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 FERD3L 222894 broad.mit.edu 37 7 19184880 19184880 + Missense_Mutation SNP C C T rs145435922 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:19184880C>T ENST00000275461.3 - 1 164 c.106G>A c.(106-108)Ggg>Agg p.G36R AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 36 G -> R (in a colorectal cancer sample; somatic mutation). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.G36R(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 AAGGAGACCCCGGGTGCGAAG 0.657000 4 43 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56484250 56484250 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:56484250C>T ENST00000370765.6 - 23 4689 c.4582G>A c.(4582-4584)Gat>Aat p.D1528N DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 5205 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTAGATGATCTGATTTTCTC 0.313000 15 26 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178937422 178937422 + Missense_Mutation SNP T T C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:178937422T>C ENST00000263967.3 + 12 1967 c.1810T>C c.(1810-1812)Tgt>Cgt p.C604R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 604 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C604R(2) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACTTCTGGACTGTAATTACCC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 16 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126716241 126716241 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr10:126716241C>T ENST00000309035.6 - 1 218 c.88G>A c.(88-90)Gag>Aag p.E30K CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.E30K(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CGCAGGGACTCGGCGTTCTCC 0.587000 4 26 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 7364 7364 + Missense_Mutation SNP A A G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrM:7364A>G ENST00000361624.2 + 1 1461 c.1461A>G c.(1459-1461)gaA>gaG p.487_487insE mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 ATAGTAGAAGAACCCTCCATA 0.398000 4 122 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205126443 205126443 + Silent SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:205126443G>A ENST00000367162.3 - 10 2340 c.2310C>T c.(2308-2310)agC>agT p.S770S DSTYK_ENST00000367161.3_Silent_p.S770S|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 770 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 CAAGTCCCTGGCTGTGCAGGA 0.488000 22 34 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64141740 64141740 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrX:64141740G>A ENST00000545618.1 - 3 730 c.167C>T c.(166-168)gCc>gTc p.A56V ZC4H2_ENST00000337990.2_Missense_Mutation_p.A38V|ZC4H2_ENST00000374839.3_Missense_Mutation_p.A61V|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A61V Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 61 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTCCACATGGGCCATCTTCTC 0.507000 7 20 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105455303 105455303 + Missense_Mutation SNP T T G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr14:105455303T>G ENST00000547315.1 + 2 1086 c.447T>G c.(445-447)atT>atG p.I149M C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 149 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) ATGAGAACATTTTAAAGTGTG 0.373000 6 32 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3407 3407 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrM:3407G>A ENST00000361390.2 + 1 101 c.101G>A c.(100-102)cGc>cAc p.34_34insH mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 TATACAACTACGCAAAGGCCC 0.488000 166 19 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55931950 55931950 + Missense_Mutation SNP G G C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr15:55931950G>C ENST00000389286.4 - 13 2261 c.2214C>G c.(2212-2214)atC>atG p.I738M NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 738 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) AGTGCAGGAAGATGGAAGATG 0.488000 43 42 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61288206 61288206 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr20:61288206C>T ENST00000217159.1 + 2 605 c.400C>T c.(400-402)Cgc>Tgc p.R134C SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R134C NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 134 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CCTGGAGCGCCGCTATGACCT 0.612000 7 71 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181702803 181702803 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:181702803C>T ENST00000526775.1 + 20 3287 c.3122C>T c.(3121-3123)aCg>aTg p.T1041M CACNA1E_ENST00000367567.4_Missense_Mutation_p.T667M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T992M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1041M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1011M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1060M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1060M NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1060 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACGGCCAACACGGACAAGGCC 0.642000 5 15 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45811363 45811363 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr21:45811363C>T ENST00000397928.1 + 11 2094 c.1649C>T c.(1648-1650)gCg>gTg p.A550V TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.A550V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A550V|TRPM2_ENST00000300481.9_Intron NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 550 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCGGCTTgcgcgcccgcggcg 0.687000 12 19 0 0 1 0 0 HDAC8 55869 broad.mit.edu 37 X 71684476 71684476 + Silent SNP T T C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrX:71684476T>C ENST00000373573.3 - 8 1184 c.843A>G c.(841-843)ccA>ccG p.P281P HDAC8_ENST00000373589.4_Silent_p.P190P|HDAC8_ENST00000429103.2_Silent_p.P86P|HDAC8_ENST00000373583.1_Intron NM_018486.2 NP_060956.1 Q9BY41 HDAC8_HUMAN histone deacetylase 8 281 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1) 10 Renal(35;0.156) Vorinostat(DB02546) CAATTCCCACTGGAGTCATGT 0.448000 16 84 0 0 1 0 0 CES1P1 0 broad.mit.edu 37 16 55806427 55806427 + RNA SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr16:55806427C>G ENST00000571348.1 + 0 729 NR_003276.2 GAAAGTGTCTCTGTTCTTGTG 0.552000 7 16 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150485731 150485731 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:150485731G>A ENST00000369047.4 + 10 1536 c.1411G>A c.