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 GOLGA3 2802 broad.mit.edu 37 12 133393134 133393134 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:133393134G>A ENST00000204726.3 - 3 956 c.398C>T c.(397-399)aCg>aTg p.T133M GOLGA3_ENST00000456883.2_Missense_Mutation_p.T133M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.T133M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.T133M|GOLGA3_ENST00000545875.1_Missense_Mutation_p.T133M NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 133 Interaction with GOPC. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) ACACAGTTGCGTTTCTTGCAT 0.542000 14 46 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180199676 180199676 + Silent SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:180199676T>C ENST00000263726.2 + 1 256 c.12T>C c.(10-12)agT>agC p.S4S NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 TGATGCAGAGTGCGACTGTCC 0.517000 4 14 0 0 1 0 0 DNTTIP1 116092 broad.mit.edu 37 20 44439738 44439738 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr20:44439738C>T ENST00000372622.3 + 13 962 c.894C>T c.(892-894)gtC>gtT p.V298V NM_052951.2 NP_443183.1 Q9H147 TDIF1_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 1 298 nucleus breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 Myeloproliferative disorder(115;0.0122) AATCCTTTGTCCTACCCTCCT 0.502000 15 77 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192278879 192278879 + Silent SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:192278879G>A ENST00000392318.3 + 28 3226 c.2979G>A c.(2977-2979)gtG>gtA p.V993V MYO1B_ENST00000392316.1_Silent_p.V964V|MYO1B_ENST00000339514.4_Silent_p.V935V|MYO1B_ENST00000439065.2_Silent_p.V238V|MYO1B_ENST00000304164.4_Silent_p.V993V NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 993 myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) CTGAAGTCGTGAACAAAATTA 0.393000 30 85 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 35 1 1 1 1 0 ASZ1 136991 broad.mit.edu 37 7 117067495 117067495 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:117067495C>T ENST00000284629.2 - 1 82 c.20G>A c.(19-21)cGa>cAa p.R7Q NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 7 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity p.R7Q(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) TGGCAGGCCTCGCAGCGCGCT 0.697000 OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 18 49 0 0 1 0 0 SLC26A9 115019 broad.mit.edu 37 1 205886433 205886433 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:205886433C>T ENST00000367135.3 - 20 2419 c.2306G>A c.(2305-2307)cGc>cAc p.R769H SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769H|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769H NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 769 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CCAGTAGCTGCGAATGTCCTC 0.577000 57 153 0 0 1 0 0 MAPK12 6300 broad.mit.edu 37 22 50694559 50694559 + Missense_Mutation SNP G G A rs147362308 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr22:50694559G>A ENST00000215659.8 - 7 889 c.574C>T c.(574-576)Cgg>Tgg p.R192W MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.R102W NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 192 Protein kinase. cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCGGGAGCCCGGTACCACCGG 0.602000 13 43 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688664 60688664 + Silent SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:60688664G>A ENST00000335712.6 - 4 1610 c.1383C>T c.(1381-1383)agC>agT p.S461S BCL11A_ENST00000538214.1_Silent_p.S427S|BCL11A_ENST00000356842.4_Silent_p.S461S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.S427S|BCL11A_ENST00000537768.1_Silent_p.S130S|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 461 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACTTGAGCGCGCTGCTGGCGC 0.647000 T IGH@ B-CLL 6 22 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5948132 5948132 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr20:5948132G>A ENST00000378896.3 + 9 1303 c.926G>A c.(925-927)cGa>cAa p.R309Q MCM8_ENST00000378883.1_Missense_Mutation_p.R309Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R309Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R309Q NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 309 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CGGATTCCACGAACAATAGAA 0.393000 21 56 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130412550 130412550 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chrX:130412550C>T ENST00000370904.1 - 18 2809 c.1899G>A c.(1897-1899)cgG>cgA p.R633R IGSF1_ENST00000361420.3_Silent_p.R642R|IGSF1_ENST00000370910.1_Silent_p.R633R|IGSF1_ENST00000370903.3_Silent_p.R647R Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 642 Ig-like C2-type 6. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGAAGGCAGCCCGGACCTGCT 0.632000 25 30 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 83635703 83635703 + Missense_Mutation SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr10:83635703A>T ENST00000404547.1 + 1 607 c.607A>T c.(607-609)Agc>Tgc p.S203C NRG3_ENST00000372141.2_Missense_Mutation_p.S203C P56975 NRG3_HUMAN neuregulin 3 203 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GTTCTTCAGTAGCAGCACGCT 0.692000 9 22 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2721074 2721074 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:2721074C>T ENST00000399655.1 + 29 3988 c.3723C>T c.(3721-3723)taC>taT p.Y1241Y CACNA1C_ENST00000399641.1_Silent_p.Y1241Y|CACNA1C_ENST00000399606.1_Silent_p.Y1261Y|CACNA1C_ENST00000347598.4_Silent_p.Y1261Y|CACNA1C_ENST00000344100.3_Silent_p.Y1241Y|CACNA1C_ENST00000327702.7_Silent_p.Y1241Y|CACNA1C_ENST00000480911.1_Silent_p.Y1241Y|CACNA1C_ENST00000399649.1_Silent_p.Y1241Y|CACNA1C_ENST00000399591.1_Silent_p.Y1241Y|CACNA1C_ENST00000399637.1_Silent_p.Y1241Y|CACNA1C_ENST00000399621.1_Silent_p.Y1241Y|CACNA1C_ENST00000399595.1_Silent_p.Y1241Y|CACNA1C_ENST00000399634.1_Silent_p.Y1241Y|CACNA1C_ENST00000399597.1_Silent_p.Y1241Y|CACNA1C_ENST00000399629.1_Silent_p.Y1241Y|CACNA1C_ENST00000399638.1_Silent_p.Y1241Y|CACNA1C_ENST00000399644.1_Silent_p.Y1241Y|CACNA1C_ENST00000399617.1_Silent_p.Y1241Y|CACNA1C_ENST00000399601.1_Silent_p.Y1241Y|CACNA1C_ENST00000406454.3_Silent_p.Y1241Y|CACNA1C_ENST00000335762.5_Silent_p.Y1266Y|CACNA1C_ENST00000402845.3_Silent_p.Y1241Y|CACNA1C_ENST00000399603.1_Silent_p.Y1241Y NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1261 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCAGCACTACGGCCAGAGCT 0.577000 9 15 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452634 64452634 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:64452634G>C ENST00000394323.2 - 2 1271 c.771C>G c.