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 LUZP2 338645 broad.mit.edu 37 11 25004673 25004673 + Splice_Site SNP A A T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr11:25004673A>T ENST00000533227.1 + 9 628 c.339_splice c.e9-1 p.E114_splice LUZP2_ENST00000336930.6_Splice_Site_p.E200_splice NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 200 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TTTTTGTAGGAGTCACAGATG 0.403000 40 85 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40750818 40750818 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr15:40750818G>A ENST00000561234.1 + 2 414 c.155G>A c.(154-156)cGc>cAc p.R52H BAHD1_ENST00000560846.1_Missense_Mutation_p.R52H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R52H Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 52 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) ACAGGGCGCCGCAAGAATTAC 0.627000 23 52 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 3 33 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 4 94 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48741884 48741884 + Missense_Mutation SNP G G C TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr12:48741884G>C ENST00000544117.2 - 2 740 c.32C>G c.(31-33)tCt>tGt p.S11C ZNF641_ENST00000448928.3_5'UTR|ZNF641_ENST00000547026.1_5'UTR|ZNF641_ENST00000301042.3_Missense_Mutation_p.S11C Q96N77 ZN641_HUMAN zinc finger protein 641 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TTCTGCTGCAGACCCAAATTG 0.483000 13 38 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58270837 58270837 + Missense_Mutation SNP G G T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr3:58270837G>T ENST00000478253.1 + 8 1208 c.707G>T c.(706-708)cGc>cTc p.R236L ABHD6_ENST00000295962.4_Missense_Mutation_p.R236L Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 236 integral to membrane acylglycerol lipase activity p.R236H(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) GTCGATGTCCGCATCCCTCAT 0.443000 4 120 0.150653 0.153496 1 1 0 C7orf43 55262 broad.mit.edu 37 7 99754500 99754500 + Missense_Mutation SNP C C G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr7:99754500C>G ENST00000316937.3 - 6 1146 c.961G>C c.(961-963)Ggg>Cgg p.G321R C7orf43_ENST00000457641.1_Missense_Mutation_p.G52R|C7orf43_ENST00000419841.1_Missense_Mutation_p.G89R|C7orf43_ENST00000498638.1_5'UTR NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 321 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCTCACCCCCTCTCAGCTGA 0.602000 77 78 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76134727 76134727 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr7:76134727C>T ENST00000324432.5 + 12 2188 c.1678C>T c.(1678-1680)Ctc>Ttc p.L560F DTX2_ENST00000446600.1_Missense_Mutation_p.L469F|DTX2_ENST00000430490.2_Missense_Mutation_p.L560F|DTX2_ENST00000446820.2_Missense_Mutation_p.L513F|DTX2_ENST00000307569.8_Missense_Mutation_p.L513F|DTX2_ENST00000413936.2_Missense_Mutation_p.L560F NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 560 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 GAAGAGGCGGCTCATCTTCAC 0.622000 5 4 0 0 1 0 0 PTRF 284119 broad.mit.edu 37 17 40557272 40557272 + Silent SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr17:40557272C>T ENST00000357037.5 - 2 1025 c.606G>A c.(604-606)tcG>tcA p.S202S NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 202 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CCTCGTCCGACGAAAGCTCCA 0.667000 8 108 0 0 1 0 0 ACHE 43 broad.mit.edu 37 7 100490251 100490251 + Silent SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr7:100490251G>A ENST00000302913.4 - 3 1395 c.1257C>T c.(1255-1257)ccC>ccT p.P419P ACHE_ENST00000428317.1_Silent_p.P419P|ACHE_ENST00000411582.1_Silent_p.P419P|ACHE_ENST00000412389.1_Silent_p.P419P|ACHE_ENST00000241069.5_Silent_p.P419P|ACHE_ENST00000419336.2_Intron NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 419 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCGGGTCCTCGGGATGCAGCC 0.701000 13 25 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849095 94849095 + Missense_Mutation SNP C C A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr14:94849095C>A ENST00000448921.1 - 4 1052 c.480G>T c.(478-480)aaG>aaT p.K160N SERPINA1_ENST00000393088.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.K160N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.K160N NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 160 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AGTGGTACAACTTTTTAACAT 0.507000 8 95 0.27861 0.27861 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151846165 151846165 + Missense_Mutation SNP T T G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr7:151846165T>G ENST00000355193.2 - 53 13236 c.13018A>C c.(13018-13020)Aac>Cac p.N4340H KMT2C_ENST00000262189.6_Missense_Mutation_p.N4283H lysine (K)-specific methyltransferase 2C GTGGAGATGTTGTTGCTGTAC 0.498000 15 40 0 0 1 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263298 232263298 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr2:232263298G>A ENST00000287590.5 + 2 1129 c.868G>A c.