(1411-1413)Gat>Aat p.D471N ECM1_ENST00000369049.4_Missense_Mutation_p.D498N|ECM1_ENST00000346569.6_Missense_Mutation_p.D346N|ECM1_ENST00000470432.1_3'UTR NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 471 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTTCATCAATGATCTGTGTGG 0.478000 13 74 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 105937564 105937564 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrX:105937564G>A ENST00000324342.3 + 1 497 c.332G>A c.(331-333)aGa>aAa p.R111K NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 137 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 ACAGCGGGCAGAAGAAATGCT 0.383000 13 25 0 0 1 0 0 PUS3 83480 broad.mit.edu 37 11 125765618 125765618 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:125765618C>G ENST00000227474.3 - 3 542 c.445G>C c.(445-447)Gag>Cag p.E149Q PUS3_ENST00000530811.1_Missense_Mutation_p.E149Q|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597.3 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 149 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) TTAGCCTCCTCTTTTACATTA 0.493000 26 69 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64374750 64374750 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:64374750G>A ENST00000265459.6 - 23 5518 c.5057C>T c.(5056-5058)gCg>gTg p.A1686V NRXN2_ENST00000377559.3_Missense_Mutation_p.A1616V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A640V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A1679V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1686V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1686 cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TTTCACCACCGCCCCATTGCT 0.582000 9 29 0 0 1 0 0 TRGV2 0 broad.mit.edu 37 7 38402540 38402540 + RNA SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:38402540C>G ENST00000426402.2 - 0 468 TCAAGTTGTTCCTTGTGCTTG 0.468000 27 38 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21344752 21344752 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr22:21344752C>G ENST00000215739.8 + 8 1088 c.729C>G c.(727-729)ttC>ttG p.F243L LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 243 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGTTTGTATTCTCTGGGCAAA 0.567000 92 29 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24040296 24040296 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr14:24040296C>T ENST00000397118.3 - 6 2546 c.1644G>A c.(1642-1644)gaG>gaA p.E548E JPH4_ENST00000356300.4_Silent_p.E548E|JPH4_ENST00000544177.1_Silent_p.E213E NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 548 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GCTCTTCATCCTCCCCCTCCT 0.672000 65 61 0 0 1 0 0 OS9 10956 broad.mit.edu 37 12 58113962 58113962 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr12:58113962G>A ENST00000315970.7 + 13 1722 c.1681G>A c.(1681-1683)Gag>Aag p.E561K OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000551035.1_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.E546K NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 561 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GACTGTCCTCGAGATGAAACG 0.602000 39 85 0 0 1 0 0 IGHM 0 broad.mit.edu 37 14 106320490 106320490 + RNA SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr14:106320490G>A ENST00000390559.2 - 0 1319 CCAGGGACACGTTGTACAGGG 0.652000 57 41 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161143778 161143778 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:161143778C>T ENST00000319769.5 - 5 773 c.551G>A c.(550-552)cGt>cAt p.R184H B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R184H|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 184 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CTCTTCATCACGCAGGGCCTC 0.527000 40 37 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81388026 81388026 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:81388026C>G ENST00000222390.5 - 3 575 c.349G>C c.(349-351)Gac>Cac p.D117H HGF_ENST00000444829.2_Missense_Mutation_p.D117H|HGF_ENST00000457544.2_Missense_Mutation_p.D117H|HGF_ENST00000354224.6_Missense_Mutation_p.D117H|HGF_ENST00000453411.1_Missense_Mutation_p.D117H|HGF_ENST00000423064.2_Missense_Mutation_p.D117H|HGF_ENST00000453018.1_Missense_Mutation_p.D14H NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 117 PAN. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCATAGAGGTCAAATTCATGG 0.348000 16 13 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44352095 44352095 + Nonsense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr19:44352095C>T ENST00000324461.7 + 7 1639 c.1342C>T c.(1342-1344)Caa>Taa p.Q448* ZNF283_ENST00000588797.1_Nonsense_Mutation_p.Q309* NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TCACCTTTCTCAACATCAGAA 0.393000 39 58 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68170953 68170953 + Silent SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:68170953G>A ENST00000294304.7 + 8 1693 c.1587G>A c.(1585-1587)gtG>gtA p.V529V NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 529 Beta-propeller 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCCTGCAGGTGATCAATGTTG 0.592000 10 40 0 0 1 0 0 PCDHGA2 0 broad.mit.edu 37 5 140719629 140719629 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr5:140719629C>T ENST00000394576.2 + 1 1091 c.1091C>T c.(1090-1092)aCc>aTc p.T364I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCAGGAACCATAATTGGG 0.438000 11 78 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584412 82584412 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:82584412C>G ENST00000423517.2 - 5 6194 c.5857G>C c.(5857-5859)Gag>Cag p.E1953Q PCLO_ENST00000333891.8_Missense_Mutation_p.E1953Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1884 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 ATATAATCCTCTATTAGCATC 0.368000 5 47 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101727709 101727709 + Missense_Mutation SNP C C A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr8:101727709C>A ENST00000318607.5 - 4 1752 c.624G>T c.(622-624)aaG>aaT p.K208N PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.K176N|PABPC1_ENST00000519004.1_Missense_Mutation_p.K163N NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 208 CSDE1-binding.|RRM 3. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CAAAGAGATCCTTAAGGCGCT 0.353000 8 89 1.26484e-09 1.34917e-09 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161113261 161113261 + Nonsense_Mutation SNP G G T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr5:161113261G>T ENST00000523217.1 + 2 306 c.64G>T c.