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 RTTN 25914 broad.mit.edu 37 18 67727116 67727116 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr18:67727116C>T ENST00000255674.6 - 36 5196 c.4910G>A c.(4909-4911)cGa>cAa p.R1637Q RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1637 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ATGAGCTTGTCGAAAAGCCTT 0.403000 9 10 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810250 106810250 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr11:106810250C>T ENST00000526355.1 - 4 1610 c.1142G>A c.(1141-1143)cGa>cAa p.R381Q GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R381Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R381Q NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 381 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GGTAGACAGTCGCAGCAGGAC 0.463000 31 46 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183231 39183231 + Silent SNP A A G TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr17:39183231A>G ENST00000361883.5 - 1 223 c.177T>C c.(175-177)agT>agC p.S59S NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 59 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGCAGCAACTGGAGCTGC 0.617000 3 55 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61541166 61541166 + Missense_Mutation SNP T T C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr20:61541166T>C ENST00000266070.4 - 4 1371 c.1046A>G c.(1045-1047)gAt>gGt p.D349G DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 349 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTTGTACAATCGGTGCCATC 0.463000 30 68 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123848881 123848881 + Missense_Mutation SNP G G C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr4:123848881G>C ENST00000274008.3 + 2 325 c.256G>C c.(256-258)Gtg>Ctg p.V86L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 86 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AGGTCGACCAGTGTTGCTTAC 0.343000 34 55 0 0 1 0 0 ASB6 140459 broad.mit.edu 37 9 132401543 132401543 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr9:132401543C>T ENST00000277458.4 - 4 614 c.449G>A c.(448-450)cGc>cAc p.R150H ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Missense_Mutation_p.R71H NM_017873.3 NP_060343.1 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box containing 6 150 intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) GCAGGGCAGGCGCTCAGGCTC 0.652000 25 69 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946393 16946393 + RNA SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:16946393G>A ENST00000412962.1 - 0 1126 TCCTGCTGCAGGGCAGCAATC 0.662000 3 22 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725912 87725912 + Missense_Mutation SNP G G A rs61735411 TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr6:87725912G>A ENST00000305344.4 + 2 1563 c.860G>A c.(859-861)cGg>cAg p.R287Q HTR1E_ENST00000369584.1_Missense_Mutation_p.R287Q NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 287 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.R287Q(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ACCAGGGAACGGAAGGCAGCA 0.502000 31 84 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108199783 108199783 + Silent SNP T T C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr11:108199783T>C ENST00000278616.4 + 49 7510 c.7125T>C c.(7123-7125)agT>agC p.S2375S C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.S2375S NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2375 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATGGAGAAAGTAGTGATGAGC 0.323000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 17 27 0 0 1 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111540132 111540132 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr5:111540132G>A ENST00000261486.5 - 15 1592 c.1316C>T c.(1315-1317)aCg>aTg p.T439M EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000506875.1_RNA NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 439 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TCGGCGACGCGTGTAAGGGAA 0.498000 33 78 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 215274874 215274874 + Silent SNP A A G TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr2:215274874A>G ENST00000331683.5 + 16 1826 c.1731A>G c.(1729-1731)ttA>ttG p.L577L AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 577 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GTCGAGTTTTAGCTCAGGCAA 0.413000 3 48 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88260094 88260094 + Silent SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr10:88260094C>T ENST00000298767.5 - 3 1378 c.906G>A c.(904-906)acG>acA p.T302T NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 302 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GGGAGGATTTCGTTTTATTGG 0.428000 49 91 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328894 152328894 + Missense_Mutation SNP A A T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:152328894A>T ENST00000388718.5 - 3 1440 c.1368T>A c.(1366-1368)caT>caA p.H456Q FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 456 Ser-rich. calcium ion binding|structural molecule activity 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) ATGTAGACTCATGCTGGCCAC 0.493000 4 154 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139874417 139874417 + Silent SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr9:139874417C>T ENST00000224167.2 + 4 528 c.453C>T c.