(769-771)ttC>ttG p.F257L NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 257 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 catgctcatagaatgactcaa 0.473000 12 40 0 0 1 0 0 CHDC2 286464 broad.mit.edu 37 X 36091266 36091266 + Silent SNP A A C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chrX:36091266A>C ENST00000378660.1 + 4 389 c.201A>C c.(199-201)gtA>gtC p.V67V CHDC2_ENST00000313548.4_Silent_p.V67V calponin homology domain containing 2 GAGTGGAAGTACTGCCTGAAA 0.348000 6 12 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214816112 214816112 + Silent SNP A A G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:214816112A>G ENST00000366955.3 + 12 4599 c.4431A>G c.(4429-4431)tcA>tcG p.S1477S NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1573 2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CATCCCTGTCATCCTCTTGTG 0.473000 19 41 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13600626 13600626 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:13600626G>T ENST00000040738.5 - 10 8033 c.7898C>A c.(7897-7899)cCt>cAt p.P2633H NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2633 DNA binding TCCTTCCTCAGGGAATGATTT 0.373000 5 75 0.184627 0.186048 1 1 0 DZIP1L 199221 broad.mit.edu 37 3 137822609 137822609 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr3:137822609G>A ENST00000327532.2 - 2 567 c.205C>T c.(205-207)Cgg>Tgg p.R69W DZIP1L_ENST00000469243.1_Missense_Mutation_p.R69W NM_173543.2 NP_775814.2 Q8IYY4 DZI1L_HUMAN DAZ interacting zinc finger protein 1-like 69 intracellular zinc ion binding p.R69W(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 CACACCTCCCGGTCCAAGTTG 0.617000 9 55 0 0 1 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927176 92927176 + Silent SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chrX:92927176T>A ENST00000373079.3 - 1 1391 c.1128A>T c.(1126-1128)acA>acT p.T376T NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 376 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 TTATTATATATGTCTTCACCA 0.408000 8 14 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216373122 216373122 + Missense_Mutation SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:216373122C>A ENST00000366943.2 - 17 4044 c.3658G>T c.(3658-3660)Gta>Tta p.V1220L USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1220L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1220 Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CACGCCTGTACAGAAAAATCG 0.517000 HNSCC(13;0.011) 13 62 0.00010058 0.000106258 1 1 0 ZNF235 9310 broad.mit.edu 37 19 44792818 44792818 + Missense_Mutation SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr19:44792818T>C ENST00000291182.4 - 5 872 c.770A>G c.(769-771)cAc>cGc p.H257R ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CTGTCCTGTGTGAATACTACG 0.388000 12 53 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77914882 77914882 + Missense_Mutation SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr14:77914882A>T ENST00000553888.1 - 7 969 c.459T>A c.(457-459)aaT>aaA p.N153K VIPAS39_ENST00000557658.1_Missense_Mutation_p.N153K|VIPAS39_ENST00000556412.1_Missense_Mutation_p.N179K|VIPAS39_ENST00000448935.2_Missense_Mutation_p.N104K|VIPAS39_ENST00000343765.2_Missense_Mutation_p.N153K|VIPAS39_ENST00000327028.4_Missense_Mutation_p.N140K NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog GGCTCCAGTCATTGCTGTAAT 0.463000 41 34 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10970031 10970031 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr21:10970031C>T ENST00000298232.7 - 6 464 c.97G>A c.(97-99)Gag>Aag p.E33K TPTE_ENST00000361285.4_Missense_Mutation_p.E33K|TPTE_ENST00000342420.5_Missense_Mutation_p.E33K|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 33 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGTGCCTCCTCGGTTGCTCCT 0.393000 6 115 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104171678 104171678 + Missense_Mutation SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr9:104171678A>T ENST00000374861.3 + 3 1870 c.1586A>T c.(1585-1587)gAt>gTt p.D529V ZNF189_ENST00000339664.2_Missense_Mutation_p.D543V|ZNF189_ENST00000259395.4_Missense_Mutation_p.D501V NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 543 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CATAAATGTGATGAATGTGGA 0.423000 13 55 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685295 248685295 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:248685295C>T ENST00000343414.4 + 1 380 c.348C>T c.(346-348)gcC>gcT p.A116A NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCTCTTGGCCGTCATGGCTT 0.557000 4 75 0 0 1 0 0 GDF6 392255 broad.mit.edu 37 8 97157145 97157145 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr8:97157145G>T ENST00000287020.5 - 2 1113 c.1014C>A c.(1012-1014)ttC>ttA p.F338L NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 338 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) GGCGACTGGCGAAGGCCGTgc 0.746000 9 17 2.17888e-05 2.33961e-05 1 1 0 KIAA0947 23379 broad.mit.edu 37 5 5464410 5464410 + Missense_Mutation SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr5:5464410T>C ENST00000296564.7 + 13 5185 c.4963T>C c.(4963-4965)Tcg>Ccg p.S1655P NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1655 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TCCACTGATATCGAGTTCTAG 0.567000 36 140 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4091409 4091409 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:4091409C>T ENST00000404826.2 + 19 2997 c.2858C>T c.(2857-2859)aCc>aTc p.T953I SDK1_ENST00000389531.3_Missense_Mutation_p.T953I NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 953 Fibronectin type-III 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGCTTCACCACCCCTGGGGAC 0.527000 26 80 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14819319 14819319 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr9:14819319G>C ENST00000380881.4 - 15 3277 c.2462C>G c.