(64-66)Gaa>Taa p.E22* GABRA6_ENST00000274545.5_Nonsense_Mutation_p.E22*|GABRA6_ENST00000522269.1_3'UTR NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 22 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGGAAACTCGAAGTTGAAGG 0.478000 TCGA Ovarian(5;0.080) 20 42 1.01871e-10 1.10504e-10 1 1 0 USP19 10869 broad.mit.edu 37 3 49154288 49154288 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:49154288C>G ENST00000453664.1 - 7 1286 c.968G>C c.(967-969)gGa>gCa p.G323A USP19_ENST00000417901.1_Missense_Mutation_p.G333A|USP19_ENST00000434032.2_Missense_Mutation_p.G333A|USP19_ENST00000398888.2_Missense_Mutation_p.G232A|USP19_ENST00000398896.1_Missense_Mutation_p.G38A|USP19_ENST00000398898.2_Missense_Mutation_p.G270A|USP19_ENST00000398892.3_Missense_Mutation_p.G270A NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 232 CS 2. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGCTTTCTCTCCTGCCAAAGG 0.552000 6 42 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226923851 226923851 + Missense_Mutation SNP A A T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:226923851A>T ENST00000429204.1 - 2 1636 c.1309T>A c.(1309-1311)Tgg>Agg p.W437R ITPKB_ENST00000366784.1_Missense_Mutation_p.W437R|ITPKB_ENST00000272117.3_Missense_Mutation_p.W437R NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 437 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GAGAGCTGCCAACGCCCCCCG 0.706000 5 46 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254756 51254756 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr2:51254756G>A ENST00000404971.1 - 2 1995 c.656C>T c.(655-657)gCg>gTg p.A219V NRXN1_ENST00000406316.2_Missense_Mutation_p.A219V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219V|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219V NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 219 EGF-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCCTCGCCCGCCTCGCACGG 0.716000 5 15 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654204 61654204 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr18:61654204C>T ENST00000397985.2 + 7 1073 c.817C>T c.(817-819)Ctg>Ttg p.L273L SERPINB8_ENST00000542677.1_Silent_p.L91L|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Silent_p.L273L NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 273 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) CAGATTAAAGCTGGAGGAGAG 0.398000 19 53 0 0 1 0 0 LRRC24 441381 broad.mit.edu 37 8 145749618 145749618 + Silent SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr8:145749618C>G ENST00000529415.2 - 4 600 c.483G>C c.(481-483)ctG>ctC p.L161L LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Silent_p.L158L|LRRC14_ENST00000292524.1_3'UTR Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 161 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CCTGGTCCTCCAGCAGCTCAA 0.617000 11 173 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33292748 33292748 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr14:33292748C>T ENST00000280979.4 + 13 5899 c.5729C>T c.(5728-5730)cCg>cTg p.P1910L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1910 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAGGGAAAACCGAATGTGACT 0.343000 7 26 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3946 3946 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrM:3946G>A ENST00000361390.2 + 1 640 c.640G>A c.(640-642)Gaa>Aaa p.214_214insK mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 GCTTCAACATCGAATACGCCG 0.473000 18 237 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82348927 82348927 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr4:82348927C>G ENST00000509081.1 - 14 1635 c.1414G>C c.(1414-1416)Gtt>Ctt p.V472L RASGEF1B_ENST00000264400.2_Missense_Mutation_p.V473L|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V431L Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 473 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 ATGTGTTAAACTCTGCCTAAG 0.468000 5 21 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152749391 152749391 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:152749391C>G ENST00000367255.5 - 37 5526 c.4925G>C c.(4924-4926)aGg>aCg p.R1642T SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1642 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCTTCGCCCTCCTTAGGAT 0.532000 HNSCC(10;0.0054) 40 196 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003773 34003773 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:34003773C>T ENST00000374181.3 - 8 2283 c.2114G>A c.(2113-2115)aGc>aAc p.S705N GRM4_ENST00000545715.1_Missense_Mutation_p.S397N|GRM4_ENST00000538487.1_Missense_Mutation_p.S705N|GRM4_ENST00000544773.1_Missense_Mutation_p.S536N|GRM4_ENST00000535756.1_Missense_Mutation_p.S572N|GRM4_ENST00000455714.2_Missense_Mutation_p.S565N|GRM4_ENST00000374177.3_Missense_Mutation_p.S589N NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 705 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CGAGATGAGGCTGAAGGTGAT 0.637000 21 120 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106465 27106465 + Nonsense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:27106465C>T ENST00000324856.7 + 20 6447 c.6076C>T c.(6076-6078)Cag>Tag p.Q2026* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1643*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q354*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1809* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2026 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q2026*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGAACGGAAGCAGGCACCACT 0.542000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 47 48 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72338371 72338371 + Missense_Mutation SNP G G C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr12:72338371G>C ENST00000333850.3 + 4 586 c.445G>C c.(445-447)Gag>Cag p.E149Q TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 149 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) AACAGAGCTAGAGGATGTGCC 0.433000 20 76 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608177 84608177 + Nonsense_Mutation SNP C C A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr9:84608177C>A ENST00000344803.2 + 4 2839 c.2792C>A c.(2791-2793)tCg>tAg p.S931* NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ATCTTCAAATCGAAAGCGGAC 0.468000 8 30 0.00448238 0.00462697 1 1 0 SLC16A5 9121 broad.mit.edu 37 17 73096694 73096694 + Silent SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:73096694C>G ENST00000450736.2 + 4 1351 c.936C>G c.