(868-870)Ggc>Agc p.G290S NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 290 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GGCCCTGTACGGCAAGGCCAG 0.652000 6 28 0 0 1 0 0 PAQR4 124222 broad.mit.edu 37 16 3021258 3021258 + Silent SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr16:3021258C>T ENST00000318782.8 + 2 697 c.267C>T c.(265-267)tgC>tgT p.C89C PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Intron|PAQR4_ENST00000574988.1_Silent_p.C22C|PAQR4_ENST00000576565.1_Silent_p.C22C|PAQR4_ENST00000572687.1_Intron NM_152341.3 NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 89 integral to membrane receptor activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 GCGTGGCCTGCCTTGCACCCC 0.662000 6 41 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 46 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228494135 228494135 + Missense_Mutation SNP A A C TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr1:228494135A>C ENST00000570156.2 + 55 14667 c.14593A>C c.(14593-14595)Acc>Ccc p.T4865P OBSCN_ENST00000284548.11_Missense_Mutation_p.T3908P|OBSCN_ENST00000422127.1_Missense_Mutation_p.T3908P|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1027P|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1542P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3908 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTCCACGGCCACCCTGCAGTG 0.682000 8 20 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135277515 135277515 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr9:135277515C>T ENST00000334270.2 - 2 733 c.694G>A c.(694-696)Gag>Aag p.E232K NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 232 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GCCAGTGTCTCATATTCCCGG 0.483000 21 37 0 0 1 0 0 BARD1 580 broad.mit.edu 37 2 215617196 215617196 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr2:215617196G>A ENST00000260947.4 - 7 1786 c.1652C>T c.(1651-1653)tCa>tTa p.S551L BARD1_ENST00000449967.2_Missense_Mutation_p.S407L NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 551 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGCTGAGGATGATTCATTCTT 0.338000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 46 70 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13251264 13251264 + Silent SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr20:13251264G>A ENST00000262487.3 + 2 258 c.252G>A c.(250-252)ccG>ccA p.P84P TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 84 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 TCCCCAGACCGCGATTCCGAC 0.507000 4 16 0 0 1 0 0 AVEN 57099 broad.mit.edu 37 15 34295292 34295292 + Missense_Mutation SNP T T C TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr15:34295292T>C ENST00000306730.3 - 2 515 c.386A>G c.(385-387)aAt>aGt p.N129S CHRM5_ENST00000383263.5_Intron NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 129 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) ACTTTCATTATTGACCTCTTT 0.398000 24 49 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1078359 1078359 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr11:1078359G>A ENST00000441003.2 + 5 673 c.646G>A c.(646-648)Gca>Aca p.A216T MUC2_ENST00000359061.5_Missense_Mutation_p.A216T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 216 VWFD 1. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGTGGCCCCCGCATCCTGCTC 0.647000 3 30 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5765643 5765643 + Silent SNP G G T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr10:5765643G>T ENST00000328090.5 + 7 775 c.150G>T c.(148-150)ccG>ccT p.P50P RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 50 TTTTCAGACCGCAGGAACTAG 0.313000 14 49 3.45872e-05 3.73541e-05 1 1 0 PROKR2 128674 broad.mit.edu 37 20 5283201 5283201 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr20:5283201C>T ENST00000546004.1 - 3 886 c.640G>A c.(640-642)Gtg>Atg p.V214M PROKR2_ENST00000217270.3_Missense_Mutation_p.V214M Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 214 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGCTGATCCACAGGCCAGATC 0.512000 HNSCC(71;0.22) 28 56 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20800756 20800756 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr22:20800756C>T ENST00000328879.4 - 6 1669 c.1513G>A c.(1513-1515)Gcc>Acc p.A505T KLHL22_ENST00000440659.2_Missense_Mutation_p.A362T NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 505 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CTGTATCCGGCATCGTTGTTG 0.592000 11 14 0 0 1 0 0 ALYREF 10189 broad.mit.edu 37 17 79847127 79847127 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr17:79847127C>T ENST00000331204.4 - 3 474 c.448G>A c.(448-450)Gac>Aac p.D150N ALYREF_ENST00000505490.2_Missense_Mutation_p.D157N|ALYREF_ENST00000512673.1_5'UTR NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 150 Ala/Arg/Gly-rich.