(2461-2463)cCt>cGt p.P821R FREM1_ENST00000422223.2_Missense_Mutation_p.P820R|FREM1_ENST00000380880.3_Missense_Mutation_p.P820R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 820 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCCGTGCAGAGGCAATTCCCG 0.468000 9 16 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186272622 186272622 + Silent SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:186272622G>C ENST00000504273.1 + 14 2127 c.1833G>C c.(1831-1833)ctG>ctC p.L611L SNX25_ENST00000264694.8_Silent_p.L611L|SNX25_ENST00000512853.1_Intron Q9H3E2 SNX25_HUMAN sorting nexin 25 611 PX. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) ATGAAAGACTGTGTCAGAGTG 0.438000 13 45 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126883110 126883110 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:126883110C>T ENST00000339582.2 - 2 957 c.149G>A c.(148-150)gGt>gAt p.G50D GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000358373.3_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 50 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGGGAAGAGACCCCCCAAAAT 0.517000 HNSCC(24;0.065) 9 70 0 0 1 0 0 PPP1R8 5511 broad.mit.edu 37 1 28176681 28176681 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:28176681C>T ENST00000373931.4 + 7 1149 c.354C>T c.(352-354)agC>agT p.S118S PPP1R8_ENST00000311772.5_Silent_p.S260S|PPP1R8_ENST00000236412.7_Silent_p.S36S|PPP1R8_ENST00000486634.1_3'UTR NM_138558.2 NP_612568.1 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 260 Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) TTGCCTTCAGCGGAGGACTCT 0.622000 47 195 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8110672 8110672 + Missense_Mutation SNP A A G rs148958007 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:8110672A>G ENST00000223145.5 + 6 1645 c.1088A>G c.(1087-1089)cAt>cGt p.H363R NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 363 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TGCAGCAGTCATTCACCCTGT 0.517000 23 92 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22012543 22012543 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:22012543G>C ENST00000261200.4 - 20 2481 c.2482C>G c.(2482-2484)Caa>Gaa p.Q828E ABCC9_ENST00000345162.2_Missense_Mutation_p.Q792E|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q828E|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 828 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.Q828*(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGGTGTTTTGATACAGCGCT 0.408000 30 90 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196750966 196750966 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:196750966C>T ENST00000312428.6 - 34 5537 c.5437G>A c.(5437-5439)Gtc>Atc p.V1813I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1813 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAGGACCGGACCAAGTTTGTA 0.333000 5 38 0 0 1 0 0 TRAV5 28688 broad.mit.edu 37 14 22217750 22217750 + RNA SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr14:22217750G>A ENST00000390427.3 + 0 113 CTGAGTGTCCGAGAGGGAGAC 0.483000 9 23 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026642 182026642 + Silent SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:182026642G>T ENST00000339948.3 - 2 711 c.504C>A c.(502-504)ccC>ccA p.P168P NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 TTCCATTGCTGGGGAAGCTGG 0.567000 7 29 0.000157383 0.000163629 1 1 0 ZNFX1 57169 broad.mit.edu 37 20 47886636 47886636 + Silent SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr20:47886636T>A ENST00000396105.1 - 3 1959 c.1713A>T c.(1711-1713)ctA>ctT p.L571L ZNFX1_ENST00000371754.4_Silent_p.L571L|ZNFX1_ENST00000371752.1_Silent_p.L571L NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 571 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGACATTTCTTAGAAATTCCC 0.478000 26 94 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76756969 76756969 + Missense_Mutation SNP C C G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr18:76756969C>G ENST00000536229.3 + 3 3644 c.2935C>G c.(2935-2937)Ctc>Gtc p.L979V SALL3_ENST00000575389.2_Missense_Mutation_p.L1112V|SALL3_ENST00000537592.2_Missense_Mutation_p.L1184V Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCCATGGCTCTCCTAGGGGG 0.602000 13 26 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91763765 91763765 + Missense_Mutation SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr14:91763765T>C ENST00000389857.6 - 22 3936 c.3850A>G c.(3850-3852)Acc>Gcc p.T1284A NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1284 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TTCAGTGAGGTTTTCAGCTCC 0.597000 17 8 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66476402 66476402 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr11:66476402C>T ENST00000533211.1 - 11 1493 c.1162G>A c.(1162-1164)Gag>Aag p.E388K SPTBN2_ENST00000309996.2_Missense_Mutation_p.E388K|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E388K O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 388 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 AGCCGGCCCTCGCGGGGCGTG 0.617000 18 49 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35966480 35966480 + Silent SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chrX:35966480A>T ENST00000297866.5 + 4 633 c.567A>T c.(565-567)ccA>ccT p.P189P NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 189 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCATTTTTCCAACTAGTGGTA 0.393000 30 25 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118313298 118313298 + Silent SNP C C T rs150321250 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr10:118313298C>T ENST00000369221.2 + 6 547 c.519C>T c.(517-519)caC>caT p.H173H NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 173 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGGGTGCCCACGCTGCTGGGG 0.522000 11 30 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95186135 95186135 + Missense_Mutation SNP T T G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr8:95186135T>G ENST00000027335.3 - 7 797 c.673A>C c.