(934-936)ctC>ctG p.L312L SLC16A5_ENST00000538213.2_Silent_p.L352L|SLC16A5_ENST00000580123.1_Silent_p.L312L|SLC16A5_ENST00000329783.4_Silent_p.L312L O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 312 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCCTGGCACTCCTGCTCAATG 0.612000 26 113 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149782827 149782827 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr5:149782827G>A ENST00000009530.7 - 7 675 c.674C>T c.(673-675)cCg>cTg p.P225L CD74_ENST00000353334.6_Intron|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain 225 Thyroglobulin type-1. antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAATGAACCCGGGTGGACAGC 0.577000 T ROS1 NSCLC 22 180 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136879965 136879965 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:136879965C>T ENST00000359015.4 - 29 4397 c.4037G>A c.(4036-4038)cGt>cAt p.R1346H MAP3K5_ENST00000355845.4_Missense_Mutation_p.R593H NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1346 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TAAGTCATCACGTGTAACATA 0.333000 18 42 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13399 13399 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrM:13399G>A ENST00000361567.2 + 1 1063 c.1063G>A c.(1063-1065)Gat>Aat p.D355N P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 355 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ACAATGAACAAGATATTCGAA 0.453000 134 85 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120302610 120302610 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:120302610G>A ENST00000369406.3 - 3 611 c.562C>T c.(562-564)Cgt>Tgt p.R188C HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 188 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ATGGCATAACGACCTGTAAAG 0.488000 4 24 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56435862 56435862 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr8:56435862C>T ENST00000327381.5 + 3 1129 c.1029C>T c.(1027-1029)ctC>ctT p.L343L NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 343 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CAGCTTCCCTCGTGTCCCTGG 0.572000 35 10 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47269915 47269915 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr20:47269915C>T ENST00000396220.1 - 20 2352 c.2330G>A c.(2329-2331)cGg>cAg p.R777Q PREX1_ENST00000371941.3_Missense_Mutation_p.R777Q Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 777 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CTCTTCGCGCCGACTCCGGAA 0.582000 65 118 0 0 1 0 0 USPL1 10208 broad.mit.edu 37 13 31233271 31233271 + Silent SNP T T C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr13:31233271T>C ENST00000255304.4 + 9 3399 c.3057T>C c.(3055-3057)caT>caC p.H1019H NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 1019 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AGAACACACATCTGAGACAGG 0.418000 14 80 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096220 73096220 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:73096220C>T ENST00000450736.2 + 4 877 c.462C>T c.(460-462)ctC>ctT p.L154L SLC16A5_ENST00000538213.2_Silent_p.L194L|SLC16A5_ENST00000580123.1_Silent_p.L154L|SLC16A5_ENST00000329783.4_Silent_p.L154L O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 154 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCATCACCCTCTGGCCGCTGC 0.647000 13 45 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6322 6322 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrM:6322G>A ENST00000361624.2 + 1 419 c.419G>A c.(418-420)gGa>gAa p.140_140insE mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CTCCCACCCTGGAGCCTCCGT 0.502000 61 186 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70291497 70291497 + Missense_Mutation SNP A A T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:70291497A>T ENST00000310961.5 + 6 807 c.389A>T c.(388-390)aAt>aTt p.N130I LRRC7_ENST00000035383.5_Missense_Mutation_p.N125I|LRRC7_ENST00000370958.1_Missense_Mutation_p.N163I|LRRC7_ENST00000415775.2_5'UTR Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 125 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GCCAGTGTCAATCCCATTTCT 0.269000 4 12 0 0 1 0 0 C6orf70 0 broad.mit.edu 37 6 170181480 170181480 + Silent SNP C C T rs151319719 byFrequency TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:170181480C>T ENST00000588451.1 + 17 2013 c.1500C>T c.(1498-1500)taC>taT p.Y500Y C6orf70_ENST00000366772.2_Silent_p.Y589Y|C6orf70_ENST00000418781.3_Silent_p.Y563Y|C6orf70_ENST00000366773.3_Silent_p.Y636Y|C6orf70_ENST00000392095.4_Silent_p.Y510Y Q5T6L9 CF070_HUMAN 636 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) ACACCAGTTACGAAAAGAACA 0.323000 8 19 0 0 1 0 0 CCSAP 126731 broad.mit.edu 37 1 229461116 229461116 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:229461116C>T ENST00000284617.2 - 4 803 c.679G>A c.(679-681)Gaa>Aaa p.E227K CCSAP_ENST00000366686.1_Missense_Mutation_p.E113K|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366687.1_Missense_Mutation_p.E227K NM_145257.3 NP_660300.3 centriole, cilia and spindle-associated protein TTCCTTTTTTCCACCTGTCTT 0.423000 16 33 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20818779 20818779 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr14:20818779G>A ENST00000527915.1 + 5 463 c.458G>A c.(457-459)cGa>cAa p.R153Q PARP2_ENST00000250416.5_Missense_Mutation_p.R153Q|PARP2_ENST00000429687.3_Missense_Mutation_p.R140Q Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 153 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) AGATGGGGCCGAGGTAATGAT 0.413000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 8 52 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228481947 228481947 + Silent SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:228481947G>A ENST00000570156.2 + 47 12587 c.12513G>A c.(12511-12513)ccG>ccA p.P4171P OBSCN_ENST00000422127.1_Silent_p.P3742P|OBSCN_ENST00000366709.4_Silent_p.P861P|OBSCN_ENST00000284548.11_Silent_p.P3742P|OBSCN_ENST00000359599.6_Silent_p.P2589P|OBSCN_ENST00000366707.4_Silent_p.P861P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3214 Ig-like 43. 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) AGGCGGCACCGGTGGAGTGGA 0.627000 38 152 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10432392 10432392 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:10432392C>T ENST00000245503.5 - 27 3743 c.3359G>A c.