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 MECOM 2122 broad.mit.edu 37 3 168838969 168838969 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr3:168838969C>T ENST00000464456.1 - 6 1643 c.443G>A c.(442-444)cGg>cAg p.R148Q MECOM_ENST00000494292.1_Missense_Mutation_p.R336Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R148Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R149Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R148Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R213Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R148Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R149Q NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GCGAATGTGCCGCTGAAGGTT 0.517000 25 36 0 0 0.091800 0 0 POM121L9P 0 broad.mit.edu 37 22 24659512 24659512 + RNA SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr22:24659512A>G ENST00000414583.2 + 0 3037 NR_003714.1 TGCCTGGGCCATGGAGCACTC 0.473000 5 6 0 0 0.014758 0 0 SERPINB7 8710 broad.mit.edu 37 18 61449685 61449685 + Missense_Mutation SNP A A T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr18:61449685A>T ENST00000398019.2 + 2 404 c.79A>T c.(79-81)Aat>Tat p.N27Y SERPINB7_ENST00000540675.1_Missense_Mutation_p.N27Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N27Y|SERPINB7_ENST00000546027.1_Missense_Mutation_p.N27Y NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 27 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AGGAAATGGAAATGTGTTCTT 0.507000 34 76 0 0 0.064281 0 0 UNC5CL 222643 broad.mit.edu 37 6 41002808 41002808 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr6:41002808G>A ENST00000244565.3 - 2 94 c.6C>T c.(4-6)tgC>tgT p.C2C UNC5CL_ENST00000373164.1_Silent_p.C2C NM_173561.2 NP_775832.2 Q8IV45 UN5CL_HUMAN unc-5 homolog C (C. elegans)-like 2 signal transduction cytoplasm|integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TCTCCTGGGGGCACATTCGCC 0.602000 4 67 0 0 0.009096 0 0 EP400 57634 broad.mit.edu 37 12 132466657 132466657 + Silent SNP G G T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr12:132466657G>T ENST00000333577.4 + 6 1780 c.1671G>T c.(1669-1671)ccG>ccT p.P557P EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P Q96L91 EP400_HUMAN E1A binding protein p400 557 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCCCCACGCCGCAGGCCGCGC 0.592000 100 176 6.09681e-45 7.00598e-45 0.048971 1 0 BLK 640 broad.mit.edu 37 8 11414294 11414294 + Silent SNP C C T rs139994406 by1000genomes TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr8:11414294C>T ENST00000259089.4 + 9 1492 c.900C>T c.(898-900)taC>taT p.Y300Y BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.4_ENST00000528629.1_RNA NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 300 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity p.Y300Y(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TCCGACTCTACGCAGTGGTCA 0.617000 28 40 0 0 0.037714 0 0 LRFN5 145581 broad.mit.edu 37 14 42356700 42356700 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:42356700G>A ENST00000554171.1 + 5 3304 c.872G>A c.(871-873)cGt>cAt p.R291H LRFN5_ENST00000298119.4_Missense_Mutation_p.R291H|LRFN5_ENST00000554120.1_Missense_Mutation_p.R291H Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 291 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTCATTACTCGTCATACACAT 0.488000 HNSCC(30;0.082) 49 64 0 0 0.045515 0 0 GRM3 0 broad.mit.edu 37 7 86468867 86468867 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:86468867G>A ENST00000361669.2 + 4 3136 c.2037G>A c.(2035-2037)agG>agA p.R679R GRM3_ENST00000536043.1_Silent_p.R551R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.R271R NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 679 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCGCTCAGAGGCCAAAATTCA 0.547000 4 127 0 0 0.009096 0 0 MROH2B 133558 broad.mit.edu 37 5 41058282 41058282 + Translation_Start_Site SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr5:41058282G>A ENST00000506092.2 - 0 44 MROH2B_ENST00000399564.4_Silent_p.H213H maestro heat-like repeat family member 2B p.H213H(2) CCGTGGGCCCGTGGGCCTTAA 0.502000 13 22 0 0 0.105934 0 0 ZNF431 170959 broad.mit.edu 37 19 21366713 21366713 + Missense_Mutation SNP G G C TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:21366713G>C ENST00000311048.7 + 5 1751 c.1607G>C c.