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 UBR4 23352 broad.mit.edu 37 1 19404540 19404540 + Missense_Mutation SNP T T C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:19404540T>C ENST00000375267.2 - 104 15257 c.15254A>G c.(15253-15255)aAg>aGg p.K5085R UBR4_ENST00000375225.3_Missense_Mutation_p.K160R|UBR4_ENST00000543981.1_Missense_Mutation_p.K749R|UBR4_ENST00000375254.3_Missense_Mutation_p.K5085R|UBR4_ENST00000375224.1_Missense_Mutation_p.K792R|UBR4_ENST00000429347.2_Missense_Mutation_p.K608R|UBR4_ENST00000375226.2_Missense_Mutation_p.K5061R|UBR4_ENST00000375217.2_Missense_Mutation_p.K5078R Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5085 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGAATAGTCCTTCACTGCCTT 0.493000 13 31 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74715151 74715151 + Missense_Mutation SNP A A C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:74715151A>C ENST00000370895.1 + 5 496 c.461A>C c.(460-462)gAa>gCa p.E154A TNNI3K_ENST00000326637.3_Missense_Mutation_p.E53A|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E154A|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E154A|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E154A Q59H18 TNI3K_HUMAN 53 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding AGCTCTGATGAAGCCTTCAGT 0.323000 11 32 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127767648 127767648 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:127767648C>G ENST00000483725.3 - 5 2152 c.1816G>C c.(1816-1818)Gaa>Caa p.E606Q SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 606 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TGGAGCATTTCTAAATGCTGA 0.428000 31 176 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242163542 242163542 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:242163542C>T ENST00000274979.8 + 25 2879 c.2776C>T c.(2776-2778)Ccc>Tcc p.P926S NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 926 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 CTTCACGGTTCCCAAGGCCAG 0.647000 11 79 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389482 20389482 + Silent SNP G G T rs137857056 TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr14:20389482G>T ENST00000315915.4 + 1 742 c.717G>T c.(715-717)acG>acT p.T239T NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTTTCTACGCTGGCTTCCC 0.413000 25 154 6.32553e-13 6.78097e-13 1 1 0 BRDT 676 broad.mit.edu 37 1 92447253 92447253 + Nonsense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:92447253C>G ENST00000370389.2 + 12 2648 c.1724C>G c.(1723-1725)tCa>tGa p.S575* BRDT_ENST00000402388.1_Nonsense_Mutation_p.S648*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.S648*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.S648*|BRDT_ENST00000394530.3_Nonsense_Mutation_p.S602* NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) agcagcTCATCAGAGTCTGAA 0.453000 23 46 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11995295 11995295 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:11995295G>A ENST00000333796.3 - 1 1291 c.975C>T c.(973-975)caC>caT p.H325H FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 325 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TCCACCCAGCGTGGACCAGCA 0.488000 6 101 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50330967 50330967 + Missense_Mutation SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr15:50330967G>T ENST00000284509.6 - 6 501 c.360C>A c.(358-360)agC>agA p.S120R ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.S120R NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 120 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTTCTTACTTGCTGTTGATGA 0.368000 9 49 1.76689e-08 1.87908e-08 1 1 0 CCDC36 339834 broad.mit.edu 37 3 49293706 49293706 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:49293706G>A ENST00000438782.1 + 8 1012 c.776G>A c.(775-777)aGa>aAa p.R259K CCDC36_ENST00000296449.5_Missense_Mutation_p.R259K|CCDC36_ENST00000452691.2_Missense_Mutation_p.R259K Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 259 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) GAGCTGAAGAGATTGATCTCA 0.522000 11 79 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1584402 1584402 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chrX:1584402G>A ENST00000381297.4 - 2 1260 c.1050C>T c.(1048-1050)ccC>ccT p.P350P NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 350 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTGGAGGCCGGGCCTGGTGG 0.716000 T CRLF2 """B-ALL, Downs associated ALL""" 16 93 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237425 56237425 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:56237425G>A ENST00000312240.2 - 1 589 c.549C>T c.(547-549)atC>atT p.I183I NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AGGCCATTTTGATGAGAGGTG 0.403000 10 176 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194171001 194171001 + Silent SNP T T G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:194171001T>G ENST00000439040.1 - 11 1634 c.843A>C c.(841-843)atA>atC p.I281I ATP13A3_ENST00000256031.4_Silent_p.I281I Q9H7F0 AT133_HUMAN ATPase type 13A3 281 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) AGATTTCTTCTATTTCTGAAA 0.338000 5 28 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158695177 158695177 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr7:158695177A>G ENST00000407559.3 + 10 1406 c.1248A>G c.(1246-1248)atA>atG p.I416M NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 416 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAAAGGAAATACAAGAAATTC 0.363000 18 55 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49716303 49716303 + Missense_Mutation SNP A A T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:49716303A>T ENST00000296456.5 + 12 1479 c.1079A>T c.(1078-1080)tAc>tTc p.Y360F APEH_ENST00000438011.1_Missense_Mutation_p.Y360F NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 360 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTGGGATCTACTGCAGCCTT 0.567000 20 102 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39025462 39025462 + Silent SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:39025462C>T ENST00000295373.6 - 24 4266 c.4140G>A c.(4138-4140)gtG>gtA p.V1380V NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1380 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TGACAAGTTTCACAATTGTGC 0.448000 10 111 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88472443 88472443 + Silent SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr15:88472443G>C ENST00000394480.1 - 17 2433 c.2112C>G c.