(3358-3360)cGc>cAc p.R1120H CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1120H|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1120 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCCTCAATGCGGGCCTGGGA 0.532000 35 19 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57581077 57581077 + Missense_Mutation SNP A A G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr12:57581077A>G ENST00000243077.3 + 42 7335 c.6869A>G c.(6868-6870)tAt>tGt p.Y2290C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2290 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) GGCCTGGCCTATCACCGTGGC 0.637000 26 42 0 0 1 0 0 ALG1 56052 broad.mit.edu 37 16 5122951 5122951 + Splice_Site SNP G G T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr16:5122951G>T ENST00000588623.1 + 3 975 c.e3-1 ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000262374.5_Splice_Site Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) TCATTTTTCAGACTCCAAACC 0.438000 6 75 0.00198382 0.00206446 1 1 0 SLC16A5 9121 broad.mit.edu 37 17 73096839 73096839 + Nonsense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:73096839C>T ENST00000450736.2 + 4 1496 c.1081C>T c.(1081-1083)Cag>Tag p.Q361* SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.Q401*|SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.Q361*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.Q361* O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 361 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) CCCCATGGATCAGTTCCCCAG 0.627000 15 49 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100531442 100531442 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrX:100531442C>G ENST00000372907.3 - 10 1035 c.1024G>C c.(1024-1026)Gat>Cat p.D342H TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 342 Glu-rich. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 tcatcctcatcttcatcatcc 0.418000 30 36 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151130354 151130354 + Missense_Mutation SNP C C A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:151130354C>A ENST00000367328.1 + 9 1338 c.1026C>A c.(1024-1026)ttC>ttA p.F342L PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F342L NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 342 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGACGCTCTTCCTCTTCGACA 0.562000 8 99 1.26484e-09 1.34917e-09 1 1 0 SLC16A5 9121 broad.mit.edu 37 17 73100228 73100228 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:73100228C>G ENST00000450736.2 + 5 1732 c.1317C>G c.(1315-1317)ttC>ttG p.F439L SLC16A5_ENST00000538213.2_Missense_Mutation_p.F479L|SLC16A5_ENST00000580123.1_Missense_Mutation_p.F439L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F439L O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 439 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GGGATCTTTTCTTGGAAGCCA 0.572000 15 65 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10921996 10921996 + Splice_Site SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr21:10921996C>T ENST00000298232.7 - 17 1341 c.e17-1 TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000415664.2_Splice_Site NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 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) CCTGTTCTATCTAGAAAAGAA 0.313000 15 41 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584377 82584377 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:82584377C>T ENST00000423517.2 - 5 6229 c.5892G>A c.(5890-5892)acG>acA p.T1964T PCLO_ENST00000333891.8_Silent_p.T1964T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1895 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 ATCCATTGTACGTGTCTTCTA 0.383000 9 48 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615525 140615525 + RNA SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr5:140615525G>A ENST00000526308.1 + 0 1588 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CAACAGCCCCGCCCTGCACAT 0.632000 51 315 0 0 1 0 0 FGF6 2251 broad.mit.edu 37 12 4554486 4554486 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr12:4554486C>T ENST00000228837.2 - 1 294 c.251G>A c.(250-252)cGg>cAg p.R84Q NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 84 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CCTCCGCTGCCGCTTGATCCC 0.652000 35 79 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810819 65810819 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:65810819C>T ENST00000312006.4 - 3 736 c.455G>A c.(454-456)cGc>cAc p.R152H GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R152H NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 152 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 GGCCGGCTCGCGCAGGATGGT 0.697000 7 22 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14543063 14543063 + Missense_Mutation SNP A A C rs45626231 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr18:14543063A>C ENST00000358970.5 - 1 82 c.83T>G c.(82-84)tTt>tGt p.F28C POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 28 F -> C (in dbSNP:rs45626231). NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GCGGTGGTGAAACCACTTGCC 0.547000 7 213 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49662661 49662661 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:49662661C>G ENST00000296452.4 + 2 592 c.478C>G c.(478-480)Cag>Gag p.Q160E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 160 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTCCGTCCCTCAGATCGCCCC 0.627000 48 39 0 0 1 0 0 PCDHB5 0 broad.mit.edu 37 5 140516678 140516678 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr5:140516678C>T ENST00000231134.5 + 1 1879 c.1662C>T c.(1660-1662)aaC>aaT p.N554N NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 554 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGACGCCAACGACAACTCGC 0.716000 8 147 0 0 1 0 0 CLASRP 11129 broad.mit.edu 37 19 45561130 45561130 + Missense_Mutation SNP A A T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr19:45561130A>T ENST00000544944.2 + 6 1279 c.587A>T c.(586-588)gAc>gTc p.D196V CLASRP_ENST00000391953.4_Missense_Mutation_p.D134V|CLASRP_ENST00000221455.3_Missense_Mutation_p.D196V Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 196 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 AGCAACTCGGACGAAGATGAG 0.612000 30 40 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112876758 112876758 + Missense_Mutation SNP T T C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr5:112876758T>C ENST00000161863.4 + 9 1517 c.1304T>C c.