(451-453)tcC>tcT p.S151S PTGDS_ENST00000371625.3_Silent_p.S117S P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 117 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCACCTACTCCGTGTCAGTGG 0.632000 6 127 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 105 0 0 1 0 0 PROC 5624 broad.mit.edu 37 2 128186098 128186098 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr2:128186098C>T ENST00000453608.2 + 8 1135 c.1127C>T c.(1126-1128)cCg>cTg p.P376L PROC_ENST00000409048.1_Missense_Mutation_p.P355L|PROC_ENST00000422777.3_Missense_Mutation_p.P321L|PROC_ENST00000234071.3_Missense_Mutation_p.P321L P04070 PROC_HUMAN protein C (inactivator of coagulation factors Va and VIIIa) 321 Peptidase S1. blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|protein binding|serine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0673) Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464) ATCTGCCTCCCGGACAGCGGC 0.652000 22 52 0 0 1 0 0 NSMF 26012 broad.mit.edu 37 9 140347026 140347026 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr9:140347026C>T ENST00000371475.3 - 11 1375 c.1144G>A c.(1144-1146)Gca>Aca p.A382T NSMF_ENST00000371482.1_Missense_Mutation_p.A46T|NSMF_ENST00000541195.1_Missense_Mutation_p.A179T|NSMF_ENST00000339554.3_Missense_Mutation_p.A179T|NSMF_ENST00000371474.3_Missense_Mutation_p.A357T|NSMF_ENST00000392812.4_Missense_Mutation_p.A359T|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000437259.1_Missense_Mutation_p.A359T|NSMF_ENST00000371473.3_Missense_Mutation_p.A352T|NSMF_ENST00000371472.2_Missense_Mutation_p.A380T|NSMF_ENST00000371468.1_3'UTR|NSMF_ENST00000265663.7_Missense_Mutation_p.A380T NM_001130969.1 NP_001124441.1 NMDA receptor synaptonuclear signaling and neuronal migration factor TCGAAGGTTGCGTGCTCATGG 0.657000 7 19 0 0 1 0 0 EXOC1 55763 broad.mit.edu 37 4 56755065 56755065 + Missense_Mutation SNP C C G TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr4:56755065C>G ENST00000381295.2 + 11 1690 c.1342C>G c.(1342-1344)Cga>Gga p.R448G EXOC1_ENST00000349598.6_Intron|EXOC1_ENST00000346134.7_Missense_Mutation_p.R448G NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 448 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) TACACTGCCTCGAAAAGAAAG 0.373000 15 44 0 0 1 0 0 ARL17A 51326 broad.mit.edu 37 17 44594556 44594556 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr17:44594556G>A ENST00000337845.7 - 5 707 c.569C>T c.(568-570)gCg>gTg p.A190V ARL17A_ENST00000445552.2_Silent_p.C101C|LRRC37A2_ENST00000333412.3_Intron|LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000329240.4_Silent_p.C101C Q8IVW1 ARL17_HUMAN ADP-ribosylation factor-like 17A 0 protein transport|vesicle-mediated transport Golgi apparatus GTP binding lung(1) 1 CGGTGACCCCGCATAATTTCT 0.413000 6 376 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185159704 185159704 + Missense_Mutation SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:185159704G>T ENST00000367500.4 + 10 1618 c.1453G>T c.(1453-1455)Gat>Tat p.D485Y SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 485 PINc. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TGAGAACAATGATGATCGAGT 0.363000 10 30 1.5842e-08 1.7728e-08 1 1 0 PRKDC 5591 broad.mit.edu 37 8 48776073 48776073 + Silent SNP C C A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr8:48776073C>A ENST00000314191.2 - 43 5690 c.5634G>T c.(5632-5634)gtG>gtT p.V1878V PRKDC_ENST00000338368.3_Silent_p.V1878V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1879 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAGAATACATCACGTCTAGAA 0.333000 Non-homologous end-joining 35 70 3.21399e-22 3.87328e-22 1 1 0 ST3GAL6 10402 broad.mit.edu 37 3 98487336 98487336 + Missense_Mutation SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr3:98487336G>T ENST00000394162.1 + 3 519 c.52G>T c.(52-54)Gta>Tta p.V18L ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L NM_006100.2 NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 18 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 CCTCTATTATGTACTGCATTG 0.398000 41 88 3.76604e-16 4.42509e-16 1 1 0 PPP5C 5536 broad.mit.edu 37 19 46891954 46891954 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr19:46891954C>T ENST00000012443.4 + 11 1424 c.1321C>T c.(1321-1323)Cgc>Tgc p.R441C PPP5C_ENST00000391919.1_Missense_Mutation_p.R313C NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 441 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TCACGGAGGCCGCTGTGTCAC 0.557000 32 55 0 0 1 0 0 GCNT2 2651 broad.mit.edu 37 6 10556756 10556756 + Nonsense_Mutation SNP C C T rs55965450 TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr6:10556756C>T ENST00000316170.3 + 1 517 c.100C>T c.(100-102)Caa>Taa p.Q34* GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 35 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TCCAAGCTTCCAAAGGCTAAA 0.373000 36 70 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41117233 41117233 + Silent SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr19:41117233G>T ENST00000308370.7 + 16 2187 c.2187G>T c.(2185-2187)acG>acT p.T729T LTBP4_ENST00000545697.1_Silent_p.T182T|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.T692T|LTBP4_ENST00000396819.3_Silent_p.T662T NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 729 Cys-rich.|EGF-like 7; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGACAACACGGCAGGCTCCT 0.697000 6 16 3.59834e-05 3.75826e-05 1 1 0 SPAM1 0 broad.mit.edu 37 7 123594460 123594460 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr7:123594460G>A ENST00000340011.5 + 3 1193 c.836G>A c.(835-837)cGc>cAc p.R279H SPAM1_ENST00000439500.