(2110-2112)gtC>gtG p.V704V NTRK3_ENST00000357724.2_Silent_p.V696V|NTRK3_ENST00000557856.1_Silent_p.V696V|NTRK3_ENST00000355254.2_Silent_p.V704V|NTRK3_ENST00000558676.1_Silent_p.V696V|NTRK3_ENST00000542733.2_Silent_p.V606V|NTRK3_ENST00000360948.2_Silent_p.V704V NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 704 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CCGTGCTGTAGACATCTCTGG 0.517000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 21 101 0 0 1 0 0 NDUFS8 4728 broad.mit.edu 37 11 67800624 67800624 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:67800624C>G ENST00000313468.5 + 5 353 c.246C>G c.(244-246)atC>atG p.I82M NDUFS8_ENST00000528492.1_Intron NM_002496.3 NP_002487.1 O00217 NDUS8_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) 82 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|lung(5)|skin(1) 8 NADH(DB00157) CGGCCACCATCAACTACCCGT 0.682000 4 33 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22117215 22117215 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chrX:22117215G>A ENST00000379374.4 + 9 1590 c.1025G>A c.(1024-1026)cGc>cAc p.R342H PHEX_ENST00000418858.3_Missense_Mutation_p.R45H|PHEX_ENST00000537599.1_Missense_Mutation_p.R342H|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.R245H NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 342 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding p.R342H(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 GTGGTGGTCCGCGTCCCGCAG 0.448000 8 125 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178906 153178906 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chrX:153178906C>T ENST00000370028.3 - 10 1460 c.1403G>A c.(1402-1404)cGg>cAg p.R468Q ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R405Q|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R407Q|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R428Q|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R250Q NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 428 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCGCGCCTCCGGCCCGCCTG 0.692000 6 99 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111419371 111419371 + Silent SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:111419371C>G ENST00000535254.1 - 9 1012 c.945G>C c.(943-945)ctG>ctC p.L315L BUB1_ENST00000302759.6_Silent_p.L335L|BUB1_ENST00000409311.1_Silent_p.L335L NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 335 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATGGCGCTCTCAGTTCCTGCT 0.453000 14 116 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150807017 150807017 + Missense_Mutation SNP A A T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:150807017A>T ENST00000358595.5 - 8 1000 c.800T>A c.(799-801)aTg>aAg p.M267K ARNT_ENST00000515192.1_Missense_Mutation_p.M258K|ARNT_ENST00000505755.1_Missense_Mutation_p.M252K|ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.M267K NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 267 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CACTCACCTCATTCGGCAAAT 0.438000 T ETV6 AML 7 102 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105174314 105174314 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr14:105174314G>A ENST00000392634.4 + 8 1822 c.1710G>A c.(1708-1710)caG>caA p.Q570Q INF2_ENST00000330634.7_Silent_p.Q570Q NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 570 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TGAACTGGCAGAAGCTGCCAT 0.652000 10 55 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50781460 50781460 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr19:50781460G>C ENST00000440075.2 + 30 3993 c.3946G>C c.(3946-3948)Gag>Cag p.E1316Q MYH14_ENST00000598205.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000596571.1_Missense_Mutation_p.E1275Q|MYH14_ENST00000425460.1_Missense_Mutation_p.E1283Q|MYH14_ENST00000376970.2_Missense_Mutation_p.E1308Q|MYH14_ENST00000601313.1_Missense_Mutation_p.E1316Q|MYH14_ENST00000262269.8_Missense_Mutation_p.E1316Q Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 1275 axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GCGCCGCCTGGAGTTACAGCT 0.697000 6 17 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54755938 54755938 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr19:54755938G>A ENST00000450632.1 - 12 1658 c.1581C>T c.(1579-1581)gaC>gaT p.D527D LILRB5_ENST00000449561.2_Silent_p.D536D|LILRB5_ENST00000316219.5_Silent_p.D535D|LILRB5_ENST00000345866.6_Silent_p.D436D O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 535 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTCCACCCCGTCCTTGGGCT 0.622000 55 127 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31022345 31022345 + Silent SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr20:31022345C>T ENST00000375687.4 + 13 2254 c.1830C>T c.(1828-1830)ggC>ggT p.G610G ASXL1_ENST00000306058.5_Silent_p.G605G NM_015338.5 NP_056153.2 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 610 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.Q592fs*5(1)|p.G610G(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 GTTGGACTGGCGCCAGGACCC 0.632000 """F, N, Mis""" """MDS, CMML""" 4 48 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28702043 28702043 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr12:28702043C>G ENST00000545336.1 + 16 1682 c.1263C>G c.(1261-1263)ttC>ttG p.F421L CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Missense_Mutation_p.F385L|CCDC91_ENST00000306172.5_Missense_Mutation_p.F391L|CCDC91_ENST00000381259.1_Missense_Mutation_p.F421L|CCDC91_ENST00000381256.1_Missense_Mutation_p.F385L Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 421 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TGGAACTGTTCCTCTCCTGTG 0.378000 18 139 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119161817 119161817 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr4:119161817G>A ENST00000296499.5 + 11 2660 c.2257G>A c.(2257-2259)Gag>Aag p.E753K NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 753 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CAGCCACATCGAGAGATGGCT 0.473000 6 51 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36315806 36315806 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:36315806A>G ENST00000373210.3 + 16 2469 c.2224A>G c.(2224-2226)Atc>Gtc p.I742V AGO4_ENST00000488778.1_3'UTR NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 GGATAGTACCATCACACATCC 0.398000 11 106 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120650707 120650707 + Missense_Mutation SNP G G C rs138726849 TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:120650707G>C ENST00000427067.2 - 2 262 c.82C>G c.