(1606-1608)aGa>aCa p.R536T ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 ATTCATACTAGACAGAAACCC 0.323000 32 78 0 0 0.050027 0 0 RP1 6101 broad.mit.edu 37 8 55538303 55538303 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr8:55538303G>A ENST00000220676.1 + 4 2009 c.1861G>A c.(1861-1863)Gga>Aga p.G621R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 621 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAATAACTCTGGAACTGACAA 0.373000 24 33 0 0 0.083992 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188296 32188296 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr6:32188296C>T ENST00000375023.3 - 6 1183 c.1045G>A c.(1045-1047)Ggc>Agc p.G349S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 349 EGF-like 8; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CAGCTTGTGCCGCCCCAGCCA 0.617000 44 87 0 0 0.042209 0 0 UBE2D4 51619 broad.mit.edu 37 7 43990260 43990260 + Missense_Mutation SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:43990260A>G ENST00000222402.2 + 6 456 c.367A>G c.(367-369)Ata>Gta p.I123V UBE2D4_ENST00000394798.4_Missense_Mutation_p.I85V|POLR2J4_ENST00000427076.1_RNA NM_015983.3 NP_057067.1 Q9Y2X8 UB2D4_HUMAN ubiquitin-conjugating enzyme E2D 4 (putative) 123 protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity endometrium(1)|large_intestine(2)|lung(1)|pancreas(1) 5 GGTGCCAGAGATAGCACACAC 0.572000 21 72 0 0 0.062417 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 55 0 0 0.009096 0 0 LMTK3 114783 broad.mit.edu 37 19 49000820 49000820 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:49000820C>T ENST00000600059.1 - 11 3733 c.3506G>A c.(3505-3507)aGg>aAg p.R1169K LMTK3_ENST00000270238.3_Missense_Mutation_p.R1198K lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CACCTCCGGCCTGGCTCTCGG 0.761000 5 19 0 0 0.021553 0 0 FLG2 388698 broad.mit.edu 37 1 152328212 152328212 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr1:152328212G>A ENST00000388718.5 - 3 2122 c.2050C>T c.(2050-2052)Cat>Tat p.H684Y FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 684 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGACTCATGTTGTCCAAAA 0.473000 206 326 0 0 0.048971 0 0 WNT11 7481 broad.mit.edu 37 11 75898143 75898143 + Missense_Mutation SNP C C A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:75898143C>A ENST00000322563.3 - 5 1155 c.1031G>T c.(1030-1032)tGt>tTt p.C344F NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 344 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding p.C344Y(2) breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 GGTACGCTCACACCTGCGGCA 0.642000 33 38 1.62565e-12 1.83586e-12 0.050027 1 0 CANT1 124583 broad.mit.edu 37 17 76991223 76991223 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:76991223C>T ENST00000302345.2 - 3 1206 c.712G>A c.(712-714)Ggt>Agt p.G238S CANT1_ENST00000591773.1_Missense_Mutation_p.G238S|CANT1_ENST00000392446.5_Missense_Mutation_p.G238S NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 238 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) ACCACATCACCCGTAGTGGTC 0.627000 T ETV4 prostate 18 24 0 0 0.033300 0 0 GPR27 2850 broad.mit.edu 37 3 71803791 71803791 + Silent SNP G G T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr3:71803791G>T ENST00000304411.2 + 1 591 c.591G>T c.(589-591)acG>acT p.T197T EIF4E3_ENST00000421769.2_Intron NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 197 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) TGGGCGCCACGCACCTCGTCT 0.746000 4 3 2.56e-06 2.84203e-06 0.009096 1 0 RNASEL 6041 broad.mit.edu 37 1 182544690 182544690 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr1:182544690G>A ENST00000367559.3 - 7 2316 c.2063C>T c.(2062-2064)cCt>cTt p.P688L RNASEL_ENST00000444138.1_Missense_Mutation_p.P688L NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 688 KEN. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 ATACAGGGAAGGGTCTCCAAT 0.398000 25 40 0 0 0.034045 0 0 VEPH1 79674 broad.mit.edu 37 3 156978935 156978935 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr3:156978935G>A ENST00000362010.2 - 14 2797 c.2490C>T c.