00000341552.5 - 33 5184 c.5101G>C c.(5101-5103)Gtg>Ctg p.V1701L CCDC108_ENST00000453220.1_Missense_Mutation_p.V1701L|CCDC108_ENST00000441968.1_Missense_Mutation_p.V1701L|AC097468.4_ENST00000441450.1_RNA NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1701 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTGCTCCACCAGGCTTTGG 0.557000 40 133 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016619 58016619 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:58016619G>T ENST00000379218.2 + 6 1152 c.841G>T c.(841-843)Gct>Tct p.A281S SLC26A10_ENST00000320442.4_Missense_Mutation_p.A281S Q8NG04 S2610_HUMAN solute carrier family 26, member 10 281 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CAGGATTCTGGCTGACTCGCT 0.562000 24 102 9.86323e-18 1.28734e-17 1 1 0 CDH8 1006 broad.mit.edu 37 16 61687617 61687617 + Silent SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr16:61687617G>T ENST00000577390.1 - 12 3249 c.2295C>A c.(2293-2295)acC>acA p.T765T CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 765 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGTCTGATGTGGTGGACTCCA 0.517000 38 45 7.04047e-22 9.56173e-22 1 1 0 CYC1 1537 broad.mit.edu 37 8 145151603 145151603 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr8:145151603C>T ENST00000318911.4 + 5 801 c.728C>T c.(727-729)gCc>gTc p.A243V NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 243 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGCCATTGCCATGGCCCCT 0.577000 39 103 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22316964 22316964 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr22:22316964C>G ENST00000398793.2 - 13 1796 c.1362G>C c.(1360-1362)gaG>gaC p.E454D TOP3B_ENST00000413067.2_Missense_Mutation_p.E183D|TOP3B_ENST00000357179.5_Missense_Mutation_p.E454D NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 454 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGGGCATGACCTCCGTGAAGC 0.662000 24 15 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75875810 75875810 + Missense_Mutation SNP A A G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:75875810A>G ENST00000266659.3 + 2 572 c.371A>G c.(370-372)tAt>tGt p.Y124C NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 124 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 ATCCAGGACTATGACTTCAAG 0.443000 38 157 0 0 1 0 0 ELAC1 55520 broad.mit.edu 37 18 48500918 48500918 + Silent SNP C C T rs62092861 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr18:48500918C>T ENST00000269466.3 + 2 251 c.144C>T c.(142-144)agC>agT p.S48S RP11-729L2.2_ENST00000590722.2_Silent_p.S48S|ELAC1_ENST00000591429.1_Silent_p.S48S|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|ELAC1_ENST00000588577.1_Silent_p.S48S NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 48 tRNA 3'-trailer cleavage nucleus endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) TTATGAAAAGCCAACTTAAAG 0.468000 9 58 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45886269 45886269 + Nonsense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:45886269G>T ENST00000007414.3 - 21 2449 c.2258C>A c.(2257-2259)tCg>tAg p.S753* OSBPL7_ENST00000392507.3_Nonsense_Mutation_p.S753* NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 753 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GGAAGGCAGCGACCGTTTCAG 0.592000 107 75 5.28548e-51 7.64303e-51 1 1 0 FAM166A 401565 broad.mit.edu 37 9 140139180 140139180 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr9:140139180C>T ENST00000344774.4 - 5 715 c.661G>A c.(661-663)Ggc>Agc p.G221S NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 221 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 GGAATGAAGCCAGCATAGCCT 0.597000 7 7 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3235842 3235842 + Silent SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:3235842G>T ENST00000217939.6 - 6 6034 c.5880C>A c.(5878-5880)gtC>gtA p.V1960V NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1960 Ig-like C2-type 4. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGTAGACAGTGACGTCCTGGT 0.582000 18 50 2.35188e-11 2.74842e-11 1 1 0 COL20A1 57642 broad.mit.edu 37 20 61950473 61950473 + Silent SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr20:61950473C>A ENST00000422202.1 + 21 2816 c.2748C>A c.(2746-2748)ccC>ccA p.P916P COL20A1_ENST00000435874.1_Silent_p.P916P|COL20A1_ENST00000326996.6_Silent_p.P909P|COL20A1_ENST00000358894.6_Silent_p.P909P Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 909 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity p.P909P(1) NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCCTACTTCCCGAGACACCCC 0.652000 12 51 1.5842e-08 1.80923e-08 1 1 0 MAGEB1 4112 broad.mit.edu 37 X 30269467 30269467 + Missense_Mutation SNP T T C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:30269467T>C ENST00000378981.3 + 4 1178 c.857T>C c.