(1303-1305)gTg>gCg p.V435A YTHDC2_ENST00000515883.1_Missense_Mutation_p.V435A NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 435 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GTTCTAAATGTGACTGATGAG 0.403000 7 59 0 0 1 0 0 SLC16A5 9121 broad.mit.edu 37 17 73096514 73096514 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:73096514C>T ENST00000450736.2 + 4 1171 c.756C>T c.(754-756)ttC>ttT p.F252F SLC16A5_ENST00000538213.2_Silent_p.F292F|SLC16A5_ENST00000580123.1_Silent_p.F252F|SLC16A5_ENST00000329783.4_Silent_p.F252F O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 252 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity p.F252L(2) central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TCCTGGGCTTCCCACTGCCAC 0.607000 17 52 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201489 71201489 + Missense_Mutation SNP A A C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr4:71201489A>C ENST00000273936.4 + 1 792 c.733A>C c.(733-735)Agt>Cgt p.S245R NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 245 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 AATTGACCTAAGTGTTTTAGA 0.408000 6 54 0 0 1 0 0 IGHV1-69 0 broad.mit.edu 37 14 107169998 107169998 + RNA SNP G G C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr14:107169998G>C ENST00000390633.2 - 0 344 GGCTGTGCTCGTGGATTTGTC 0.532000 8 351 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 67862963 67862963 + Silent SNP G G A rs147760277 byFrequency TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr10:67862963G>A ENST00000433211.1 - 14 2103 c.1929C>T c.(1927-1929)caC>caT p.H643H CTNNA3_ENST00000373744.4_Silent_p.H643H NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 643 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGCGGACCTCGTGTTCCTCTT 0.458000 25 16 0 0 1 0 0 CYP2U1 113612 broad.mit.edu 37 4 108866752 108866752 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr4:108866752G>A ENST00000332884.6 + 2 1392 c.1117G>A c.(1117-1119)Gat>Aat p.D373N RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.D164N NM_183075.2 NP_898898.1 Q7Z449 CP2U1_HUMAN cytochrome P450, family 2, subfamily U, polypeptide 1 373 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000128) GCTGAACCCCGATGTACAAGG 0.408000 9 61 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745756 37745756 + Missense_Mutation SNP G G T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr9:37745756G>T ENST00000539465.1 + 16 4320 c.3727G>T c.(3727-3729)Gac>Tac p.D1243Y RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1243Y Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1243 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AGCCCCTAGGGACAGCCCTGA 0.512000 44 60 3.66854e-30 4.08325e-30 1 1 0 DYRK3 8444 broad.mit.edu 37 1 206821770 206821770 + Silent SNP C C T rs146045931 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:206821770C>T ENST00000367106.1 + 4 1640 c.1167C>T c.(1165-1167)ttC>ttT p.F389F DYRK3_ENST00000367109.2_Silent_p.F409F|DYRK3_ENST00000367108.3_Silent_p.F389F|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 409 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) AGCCTCTCTTCCCTGGAGAGG 0.488000 46 121 0 0 1 0 0 OR52W1 120787 broad.mit.edu 37 11 6221330 6221330 + Missense_Mutation SNP C C A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:6221330C>A ENST00000311352.2 + 1 955 c.877C>A c.(877-879)Ctc>Atc p.L293I NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACCTGCCCTCAACCCCCT 0.532000 5 297 0.217242 0.218953 1 1 0 TMUB2 79089 broad.mit.edu 37 17 42268225 42268225 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:42268225G>A ENST00000319511.6 + 3 1549 c.899G>A c.(898-900)gGa>gAa p.G300E TMUB2_ENST00000587989.1_Missense_Mutation_p.G320E|TMUB2_ENST00000538716.2_Missense_Mutation_p.G320E|TMUB2_ENST00000446571.3_Missense_Mutation_p.G263E|TMUB2_ENST00000357984.3_Missense_Mutation_p.G300E|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.G300E|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589184.1_3'UTR NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 320 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GGGATGTATGGACGATAAGGA 0.527000 44 112 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511283 195511283 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:195511283C>T ENST00000463781.3 - 2 7627 c.7168G>A c.(7168-7170)Gct>Act p.A2390T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2390T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 148 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A2390T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGAGGAAGCGTCGGTGACA 0.592000 3 10 0 0 1 0 0 SLC39A10 57181 broad.mit.edu 37 2 196573523 196573523 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr2:196573523C>T ENST00000409086.3 + 5 1805 c.1530C>T c.(1528-1530)atC>atT p.I510I SLC39A10_ENST00000359634.5_Silent_p.I510I|SLC39A10_ENST00000541054.1_Silent_p.I60I NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 510 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TGCTATTTATCATTGAACACT 0.284000 17 41 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152831401 152831401 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:152831401G>A ENST00000367255.5 - 8 1109 c.508C>T c.(508-510)Cgg>Tgg p.R170W SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 170 Actin-binding. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.R170W(7) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTCACCTTCCGTTTACTTGGT 0.483000 HNSCC(10;0.0054) 37 48 0 0 1 0 0 SLC25A51 92014 broad.mit.edu 37 9 37888412 37888412 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr9:37888412C>T ENST00000377716.2 - 3 879 c.136G>A c.(136-138)Gca>Aca p.A46T SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T Q9H1U9 MCAR1_HUMAN solute carrier family 25, member 51 46 transport integral to membrane|mitochondrial inner membrane AATGTGATTGCGACATTGTTG 0.408000 12 86 0 0 1 0 0 RAP1A 5906 broad.mit.edu 37 1 112234017 112234017 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:112234017G>A ENST00000369709.3 + 2 214 c.35G>A c.(34-36)gGa>gAa p.G12E RAP1A_ENST00000436150.2_Missense_Mutation_p.G12E|RAP1A_ENST00000356415.1_Missense_Mutation_p.G12E|RAP1A_ENST00000545460.1_Missense_Mutation_p.G12E|RAP1A_ENST00000494982.1_3'UTR NM_002884.2 NP_002875.1 P62834 RAP1A_HUMAN RAP1A, member of RAS oncogene family 12 activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion cytosol|plasma membrane GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021) Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141) CTTGGTTCAGGAGGCGTTGGG 0.368000 16 13 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57953359 57953359 + Missense_Mutation SNP T T A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr19:57953359T>A ENST00000334181.4 + 2 372 c.122T>A c.