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 279 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CTCTATGTGCGCAATCGAGTT 0.428000 4 104 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79781636 79781636 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr10:79781636G>A ENST00000372371.3 - 7 1167 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 344 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCCTTCAGGCGTTGGACGAAG 0.527000 15 29 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113887612 113887612 + Missense_Mutation SNP A A C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr13:113887612A>C ENST00000451881.1 + 6 583 c.334A>C c.(334-336)Agc>Cgc p.S112R CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R|CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 212 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CGTGGACCGGAGCCTGTTGCG 0.542000 13 41 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54872560 54872560 + Nonsense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr19:54872560C>T ENST00000391743.3 - 2 553 c.273G>A c.(271-273)tgG>tgA p.W91* LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 109 Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCTGCTCAGACCATTTAGGGG 0.557000 32 95 0 0 1 0 0 CNR1 0 broad.mit.edu 37 6 88853757 88853757 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr6:88853757G>A ENST00000537554.1 - 2 4799 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S CNR1_ENST00000549890.1_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000549716.1_Missense_Mutation_p.P352S NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 413 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCACAAGAGGGAAACATGCTC 0.562000 33 75 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55039950 55039950 + Missense_Mutation SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chrX:55039950G>T ENST00000330807.5 - 10 1706 c.1569C>A c.(1567-1569)caC>caA p.H523Q ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q|ALAS2_ENST00000498636.1_Intron NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 523 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GAGGGCTGTGGTGGGGGGAGG 0.572000 12 7 0.00010058 0.00010058 1 1 0 NLRP9 338321 broad.mit.edu 37 19 56223890 56223890 + Silent SNP C C A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr19:56223890C>A ENST00000332836.2 - 7 2595 c.2568G>T c.(2566-2568)ggG>ggT p.G856G NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 856 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCTTCAGTTTCCCATTGCAAA 0.448000 10 25 7.48243e-07 7.99259e-07 1 1 0 OLFML2B 25903 broad.mit.edu 37 1 161987210 161987210 + Nonsense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:161987210G>A ENST00000294794.3 - 3 949 c.526C>T c.(526-528)Cga>Tga p.R176* OLFML2B_ENST00000367940.2_Nonsense_Mutation_p.R176* NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 176 p.R176*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TTATCCACTCGCCCCACCAGT 0.443000 4 151 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70352868 70352868 + Splice_Site SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr15:70352868C>T ENST00000558939.1 - 9 2092 c.e9+1 TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000557907.1_Splice_Site Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CTTGGACGTACGTATCGGCTC 0.627000 21 32 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281238 142281238 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr3:142281238G>A ENST00000350721.4 - 4 1127 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W ATR_ENST00000383101.3_Missense_Mutation_p.R336W NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 336 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.R336W(2) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GACTTAAGCCGCATGAGCACA 0.388000 Other conserved DNA damage response genes 4 75 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28473512 28473512 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr6:28473512C>T ENST00000361902.1 - 4 476 c.427G>A c.(427-429)Gaa>Aaa p.E143K GPX6_ENST00000474923.1_Intron NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 143 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TGTTCTTTTTCTCCATTCACA 0.463000 17 35 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 5 218 8.12818e-05 8.30488e-05 1 1 0 MYOT 9499 broad.mit.edu 37 5 137213210 137213210 + Splice_Site SNP G G A rs150293853 TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr5:137213210G>A ENST00000239926.4 + 4 907 c.531_splice c.e4-1 p.R178_splice MYOT_ENST00000515645.1_Splice_Site_p.R63_splice|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR|RP11-381K20.2_ENST00000514616.1_RNA NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 178 muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle p.R178H(1) cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TCTCTAAAGCGTCTAACATAT 0.398000 6 59 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377936 60377936 + Frame_Shift_Del DEL T T - TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:60377936delT ENST00000371204.3 - 3 464 c.421delA c.(421-423)ctfs p.T141fs CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 141 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GCTGTCAGAGTGAACCTTCTT 0.418 9 124 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 3 3 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 6 3 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101721933 101721933 + Frame_Shift_Del DEL T T - rs112966887 TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr8:101721933delT ENST00000318607.5 - 8 2127 c.999delA c.(997-999)aafs p.K333fs PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 333 RRM 4. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) AACCAAACCCTTTGCTGCGAC 0.383 11 55 --- --- --- ---