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 MTA2 9219 broad.mit.edu 37 11 62362837 62362837 + Missense_Mutation SNP A A G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr11:62362837A>G ENST00000278823.2 - 14 1771 c.1382T>C c.(1381-1383)cTg>cCg p.L461P MTA2_ENST00000527204.1_Missense_Mutation_p.L288P|MTA2_ENST00000524902.1_Missense_Mutation_p.L288P NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 461 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 AAGACGGGTCAGCTTTGTGGT 0.537000 12 99 0 0 0.080935 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655071 31655071 + Nonsense_Mutation SNP G G T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr21:31655071G>T ENST00000340345.4 - 1 205 c.180C>A c.(178-180)taC>taA p.Y60* NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 60 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 ATTCTTGGCAGTAATCCAGGA 0.512000 7 82 5.68852e-11 8.76033e-11 0.047766 1 0 SUPT6H 6830 broad.mit.edu 37 17 27003436 27003436 + Silent SNP T T G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr17:27003436T>G ENST00000314616.6 + 7 1168 c.885T>G c.(883-885)ccT>ccG p.P295P SUPT6H_ENST00000347486.4_Silent_p.P295P NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 295 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CTGACCTGCCTGAGAGGTTCC 0.463000 5 71 0 0 0.021553 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48558162 48558162 + Missense_Mutation SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:48558162G>A ENST00000354276.3 - 15 1729 c.1402C>T c.(1402-1404)Ccc>Tcc p.P468S PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P468S|PLA2G4C_ENST00000596510.1_5'UTR|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P478S|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P468S NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 468 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding p.P468T(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TTGAACAGGGGAAAATGCATC 0.517000 10 83 0 0 0.069234 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092804 30092804 + RNA SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr18:30092804C>T ENST00000567636.1 + 0 1179 NR_003558.1 CTTCGTATGGCAGGTCAAGAA 0.433000 6 37 0 0 0.021553 0 0 SAMHD1 25939 broad.mit.edu 37 20 35533856 35533856 + Missense_Mutation SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr20:35533856C>T ENST00000262878.4 - 12 1520 c.1321G>A c.(1321-1323)Gca>Aca p.A441T NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 441 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ATCTCTCGTGCGTCTTTCAAT 0.318000 6 61 0 0 0.021553 0 0 OGDHL 55753 broad.mit.edu 37 10 50964886 50964886 + Missense_Mutation SNP C C T rs145127820 by1000genomes TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr10:50964886C>T ENST00000374103.4 - 3 396 c.311G>A c.(310-312)cGg>cAg p.R104Q OGDHL_ENST00000419399.1_Intron|OGDHL_ENST00000432695.1_Intron NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 104 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGTCTTGGTCCGACTTGAGAC 0.612000 8 57 0 0 0.058154 0 0 TESPA1 9840 broad.mit.edu 37 12 55368298 55368298 + Missense_Mutation SNP A A G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr12:55368298A>G ENST00000449076.1 - 2 181 c.49T>C c.(49-51)Tgg>Cgg p.W17R TESPA1_ENST00000316577.8_Missense_Mutation_p.W17R NM_001136030.2 NP_001129502.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 17 TGACGGAGCCAGGCCCGCCGT 0.632000 4 9 0 0 0.009096 0 0 ZNF200 7752 broad.mit.edu 37 16 3274335 3274335 + Silent SNP T T G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr16:3274335T>G ENST00000431561.3 - 5 1357 c.745A>C c.(745-747)Agg>Cgg p.R249R ZNF200_ENST00000396871.4_Silent_p.R248R|ZNF200_ENST00000414144.2_Silent_p.R249R|ZNF200_ENST00000575948.1_Silent_p.R248R|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Silent_p.R248R|ZNF200_ENST00000396870.4_Silent_p.R248R NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 TACCATCTCCTTGTCCTCCGA 0.418000 7 65 0 0 0.029380 0 0 GDF9 2661 broad.mit.edu 37 5 132199850 132199850 + Missense_Mutation SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr5:132199850C>T ENST00000378673.2 - 2 1242 c.376G>A c.(376-378)Gct>Act p.A126T GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.A126T O60383 GDF9_HUMAN growth differentiation factor 9 126 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTCCAGGAGCCTGCTTGTGC 0.468000 11 83 0 0 0.093190 0 0 SEC14L3 266629 broad.mit.edu 37 22 30864641 30864641 + Missense_Mutation SNP G G A rs116683933 by1000genomes TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr22:30864641G>A ENST00000403066.1 - 6 383 c.100C>T c.