(673-675)Agt>Cgt p.S225R CDH17_ENST00000450165.2_Missense_Mutation_p.S225R|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 225 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTGGTATCACTGAAGGAATTC 0.438000 19 84 0 0 1 0 0 IGHV7-81 28378 broad.mit.edu 37 14 107283086 107283086 + RNA SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr14:107283086G>T ENST00000390639.2 - 0 110 GCTGCACCTGGGAGTAGGTAC 0.582000 21 105 6.44725e-10 7.28095e-10 1 1 0 SLC28A1 9154 broad.mit.edu 37 15 85486699 85486699 + Silent SNP G G A rs147715805 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr15:85486699G>A ENST00000394573.1 + 16 1807 c.1605G>A c.(1603-1605)acG>acA p.T535T SLC28A1_ENST00000537624.1_Silent_p.T535T|SLC28A1_ENST00000538177.1_Silent_p.T369T|SLC28A1_ENST00000286749.3_Silent_p.T535T|SLC28A1_ENST00000537216.1_Intron NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 535 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCCTCACGACGTTTGCCCTCT 0.552000 13 28 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94331061 94331061 + Missense_Mutation SNP A A C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr11:94331061A>C ENST00000299001.6 + 11 1571 c.1360A>C c.(1360-1362)Ata>Cta p.I454L RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 454 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTCAGAAAAAATATTAATGCA 0.388000 11 24 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540460 187540460 + Missense_Mutation SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:187540460T>C ENST00000441802.2 - 10 7489 c.7280A>G c.(7279-7281)tAt>tGt p.Y2427C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2427 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGAATGGAATACTGCAACTT 0.458000 HNSCC(5;0.00058) 14 34 0 0 1 0 0 ARF6 382 broad.mit.edu 37 14 50360513 50360513 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr14:50360513G>T ENST00000298316.5 + 2 606 c.59G>T c.(58-60)gGc>gTc p.G20V NM_001663.3 NP_001654.1 P62330 ARF6_HUMAN ADP-ribosylation factor 6 20 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 all_epithelial(31;0.000822)|Breast(41;0.0117) CTCATGTTGGGCCTGGACGCG 0.597000 21 83 1.10513e-12 1.29261e-12 1 1 0 GALNT1 2589 broad.mit.edu 37 18 33243770 33243770 + Silent SNP A A G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr18:33243770A>G ENST00000591081.1 + 2 409 c.318A>G c.(316-318)taA>taG p.*106* GALNT1_ENST00000537549.1_Intron|GALNT1_ENST00000269195.5_Intron Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 0 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 TAGAAGGGTAAGTACTTACTG 0.323000 31 42 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158704239 158704239 + Splice_Site SNP A A G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:158704239A>G ENST00000407559.3 + 12 1618 c.e12-1 NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TTTATTTCAAAGGATGCGAAG 0.333000 4 20 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158057730 158057730 + Missense_Mutation SNP A A C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:158057730A>C ENST00000264428.4 + 5 677 c.407A>C c.(406-408)aAg>aCg p.K136T GLRB_ENST00000541722.1_Missense_Mutation_p.K136T|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.K136T NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 136 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) ACAATGTACAAGTGTTTATGG 0.398000 22 62 0 0 1 0 0 FMO4 2329 broad.mit.edu 37 1 171303840 171303840 + Missense_Mutation SNP T T G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:171303840T>G ENST00000367749.3 + 8 1448 c.1118T>G c.(1117-1119)cTt>cGt p.L373R NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 373 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTTATCGGCCTTAAAGGATCC 0.438000 15 57 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70155439 70155439 + Silent SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:70155439G>T ENST00000335568.5 + 4 1061 c.1059G>T c.(1057-1059)ctG>ctT p.L353L UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 353 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) ATACTCGGCTGTATAAGTGGA 0.373000 18 77 1.02788e-11 1.18116e-11 1 1 0 TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T T C rs148924904 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr17:7578442T>C ENST00000420246.2 - 5 620 c.488A>G c.(487-489)tAc>tGc p.Y163C TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGACTGCTTGTAGATGGCCAT 0.622000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 29 23 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18220055 18220055 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chrX:18220055G>A ENST00000380033.4 - 6 1045 c.913C>T c.(913-915)Cca>Tca p.P305S BEND2_ENST00000380030.3_Intron NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 305 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 GGTCTTTCTGGCATTTCTGTA 0.343000 9 16 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2717711 2717711 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:2717711G>T ENST00000399655.1 + 27 3656 c.3391G>T c.(3391-3393)Gac>Tac p.D1131Y CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D1151Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1156Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1131Y|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1131Y NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1151 Dihydropyridine binding (By similarity). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCACACGGAAGACAAGGGCCC 0.552000 5 10 5.9392e-07 6.43004e-07 1 1 0 SLC6A2 6530 broad.mit.edu 37 16 55729260 55729260 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr16:55729260C>T ENST00000379906.2 + 7 1348 c.1093C>T c.(1093-1095)Ctt>Ttt p.L365F SLC6A2_ENST00000566163.1_Missense_Mutation_p.L320F|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000414754.3_Missense_Mutation_p.L365F|SLC6A2_ENST00000219833.8_Missense_Mutation_p.L365F|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L365F|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L260F NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 365 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CTTCTCCATCCTTGGTTACAT 0.587000 12 56 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158648221 158648221 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:158648221G>C ENST00000368148.3 - 6 962 c.782C>G c.