(2488-2490)acC>acT p.T830T RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Silent_p.T785T|VEPH1_ENST00000392832.2_Silent_p.T830T|VEPH1_ENST00000392833.2_Silent_p.T785T NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 830 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACAGATATGTGGTTACTTCTC 0.408000 44 72 0 0 0.048971 0 0 FAM64A 54478 broad.mit.edu 37 17 6348675 6348675 + Missense_Mutation SNP T T C TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:6348675T>C ENST00000572447.1 + 2 354 c.245T>C c.(244-246)cTc>cCc p.L82P FAM64A_ENST00000572595.2_Missense_Mutation_p.L82P|FAM64A_ENST00000571373.1_Missense_Mutation_p.L82P|FAM64A_ENST00000570337.2_Missense_Mutation_p.L82P|FAM64A_ENST00000250056.8_Missense_Mutation_p.L82P|FAM64A_ENST00000576056.1_Missense_Mutation_p.L82P NM_019013.2 NP_061886.2 Q9BSJ6 FA64A_HUMAN family with sequence similarity 64, member A 82 nucleolus protein binding breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 COAD - Colon adenocarcinoma(228;0.141) CAGCAGGGCCTCCAGGCTGCA 0.577000 40 43 0 0 0.048971 0 0 IL4I1 259307 broad.mit.edu 37 19 50393077 50393077 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:50393077C>T ENST00000595948.1 - 10 2240 c.1620G>A c.(1618-1620)gaG>gaA p.E540E IL4I1_ENST00000341114.3_Silent_p.E540E|IL4I1_ENST00000391826.2_Silent_p.E518E NM_001258018.1 NP_001244947.1 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 518 lysosome L-amino-acid oxidase activity p.E540E(1) endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) ATGCGTGCCCCTCGGGGCTGG 0.687000 19 49 0 0 0.055883 0 0 BTN2A1 11120 broad.mit.edu 37 6 26463544 26463544 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr6:26463544G>A ENST00000429381.1 + 4 715 c.503G>A c.(502-504)aGa>aAa p.R168K BTN2A1_ENST00000469185.1_Missense_Mutation_p.R168K|BTN2A1_ENST00000541522.1_Missense_Mutation_p.R107K|BTN2A1_ENST00000312541.5_Missense_Mutation_p.R168K Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 168 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TGCATATCTAGAGGGTGGTAC 0.587000 49 72 0 0 0.048971 0 0 SHANK1 50944 broad.mit.edu 37 19 51175329 51175329 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:51175329G>A ENST00000293441.1 - 21 2638 c.2620C>T c.(2620-2622)Cgt>Tgt p.R874C SHANK1_ENST00000391814.1_Missense_Mutation_p.R882C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R865C|SHANK1_ENST00000391813.1_Missense_Mutation_p.R261C NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 874 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.R874C(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) AAAGAAGGACGCTCGTAACTT 0.577000 15 36 0 0 0.038395 0 0 ELTD1 64123 broad.mit.edu 37 1 79392754 79392754 + Silent SNP T T A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr1:79392754T>A ENST00000370742.3 - 8 963 c.900A>T c.(898-900)gtA>gtT p.V300V NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 300 V -> L (in dbSNP:rs12754818). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCTTATAATATACAAATGCAA 0.274000 24 44 0 0 0.083992 0 0 TXLNG2P 0 broad.mit.edu 37 Y 21759464 21759464 + RNA SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chrY:21759464A>G ENST00000253320.4 + 0 4545 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 GTCAGAATGTATCTGTTTTCT 0.338000 9 1 0 0 0.047766 0 0 COL6A3 1293 broad.mit.edu 37 2 238303658 238303658 + Missense_Mutation SNP T T C TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:238303658T>C ENST00000295550.4 - 3 733 c.281A>G c.(280-282)aAt>aGt p.N94S COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.N94S|COL6A3_ENST00000346358.4_Missense_Mutation_p.N94S|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 94 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACGATACGTATTTAACAGGAA 0.368000 36 49 0 0 0.069456 0 0 PTEN 5728 broad.mit.edu 37 10 89624305 89624305 + Splice_Site SNP T T G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr10:89624305T>G ENST00000371953.3 + 1 1436 c.79_splice c.e1+1 p.Y27_splice NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 27 Phosphatase tensin-type. Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(13)|p.Y27D(2)|p.Y27N(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGACTTGACCTGTATCCATTT 0.463000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 42 25 0 0 0.104719 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746149 77746149 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:77746149C>T ENST00000409088.3 - 3 1260 c.846G>A c.(844-846)ttG>ttA p.L282L LRRTM4_ENST00000409911.1_Silent_p.L283L|LRRTM4_ENST00000409282.1_Silent_p.L283L|LRRTM4_ENST00000409093.1_Silent_p.L282L|LRRTM4_ENST00000409884.1_Silent_p.L282L NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 282 integral to membrane p.L282F(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) AATCCAAATTCAATTTTTGTA 0.398000 15 12 0 0 0.020292 0 0 MYOF 26509 broad.mit.edu 37 10 95070355 95070355 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr10:95070355C>T ENST00000371501.4 - 52 6057 c.5935G>A c.(5935-5937)Gac>Aac p.D1979N MYOF_ENST00000358334.5_Missense_Mutation_p.D1966N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1969N|MYOF_ENST00000359263.4_Missense_Mutation_p.D1979N Q9NZM1 MYOF_HUMAN myoferlin 1979 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GGCCTCTCGTCGGCCTCCTTC 0.493000 39 15 0 0 0.048971 0 0 E4F1 1877 broad.mit.edu 37 16 2282496 2282496 + Missense_Mutation SNP C C T rs144383218 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr16:2282496C>T ENST00000301727.4 + 5 697 c.649C>T c.(649-651)Cgc>Tgc p.R217C E4F1_ENST00000565090.1_Missense_Mutation_p.R217C|E4F1_ENST00000564139.1_Missense_Mutation_p.R217C NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 217 Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 TCACAGCAGCCGCAAGGACCA 0.697000 14 19 0 0 0.028581 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 4 64 0 0 0.029380 0 0 KCNA4 3739 broad.mit.edu 37 11 30033223 30033223 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:30033223C>T ENST00000328224.6 - 2 2236 c.1003G>A c.(1003-1005)Gac>Aac p.D335N NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 335 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.D335N(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 AGATCCCTGTCGTCCCTAAAC 0.517000 40 50 0 0 0.092188 0 0 PRPF39 55015 broad.mit.edu 37 14 45583422 45583422 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:45583422G>A ENST00000355765.6 + 12 1964 c.1794G>A c.(1792-1794)ctG>ctA p.L598L NM_017922.3 NP_060392.3 Q86UA1 PRP39_HUMAN pre-mRNA processing factor 39 598 mRNA processing|RNA splicing nucleus binding breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1) 12 AAACACTCCTGAAAGAACAGG 0.318000 21 34 0 0 0.069288 0 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 3 26 0 0 0.004672 0 0 JPH3 57338 broad.mit.edu 37 16 87678021 87678021 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr16:87678021C>T ENST00000284262.2 + 2 782 c.540C>T c.(538-540)gaC>gaT p.D180D NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 180 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGCATCCCGACGCCTCTCCGG 0.697000 40 51 0 0 0.092188 0 0 LRP2 4036 broad.mit.edu 37 2 170034411 170034411 + Missense_Mutation SNP T T C TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:170034411T>C ENST00000263816.3 - 53 10580 c.10295A>G c.(10294-10296)aAg>aGg p.K3432R LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3432 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTTGTTTCCCTTTTCCACTGT 0.433000 3 268 0 0 0.004672 0 0 BLVRA 644 broad.mit.edu 37 7 43827558 43827558 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:43827558G>A ENST00000402924.1 + 4 231 c.68G>A c.(67-69)cGg>cAg p.R23Q BLVRA_ENST00000265523.4_Missense_Mutation_p.R23Q NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 23 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) GGCTCCGTGCGGATGAGGGAC 0.547000 4 215 0 0 0.009096 0 0 USH1C 10083 broad.mit.edu 37 11 17531254 17531254 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:17531254G>A ENST00000005226.7 - 18 1661 c.1662C>T c.(1660-1662)ccC>ccT p.P554P USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GAGTCTTGGGGGGATAGTAGA 0.632000 17 27 0 0 0.043863 0 0 VRK1 7443 broad.mit.edu 37 14 97326941 97326941 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:97326941G>A ENST00000216639.3 + 11 1086 c.937G>A c.