(82-84)Cga>Gga p.R28G ENPP2_ENST00000075322.6_Missense_Mutation_p.R32G|ENPP2_ENST00000259486.6_Missense_Mutation_p.R32G|ENPP2_ENST00000522826.1_Missense_Mutation_p.R32G Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 32 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTCTTAATTCGATGTGCAGTG 0.373000 22 125 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179546391 179546391 + Missense_Mutation SNP T T C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:179546391T>C ENST00000589042.1 - 136 33393 c.33169A>G c.(33169-33171)Aaa>Gaa p.K11057E TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K9813E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K10740E|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10740 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCTACCTTTAGCCGGTGGG 0.388000 6 50 0 0 1 0 0 C5orf55 116349 broad.mit.edu 37 5 442703 442703 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr5:442703G>C ENST00000408966.2 - 1 555 c.235C>G c.(235-237)Cgt>Ggt p.R79G NM_138464.2 NP_612473.1 Q8N2X6 CE055_HUMAN chromosome 5 open reading frame 55 79 extracellular region large_intestine(1)|lung(2) 3 TTGTTCCCACGAGGGTGCCAA 0.612000 56 176 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129691085 129691085 + Missense_Mutation SNP G G C rs138303386 byFrequency TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:129691085G>C ENST00000421865.2 + 34 4958 c.4909G>C c.(4909-4911)Gag>Cag p.E1637Q NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1637 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.E1637K(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCAGCTGGCAGAGGGCAATCT 0.448000 11 73 0 0 1 0 0 SERPINB1 1992 broad.mit.edu 37 6 2833940 2833940 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:2833940G>A ENST00000380739.5 - 7 1244 c.1042C>T c.(1042-1044)Ccc>Tcc p.P348S SERPINB1_ENST00000537185.1_Missense_Mutation_p.P197S P30740 ILEU_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 1 348 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2) 13 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) TTTTCTTCGGGCATCAACATG 0.443000 8 46 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55229200 55229200 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr7:55229200G>A ENST00000275493.2 + 13 1684 c.1507G>A c.(1507-1509)Ggc>Agc p.G503S EGFR_ENST00000342916.3_Missense_Mutation_p.G503S|EGFR_ENST00000455089.1_Missense_Mutation_p.G458S|EGFR_ENST00000442591.1_Missense_Mutation_p.G503S|EGFR_ENST00000344576.2_Missense_Mutation_p.G503S|EGFR_ENST00000454757.2_Missense_Mutation_p.G450S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 503 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGAGGCCACAGGCCAGGTCTG 0.692000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 17 90 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201507423 201507423 + Missense_Mutation SNP T T C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:201507423T>C ENST00000374700.2 + 25 2987 c.2746T>C c.(2746-2748)Tcc>Ccc p.S916P AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 916 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CAACCTTCCATCCAACACAGC 0.493000 11 73 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35836031 35836031 + Missense_Mutation SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:35836031G>T ENST00000314607.6 + 7 1064 c.984G>T c.(982-984)atG>atT p.M328I ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Missense_Mutation_p.M328I NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 328 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAATAAAATGCTTCCTTCAG 0.393000 7 74 8.12818e-05 8.31433e-05 1 1 0 KRT85 3891 broad.mit.edu 37 12 52760958 52760958 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr12:52760958G>A ENST00000257901.3 - 1 307 c.232C>T c.(232-234)Cgc>Tgc p.R78C NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 78 Head. R -> H (in EDPHN; dbSNP:rs61630004). epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCGAAGCTGCGTCCGCAGGAG 0.697000 8 89 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr15:78212571G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGTGTCACGTGTGCGTTCA 0.572000 6 44 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175355319 175355319 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:175355319G>A ENST00000367674.1 - 8 2334 c.1626C>T c.(1624-1626)ggC>ggT p.G542G TNR_ENST00000263525.2_Silent_p.G542G NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 542 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACCTTCCCCGCCCACCAGGC 0.587000 28 45 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89888658 89888658 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:89888658A>G ENST00000435811.1 - 9 1674 c.1220T>C c.(1219-1221)aTg>aCg p.M407T GABRR1_ENST00000454853.2_Missense_Mutation_p.M424T|GABRR1_ENST00000369451.3_Missense_Mutation_p.M337T NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 424 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) CAGCTGCACCATCATCCTGTC 0.557000 18 113 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455600 179455600 + Silent SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:179455600A>G ENST00000589042.1 - 304 61076 c.60852T>C c.(60850-60852)acT>acC p.T20284T TTN_ENST00000359218.5_Silent_p.T11344T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.T11411T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.T17716T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T11219T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T18643T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18643 Ig-like 111. 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) CTGCATTTTCAGTAATGTCAG 0.468000 18 95 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179483378 179483378 + Silent SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:179483378C>G ENST00000589042.1 - 251 47123 c.46899G>C c.(46897-46899)ggG>ggC p.G15633G TTN_ENST00000359218.5_Silent_p.G6693G|TTN_ENST00000342175.6_Silent_p.G6760G|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.G13065G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G6568G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.G13992G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13992 Ig-like 98. 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) TTTTATACCTCCCTTTGTCTC 0.348000 6 59 0 0 1 0 0 XPNPEP3 63929 broad.mit.edu 37 22 41318410 41318410 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr22:41318410C>T ENST00000357137.4 + 8 1213 c.1129C>T c.