(781-783)tCc>tGc p.S261C SPTA1_ENST00000368147.3_Missense_Mutation_p.S261C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 261 S -> P (in EL2). 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) TGCAGCATTGGACAGAGCTTT 0.438000 9 57 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30051658 30051658 + Nonsense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr22:30051658C>T ENST00000338641.4 + 6 1033 c.592C>T c.(592-594)Cga>Tga p.R198* NF2_ENST00000397789.3_Nonsense_Mutation_p.R198*|NF2_ENST00000361452.4_Nonsense_Mutation_p.R157*|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Nonsense_Mutation_p.R198*|NF2_ENST00000353887.4_Nonsense_Mutation_p.R115*|NF2_ENST00000361676.4_Nonsense_Mutation_p.R156*|NF2_ENST00000403999.3_Nonsense_Mutation_p.R198*|NF2_ENST00000361166.4_Nonsense_Mutation_p.R198*|NF2_ENST00000334961.7_Nonsense_Mutation_p.R115* NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 198 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.R198*(3)|p.R198fs*4(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GCACCGAGGCCGAGCCAGGTG 0.398000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 16 23 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56490841 56490841 + Missense_Mutation SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:56490841A>T ENST00000267101.3 + 20 2727 c.2287A>T c.(2287-2289)Att>Ttt p.I763F ERBB3_ENST00000553131.1_Missense_Mutation_p.I4F|ERBB3_ENST00000450146.2_Missense_Mutation_p.I120F|ERBB3_ENST00000415288.2_Missense_Mutation_p.I704F NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 763 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TATGCTGGCCATTGGCAGCCT 0.537000 13 50 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2969673 2969673 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:2969673G>A ENST00000396946.4 - 12 2009 c.1606C>T c.(1606-1608)Cct>Tct p.P536S NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 536 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CAGGAGCTAGGGCTGGCGTCC 0.627000 Mis DLBCL 12 44 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109770680 109770680 + Missense_Mutation SNP C C A rs143598372 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr6:109770680C>A ENST00000368952.4 - 11 1786 c.1496G>T c.(1495-1497)cGa>cTa p.R499L MICAL1_ENST00000358577.3_Missense_Mutation_p.R394L|MICAL1_ENST00000358807.3_Missense_Mutation_p.R480L Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 480 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) ATACAGGTCTCGTACCTAAGG 0.617000 15 67 6.31663e-08 6.9536e-08 1 1 0 KIAA0556 23247 broad.mit.edu 37 16 27751397 27751397 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr16:27751397C>T ENST00000261588.4 + 15 1798 c.1779C>T c.(1777-1779)taC>taT p.Y593Y NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 593 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TGAAGCTTTACGTCAACAGAA 0.438000 15 74 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67337093 67337093 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr16:67337093G>A ENST00000304372.5 - 4 654 c.599C>T c.(598-600)aCg>aTg p.T200M KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 200 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T200M(1) endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GAGGGCCACCGTCTCAGCCAG 0.612000 9 20 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1821533 1821533 + Silent SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr19:1821533G>A ENST00000170168.4 - 5 2473 c.2379C>T c.(2377-2379)caC>caT p.H793H NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 793 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGATGGACTGTGGGCGATTC 0.647000 24 91 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102296366 102296366 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:102296366C>T ENST00000370103.4 - 3 447 c.234G>A c.(232-234)caG>caA p.Q78Q OLFM3_ENST00000338858.5_Silent_p.Q98Q|OLFM3_ENST00000359814.3_Silent_p.Q98Q|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Silent_p.Q3Q NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 98 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CTTCAATAGACTGGGACATGT 0.353000 9 46 0 0 1 0 0 CHAD 1101 broad.mit.edu 37 17 48545748 48545748 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr17:48545748G>A ENST00000508540.1 - 1 579 c.427C>T c.(427-429)Ctc>Ttc p.L143F ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.L143F|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 143 regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AGCGGGGAGAGCAACCCCCGG 0.632000 17 54 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 36 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618518 77618518 + Missense_Mutation SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr8:77618518A>T ENST00000521891.2 + 2 2643 c.2195A>T c.(2194-2196)aAt>aTt p.N732I ZFHX4_ENST00000050961.6_Missense_Mutation_p.N732I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N732I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N732I|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 732 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATCTCCAAAATGGCAATGGT 0.517000 HNSCC(33;0.089) 16 28 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188289 70188289 + Missense_Mutation SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:70188289C>A ENST00000320256.4 - 1 1108 c.532G>T c.(532-534)Gcc>Tcc p.A178S NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 178 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 TGGCTGGGGGCAGCCCCAGGG 0.587000 19 40 1.33834e-09 1.48578e-09 1 1 0 DCUN1D3 123879 broad.mit.edu 37 16 20871437 20871437 + Missense_Mutation SNP G G A rs149680095 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr16:20871437G>A ENST00000324344.3 - 3 971 c.686C>T c.(685-687)aCa>aTa p.T229I DCUN1D3_ENST00000563934.1_Missense_Mutation_p.T229I|ERI2_ENST00000564349.1_Intron NM_173475.2 NP_775746.1 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain containing 3 229 DCUN1. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2) 14 GBM - Glioblastoma multiforme(48;0.249) GGGGTTCTCTGTTAGGAAGTT 0.517000 29 104 0 0 1 0 0 HNRNPR 10236 broad.mit.edu 37 1 23637080 23637080 + Missense_Mutation SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:23637080T>A ENST00000478691.1 - 10 1746 c.1475A>T c.