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 SIN3A 25942 broad.mit.edu 37 15 75688839 75688839 + Splice_Site SNP T T C TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr15:75688839T>C ENST00000394947.3 - 13 2169 c.e13-2 SIN3A_ENST00000394949.4_Splice_Site|SIN3A_ENST00000360439.4_Splice_Site NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TACATCAAGCTGAAGAGGAAG 0.413000 5 42 0 0 1 0 0 SLC1A2 6506 broad.mit.edu 37 11 35336644 35336644 + Missense_Mutation SNP G G C TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr11:35336644G>C ENST00000278379.3 - 3 518 c.236C>G c.(235-237)gCc>gGc p.A79G SLC1A2_ENST00000395753.1_Missense_Mutation_p.A70G|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A79G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A70G NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 79 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) CCCTGGGAAGGCTATTAACAT 0.478000 5 56 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16377498 16377498 + Silent SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr1:16377498G>A ENST00000375679.4 + 12 1293 c.1182G>A c.(1180-1182)ccG>ccA p.P394P CLCNKB_ENST00000375667.3_Silent_p.P225P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 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) GGTACCACCCGCGGTTCACCA 0.632000 10 49 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18248097 18248097 + Nonsense_Mutation SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr19:18248097G>A ENST00000262811.5 + 18 1934 c.1934G>A c.(1933-1935)tGg>tAg p.W645* NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 645 AGC-kinase C-terminal. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCCCTGGACTGGGCAGGGCTT 0.622000 6 61 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38357494 38357494 + Translation_Start_Site SNP G G A rs12583681 by1000genomes TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr13:38357494G>A ENST00000379705.3 - 0 834 TRPC4_ENST00000338947.5_De_novo_Start_OutOfFrame|TRPC4_ENST00000379673.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000379681.3_De_novo_Start_OutOfFrame|TRPC4_ENST00000358477.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000426868.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000447043.1_De_novo_Start_OutOfFrame|TRPC4_ENST00000355779.2_De_novo_Start_OutOfFrame Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTATTTCTTCGTCTCTGAAAG 0.343000 3 24 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50370414 50370414 + Silent SNP A A G TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr19:50370414A>G ENST00000322344.3 - 2 157 c.48T>C c.(46-48)ccT>ccC p.P16P PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 16 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding p.P16P(8) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GCGCTCCCCCAGGGGGGCTCT 0.721000 Other BER factors 9 25 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53825209 53825209 + Silent SNP C C T TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr12:53825209C>T ENST00000257863.4 + 11 1754 c.1674C>T c.(1672-1674)ggC>ggT p.G558G AMHR2_ENST00000550311.1_3'UTR|AMHR2_ENST00000379791.3_Silent_p.G463G NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 558 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) TTCAGCAAGGCCCTTGTTCCA 0.517000 11 95 0 0 1 0 0 RSG1 79363 broad.mit.edu 37 1 16559499 16559499 + Silent SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr1:16559499G>A ENST00000375599.3 - 3 698 c.279C>T c.(277-279)acC>acT p.T93T NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 93 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 AAAATACCACGGTGGTCTGGA 0.552000 11 71 0 0 1 0 0 POU1F1 5449 broad.mit.edu 37 3 87325590 87325590 + Missense_Mutation SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr3:87325590G>A ENST00000350375.2 - 1 147 c.23C>T c.(22-24)tCg>tTg p.S8L POU1F1_ENST00000560656.1_Missense_Mutation_p.S8L|POU1F1_ENST00000344265.3_Missense_Mutation_p.S8L NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 8 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) GGTATCAGCCGAAGTAAAAGC 0.458000 10 23 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37363363 37363363 + Missense_Mutation SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr3:37363363G>A ENST00000361924.2 + 13 2061 c.1687G>A c.(1687-1689)Gag>Aag p.E563K GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E585K NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 563 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCAAGAAGCAGAGACTTACAG 0.348000 5 32 0 0 1 0 0 PGF 5228 broad.mit.edu 37 14 75416122 75416122 + Missense_Mutation SNP C C T TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr14:75416122C>T ENST00000555567.1 - 3 794 c.253G>A c.(253-255)Ggc>Agc p.G85S PGF_ENST00000405431.2_Missense_Mutation_p.G85S|PGF_ENST00000553716.1_Missense_Mutation_p.G85S|PGF_ENST00000238607.6_Missense_Mutation_p.G84S NM_002632.5 NP_002623.2 P49763 PLGF_HUMAN placental growth factor 85 angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway extracellular region|membrane growth factor activity|heparin binding kidney(1)|large_intestine(3)|lung(3)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.00668) CCGCAGCAGCCGGTGCAGCGC 0.652000 9 63 0 0 1 0 0 JAM3 83700 broad.mit.edu 37 11 134018707 134018707 + Silent SNP C C T rs150992119 by1000genomes TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr11:134018707C>T ENST00000299106.4 + 8 1050 c.891C>T c.