|RRM. D -> N (in Ref. 5; AAD09608). intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding AAGTGCACGTCTGCTGTTCCT 0.562000 26 34 0 0 1 0 0 SLC22A13 9390 broad.mit.edu 37 3 38316585 38316585 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr3:38316585G>A ENST00000311856.4 + 4 792 c.743G>A c.(742-744)cGc>cAc p.R248H SLC22A13_ENST00000450935.2_Silent_p.P155P NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 248 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TACGGTTTCCGCAACTGGAGG 0.617000 4 146 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121031011 121031011 + Silent SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr11:121031011C>T ENST00000392793.1 + 15 5128 c.4857C>T c.(4855-4857)tgC>tgT p.C1619C TECTA_ENST00000264037.2_Silent_p.C1619C O75443 TECTA_HUMAN tectorin alpha 1619 VWFD 4. C -> S (in DFNA12; dbSNP:rs28939691). cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACAAAGTGTGCGGTCTCTGTG 0.507000 32 28 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37255199 37255199 + Silent SNP A A G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr2:37255199A>G ENST00000233099.5 - 24 3815 c.3720T>C c.(3718-3720)ttT>ttC p.F1240F HEATR5B_ENST00000354531.2_Silent_p.F1240F NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1240 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GAGGGGCCACAAAGGGCTTTG 0.443000 15 31 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451578 37451578 + Splice_Site SNP G G C TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr10:37451578G>C ENST00000374660.1 + 16 1833 c.1732_splice c.e16-1 p.E578_splice ANKRD30A_ENST00000602533.1_Splice_Site_p.E578_splice|ANKRD30A_ENST00000361713.1_Splice_Site_p.E578_splice Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 634 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GCTTTTTAGAGCCTCCGGGGA 0.333000 6 97 0 0 1 0 0 PELO 53918 broad.mit.edu 37 5 52096235 52096235 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr5:52096235C>T ENST00000274311.2 + 2 992 c.7C>T c.(7-9)Ctc>Ttc p.L3F ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 3 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) GGCCATGAAGCTCGTGAGGAA 0.612000 6 25 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177521 7177521 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr12:7177521G>A ENST00000406697.1 + 15 2261 c.1633G>A c.(1633-1635)Gtc>Atc p.V545I C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.V545I|C1S_ENST00000402681.3_Missense_Mutation_p.V378I|C1S_ENST00000360817.5_Missense_Mutation_p.V545I P09871 C1S_HUMAN complement component 1, s subcomponent 545 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGGACCCACCGTCTCTCCCAT 0.552000 8 16 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10212891 10212891 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr17:10212891C>T ENST00000418404.3 - 33 5076 c.4913G>A c.(4912-4914)cGc>cAc p.R1638H MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1638 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGCCATCTGGCGGTTGGAGTG 0.622000 6 16 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697664 113697664 + Nonsense_Mutation SNP G G T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr8:113697664G>T ENST00000297405.5 - 15 2697 c.2453C>A c.(2452-2454)tCa>tAa p.S818* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S818*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S778*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S714* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 818 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCCACGTCCTGACATTGAGTG 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 54 4.35082e-09 4.79478e-09 1 1 0 SDF2L1 23753 broad.mit.edu 37 22 21998284 21998284 + Missense_Mutation SNP C C G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr22:21998284C>G ENST00000248958.4 + 3 562 c.486C>G c.(484-486)ttC>ttG p.F162L NM_022044.2 NP_071327.2 Q9HCN8 SDF2L_HUMAN stromal cell-derived factor 2-like 1 162 MIR 3. F -> L (in Ref. 1; BAB18277). endoplasmic reticulum lumen|membrane prostate(1) 1 Colorectal(54;0.105) CTGTGCGCTTCCAGCATGTGG 0.627000 OREG0026342 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 20 0 0 1 0 0 LRRC1 55227 broad.mit.edu 37 6 53660191 53660191 + Missense_Mutation SNP A A G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr6:53660191A>G ENST00000370888.1 + 1 414 c.137A>G c.(136-138)aAc>aGc p.N46S LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 46 cytoplasm|membrane cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CTGGACGCCAACCAGCTCCGC 0.662000 12 13 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665932 8665932 + Silent SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr19:8665932G>A ENST00000270328.4 - 5 956 c.690C>T c.