(100-102)Cgt>Tgt p.R34C SEC14L3_ENST00000540910.1_Missense_Mutation_p.R16C|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R34C|SEC14L3_ENST00000415957.2_Missense_Mutation_p.R34C|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R16C|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R93C|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R34C Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 93 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) CAGCCATCACGGTCATAGCCA 0.547000 6 105 0 0 0.029380 0 0 PYGM 5837 broad.mit.edu 37 11 64521112 64521112 + Missense_Mutation SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr11:64521112G>A ENST00000164139.3 - 11 1680 c.1282C>T c.(1282-1284)Cgc>Tgc p.R428C PYGM_ENST00000377432.3_Missense_Mutation_p.R340C NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 428 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCGACATGCGCCGCAGCCGG 0.687000 4 14 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179397281 179397281 + Silent SNP A A T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr2:179397281A>T ENST00000589042.1 - 358 104285 c.104061T>A c.(104059-104061)ctT>ctA p.L34687L TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.L32119L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.L25814L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.L25622L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Silent_p.L25747L|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.L33046L|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33046 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) AACCTAACTCAAGCTCTTCTT 0.473000 10 91 0 0 0.058154 0 0 AP2A1 160 broad.mit.edu 37 19 50306626 50306626 + Silent SNP C C G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:50306626C>G ENST00000354293.5 + 18 2503 c.2337C>G c.(2335-2337)ctC>ctG p.L779L AP2A1_ENST00000359032.5_Silent_p.L801L NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 801 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CGGGAGACCTCCAGACTCATA 0.607000 6 24 0 0 0.038147 0 0 WASH6P 653440 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 4 31 0 0 0.014758 0 0 ADCY9 115 broad.mit.edu 37 16 4165247 4165247 + Missense_Mutation SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr16:4165247C>T ENST00000294016.3 - 2 735 c.197G>A c.(196-198)cGa>cAa p.R66Q NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 66 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCCGCCCACTCGCCGGGGGAC 0.667000 5 26 0 0 0.014758 0 0 HECTD4 283450 broad.mit.edu 37 12 112600844 112600844 + Splice_Site SNP A A C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr12:112600844A>C ENST00000550722.1 - 75 13078 c.e75+1 HECTD4_ENST00000430131.2_Splice_Site|HECTD4_ENST00000377560.5_Splice_Site NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGAGGGCGGTACCTGCTGTGC 0.617000 5 87 0 0 0.021553 0 0 RYR1 6261 broad.mit.edu 37 19 38933075 38933075 + Silent SNP G G C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:38933075G>C ENST00000355481.4 + 3 383 c.252G>C c.(250-252)acG>acC p.T84T RYR1_ENST00000359596.3_Silent_p.T84T|RYR1_ENST00000360985.3_Silent_p.T84T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 84 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGCTAACACGGTGGAGGCTG 0.667000 4 54 0 0 0.009096 0 0 SPTA1 6708 broad.mit.edu 37 1 158631122 158631122 + Missense_Mutation SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr1:158631122G>A ENST00000368148.3 - 18 2722 c.2542C>T c.(2542-2544)Cgc>Tgc p.R848C SPTA1_ENST00000368147.3_Missense_Mutation_p.R848C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 848 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTTGAATGCGTGGTTCATGG 0.438000 9 89 0 0 0.047766 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904081 56904081 + Silent SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr16:56904081C>T ENST00000438926.2 + 5 704 c.675C>T c.(673-675)ttC>ttT p.F225F SLC12A3_ENST00000563236.1_Silent_p.F225F|SLC12A3_ENST00000262502.5_Silent_p.F224F|SLC12A3_ENST00000566786.1_Silent_p.F224F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 225 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TTTTCGCTTTCGCCAATGCCG 0.647000 6 87 0 0 0.029380 0 0 NAV3 89795 broad.mit.edu 37 12 78513568 78513568 + Missense_Mutation SNP G G T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr12:78513568G>T ENST00000397909.2 + 15 3765 c.3592G>T c.