(1129-1131)Cct>Tct p.P377S XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P354S NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative 377 cellular process mitochondrion aminopeptidase activity|manganese ion binding|metallopeptidase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 CCTCTGCTTCCCTGGGACAAG 0.478000 30 260 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30472202 30472202 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:30472202G>A ENST00000355904.4 - 4 571 c.289C>T c.(289-291)Cta>Tta p.L97L NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 97 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) TCTAAGGTTAGAGGATGCGTA 0.343000 8 41 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42041778 42041778 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr15:42041778G>A ENST00000219905.7 + 17 6154 c.5973G>A c.(5971-5973)aaG>aaA p.K1991K MGA_ENST00000570161.1_Silent_p.K1991K|MGA_ENST00000389936.4_Silent_p.K1952K|MGA_ENST00000566586.1_Silent_p.K1782K|MGA_ENST00000545763.1_Silent_p.K1782K NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1952 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAGAAACGAAGAAGGTTCTAC 0.413000 10 79 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676068 100676068 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr7:100676068G>C ENST00000306151.4 + 3 1435 c.1371G>C c.(1369-1371)atG>atC p.M457I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 457 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAACAAGTATGCCTGTCAGCA 0.493000 115 518 0 0 1 0 0 TYSND1 219743 broad.mit.edu 37 10 71903626 71903626 + Silent SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr10:71903626G>T ENST00000287078.6 - 2 1268 c.1269C>A c.(1267-1269)atC>atA p.I423I TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 423 Serine protease. proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CGGGCACAGGGATGGGGACAT 0.592000 7 36 2.7689e-08 2.92151e-08 1 1 0 CCDC146 57639 broad.mit.edu 37 7 76871152 76871152 + Silent SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr7:76871152C>G ENST00000285871.4 + 4 511 c.384C>G c.(382-384)ctC>ctG p.L128L CCDC146_ENST00000431197.1_5'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 128 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AACAACTTCTCAAGTATCAAA 0.403000 22 63 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49292911 49292911 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:49292911G>A ENST00000438782.1 + 7 857 c.621G>A c.(619-621)aaG>aaA p.K207K CCDC36_ENST00000296449.5_Silent_p.K207K|CCDC36_ENST00000452691.2_Silent_p.K207K Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 207 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TTGAGATGAAGAAAAGATTTG 0.393000 15 61 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62321751 62321751 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr20:62321751G>C ENST00000318100.4 + 26 3197 c.2370G>C c.(2368-2370)aaG>aaC p.K790N RTEL1_ENST00000370003.1_Missense_Mutation_p.K35N|RTEL1_ENST00000508582.2_Missense_Mutation_p.K814N|RTEL1_ENST00000370018.3_Missense_Mutation_p.K790N|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.K790N|RTEL1_ENST00000360203.5_Missense_Mutation_p.K790N Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 790 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GGAAAGCTAAGAGTCTGGACC 0.692000 5 38 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003750 75003750 + Silent SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chrX:75003750G>T ENST00000373359.2 - 1 1329 c.1137C>A c.(1135-1137)ctC>ctA p.L379L NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 379 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCTGGACAAGGAGGTAGATGT 0.443000 29 116 5.60225e-13 6.05404e-13 1 1 0 LARGE 9215 broad.mit.edu 37 22 33673130 33673130 + Silent SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr22:33673130C>G ENST00000354992.2 - 15 2560 c.1989G>C c.(1987-1989)gtG>gtC p.V663V LARGE_ENST00000402320.1_Silent_p.V611V|LARGE_ENST00000452586.2_Silent_p.V462V|LARGE_ENST00000437602.2_Silent_p.V614V|LARGE_ENST00000337431.2_Silent_p.V611V|LARGE_ENST00000397394.2_Silent_p.V663V NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 663 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) AGTCACGTCTCACAACAACAT 0.577000 23 82 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590665 156590665 + Missense_Mutation SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr5:156590665G>T ENST00000302938.4 - 2 706 c.611C>A c.(610-612)gCa>gAa p.A204E NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 204 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGAGCTCTGCAGCCTATAC 0.493000 11 72 0.00829132 0.00841694 1 1 0 APOL3 80833 broad.mit.edu 37 22 36556749 36556749 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr22:36556749G>A ENST00000349314.2 - 1 228 c.191C>T c.(190-192)tCt>tTt p.S64F APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397293.2_5'UTR NM_145640.2 NP_663615.1 O95236 APOL3_HUMAN apolipoprotein L, 3 64 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 GTGTGAGCAAGATCCAGCTGT 0.512000 8 105 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16352699 16352699 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:16352699C>G ENST00000375692.1 + 6 583 c.455C>G c.(454-456)tCc>tGc p.S152C CLCNKA_ENST00000420078.1_Missense_Mutation_p.S152C|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S109C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S152C P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 152 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GTGGGCCTCTCCTGCACCCTG 0.617000 12 215 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128563725 128563725 + Nonsense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:128563725G>C ENST00000368227.3 - 4 884 c.518C>G c.(517-519)tCa>tGa p.S173* PTPRK_ENST00000532331.1_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.S173*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.S173* Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 173 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCTCCCTCCTGAGACTTCAGC 0.343000 7 26 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206652357 206652357 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:206652357A>G ENST00000367120.3 + 10 1437 c.1064A>G c.(1063-1065)gAg>gGg p.E355G IKBKE_ENST00000537984.1_Missense_Mutation_p.E270G|IKBKE_ENST00000462698.1_3'UTR NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 355 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) TACCTCTTTGAGGGTCACCTC 0.622000 63 140 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168560 36168560 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:36168560A>G ENST00000357641.6 + 2 714 c.461A>G c.