(121-123)tTt>tAt p.F41Y AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TTGGAGAACTTTGCGCTTTTG 0.458000 9 224 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15472610 15472610 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr19:15472610C>G ENST00000269701.2 - 11 1386 c.1326G>C c.(1324-1326)aaG>aaC p.K442N NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 442 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 TCTCAATTTTCTTATTTCTGT 0.453000 26 21 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612304 44612304 + Nonsense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:44612304C>T ENST00000273320.3 + 6 2131 c.1702C>T c.(1702-1704)Cga>Tga p.R568* ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.R568*|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 p.R568*(1) ATGTCTTATTCGACATCAGAG 0.433000 47 44 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28547289 28547289 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:28547289C>T ENST00000357727.2 + 4 615 c.225C>T c.(223-225)ttC>ttT p.F75F CREB5_ENST00000396299.2_Silent_p.F42F|CREB5_ENST00000396300.2_Silent_p.F68F|CREB5_ENST00000409603.1_Silent_p.F42F NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 75 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 TGGGCCTCTTCAGCGAGCTGG 0.542000 78 104 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290899 141290899 + Missense_Mutation SNP C C G TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chrX:141290899C>G ENST00000247452.3 - 3 1222 c.875G>C c.(874-876)aGt>aCt p.S292T NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 292 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TGGAGGAGAACTGTGGGGCAC 0.498000 HNSCC(46;0.14) 24 59 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24561546 24561546 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr22:24561546C>T ENST00000398319.2 + 31 5344 c.4959C>T c.(4957-4959)ttC>ttT p.F1653F CABIN1_ENST00000263119.5_Silent_p.F1653F|CABIN1_ENST00000337989.7_Silent_p.F78F|CABIN1_ENST00000405822.2_Silent_p.F1574F NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1653 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGCGGGCCTTCATCCTCACTG 0.602000 27 9 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956357 16956357 + RNA SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:16956357C>T ENST00000412962.1 - 0 294 tggggtttcaccatgttggcc 0.532000 3 7 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229150 21229150 + Silent SNP C C A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr2:21229150C>A ENST00000233242.1 - 26 10717 c.10590G>T c.(10588-10590)gtG>gtT p.V3530V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3530 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CCTGCAGCTTCACTGAAGACC 0.443000 67 68 3.13743e-37 3.52273e-37 1 1 0 CDH16 1014 broad.mit.edu 37 16 66944333 66944333 + Missense_Mutation SNP G G C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr16:66944333G>C ENST00000299752.4 - 15 2190 c.1997C>G c.(1996-1998)aCt>aGt p.T666S CDH16_ENST00000565796.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.T644S|CDH16_ENST00000570262.1_Missense_Mutation_p.T586S|CDH16_ENST00000568632.1_Missense_Mutation_p.T569S NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 666 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGGGCAAGAGTCAGGGCTGG 0.637000 50 35 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080396 152080396 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:152080396C>T ENST00000368804.1 - 2 5296 c.5297G>A c.(5296-5298)cGc>cAc p.R1766H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1766 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCGCTCCTGGCGGCGCAGCTG 0.587000 19 82 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42374009 42374009 + Silent SNP G G C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr15:42374009G>C ENST00000290472.3 - 10 901 c.807C>G c.(805-807)ctC>ctG p.L269L NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 269 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CCTCTGCCTTGAGCTGCAGCC 0.587000 57 83 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839350 62839350 + Silent SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr20:62839350G>A ENST00000536311.1 + 7 1165 c.801G>A c.(799-801)gaG>gaA p.E267E MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 267 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaggaagaggagg 0.577000 3 25 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 64 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71823359 71823359 + Silent SNP C C A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr16:71823359C>A ENST00000299980.4 - 2 465 c.24G>T c.(22-24)cgG>cgT p.R8R AP1G1_ENST00000569748.1_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R31R|AP1G1_ENST00000423132.2_Silent_p.R8R|AP1G1_ENST00000393512.3_Silent_p.R8R|AP1G1_ENST00000570297.1_5'UTR NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 8 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GGATCAGCTCCCGCAATCTGA 0.453000 12 26 6.53275e-17 7.20855e-17 1 1 0 OR5L1 219437 broad.mit.edu 37 11 55579557 55579557 + Silent SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:55579557G>A ENST00000333973.2 + 1 704 c.615G>A c.(613-615)ttG>ttA p.L205L NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TGGCCACTTTGAATGAGAGTG 0.468000 16 104 0 0 1 0 0 PTCRA 171558 broad.mit.edu 37 6 42890923 42890923 + Missense_Mutation SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr6:42890923G>A ENST00000304672.1 + 2 298 c.217G>A c.(217-219)Gcc>Acc p.A73T PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.A48T NM_001243168.1|NM_138296.2 NP_001230097.1|NP_612153.2 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha 73 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) TGCACTGGATGCCTTCACCTA 0.602000 16 134 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66361138 66361138 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr4:66361138C>T ENST00000273854.3 - 4 1634 c.1034G>A c.(1033-1035)aGa>aAa p.R345K EPHA5_ENST00000511294.1_Missense_Mutation_p.R345K|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345K|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 345 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATCAGACTCTCTCCTGAAATA 0.473000 TSP Lung(17;0.13) 30 83 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G T rs28934573 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:7577559G>T ENST00000420246.2 - 7 854 c.722C>A c.