(688-690)ggC>ggT p.G230G ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.G230G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 230 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 ATCGCTTCAGGCCTGGCTGGC 0.637000 17 24 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13357328 13357328 + Missense_Mutation SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr8:13357328C>T ENST00000276297.4 - 2 662 c.253G>A c.(253-255)Gtg>Atg p.V85M DLC1_ENST00000316609.5_Missense_Mutation_p.V85M|DLC1_ENST00000511869.1_Missense_Mutation_p.V85M NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 85 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTTTCGTCCACATCCTTTGAA 0.458000 6 251 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 3 63 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 96 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358340 72358340 + Silent SNP C C T TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr10:72358340C>T ENST00000441259.1 - 3 1297 c.1137G>A c.(1135-1137)cgG>cgA p.R379R PRF1_ENST00000373209.2_Silent_p.R379R NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 379 EGF-like. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GTGGGCACGGCCGGCTGCAGT 0.701000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 3 10 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18027870 18027870 + Missense_Mutation SNP C C A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr22:18027870C>A ENST00000262608.8 + 16 2830 c.2830C>A c.(2830-2832)Cca>Aca p.P944T CECR2_ENST00000400573.4_Missense_Mutation_p.P943T|CECR2_ENST00000400585.2_Missense_Mutation_p.P801T NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 985 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGAGAAACCACCAGGTGTTGG 0.473000 3 5 0.115264 0.119697 1 1 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 10 15 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708854 180708855 + RNA INS - - G rs60396213 TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr5:180708854_180708855insG ENST00000412295.2 + 0 238 GAGCGGTAGGAGGGGGGCTGGA 0.693 2 4 --- --- --- --- RBAK 57786 broad.mit.edu 37 7 5112027 5112029 + In_Frame_Del DEL TGC TGC - TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr7:5112027_5112029delTGC ENST00000407184.1 + 7 600_602 c.334_336delTGC c.(334-336)del p.C117del RBAK_ENST00000396904.2_In_Frame_Del_p.VA91del|RBAK_ENST00000498308.1_3'UTR Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 0 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) CCCCCgctgttgctgctgctgct 0.709 2 4 --- --- --- --- OMD 4958 broad.mit.edu 37 9 95178945 95178945 + Frame_Shift_Del DEL G G - TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr9:95178945delG ENST00000375550.4 - 2 1171 c.896delC c.(895-897)cafs p.P299fs CENPP_ENST00000375587.3_Intron NM_005014.2 NP_005005.1 Q99983 OMD_HUMAN osteomodulin 299 cell adhesion proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2) 16 CAAATTTCTTGGAATATAGAA 0.308 T USP6 aneurysmal bone cysts 11 30 --- --- --- --- TMEM179B 374395 broad.mit.edu 37 11 62557409 62557411 + In_Frame_Del DEL GTC GTC - rs149169067 TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr11:62557409_62557411delGTC ENST00000333449.4 + 5 555_557 c.550_552delGTC c.(550-552)del p.V185del TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR NM_199337.2 NP_955369.1 Q7Z7N9 T179B_HUMAN transmembrane protein 179B 185 integral to membrane kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 GGTGCTCCAGGTCGTGCAGTGGA 0.562 66 122 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061229 38061237 + In_Frame_Del DEL ACATGTTGC ACATGTTGC - TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr14:38061229_38061237delACATGTTGC ENST00000250448.2 - 2 813_821 c.752_760delGCAACATGT c.(751-762)gtc>g p.GNMF251del FOXA1_ENST00000540786.1_In_Frame_Del_p.GNMF218del|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 251 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.M253R(2)|p.M253K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGTTCTCGAACATGTTGCCGGAGTCCGG 0.689 8 15 --- --- --- --- WSCD1 23302 broad.mit.edu 37 17 5984071 5984071 + Frame_Shift_Del DEL C C - TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr17:5984071delC ENST00000574946.1 + 2 483 c.93delC c.(91-93)agfs p.S31fs WSCD1_ENST00000574232.1_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000317744.5_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.S31fs Q658N2 WSCD1_HUMAN WSC domain containing 1 31 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 TGACCGGCAGCCTGCTGCTGC 0.682 8 13 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 8 28 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70465321 70465322 + Frame_Shift_Del DEL GG GG - TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdd3c350-9cd0-45f3-a822-6174c4edfba0 df551c39-d578-49ea-8e80-24c14dbb340d g.chrX:70465321_70465322delGG ENST00000373998.1 - 18 3535_3536 c.2838_2839delCC c.(2836-2841)aaagfs p.NQ946fs ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.NQ960fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 958 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TCTGCACTCTGGTTGCTCACAA 0.545 4 5 --- --- --- ---