(460-462)tAt>tGt p.Y154C BRPF3_ENST00000534694.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000443324.2_Missense_Mutation_p.Y154C|BRPF3_ENST00000543502.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000534400.1_Missense_Mutation_p.Y154C|BRPF3_ENST00000339717.7_Missense_Mutation_p.Y154C NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 154 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GAGGTAGAGTATGACATGGAT 0.547000 14 58 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32002333 32002333 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr22:32002333A>G ENST00000432498.1 + 20 2374 c.1981A>G c.(1981-1983)Aaa>Gaa p.K661E SFI1_ENST00000443326.1_Missense_Mutation_p.K610E|SFI1_ENST00000400288.2_Missense_Mutation_p.K692E|SFI1_ENST00000400289.1_Missense_Mutation_p.K610E|SFI1_ENST00000443011.1_Missense_Mutation_p.K539E|SFI1_ENST00000540643.1_Missense_Mutation_p.K637E|SFI1_ENST00000414585.1_Missense_Mutation_p.K539E NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 692 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 ACGTCGCTGGAAAGAGAACAC 0.498000 4 66 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000940 11000940 + Missense_Mutation SNP G G A rs144646271 byFrequency TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr16:11000940G>A ENST00000324288.8 + 11 1724 c.1591G>A c.(1591-1593)Ggc>Agc p.G531S CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 531 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GCTGCTGGCCGGCCTTTTCCA 0.692000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 5 59 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49405953 49405953 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:49405953C>T ENST00000418115.1 - 3 569 c.185G>A c.(184-186)gGg>gAg p.G62E RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.G62E NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 62 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ATCTTCCTGCCCAGCTGTGTC 0.473000 16 76 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298658 107298658 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr9:107298658C>T ENST00000374781.2 - 1 479 c.437G>A c.(436-438)gGc>gAc p.G146D NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TGCCATCATGCCAAGAAGCAG 0.463000 32 203 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022592 76022592 + Missense_Mutation SNP A A C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:76022592A>C ENST00000393004.2 - 5 3177 c.2956T>G c.(2956-2958)Ttt>Gtt p.F986V FILIP1_ENST00000370020.1_Missense_Mutation_p.F887V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.F986V Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 986 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCTCTGGAAAATGTAGTAATT 0.463000 22 94 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74063379 74063379 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:74063379C>T ENST00000307877.2 - 3 445 c.284G>A c.(283-285)cGa>cAa p.R95Q SRP68_ENST00000539137.1_Intron|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 95 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 GAGTGTTTTTCGAAGACGTCT 0.408000 11 88 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210962878 210962878 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:210962878G>A ENST00000281772.9 - 5 1745 c.1482C>T c.(1480-1482)tcC>tcT p.S494S KANSL1L_ENST00000457374.1_Silent_p.S494S|KANSL1L_ENST00000452086.1_Silent_p.S494S|KANSL1L_ENST00000418791.1_Silent_p.S494S NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 494 ATGAAGTTGGGGACAAGTTGA 0.423000 14 59 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674711 71674711 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr16:71674711G>C ENST00000299952.4 + 3 1057 c.1014G>C c.(1012-1014)gaG>gaC p.E338D MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR NM_001017967.2 NP_001017967.2 Q96A59 MALD3_HUMAN MARVEL domain containing 3 341 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) AAACAAGAGAGAGGCTCTATG 0.572000 9 80 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 59 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796685 62796685 + RNA SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:62796685G>A ENST00000582986.1 - 0 1235 NR_024386.1 GGTTCCTCAGGCTGGTCTGAG 0.682000 19 54 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36064972 36064972 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:36064972G>C ENST00000225893.4 - 6 1652 c.1291C>G c.(1291-1293)Caa>Gaa p.Q431E HNF1B_ENST00000427275.2_Missense_Mutation_p.Q405E|HNF1B_ENST00000561193.1_Missense_Mutation_p.Q405E|HNF1B_ENST00000560016.1_Missense_Mutation_p.Q431E NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 431 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) ATGAGGTTTTGAGATTGCTGG 0.488000 13 69 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126087290 126087290 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:126087290C>T ENST00000318410.7 - 8 1277 c.928G>A c.(928-930)Gca>Aca p.A310T KIAA0196_ENST00000517845.1_Missense_Mutation_p.A162T NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 310 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GCAGTTTTTGCAGCTTTGTAA 0.378000 6 77 0 0 1 0 0 YOD1 55432 broad.mit.edu 37 1 207222776 207222776 + Nonsense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:207222776C>T ENST00000367084.1 - 4 708 c.504G>A c.(502-504)tgG>tgA p.W168* YOD1_ENST00000315927.4_Nonsense_Mutation_p.W212*|YOD1_ENST00000391927.1_Nonsense_Mutation_p.W168* NM_001276320.1 NP_001263249.1 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase 212 OTU. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) CCCTTTTGATCCAGTCACAGT 0.418000 12 222 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402920 248402920 + Silent SNP T T C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:248402920T>C ENST00000306687.1 + 1 690 c.690T>C c.(688-690)tcT>tcC p.S230S NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACATGGGCTCTGGGGAAAGTC 0.488000 21 89 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139404312 139404312 + Nonsense_Mutation SNP C C A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr9:139404312C>A ENST00000277541.6 - 18 2917 c.2842G>T c.(2842-2844)Gag>Tag p.E948* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 948 EGF-like 25; calcium-binding (Potential). 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 p.E948*(1)|p.E949*(1) 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) CTGGCACACTCGTTGATGTCC 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 51 115 1.86277e-20 2.04599e-20 1 1 0 DHRS7C 201140 broad.mit.edu 37 17 9680514 9680514 + Silent SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:9680514C>T ENST00000330255.4 - 4 582 c.570G>A c.