(3592-3594)Gac>Tac p.D1198Y NAV3_ENST00000228327.6_Missense_Mutation_p.D1198Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D1198Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D1198Y Q8IVL0 NAV3_HUMAN neuron navigator 3 1198 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAACCAAACAGACAAGGAAAA 0.527000 HNSCC(70;0.22) 6 58 0.00116845 0.00163582 0.021553 1 0 RAB11FIP4 84440 broad.mit.edu 37 17 29848989 29848989 + Missense_Mutation SNP T T A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr17:29848989T>A ENST00000325874.8 + 6 1044 c.815T>A c.(814-816)gTt>gAt p.V272D RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.V170D NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 272 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TTGCTAGATGTTTACTGCTCT 0.522000 9 62 0 0 0.047766 0 0 UNC5B 219699 broad.mit.edu 37 10 73047465 73047465 + Missense_Mutation SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr10:73047465G>A ENST00000335350.6 + 6 1260 c.844G>A c.(844-846)Ggg>Agg p.G282R UNC5B_ENST00000373192.4_Missense_Mutation_p.G282R NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 282 TSP type-1 1. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ACTCAACGGAGGGGCCTTCTG 0.667000 5 66 0 0 0.014758 0 0 CGGBP1 8545 broad.mit.edu 37 3 88105073 88105073 + Silent SNP A A G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr3:88105073A>G ENST00000398392.2 - 1 1386 c.54T>C c.(52-54)gcT>gcC p.A18A CGGBP1_ENST00000309534.6_Silent_p.A18A|CGGBP1_ENST00000482016.1_Silent_p.A18A|CGGBP1_ENST00000462901.1_Silent_p.A18A Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) TCACATACAAAGCAGTCTTAG 0.428000 4 78 0 0 0.014758 0 0 RHCE 6006 broad.mit.edu 37 1 25718526 25718526 + Missense_Mutation SNP T T C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr1:25718526T>C ENST00000349320.3 - 6 933 c.545A>G c.(544-546)aAt>aGt p.N182S RHCE_ENST00000294413.7_Missense_Mutation_p.N198S|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.N198S|RHCE_ENST00000413854.1_Missense_Mutation_p.N198S|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000374352.2_Missense_Mutation_p.N182S|RHCE_ENST00000349438.4_Missense_Mutation_p.N198S|RHCE_ENST00000425135.1_Missense_Mutation_p.N198S P18577 RHCE_HUMAN Rh blood group, CcEe antigens 198 T -> S (in dbSNP:rs1053350). integral to plasma membrane endometrium(8)|large_intestine(6)|lung(3) 17 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTGATCATTATCCTCCGT 0.527000 5 102 0 0 0.014758 0 0 CHDC2 286464 broad.mit.edu 37 X 36117961 36117961 + Missense_Mutation SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chrX:36117961C>T ENST00000378660.1 + 7 1005 c.817C>T c.(817-819)Cgg>Tgg p.R273W CHDC2_ENST00000313548.4_Missense_Mutation_p.R273W calponin homology domain containing 2 CTGGAGTAAACGGGCATGGAC 0.333000 5 18 0 0 0.021553 0 0 TMEM67 91147 broad.mit.edu 37 8 94767313 94767313 + Silent SNP C C A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr8:94767313C>A ENST00000453321.3 + 1 229 c.171C>A c.(169-171)atC>atA p.I57I TMEM67_ENST00000409623.3_5'UTR NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 57 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) ACTTTGATATCTCCGCCCTCT 0.552000 14 125 0.000219431 0.000318797 0.020292 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107423242 107423242 + Silent SNP G G T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr2:107423242G>T ENST00000409382.3 - 6 2092 c.1482C>A c.(1480-1482)cgC>cgA p.R494R ST6GAL2_ENST00000361686.4_Silent_p.R494R NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 494 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CCATGTTCAGGCGCTGCACCA 0.622000 7 83 8.12818e-05 0.00012036 0.029380 1 0 LCOR 84458 broad.mit.edu 37 10 98711952 98711952 + Splice_Site SNP G G C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr10:98711952G>C ENST00000540664.1 + 7 874 c.332_splice c.e7+1 p.G111_splice LCOR_ENST00000371097.4_Splice_Site_p.G111_splice|LCOR_ENST00000356016.3_Splice_Site_p.G111_splice|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000371103.3_Splice_Site_p.G111_splice NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) TCAAGGGAACGGGTAAGGGAG 0.438000 6 66 0 0 0.029380 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 49 0 0 0.009096 0 0 ROCK1 6093 broad.mit.edu 37 18 18650556 18650556 + Missense_Mutation SNP C C A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr18:18650556C>A ENST00000399799.1 - 2 1052 c.112G>T c.