(937-939)Gaa>Aaa p.E313K VRK1_ENST00000555067.1_3'UTR NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 313 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) AGACTACACTGAAAAACCTCT 0.323000 14 20 0 0 0.020292 0 0 ACER1 125981 broad.mit.edu 37 19 6312225 6312225 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:6312225G>A ENST00000301452.4 - 3 362 c.285C>T c.(283-285)ctC>ctT p.L95L NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 95 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 CACTGCCCAGGAGCCACAGGA 0.627000 40 102 0 0 0.092188 0 0 PCDHGA6 0 broad.mit.edu 37 5 140755693 140755693 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr5:140755693C>T ENST00000517434.1 + 1 2043 c.2043C>T c.(2041-2043)tcC>tcT p.S681S PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGAGCCCTCCGCCAAACCCA 0.682000 46 80 0 0 0.048971 0 0 GMDS 2762 broad.mit.edu 37 6 1961060 1961060 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr6:1961060C>T ENST00000380815.4 - 5 755 c.486G>A c.(484-486)gtG>gtA p.V162V GMDS_ENST00000530927.1_Silent_p.V132V NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 162 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GTATTTCCTGCACTTTCCCAT 0.498000 65 99 0 0 0.048971 0 0 PSKH2 85481 broad.mit.edu 37 8 87081703 87081703 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr8:87081703C>T ENST00000276616.2 - 1 223 c.149G>A c.(148-150)cGc>cAc p.R50H PSKH2_ENST00000517981.1_Intron NM_033126.1 NP_149117.1 Q96QS6 KPSH2_HUMAN protein serine kinase H2 50 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) GGCTCGGAAGCGAGCCACCTG 0.672000 11 19 0 0 0.093190 0 0 SDC1 6382 broad.mit.edu 37 2 20403920 20403920 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:20403920G>A ENST00000381150.1 - 4 671 c.281C>T c.(280-282)cCg>cTg p.P94L SDC1_ENST00000254351.4_Missense_Mutation_p.P94L|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.P94L NM_001006946.1 NP_001006947.1 P18827 SDC1_HUMAN syndecan 1 94 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTCTCCAGCCGGCAGGGTGGA 0.687000 45 95 0 0 0.039052 0 0 IL31RA 133396 broad.mit.edu 37 5 55178899 55178899 + Missense_Mutation SNP G G A rs142659639 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr5:55178899G>A ENST00000396834.1 + 7 921 c.425G>A c.(424-426)cGt>cAt p.R142H IL31RA_ENST00000447346.2_Missense_Mutation_p.R161H|IL31RA_ENST00000354961.4_Missense_Mutation_p.R142H|IL31RA_ENST00000490985.1_Missense_Mutation_p.R19H|IL31RA_ENST00000396836.2_Missense_Mutation_p.R161H|IL31RA_ENST00000359040.5_Missense_Mutation_p.R161H|IL31RA_ENST00000297015.3_Missense_Mutation_p.R19H NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 129 Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AAGATTTTCCGTGTGAAACCA 0.353000 35 63 0 0 0.064281 0 0 TTN 7273 broad.mit.edu 37 2 179498031 179498031 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:179498031C>T ENST00000589042.1 - 233 43193 c.42969G>A c.(42967-42969)aaG>aaA p.K14323K TTN_ENST00000359218.5_Silent_p.K5383K|TTN_ENST00000342992.6_Silent_p.K11755K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.K12682K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.K5450K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K5258K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12682 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTACAGAGGCTTTTCCACTT 0.403000 68 100 0 0 0.048971 0 0 RPL12P38 0 broad.mit.edu 37 17 58511145 58511145 + RNA SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:58511145C>T ENST00000588627.1 - 0 2212 ATGAGGGTGGCGGCCATCAAC 0.463000 15 24 0 0 0.028581 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171691 68171691 + Missense_Mutation SNP A A G rs150326473 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:68171691A>G ENST00000243457.3 + 2 894 c.511A>G c.(511-513)Atc>Gtc p.I171V KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171V NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 171 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) GGGCTGCATCATCGATGCTTT 0.483000 71 102 0 0 0.048971 0 0 NPLOC4 55666 broad.mit.edu 37 17 79526328 79526328 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:79526328G>A ENST00000331134.6 - 17 1999 c.1784C>T c.