(1474-1476)aAc>aTc p.N492I HNRNPR_ENST00000302271.6_Missense_Mutation_p.N590I|HNRNPR_ENST00000426846.2_Missense_Mutation_p.N430I|HNRNPR_ENST00000606561.1_Missense_Mutation_p.N451I|HNRNPR_ENST00000374612.1_Missense_Mutation_p.N590I|HNRNPR_ENST00000427764.2_Missense_Mutation_p.N552I|HNRNPR_ENST00000374616.3_Missense_Mutation_p.N593I|HNRNPR_ENST00000476660.1_5'UTR NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 590 3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GTTCTGTTGGTTGTTGGTCTG 0.522000 52 137 0 0 1 0 0 KIF25 3834 broad.mit.edu 37 6 168440845 168440845 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr6:168440845C>T ENST00000443060.2 + 7 986 c.595C>T c.(595-597)Cac>Tac p.H199Y KIF25_ENST00000351261.3_Missense_Mutation_p.H199Y|KIF25_ENST00000354419.2_Missense_Mutation_p.H199Y Q9UIL4 KIF25_HUMAN kinesin family member 25 199 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CTCCAGGTCTCACCTGATAAT 0.557000 15 29 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104717552 104717552 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:104717552C>T ENST00000334877.4 + 10 1445 c.911C>T c.(910-912)gCt>gTt p.A304V KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.A304V|KMT2E_ENST00000311117.3_Missense_Mutation_p.A304V|KMT2E_ENST00000257745.4_Missense_Mutation_p.A304V lysine (K)-specific methyltransferase 2E CAAAGAATAGCTCTGAGATTA 0.388000 6 29 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764191 82764191 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:82764191G>C ENST00000423517.2 - 3 3012 c.2675C>G c.(2674-2676)cCt>cGt p.P892R PCLO_ENST00000333891.8_Missense_Mutation_p.P892R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 838 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGACTGTTGAGGTGTGGGGAC 0.532000 39 182 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57573659 57573659 + Silent SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:57573659C>A ENST00000243077.3 + 30 5527 c.5061C>A c.(5059-5061)gcC>gcA p.A1687A NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1687 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCAATGTGGCCCGGCTGGATG 0.612000 25 84 1.5548e-18 1.83494e-18 1 1 0 CPT1A 1374 broad.mit.edu 37 11 68552417 68552417 + Silent SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr11:68552417G>A ENST00000265641.5 - 10 1183 c.1029C>T c.(1027-1029)ttC>ttT p.F343F CPT1A_ENST00000376618.2_Silent_p.F343F|CPT1A_ENST00000539743.1_Silent_p.F343F|CPT1A_ENST00000540367.1_Silent_p.F343F NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 343 F -> V (in CPT1AD). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GCCAGACCTTGAAGTAGCGTC 0.592000 14 358 0 0 1 0 0 CERS2 29956 broad.mit.edu 37 1 150939941 150939941 + Missense_Mutation SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:150939941T>C ENST00000271688.6 - 7 925 c.539A>G c.(538-540)tAt>tGt p.Y180C CERS2_ENST00000368954.5_Missense_Mutation_p.Y180C|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.Y171C NM_181746.3 NP_859530.1 Q96G23 CERS2_HUMAN ceramide synthase 2 180 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GTAGTACCAATACTGGGAAGG 0.527000 15 46 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114308737 114308737 + Silent SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:114308737T>A ENST00000261441.5 - 7 2337 c.2274A>T c.(2272-2274)tcA>tcT p.S758S NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 758 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGGAAAGATGATGAAGCAG 0.418000 29 82 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852977 15852977 + Missense_Mutation SNP C C G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr19:15852977C>G ENST00000305892.1 + 1 775 c.775C>G c.(775-777)Ctt>Gtt p.L259V NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TTTTGCCTCCCTTATCTACCT 0.502000 26 94 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1808391 1808391 + Missense_Mutation SNP G G A rs17882190 byFrequency TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:1808391G>A ENST00000340107.4 + 16 2411 c.2155G>A c.(2155-2157)Gcc>Acc p.A719T FGFR3_ENST00000440486.2_Missense_Mutation_p.A717T|FGFR3_ENST00000352904.1_Missense_Mutation_p.A605T|FGFR3_ENST00000412135.2_Missense_Mutation_p.A605T|FGFR3_ENST00000260795.2_Missense_Mutation_p.A717T|FGFR3_ENST00000481110.2_Missense_Mutation_p.R694H NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 717 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGACAAGCCCGCCAACTGCAC 0.692000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 3 32 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126746673 126746673 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:126746673G>C ENST00000339582.2 - 3 1412 c.604C>G c.(604-606)Caa>Gaa p.Q202E GRM8_ENST00000405249.1_Missense_Mutation_p.Q202E|GRM8_ENST00000358373.3_Missense_Mutation_p.Q202E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.Q202E O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 202 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCTTGGGCTTGGTAGGAGTCA 0.512000 HNSCC(24;0.065) 11 37 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186063420 186063420 + Silent SNP T T C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:186063420T>C ENST00000271588.4 + 67 10438 c.10209T>C c.(10207-10209)gcT>gcC p.A3403A HMCN1_ENST00000367492.2_Silent_p.A3403A NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3403 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTGTGAGAGCTCAGGTGTCTG 0.388000 9 39 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66088607 66088607 + Nonsense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:66088607G>A ENST00000349533.6 + 19 2801 c.2616G>A c.(2614-2616)tgG>tgA p.W872* LEPR_ENST00000371060.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.W872*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.W872*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.W872*|LEPR_ENST00000406510.3_Intron NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 872 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGCTATTTTGGGAAGATGTTC 0.348000 9 21 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66394099 66394099 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr11:66394099G>A ENST00000310137.4 + 3 2109 c.1970G>A c.