(568-570)acG>acA p.T190T DHRS7C_ENST00000571134.1_Silent_p.T189T NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 190 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 ACTTACAAGTCGTACGGAACG 0.423000 4 28 0 0 1 0 0 RTCA 8634 broad.mit.edu 37 1 100741195 100741195 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:100741195G>A ENST00000370128.4 + 7 825 c.656G>A c.(655-657)aGa>aAa p.R219K RTCA_ENST00000260563.4_Missense_Mutation_p.R232K NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 219 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity AGATGCATCAGAAAGGAGATC 0.353000 24 39 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57992361 57992361 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr16:57992361C>G ENST00000564448.1 - 11 832 c.772G>C c.(772-774)Gag>Cag p.E258Q CNGB1_ENST00000251102.8_Missense_Mutation_p.E264Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.E264Q Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 264 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 AAGGCCATCTCCAGCCTGTGC 0.622000 11 60 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23200873 23200873 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr16:23200873G>C ENST00000300061.2 + 3 642 c.499G>C c.(499-501)Gag>Cag p.E167Q NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 167 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TGATCAGGATGAGAAGGGCAA 0.562000 25 254 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179482515 179482515 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:179482515C>T ENST00000589042.1 - 253 47787 c.47563G>A c.(47563-47565)Gat>Aat p.D15855N TTN_ENST00000359218.5_Missense_Mutation_p.D6915N|TTN_ENST00000342175.6_Missense_Mutation_p.D6982N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D13287N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6790N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14214N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14214 Fibronectin type-III 15. 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) CCAATTGGATCAGCAACTTTG 0.383000 19 75 0 0 1 0 0 PTK2 5747 broad.mit.edu 37 8 141685543 141685543 + Missense_Mutation SNP T T A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:141685543T>A ENST00000395218.2 - 28 2847 c.2618A>T c.(2617-2619)aAt>aTt p.N873I PTK2_ENST00000430260.2_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000340930.3_Missense_Mutation_p.N873I|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000519419.1_Intron Q05397 FAK1_HUMAN protein tyrosine kinase 2 867 Interaction with TGFB1I1.|Pro-rich. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TTCCGCCCAATTCTTTTCTTC 0.363000 4 23 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41159288 41159288 + Silent SNP C C A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr5:41159288C>A ENST00000263413.3 - 12 2016 c.1752G>T c.(1750-1752)tcG>tcT p.S584S C6_ENST00000337836.5_Silent_p.S584S NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 584 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTCGGGTTCTCGATCTCTTAT 0.498000 37 69 1.90571e-15 2.07614e-15 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38905899 38905899 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:38905899G>A ENST00000359357.3 + 76 11316 c.11062G>A c.(11062-11064)Gga>Aga p.G3688R DNAH8_ENST00000441566.1_Missense_Mutation_p.G3652R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.G3905R dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGCCACCCGCGGAAGCATCCT 0.522000 12 64 0 0 1 0 0 HOXC8 3224 broad.mit.edu 37 12 54403466 54403466 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr12:54403466C>T ENST00000040584.4 + 1 635 c.398C>T c.(397-399)tCg>tTg p.S133L NM_022658.3 NP_073149.1 P31273 HXC8_HUMAN homeobox C8 133 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 8 AATCAAAACTCGTCTCCCAGC 0.557000 13 208 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94554915 94554915 + Missense_Mutation SNP A A G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:94554915A>G ENST00000433060.2 + 4 1482 c.1341A>G c.(1339-1341)atA>atG p.I447M AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.I397M|AMOTL1_ENST00000539727.1_3'UTR NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 447 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) TGGTGGAGATATTAACAGAGG 0.602000 9 87 0 0 1 0 0 OR2B3 442184 broad.mit.edu 37 6 29054606 29054606 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:29054606G>A ENST00000377173.2 - 1 484 c.420C>T c.(418-420)ttC>ttT p.F140F NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 TCCTTAGGCAGAACCAATAAT 0.488000 17 59 0 0 1 0 0 IL1RAP 3556 broad.mit.edu 37 3 190362143 190362143 + Silent SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:190362143C>G ENST00000412504.2 + 9 1410 c.1158C>G c.(1156-1158)gtC>gtG p.V386V IL1RAP_ENST00000072516.3_Silent_p.V386V|IL1RAP_ENST00000447382.1_Silent_p.V386V|IL1RAP_ENST00000317757.3_Silent_p.V386V|IL1RAP_ENST00000443369.2_Silent_p.V386V|IL1RAP_ENST00000439062.1_Silent_p.V386V Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 386 inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TAGAGATGGTCCTATTTTACC 0.398000 4 45 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22213004 22213004 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:22213004C>G ENST00000356766.6 + 23 3056 c.2908C>G c.(2908-2910)Ctg>Gtg p.L970V PIWIL2_ENST00000521356.1_Missense_Mutation_p.L934V|PIWIL2_ENST00000454009.2_Missense_Mutation_p.L970V NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 970 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GTGCGAGAACCTGTTCTTCCT 0.517000 10 40 0 0 1 0 0 LRRC23 10233 broad.mit.edu 37 12 7014828 7014828 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr12:7014828G>C ENST00000007969.8 + 2 251 c.31G>C c.(31-33)Gag>Cag p.E11Q LRRC23_ENST00000443597.2_Missense_Mutation_p.E11Q|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000429740.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000433346.1_Missense_Mutation_p.E11Q|LRRC23_ENST00000323702.5_Missense_Mutation_p.E11Q NM_001135217.1|NM_201650.2 NP_001128689.1|NP_964013.1 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 11 NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 13 AGAAGACTCTGAGCCAGACCA 0.488000 14 73 0 0 1 0 0 KRT32 3882 broad.mit.edu 37 17 39616419 39616419 + Silent SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:39616419G>C ENST00000225899.3 - 7 1393 c.1290C>G c.