(721-723)tCc>tAc p.S241Y TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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) GCCCATGCAGGAACTGTTACA 0.572000 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) 26 24 4.22769e-11 4.62517e-11 1 1 0 MFN1 55669 broad.mit.edu 37 3 179095162 179095162 + Nonsense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:179095162C>T ENST00000471841.1 + 12 1381 c.1255C>T c.(1255-1257)Cga>Tga p.R419* MFN1_ENST00000280653.7_Nonsense_Mutation_p.R419*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.R419* NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 419 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TGAAATTTGTCGACTGTCTGT 0.234000 8 49 0 0 1 0 0 CHRNA2 0 broad.mit.edu 37 8 27321250 27321250 + Missense_Mutation SNP G G A rs140350483 byFrequency TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr8:27321250G>A ENST00000407991.1 - 6 1318 c.710C>T c.(709-711)aCg>aTg p.T237M CHRNA2_ENST00000240132.2_Missense_Mutation_p.T222M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.T237M NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 237 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GTAGGTGCCCGTGGCATTGAC 0.592000 29 35 0 0 1 0 0 TRGV2 0 broad.mit.edu 37 7 38403015 38403015 + RNA SNP G G A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:38403015G>A ENST00000426402.2 - 0 104 CACTCAACAAGGAAGTGATCC 0.527000 4 31 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138280 32138280 + Missense_Mutation SNP C C T TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr12:32138280C>T ENST00000312561.4 + 4 4805 c.4391C>T c.(4390-4392)tCg>tTg p.S1464L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.S1464L(1) AATAAAGCATCGAAGAAAATC 0.373000 5 67 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523240 92523240 + Missense_Mutation SNP G G C TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr11:92523240G>C ENST00000298047.6 + 7 4484 c.4467G>C c.(4465-4467)gaG>gaC p.E1489D FAT3_ENST00000525166.1_Missense_Mutation_p.E1339D|FAT3_ENST00000409404.2_Missense_Mutation_p.E1489D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1489 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATAGAGATGAGAAGCACAAGC 0.493000 TCGA Ovarian(4;0.039) 42 114 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945182 16945184 + RNA DEL AAT AAT - rs59197507 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:16945182_16945184delAAT ENST00000412962.1 - 0 2335_2337 TACTGATGAAAATAATAACAGAT 0.325 3 5 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17035376 17035377 + RNA INS - - CA rs143082525 by1000genomes TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr1:17035376_17035377insCA ENST00000492551.1 - 0 194 NR_026567.1 gcatgacctgtcatgcttggtt 0.559 3 6 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195447912 195447914 + In_Frame_Del DEL TTC TTC - TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr3:195447912_195447914delTTC ENST00000320736.6 + 1 160_162 c.34_36delTTC c.(34-36)del p.F14del MUC20_ENST00000485430.1_3'UTR|MUC20_ENST00000447234.2_In_Frame_Del_p.F14del|MUC20_ENST00000436408.1_In_Frame_Del_p.F14del NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 14 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCTGCCCCTTTTCTTCTTCTGCT 0.611 5 10 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97736519 97736521 + In_Frame_Del DEL GCT GCT - TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr7:97736519_97736521delGCT ENST00000297293.5 + 1 323_325 c.30_32delGCT c.(28-33)agg>ag p.RL10del NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 10 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TGCGGCGGAGGCTGCTGCTGCTG 0.764 3 3 --- --- --- --- KAT6A 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr8:41798420_41798422delCTC ENST00000396930.3 - 16 3520_3522 c.2977_2979delGAG c.(2977-2979)del p.E993del KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding GGCTTTCCGGCTCCTCCTCCTCC 0.567 9 448 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145000951 145000953 + Splice_Site DEL CCT CCT - TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr8:145000951_145000953delCCT ENST00000322810.4 - 30 4623_4625 c.4455_splice c.e30+1 p.G1485_splice PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1485 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGGCTGTACCTCCTCCTCCTC 0.621 8 286 --- --- --- --- KLF6 1316 broad.mit.edu 37 10 3822356 3822356 + Frame_Shift_Del DEL T T - TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr10:3822356delT ENST00000497571.1 - 3 1002 c.742delA c.(742-744)ccfs p.T248fs KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 248 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) AAGTGCCTGGTTAACTCATCA 0.552 40 44 --- --- --- --- PROSER1 80209 broad.mit.edu 37 13 39608335 39608336 + Splice_Site INS - - A TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr13:39608335_39608336insA ENST00000352251.3 - 2 879 c.e2-2 PROSER1_ENST00000350125.3_Intron NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 p.?(1) CAAAACAGCCTAAAAAAAAAAA 0.327 9 37 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25462047 25462053 + RNA DEL TGTCCTG TGTCCTG - rs148415821 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr15:25462047_25462053delTGTCCTG ENST00000424208.1 + 0 2739 NR_003305.1 TTGATGGCCCTGTCCTGTGTCCTGTGC 0.638 3 4 --- --- --- --- LINC00854 0 broad.mit.edu 37 17 41381913 41381914 + RNA INS - - T rs11403368 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr17:41381913_41381914insT ENST00000433702.2 - 0 14 NR_047479.1 accctgatctatcatcgggagg 0.550 7 35 --- --- --- --- ZNF726 730087 broad.mit.edu 37 19 24118091 24118092 + Frame_Shift_Del DEL CT CT - TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr19:24118091_24118092delCT ENST00000322487.7 + 7 2117_2118 c.2032_2033delCT c.(2032-2034)cfs p.L678fs ZNF726_ENST00000334589.5_Intron|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Intron E9PLI7 E9PLI7_HUMAN zinc finger protein 726 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding TGGAGTAAAACTCTACAAATGT 0.381 8 7 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11093134 11093135 + RNA INS - - C rs141935972 TCGA-ND-A4W6-01A-11D-A28R-08 TCGA-ND-A4W6-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72a15de6-7832-4e02-a888-999ad45192ad 6ef05129-3199-4859-9ae4-e0b4d7558fd5 g.chr21:11093134_11093135insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) GTTCTCCCCTACCCCCCACAAC 0.401 7 10 --- --- --- ---