(1969-1971)cGg>cAg p.R657Q RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000393979.3_3'UTR|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 657 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 GATTACCTGCGGGCGGCTCAG 0.607000 10 9 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1056448 1056448 + Silent SNP A A T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr10:1056448A>T ENST00000360803.4 + 13 1414 c.1332A>T c.(1330-1332)ccA>ccT p.P444P GTPBP4_ENST00000545048.1_Silent_p.P397P|GTPBP4_ENST00000538293.1_Silent_p.P328P|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 444 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) ATATTGATCCAGCCATCATGA 0.353000 7 53 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65274925 65274925 + Missense_Mutation SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:65274925T>A ENST00000381210.3 - 1 255 c.145A>T c.(145-147)Act>Tct p.T49S TECRL_ENST00000507440.1_Missense_Mutation_p.T49S NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 49 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 ACTGCTGGAGTTGGTCTTAGA 0.368000 17 29 0 0 1 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065047 62065047 + Missense_Mutation SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr11:62065047C>A ENST00000358585.1 - 2 192 c.139G>T c.(139-141)Gcc>Tcc p.A47S NM_206998.1 NP_996881.1 Q6XE38 SG1D4_HUMAN secretoglobin, family 1D, member 4 47 extracellular region binding lung(1)|prostate(1) 2 TTAAGTTTGGCAACTTGGAGG 0.448000 48 119 1.48734e-19 1.77128e-19 1 1 0 BTBD3 22903 broad.mit.edu 37 20 11899106 11899106 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr20:11899106G>T ENST00000405977.1 + 2 808 c.183G>T c.(181-183)aaG>aaT p.K61N BTBD3_ENST00000378226.2_Missense_Mutation_p.K61N|BTBD3_ENST00000399006.2_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_5'UTR Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 61 p.K61K(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AAAAGAAGAAGATGGCTGCTG 0.448000 18 139 2.35188e-11 2.6791e-11 1 1 0 ZNF540 163255 broad.mit.edu 37 19 38104133 38104133 + Missense_Mutation SNP A A G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr19:38104133A>G ENST00000592533.1 + 5 2284 c.1952A>G c.(1951-1953)tAt>tGt p.Y651C ZNF540_ENST00000316433.4_Missense_Mutation_p.Y651C|ZNF540_ENST00000343599.5_Missense_Mutation_p.Y651C|ZNF540_ENST00000589117.1_Missense_Mutation_p.Y619C NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACATCTTTATCAACATCAG 0.318000 6 30 0 0 1 0 0 RNF130 55819 broad.mit.edu 37 5 179405210 179405210 + Missense_Mutation SNP G G C TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr5:179405210G>C ENST00000522208.2 - 5 859 c.841C>G c.(841-843)Ccc>Gcc p.P281A RNF130_ENST00000521389.1_Missense_Mutation_p.P281A|RNF130_ENST00000261947.4_Missense_Mutation_p.P281A Q86XS8 GOLI_HUMAN ring finger protein 130 281 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACTTGCAGGGGAGAATTCGG 0.413000 13 53 0 0 1 0 0 GLDN 342035 broad.mit.edu 37 15 51687166 51687166 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr15:51687166G>A ENST00000335449.6 + 5 732 c.676G>A c.(676-678)Gtg>Atg p.V226M GLDN_ENST00000396399.2_Missense_Mutation_p.V102M NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 226 cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GTCCAACGACGTGCTCCTGGC 0.587000 6 15 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9792851 9792851 + Silent SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr3:9792851C>T ENST00000302036.7 + 2 703 c.360C>T c.(358-360)ttC>ttT p.F120F OGG1_ENST00000349503.5_Silent_p.F120F|OGG1_ENST00000339511.5_Silent_p.F120F|OGG1_ENST00000302003.7_Silent_p.F120F|OGG1_ENST00000383826.5_Silent_p.F120F|OGG1_ENST00000449570.2_Silent_p.F120F|OGG1_ENST00000344629.7_Silent_p.F120F|OGG1_ENST00000302008.8_Silent_p.F120F NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 120 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) ACTCCCACTTCCAAGAGGTGG 0.547000 Base excision repair (BER), DNA glycosylases 15 14 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44878014 44878014 + Missense_Mutation SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr15:44878014C>A ENST00000261866.7 - 29 4957 c.4941G>T c.(4939-4941)caG>caT p.Q1647H SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1647 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CCTTCAAAATCTGGCAAAGGA 0.358000 26 69 1.17739e-12 1.36494e-12 1 1 0 NEU2 4759 broad.mit.edu 37 2 233898940 233898940 + Missense_Mutation SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:233898940C>A ENST00000233840.3 + 2 316 c.316C>A c.(316-318)Cct>Act p.P106T NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 106 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CATTGCCATCCCTGGGCAAGT 0.647000 20 50 0.000132079 0.000138419 1 1 0 CABS1 85438 broad.mit.edu 37 4 71201289 71201289 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr4:71201289C>T ENST00000273936.4 + 1 592 c.533C>T c.(532-534)gCc>gTc p.A178V NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 178 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GACGCTCCTGCCTTTCCACGT 0.468000 9 33 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084510 17084510 + RNA SNP G G A rs61769731 by1000genomes TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:17084510G>A ENST00000455405.2 - 0 379 p.L525L(2)|p.L530L(2) ACCCGCTGTAGGCCTGGCTCT 0.577000 3 30 0 0 1 0 0 CTGF 1490 broad.mit.edu 37 6 132270603 132270603 + Missense_Mutation SNP C C A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr6:132270603C>A ENST00000367976.3 - 5 1051 c.851G>T c.(850-852)tGt>tTt p.C284F NM_001901.2 NP_001892.1 P29279 CTGF_HUMAN connective tissue growth factor 284 CTCK.|Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) ACATACTCCACAGAATTTAGC 0.527000 61 183 1.08141e-31 1.29967e-31 1 1 0 FCN3 8547 broad.mit.edu 37 1 27695795 27695795 + Missense_Mutation SNP C C T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:27695795C>T ENST00000270879.4 - 8 837 c.832G>A c.