(112-114)Gta>Tta p.V38L NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 38 actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AAATCATATACCAAAGCATCC 0.294000 4 19 0.000602214 0.000858713 0.014758 1 0 RHOT2 89941 broad.mit.edu 37 16 721945 721945 + Missense_Mutation SNP G G C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr16:721945G>C ENST00000315082.4 + 13 1154 c.1040G>C c.(1039-1041)cGc>cCc p.R347P NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 347 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) GAGCTCCCACGCACAGTCCGC 0.697000 8 84 0 0 0.038147 0 0 SCN3A 6328 broad.mit.edu 37 2 165984435 165984435 + Silent SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr2:165984435C>T ENST00000360093.3 - 18 3590 c.3099G>A c.(3097-3099)aaG>aaA p.K1033K SCN3A_ENST00000283254.7_Silent_p.K1033K|SCN3A_ENST00000409101.3_Silent_p.K984K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1033 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TAACTTTTGGCTTTCTAAAAA 0.333000 4 60 0 0 0.009096 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717373 2717373 + Silent SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:2717373G>A ENST00000323469.4 - 2 615 c.432C>T c.(430-432)tgC>tgT p.C144C DIRAS1_ENST00000585334.1_Silent_p.C144C NM_145173.3 NP_660156.1 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 144 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|lung(2)|ovary(2)|prostate(1) 6 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) CCATGAAAGCGCACTTCCACT 0.622000 13 90 0 0 0.105934 0 0 EPB41L3 23136 broad.mit.edu 37 18 5433980 5433980 + Missense_Mutation SNP T T C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr18:5433980T>C ENST00000341928.2 - 7 1086 c.746A>G c.(745-747)tAc>tGc p.Y249C EPB41L3_ENST00000540638.2_Missense_Mutation_p.Y249C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.Y249C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.Y249C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.Y249C NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 249 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CTCACTAATGTAATCGCTCCC 0.517000 13 119 0 0 0.028581 0 0 NLRP13 126204 broad.mit.edu 37 19 56443372 56443372 + Silent SNP T T C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:56443372T>C ENST00000588751.1 - 1 330 c.306A>G c.(304-306)agA>agG p.R102R NLRP13_ENST00000342929.3_Silent_p.R102R Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 102 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TCATCTCGGCTCTAACTTTCT 0.517000 8 33 0 0 0.047766 0 0 MUC16 94025 broad.mit.edu 37 19 9008336 9008336 + Silent SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:9008336C>T ENST00000397910.4 - 41 39419 c.39216G>A c.(39214-39216)aaG>aaA p.K13072K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13074 SEA 7. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGCCCCATCCTTCTCAGACC 0.557000 12 123 0 0 0.080935 0 0 ODF2 4957 broad.mit.edu 37 9 131233743 131233743 + Missense_Mutation SNP A A G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr9:131233743A>G ENST00000303890.5 + 8 1090 c.505A>G c.(505-507)Acc>Gcc p.T169A ODF2_ENST00000372791.3_Missense_Mutation_p.T174A|ODF2_ENST00000448249.3_Missense_Mutation_p.T112A|ODF2_ENST00000444119.2_Missense_Mutation_p.T169A|ODF2_ENST00000434106.2_Missense_Mutation_p.T193A|ODF2_ENST00000393533.2_Missense_Mutation_p.T193A|ODF2_ENST00000372796.4_Missense_Mutation_p.T193A|ODF2_ENST00000372814.3_Missense_Mutation_p.T237A|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Missense_Mutation_p.T188A|ODF2_ENST00000546203.1_Missense_Mutation_p.T174A|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.T188A NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 193 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GAAGGACTTCACCATGTAAGG 0.577000 3 62 0 0 0.004672 0 0 MED12 9968 broad.mit.edu 37 X 70343061 70343061 + Silent SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chrX:70343061G>A ENST00000333646.6 + 11 1801 c.1602G>A c.(1600-1602)gcG>gcA p.A534A MED12_ENST00000374080.3_Silent_p.A534A|MED12_ENST00000374102.1_Silent_p.A534A NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 534 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AGAGACAGGCGGAGATTGAGG 0.532000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 5 21 0 0 0.021553 0 0 SERPINA5 5104 broad.mit.edu 37 14 95056549 95056549 + Missense_Mutation SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr14:95056549C>T ENST00000329597.7 + 4 1001 c.791C>T c.