(1288-1290)gtC>gtG p.V430V NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 430 Tail. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) GTGGCACACAGACGGTGCGGG 0.637000 8 30 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45480097 45480097 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr6:45480097G>A ENST00000371438.1 + 6 1332 c.974G>A c.(973-975)cGg>cAg p.R325Q RUNX2_ENST00000541979.1_Missense_Mutation_p.R393Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.R311Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.R311Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.R325Q|RUNX2_ENST00000371436.6_Missense_Mutation_p.R325Q|RUNX2_ENST00000576263.1_Missense_Mutation_p.R325Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.R393Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 325 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCTTCCACACGGGGCACTGGG 0.592000 20 100 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108355486 108355486 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:108355486G>C ENST00000361582.3 + 11 1172 c.942G>C c.(940-942)ttG>ttC p.L314F DZIP3_ENST00000463306.1_Missense_Mutation_p.L314F NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 314 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AAAAATGTTTGAAGGAAGGAT 0.269000 12 72 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 2 1 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57643053 57643053 + Silent SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:57643053C>G ENST00000251241.4 + 1 168 c.21C>G c.(19-21)gtC>gtG p.V7V DHX40_ENST00000425628.3_Silent_p.V7V|DHX40_ENST00000451169.2_5'UTR NM_024612.4 NP_078888.4 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 7 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTCCCGCAGTCGCGGGCAGGG 0.662000 4 31 0 0 1 0 0 USE1 55850 broad.mit.edu 37 19 17327091 17327091 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr19:17327091G>A ENST00000595101.1 + 4 363 c.345G>A c.(343-345)gcG>gcA p.A115A USE1_ENST00000445667.2_Silent_p.A115A|USE1_ENST00000263897.5_Silent_p.A115A|USE1_ENST00000379776.4_Silent_p.A115A|USE1_ENST00000596136.1_Silent_p.A115A Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog (S. cerevisiae) 115 lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|endometrium(1)|lung(3) 6 AGTCACGGGCGCGGTACACCA 0.612000 24 56 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42041118 42041118 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr15:42041118G>A ENST00000219905.7 + 16 5677 c.5496G>A c.(5494-5496)cgG>cgA p.R1832R MGA_ENST00000570161.1_Silent_p.R1832R|MGA_ENST00000389936.4_Silent_p.R1793R|MGA_ENST00000566586.1_Silent_p.R1623R|MGA_ENST00000545763.1_Silent_p.R1623R NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1793 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCATGTTTCGGAACCCAGGTA 0.398000 11 67 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129147516 129147516 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chrX:129147516G>A ENST00000540052.1 + 3 812 c.768G>A c.(766-768)ccG>ccA p.P256P BCORL1_ENST00000303743.5_Silent_p.P256P|BCORL1_ENST00000359304.2_Silent_p.P256P|BCORL1_ENST00000218147.7_Silent_p.P256P NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 256 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CACCTGTCCCGGCTCTGGCTC 0.622000 24 226 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767475 57767475 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr20:57767475G>A ENST00000371030.2 + 1 1401 c.1401G>A c.(1399-1401)ccG>ccA p.P467P NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 467 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGAGGGCCCCGGGCCCCGTGC 0.662000 6 72 0 0 1 0 0 VRK2 7444 broad.mit.edu 37 2 58362327 58362327 + Silent SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:58362327C>T ENST00000435505.2 + 13 1594 c.849C>T c.(847-849)agC>agT p.S283S VRK2_ENST00000417641.2_Silent_p.S283S|VRK2_ENST00000340157.4_Silent_p.S283S|VRK2_ENST00000440705.2_Silent_p.S260S|VRK2_ENST00000412104.2_Silent_p.S283S Q86Y07 VRK2_HUMAN vaccinia related kinase 2 283 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 CTTCTGGAAGCAGTTGCTGTA 0.413000 22 121 0 0 1 0 0 ANKRD19P 138649 broad.mit.edu 37 9 95599380 95599380 + RNA SNP C C A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr9:95599380C>A ENST00000473204.1 + 0 1461 GCCACCAGTTCAGGCTTCTTG 0.592000 9 54 2.17888e-05 2.26333e-05 1 1 0 CLDN25 644672 broad.mit.edu 37 11 113650687 113650687 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:113650687G>A ENST00000453129.2 + 1 219 c.170G>A c.(169-171)cGa>cAa p.R57Q NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 57 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TGCGTGGATCGAGAGGAAGTC 0.562000 13 150 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204039938 204039938 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr2:204039938C>T ENST00000449802.1 + 41 6638 c.6305C>T c.(6304-6306)tCt>tTt p.S2102F NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2102 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TATTCAAATTCTGCGGGGGTC 0.378000 8 55 0 0 1 0 0 CA3 761 broad.mit.edu 37 8 86360302 86360302 + Nonsense_Mutation SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr8:86360302G>T ENST00000285381.2 + 7 786 c.703G>T c.(703-705)Gag>Tag p.E235* RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 235 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGCTGAGAACGAGCCCCCAGT 0.557000 7 45 8.12818e-05 8.31433e-05 1 1 0 MEX3D 399664 broad.mit.edu 37 19 1556649 1556649 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr19:1556649C>T ENST00000402693.4 - 2 868 c.869G>A c.(868-870)gGg>gAg p.G290E MEX3D_ENST00000388824.6_Missense_Mutation_p.G290E|AC027307.1_ENST00000410788.1_RNA NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 290 KH 2. mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GCCCTTGGGCCCCACCACCAG 0.726000 11 30 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45608813 45608813 + Missense_Mutation SNP G G T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr17:45608813G>T ENST00000322157.4 + 1 384 c.147G>T c.(145-147)agG>agT p.R49S NPEPPS_ENST00000530173.1_Missense_Mutation_p.R45S|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R5S NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 49 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 CGGAGAAGAGGCCCTTCGAGC 0.677000 4 7 0.150653 0.150653 1 1 0 MATR3 9782 broad.mit.edu 37 5 138661938 138661938 + Missense_Mutation SNP C C A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr5:138661938C>A ENST00000394800.2 + 18 3151 c.2602C>A c.