(832-834)Ggc>Agc p.G278S FCN3_ENST00000354982.2_Missense_Mutation_p.G267S NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 278 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CAGTCAATGCCATATTTGTGG 0.577000 18 75 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128485310 128485310 + Splice_Site SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:128485310G>A ENST00000325888.8 + 21 4051 c.e21+1 FLNC_ENST00000346177.6_Splice_Site NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GAGCCACACGGTGAGTGGACA 0.622000 3 17 0 0 1 0 0 ALKBH2 121642 broad.mit.edu 37 12 109530356 109530356 + Missense_Mutation SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:109530356T>A ENST00000429722.2 - 2 599 c.236A>T c.(235-237)gAt>gTt p.D79V ALKBH2_ENST00000440112.2_Missense_Mutation_p.D79V|ALKBH2_ENST00000343075.3_Missense_Mutation_p.D79V NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 79 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) GAAAATCTCATCTGCCTCAGC 0.522000 Direct reversal of damage 29 48 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142481168 142481168 + RNA SNP T T A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr8:142481168T>A ENST00000430863.1 - 0 2073 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TTGTGGCACATCAAGAGCTGG 0.597000 30 110 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104717551 104717551 + Missense_Mutation SNP G G T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr7:104717551G>T ENST00000334877.4 + 10 1444 c.910G>T c.(910-912)Gct>Tct p.A304S KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.A304S|KMT2E_ENST00000311117.3_Missense_Mutation_p.A304S|KMT2E_ENST00000257745.4_Missense_Mutation_p.A304S lysine (K)-specific methyltransferase 2E ACAAAGAATAGCTCTGAGATT 0.388000 6 28 5.9392e-07 6.43004e-07 1 1 0 CSRP2BP 57325 broad.mit.edu 37 20 18143347 18143347 + Missense_Mutation SNP G G A TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr20:18143347G>A ENST00000278816.2 + 7 2079 c.1429G>A c.(1429-1431)Gct>Act p.A477T CSRP2BP_ENST00000435364.2_Missense_Mutation_p.A477T|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A349T|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.A476T Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 477 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GAGGCTGGAAGCTTGTCCCGG 0.517000 21 60 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72680679 72680679 + Missense_Mutation SNP C C G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:72680679C>G ENST00000261180.4 + 2 1094 c.998C>G c.(997-999)gCc>gGc p.A333G NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 333 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TATTATTTAGCCTGGGCAATT 0.398000 20 56 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92609452 92609452 + Silent SNP C C G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr14:92609452C>G ENST00000298875.4 + 9 1239 c.954C>G c.(952-954)gcC>gcG p.A318A NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 318 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) CTGACTTGGCCCGTGTACCTA 0.418000 40 30 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30745264 30745264 + Missense_Mutation SNP C C G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr16:30745264C>G ENST00000262518.4 + 30 6929 c.6544C>G c.(6544-6546)Cag>Gag p.Q2182E SRCAP_ENST00000395059.2_Missense_Mutation_p.Q2120E|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q2024E NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2182 Helicase C-terminal. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AAAGGCAAATCAGAAGAGAAT 0.463000 13 19 0 0 1 0 0 BAG4 9530 broad.mit.edu 37 8 38050240 38050240 + Missense_Mutation SNP A A G TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr8:38050240A>G ENST00000287322.4 + 2 576 c.305A>G c.(304-306)tAt>tGt p.Y102C BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Intron NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 102 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) AATTCTAACTATTGGAATTCT 0.353000 14 49 0 0 1 0 0 CKS1B 1163 broad.mit.edu 37 1 154951209 154951210 + Frame_Shift_Ins INS - - T TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:154951209_154951210insT ENST00000368439.1 + 3 397_398 c.148_149insT c.(148-150)cttfs p.L50fs CKS1B_ENST00000308987.5_Frame_Shift_Ins_p.L66fs|CKS1B_ENST00000471245.1_3'UTR P61024 CKS1_HUMAN CDC28 protein kinase regulatory subunit 1B 66 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding breast(1)|large_intestine(1)|lung(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGAACCTCACATCTTGCTGTTC 0.465 8 21 --- --- --- --- GON4L 54856 broad.mit.edu 37 1 155735634 155735637 + Frame_Shift_Del DEL GCCA GCCA - TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr1:155735634_155735637delGCCA ENST00000437809.1 - 21 3749_3752 c.3627_3630delTGGC c.(3625-3630)tcfs p.SG1209fs GON4L_ENST00000361040.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000368331.1_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.SG1209fs|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1209 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCACAGAATTGCCAGAAACAATTA 0.490 9 60 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- DOCK5 80005 broad.mit.edu 37 8 25222144 25222144 + Frame_Shift_Del DEL T T - TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr8:25222144delT ENST00000276440.7 + 30 3091 c.3047delT c.(3046-3048)gtfs p.V1016fs NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1016 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TTCCGCAGGGTTTTTCTCCGT 0.418 2 4 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174147 + RNA DEL AACAAC AACAAC - rs113537246 TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr12:13174142_13174147delAACAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaacaaca 0.553 3 4 --- --- --- --- JPH3 57338 broad.mit.edu 37 16 87723649 87723649 + Frame_Shift_Del DEL G G - TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr16:87723649delG ENST00000284262.2 + 4 1925 c.1683delG c.(1681-1683)tcfs p.S561fs JPH3_ENST00000563609.1_3'UTR NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 561 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CCCGAGGTTCGGGCCGCAAGC 0.741 2 4 --- --- --- --- ZNF528-AS1 102724105 broad.mit.edu 37 19 52896073 52896074 + RNA DEL TA TA - TCGA-D6-A4Z9-01A-11D-A25D-08 TCGA-D6-A4Z9-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3279137c-938d-4043-8aa7-f92d3acac353 f96baddb-030d-4c48-a806-399713ca18ac g.chr19:52896073_52896074delTA ENST00000601562.1 - 0 784 GTGGAAGCTGTATATATATATA 0.460 2 4 --- --- --- ---