(790-792)aCg>aTg p.T264M SERPINA5_ENST00000554276.1_Missense_Mutation_p.T264M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.T264M|SERPINA5_ENST00000554866.1_Missense_Mutation_p.T264M NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 264 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity p.T264M(1) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GGCAATGCCACGGCTTTGTTC 0.552000 7 34 0 0 0.038147 0 0 SMG5 23381 broad.mit.edu 37 1 156247793 156247793 + Missense_Mutation SNP A A G TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr1:156247793A>G ENST00000361813.5 - 3 364 c.220T>C c.(220-222)Tat>Cat p.Y74H SMG5_ENST00000368267.4_Missense_Mutation_p.Y74H NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 74 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TTTCTCCCATAGTCCACTGGG 0.502000 6 67 0 0 0.021553 0 0 HDAC9 9734 broad.mit.edu 37 7 18767353 18767353 + Missense_Mutation SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr7:18767353C>T ENST00000406451.3 + 13 2023 c.1873C>T c.(1873-1875)Cgc>Tgc p.R625C HDAC9_ENST00000441542.2_Missense_Mutation_p.R628C|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625C|HDAC9_ENST00000401921.1_Missense_Mutation_p.R584C NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 625 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGCAATGGACCGCCCCCTCCA 0.527000 3 18 0 0 0.009096 0 0 IGKV1D-13 28902 broad.mit.edu 37 2 90193261 90193261 + RNA SNP G G T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr2:90193261G>T ENST00000390275.2 + 0 368 CAGAAACCAGGGAAAGCTCCT 0.532000 17 146 1.67942e-08 2.53559e-08 0.038395 1 0 RYR1 6261 broad.mit.edu 37 19 38976776 38976776 + Silent SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr19:38976776C>T ENST00000355481.4 + 34 5612 c.5481C>T c.(5479-5481)cgC>cgT p.R1827R RYR1_ENST00000359596.3_Silent_p.R1827R|RYR1_ENST00000360985.3_Silent_p.R1827R NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1827 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R1827R(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCACGCTCGCGACCCCGTCG 0.682000 24 154 0 0 0.069288 0 0 ZAK 51776 broad.mit.edu 37 2 174086116 174086116 + Missense_Mutation SNP A A C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr2:174086116A>C ENST00000338983.3 + 12 1421 c.1226A>C c.(1225-1227)aAt>aCt p.N409T MLTK_ENST00000539448.1_Missense_Mutation_p.N409T|MLTK_ENST00000375213.3_Intron|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Missense_Mutation_p.N308T|MLK7-AS1_ENST00000423106.2_RNA NM_133646.2 NP_598407.1 GCCAAGCAGAATTCTTCCAAA 0.453000 8 59 0 0 0.047766 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 3 18 0 0 0.004672 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714930 65714930 + RNA SNP G G A TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr11:65714930G>A ENST00000532620.1 + 0 865 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 ATCGGCGTCCGACAAGCAGGT 0.662000 5 31 0 0 0.021553 0 0 OR4C13 283092 broad.mit.edu 37 11 49974551 49974551 + Silent SNP C C T TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr11:49974551C>T ENST00000555099.1 + 1 609 c.577C>T c.(577-579)Cta>Tta p.L193L NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TACCCACACTCTAGGACTCTT 0.438000 16 98 0 0 0.024245 0 0 RP11-782C8.1 0 broad.mit.edu 37 1 143223212 143223214 + RNA DEL AAT AAT - TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr1:143223212_143223214delAAT ENST00000438000.1 + 0 147 GGATACCAACAATAACATTTATG 0.236 4 5 --- --- --- --- SEC22A 26984 broad.mit.edu 37 3 122990411 122990412 + Frame_Shift_Del DEL TC TC - TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr3:122990411_122990412delTC ENST00000309934.4 + 6 1662_1663 c.766_767delTC c.(766-768)tfs p.S256fs SEC22A_ENST00000492595.1_Frame_Shift_Del_p.S256fs|SEC22A_ENST00000481965.2_Frame_Shift_Del_p.NL97fs NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 256 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) GAATGTCAAATCTTTTTTGACT 0.371 9 72 --- --- --- --- ZNF746 155061 broad.mit.edu 37 7 149174059 149174059 + Frame_Shift_Del DEL T T - TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2747b2f-b56d-4aac-9f62-57dc5bfc7a55 e76af5cd-3b21-4a74-90f1-98d5f09b5496 g.chr7:149174059delT ENST00000340622.3 - 6 1072 c.792delA c.(790-792)gcfs p.A264fs ZNF746_ENST00000458143.2_Frame_Shift_Del_p.A264fs Q6NUN9 ZN746_HUMAN zinc finger protein 746 264 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGTCCGAGCATGCTGAAGAGG 0.612 16 115 --- --- --- ---