(856-858)cTc>cCc p.L286P MAGEB1_ENST00000397548.2_Missense_Mutation_p.L286P|MAGEB1_ENST00000397550.1_Missense_Mutation_p.L286P NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 286 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 ATGAAAGTCCTCGAGTTTTTG 0.507000 39 46 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57577918 57577918 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr12:57577918C>T ENST00000243077.3 + 37 6446 c.5980C>T c.(5980-5982)Ctc>Ttc p.L1994F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1994 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGTCGCCCGGCTCAATGGCTC 0.602000 8 59 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62636610 62636610 + Missense_Mutation SNP C C T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:62636610C>T ENST00000383710.4 - 5 1464 c.1115G>A c.(1114-1116)cGc>cAc p.R372H CADPS_ENST00000490353.2_Missense_Mutation_p.R372H|CADPS_ENST00000357948.3_Missense_Mutation_p.R372H|CADPS_ENST00000283269.9_Missense_Mutation_p.R372H NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 372 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) ATTGTGGCTGCGTTTGAGTTT 0.512000 28 105 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22095703 22095703 + Silent SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chrX:22095703G>A ENST00000379374.4 + 5 1111 c.546G>A c.(544-546)gaG>gaA p.E182E PHEX_ENST00000537599.1_Silent_p.E182E|PHEX_ENST00000535894.1_Silent_p.E85E NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 182 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TTTGGTCAGAGAGAAAGTTCA 0.483000 143 36 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125281904 125281904 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr2:125281904G>T ENST00000431078.1 + 9 1713 c.1349G>T c.(1348-1350)tGg>tTg p.W450L NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 450 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GATGGCCTGTGGCACTCGGTT 0.532000 23 49 1.50039e-11 1.76362e-11 1 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642785 1642785 + Missense_Mutation SNP C C A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:1642785C>A ENST00000399682.1 - 1 583 c.539G>T c.(538-540)tGc>tTc p.C180F NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 240 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTAGGGCTTGCAGCAGCTGGA 0.607000 65 191 1.7104e-27 2.35473e-27 1 1 0 EML5 161436 broad.mit.edu 37 14 89163292 89163292 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr14:89163292C>G ENST00000554922.1 - 15 2491 c.2243G>C c.(2242-2244)gGt>gCt p.G748A EML5_ENST00000380664.5_Missense_Mutation_p.G748A|EML5_ENST00000352093.5_Missense_Mutation_p.G748A NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 748 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGGATCTCTACCAACCTAAAA 0.318000 20 30 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910141 35910141 + Nonsense_Mutation SNP G G A TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr5:35910141G>A ENST00000397367.2 - 4 478 c.352C>T c.(352-354)Caa>Taa p.Q118* CAPSL_ENST00000397366.1_Nonsense_Mutation_p.Q118*|CAPSL_ENST00000514524.1_Nonsense_Mutation_p.Q118* NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 118 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CTAAAAGCTTGCATGATTACC 0.373000 49 52 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33461006 33461006 + Splice_Site SNP G G C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr5:33461006G>C ENST00000265112.3 + 12 1561 c.e12-1 TARS_ENST00000502553.1_Splice_Site|TARS_ENST00000414361.2_Splice_Site|TARS_ENST00000541634.1_Splice_Site|TARS_ENST00000455217.2_Splice_Site NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TTTCTCTTCAGCCTTATGTTT 0.433000 15 37 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150733016 150733016 + Silent SNP G G C TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:150733016G>C ENST00000358849.4 + 7 1068 c.975G>C c.(973-975)cgG>cgC p.R325R ABCB8_ENST00000498578.1_Silent_p.R325R|ABCB8_ENST00000477719.1_Silent_p.R325R|ABCB8_ENST00000477092.1_Silent_p.R325R|ABCB8_ENST00000356058.4_Silent_p.R362R|ABCB8_ENST00000297504.6_Silent_p.R342R|ABCB8_ENST00000542328.1_Silent_p.R237R NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 342 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCAATGTGCGGACTGTGCGTG 0.607000 21 45 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47393548 47393548 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr22:47393548C>G ENST00000337137.4 + 10 1310 c.1144C>G c.(1144-1146)Caa>Gaa p.Q382E TBC1D22A_ENST00000406733.1_Missense_Mutation_p.Q335E|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.Q323E|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.Q304E NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 382 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) CACCTTTGCCCAACCTGGGAT 0.438000 14 41 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44378155 44378155 + Missense_Mutation SNP C C G TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:44378155C>G ENST00000587539.1 - 3 210 c.211G>C c.