(889-891)gaC>gaT p.D297D JAM3_ENST00000441717.3_Silent_p.D246D|JAM3_ENST00000529443.2_Silent_p.D342D Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 297 angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TCCGCACTGACGAGGAGGTAA 0.463000 6 29 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39026681 39026681 + Missense_Mutation SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr19:39026681G>A ENST00000355481.4 + 81 11677 c.11546G>A c.(11545-11547)gGg>gAg p.G3849E RYR1_ENST00000359596.3_Missense_Mutation_p.G3854E|RYR1_ENST00000360985.3_Missense_Mutation_p.G3854E|AC067969.2_ENST00000595853.1_RNA NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3854 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) AAGGCCGAGGGGCTGGGCATG 0.577000 4 17 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105177182 105177182 + Missense_Mutation SNP C C G TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr7:105177182C>G ENST00000257700.2 + 3 490 c.259C>G c.(259-261)Cag>Gag p.Q87E NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 87 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AAGTAAAATGCAGTTAGAAGA 0.264000 4 21 0 0 1 0 0 IMPDH1 3614 broad.mit.edu 37 7 128040207 128040207 + Silent SNP C C T TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr7:128040207C>T ENST00000338791.6 - 9 1166 c.816G>A c.(814-816)gtG>gtA p.V272V IMPDH1_ENST00000470772.1_Silent_p.V186V|IMPDH1_ENST00000496200.1_Silent_p.V162V|IMPDH1_ENST00000480861.1_Silent_p.V182V|IMPDH1_ENST00000419067.2_Silent_p.V239V|IMPDH1_ENST00000378717.4_Silent_p.V203V|IMPDH1_ENST00000354269.5_Silent_p.V262V|IMPDH1_ENST00000343214.4_Silent_p.V162V|IMPDH1_ENST00000348127.6_Silent_p.V236V NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 187 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CTGCTGGAGCCACCACCAGTT 0.567000 21 129 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29124405 29124405 + RNA SNP C C T TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr16:29124405C>T ENST00000564580.1 + 0 1483 CAGATGAAGACGAACCTGCTT 0.358000 4 19 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105177177 105177177 + Missense_Mutation SNP A A C TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr7:105177177A>C ENST00000257700.2 + 3 485 c.254A>C c.(253-255)aAa>aCa p.K85T NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 85 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACAGTAAGTAAAATGCAGTTA 0.284000 4 24 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56645997 56645997 + Silent SNP A A G TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr12:56645997A>G ENST00000267116.7 - 14 1594 c.1473T>C c.(1471-1473)tcT>tcC p.S491S NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 491 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 AGTGGAGGGGAGAGCAGCCTT 0.577000 12 87 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 6 65 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 8 27 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112777090 112777090 + Missense_Mutation SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr2:112777090G>A ENST00000295408.4 + 16 2437 c.2180G>A c.(2179-2181)cGa>cAa p.R727Q MERTK_ENST00000421804.2_Missense_Mutation_p.R727Q|MERTK_ENST00000409780.1_Missense_Mutation_p.R551Q Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 727 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTAGCTGCTCGAAACTGCATG 0.458000 6 43 0 0 1 0 0 RP11-85K15.2 0 broad.mit.edu 37 14 35409214 35409214 + RNA SNP T T C rs1967723 by1000genomes TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr14:35409214T>C ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA CAACTTCTAATTCATCTCGCC 0.448000 4 40 0 0 1 0 0 CYP2B7P1 0 broad.mit.edu 37 19 41445086 41445086 + RNA SNP G G A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr19:41445086G>A ENST00000599198.1 + 0 699 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GAACATCCAGGACACACGAGA 0.537000 2 2 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105177178 105177178 + Missense_Mutation SNP A A T TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr7:105177178A>T ENST00000257700.2 + 3 486 c.255A>T c.(253-255)aaA>aaT p.K85N NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 85 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAGTAAGTAAAATGCAGTTAG 0.279000 4 22 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39814843 39814843 + Silent SNP G G A rs143506704 byFrequency TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr22:39814843G>A ENST00000216160.6 + 6 719 c.657G>A c.(655-657)tcG>tcA p.S219S TAB1_ENST00000331454.3_Silent_p.S219S NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 219 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 TCCGTCTTTCGCAGCTGGGTG 0.587000 5 60 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631839 90631839 + Missense_Mutation SNP T T A TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr15:90631839T>A ENST00000330062.3 - 4 627 c.514A>T c.(514-516)Agg>Tgg p.R172W IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172W(12)|p.R172G(2) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) TGGGCGTGCCTGCCAATGGTG 0.627000 M GBM 9 57 0 0 1 0 0 C16orf74 404550 broad.mit.edu 37 16 85743879 85743881 + In_Frame_Del DEL GCT GCT - TCGA-HT-7856-01A-11D-2395-08 TCGA-HT-7856-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe1d5590-b04f-4196-86f0-d3887c399996 36437e51-9b37-4436-919f-9a5e82f7cf8f g.chr16:85743879_85743881delGCT ENST00000602583.1 - 1 575_577 c.25_27delAGC c.(25-27)del p.S9del C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602914.1_Intron Q96GX8 CP074_HUMAN chromosome 16 open reading frame 74 21 CCTCGTCGTGGCTGCTGCTGCTG 0.635 2 4 --- --- --- ---