(2602-2604)Cat>Aat p.H868N MATR3_ENST00000502929.1_Missense_Mutation_p.H868N|MATR3_ENST00000504203.1_Missense_Mutation_p.H482N|MATR3_ENST00000361059.2_Missense_Mutation_p.H820N|MATR3_ENST00000503811.1_Missense_Mutation_p.H532N|MATR3_ENST00000510056.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.H820N|MATR3_ENST00000394805.3_Missense_Mutation_p.H820N|MATR3_ENST00000502499.1_Missense_Mutation_p.H482N P43243 MATR3_HUMAN matrin 3 820 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAAGAATACTCATTGCAGCAG 0.328000 3 19 0.150653 0.150653 1 1 0 RDX 5962 broad.mit.edu 37 11 110102759 110102759 + Splice_Site SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:110102759C>T ENST00000343115.4 - 14 1907 c.e14-1 RDX_ENST00000544551.1_Splice_Site|RDX_ENST00000528900.1_Splice_Site|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Splice_Site|RDX_ENST00000528498.1_Splice_Site NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) AACTTAATGCCtatttaaaaa 0.279000 17 96 0 0 1 0 0 TERF2 7014 broad.mit.edu 37 16 69400744 69400744 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr16:69400744G>C ENST00000254942.3 - 7 1322 c.1306C>G c.(1306-1308)Ctc>Gtc p.L436V TERF2_ENST00000603068.1_Missense_Mutation_p.L394V NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 394 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) GGTTGGTTGAGAACGGTGGGC 0.562000 4 41 0 0 1 0 0 ALDH9A1 223 broad.mit.edu 37 1 165638641 165638641 + Missense_Mutation SNP T T C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:165638641T>C ENST00000354775.4 - 7 1281 c.977A>G c.(976-978)gAt>gGt p.D326G ALDH9A1_ENST00000538148.1_Missense_Mutation_p.D232G NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 302 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) TGTAAATTTATCAAGAATTTC 0.398000 7 61 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71725814 71725814 + Missense_Mutation SNP G G C TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:71725814G>C ENST00000393695.3 - 15 3066 c.2735C>G c.(2734-2736)aCc>aGc p.T912S RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T912S|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 912 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CTCTTTGCTGGTGGCAGCCAT 0.607000 T RARA APL 118 111 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123481122 123481122 + Silent SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr12:123481122G>A ENST00000280562.5 - 12 1870 c.1665C>T c.(1663-1665)gtC>gtT p.V555V PITPNM2_ENST00000392428.1_Silent_p.V276V|PITPNM2_ENST00000542749.1_Silent_p.V555V|PITPNM2_ENST00000320201.4_Silent_p.V555V Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 555 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CAATCAGGCAGACCTTGGGAG 0.657000 6 71 0 0 1 0 0 FZD4 8322 broad.mit.edu 37 11 86666010 86666010 + Missense_Mutation SNP C C T rs139401671 byFrequency TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr11:86666010C>T ENST00000531380.1 - 1 423 c.118G>A c.(118-120)Gag>Aag p.E40K NM_012193.3 NP_036325.2 Q9ULV1 FZD4_HUMAN frizzled family receptor 4 40 FZ. E -> Q (in EVR1). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1) 21 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGCTCTTCCTCGTCCCCGAAG 0.697000 4 45 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36122515 36122515 + Missense_Mutation SNP C C T TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr22:36122515C>T ENST00000249044.2 + 3 400 c.400C>T c.(400-402)Ctt>Ttt p.L134F NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 134 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 TCACGAGTTGCTTACCAAGAC 0.502000 9 124 0 0 1 0 0 COPS6 10980 broad.mit.edu 37 7 99689087 99689087 + Missense_Mutation SNP C C G TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr7:99689087C>G ENST00000303904.3 + 9 824 c.787C>G c.(787-789)Ctg>Gtg p.L263V COPS6_ENST00000418625.1_Missense_Mutation_p.L262V NM_006833.4 NP_006824.2 Q7L5N1 CSN6_HUMAN COP9 signalosome subunit 6 263 Interaction with Vpr. cullin deneddylation|interspecies interaction between organisms cytoplasm|signalosome protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1) 12 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GGCCTATGCTCTGTGTCACTG 0.507000 33 130 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134230574 134230574 + Missense_Mutation SNP G G A TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr10:134230574G>A ENST00000368609.4 + 3 1525 c.1496G>A c.(1495-1497)cGa>cAa p.R499Q PWWP2B_ENST00000305233.5_3'UTR NM_001098637.1 NP_001092107.1 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 0 PWWP. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GGTCACCGACGATGAGGGCGC 0.632000 69 364 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 8 467 --- --- --- --- PROX1 5629 broad.mit.edu 37 1 214170981 214170981 + Frame_Shift_Del DEL T T - TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr1:214170981delT ENST00000366958.4 + 2 1711 c.1103delT c.(1102-1104)gcfs p.V368fs PROX1_ENST00000498508.2_Frame_Shift_Del_p.V368fs|PROX1_ENST00000261454.4_Frame_Shift_Del_p.V368fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.V368fs NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 368 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GACACTGTGGTCAAAGTCTTT 0.532 9 160 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) 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) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 7 144 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594163 3594163 + RNA DEL A A - rs60164526 TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr16:3594163delA ENST00000301749.7 - 0 3261 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 tgtctcgaggaaaaaaaaaaa 0.488 4 5 --- --- --- --- CNDP2 55748 broad.mit.edu 37 18 72173115 72173119 + Frame_Shift_Del DEL CTATT CTATT - TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr18:72173115_72173119delCTATT ENST00000324262.4 + 4 552_556 c.236_240delCTATT c.(235-240)cfs p.PI79fs CNDP2_ENST00000579847.1_Frame_Shift_Del_p.PI79fs|CNDP2_ENST00000324301.8_Intron NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 79 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CCGCTCCCTCCTATTCTGCTCGGCA 0.576 8 48 --- --- --- --- ZNF761 388561 broad.mit.edu 37 19 53946133 53946133 + RNA DEL A A - rs35108555 TCGA-BB-8596-01A-11D-2394-08 TCGA-BB-8596-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77ded927-d328-4fbd-a9b6-22186c6e8d16 2c431744-ff25-4064-933b-53037e011d1e g.chr19:53946133delA ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TCATGTTGTGAAAAAAAAAAT 0.348 4 3 --- --- --- ---