(211-213)Gag>Cag p.E71Q ZNF404_ENST00000324394.6_Missense_Mutation_p.E69Q NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TTCCATGTCTCCTGATGGTAC 0.328000 21 82 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 2 4 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3344676 3344676 + Frame_Shift_Del DEL G G - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr4:3344676delG ENST00000336727.3 + 3 2798 c.1894delG c.(1894-1896)ggfs p.G632fs RGS12_ENST00000382788.3_Frame_Shift_Del_p.G632fs|RGS12_ENST00000306648.7_Frame_Shift_Del_p.G30fs|RGS12_ENST00000543385.1_Frame_Shift_Del_p.G632fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.G632fs NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 632 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTCAAAATTTGGGCGGGGAAC 0.453 67 60 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96635420 96635421 + In_Frame_Ins INS - - GCC TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:96635420_96635421insGCC ENST00000518156.2 + 1 561_562 c.131_132insGCC c.(130-132)ccc>cGCCcc p.43_44insR DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA P56179 DLX6_HUMAN distal-less homeobox 6 0 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) caacagcaacagccgccgccgc 0.698 2 4 --- --- --- --- LOC101928451 101928451 broad.mit.edu 37 7 128210234 128210235 + RNA INS - - TT rs57917869 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr7:128210234_128210235insTT ENST00000605862.1 + 0 189 agttttagttcttTTTTTTTTT 0.441 4 5 --- --- --- --- ART5 116969 broad.mit.edu 37 11 3660979 3660980 + Frame_Shift_Ins INS - - G rs74708481 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:3660979_3660980insG ENST00000397068.3 - 2 1071_1072 c.679_680insC c.(679-681)tgafs p.*227fs ART5_ENST00000359918.4_Frame_Shift_Ins_p.*227fs|ART5_ENST00000397067.3_Intron NM_053017.3 NP_443750.2 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 227 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1) 11 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAGACTTCATGGGGGGGAATC 0.500 41 125 --- --- --- --- OR51L1 119682 broad.mit.edu 37 11 5020813 5020813 + Frame_Shift_Del DEL G G - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:5020813delG ENST00000321543.1 + 1 601 c.601delG c.(601-603)ggfs p.G201fs NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGTATTTATGGGCTTTGTGT 0.428 16 83 --- --- --- --- MMP13 4322 broad.mit.edu 37 11 102818723 102818723 + Frame_Shift_Del DEL T T - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:102818723delT ENST00000260302.3 - 8 1136 c.1108delA c.(1108-1110)tafs p.I370fs MMP13_ENST00000340273.4_Frame_Shift_Del_p.I370fs NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 370 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AGTTCAGATATTTTTTTGGGA 0.388 14 56 --- --- --- --- USP2 9099 broad.mit.edu 37 11 119227556 119227556 + Frame_Shift_Del DEL A A - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr11:119227556delA ENST00000260187.2 - 13 2101 c.1807delT c.(1807-1809)ccfs p.S603fs USP2_ENST00000525735.1_Frame_Shift_Del_p.S394fs|USP2_ENST00000455332.2_Frame_Shift_Del_p.S360fs NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 603 PSRM -> TSPI (in Ref. 1; AAC28392). cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TACATTCGGGAGGGCGGGCTG 0.582 OREG0021404 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- MIR381HG 378881 broad.mit.edu 37 14 101514904 101514907 + RNA DEL GTGT GTGT - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr14:101514904_101514907delGTGT ENST00000553692.1 + 0 28 CACCTCTGGGgtgtgtgtgtgtgt 0.471 2 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25326493 25326494 + RNA DEL CT CT - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr15:25326493_25326494delCT ENST00000546682.1 + 0 71 SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TGAGTGAAAACTCTATACCGTC 0.465 7 223 --- --- --- --- ORC6 23594 broad.mit.edu 37 16 46729524 46729525 + Frame_Shift_Ins INS - - A rs35441257 TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr16:46729524_46729525insA ENST00000566860.1 + 4 640_641 c.353_354insA c.(352-354)gaafs p.E118fs ORC6_ENST00000575571.1_3'UTR|ORC6_ENST00000568364.2_Intron|ORC6_ENST00000219097.2_Frame_Shift_Ins_p.E167fs Q9Y5N6 ORC6_HUMAN origin recognition complex, subunit 6 167 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 8 ACATCCGGTGTAAAAAAAGCTA 0.351 14 55 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 3 5 --- --- --- --- WBP11P1 441818 broad.mit.edu 37 18 30091811 30091812 + RNA INS - - AA TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr18:30091811_30091812insAA ENST00000567636.1 + 0 186_187 NR_003558.1 GTAAACCATACAAATTGTCAAC 0.431 16 86 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10597393 10597393 + Frame_Shift_Del DEL C C - TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6FD06171-694B-41C5-8D92-739A884132B2 77083AC4-FD20-4286-8DE0-D578F6B83CE3 g.chr19:10597393delC ENST00000171111.5 - 6 2357 c.1810delG c.(1810-1812)tgfs p.V604fs KEAP1_ENST00000393623.2_Frame_Shift_Del_p.V604fs NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 604 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCCACGCCCACCCCACTCCGG 0.552 113 55 --- --- --- ---