(1783-1785)cCa>cTa p.P595L NPLOC4_ENST00000572760.1_3'UTR|NPLOC4_ENST00000573876.1_3'UTR NM_017921.2 NP_060391.2 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 595 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GCCTGTGCCTGGCTGGTTCAT 0.672000 10 10 0 0 0.080935 0 0 DNAH7 56171 broad.mit.edu 37 2 196720560 196720560 + Missense_Mutation SNP T T A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:196720560T>A ENST00000312428.6 - 45 8670 c.8570A>T c.(8569-8571)cAa>cTa p.Q2857L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2857 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGCCTTCTTTTGTTTATTTAA 0.403000 140 216 0 0 0.048971 0 0 SAP130 79595 broad.mit.edu 37 2 128747195 128747195 + Missense_Mutation SNP C C A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:128747195C>A ENST00000357702.5 - 13 1932 c.1801G>T c.(1801-1803)Ggg>Tgg p.G601W SAP130_ENST00000259235.3_Missense_Mutation_p.G601W|SAP130_ENST00000259234.6_Missense_Mutation_p.G575W NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 601 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGCTGAAGCCCTTGTGTGTTG 0.512000 4 133 0.000602214 0.000662942 0.014758 1 0 WDR7 23335 broad.mit.edu 37 18 54424326 54424326 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr18:54424326G>A ENST00000254442.3 + 15 2713 c.2502G>A c.(2500-2502)tcG>tcA p.S834S WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.S834S NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 834 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GCACCGTATCGTTTGGCCTCT 0.493000 82 127 0 0 0.048971 0 0 OR4X2 119764 broad.mit.edu 37 11 48266712 48266712 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:48266712C>T ENST00000302329.3 + 1 105 c.57C>T c.(55-57)tgC>tgT p.C19C NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AGAGGGTTTGCTTTGTGATAT 0.448000 58 87 0 0 0.048971 0 0 SMAD1 4086 broad.mit.edu 37 4 146435947 146435947 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr4:146435947C>T ENST00000515385.1 + 2 724 c.182C>T c.(181-183)cCg>cTg p.P61L SMAD1_ENST00000394092.2_Missense_Mutation_p.P61L|SMAD1_ENST00000302085.4_Missense_Mutation_p.P61L|RP11-301H24.4_ENST00000513542.1_RNA Q15797 SMAD1_HUMAN SMAD family member 1 61 MH1. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) CCAGGGCAACCGAGTAACTGT 0.532000 27 38 0 0 0.091800 0 0 RNF112 7732 broad.mit.edu 37 17 19316707 19316707 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:19316707G>A ENST00000461366.1 + 5 918 c.703G>A c.(703-705)Ggg>Agg p.G235R RNF112_ENST00000580109.1_3'UTR NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 235 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CTTCTTGCTGGGGAAAGAAGG 0.627000 21 27 0 0 0.062417 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73048961 73048961 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr5:73048961G>A ENST00000545377.1 + 4 585 c.409G>A c.(409-411)Gtg>Atg p.V137M ARHGEF28_ENST00000437974.1_Missense_Mutation_p.V137M|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.V137M|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.V137M|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.V137M|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.V137M NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 TGAGGAGCTCGTGCTGGCTCT 0.567000 13 17 0 0 0.105934 0 0 DPY19L1 23333 broad.mit.edu 37 7 34978935 34978935 + Silent SNP T T A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:34978935T>A ENST00000310974.4 - 20 1842 c.1698A>T c.(1696-1698)gcA>gcT p.A566A NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 566 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 TGGGCCGAAGTGCAGAGAGCT 0.502000 36 90 0 0 0.086207 0 0 ZNF536 9745 broad.mit.edu 37 19 31040141 31040141 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:31040141C>T ENST00000355537.3 + 4 3762 c.3615C>T c.(3613-3615)ggC>ggT p.G1205G NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCAGCGATGGCGGGGACAGCC 0.597000 32 70 0 0 0.050027 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269789 150269789 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:150269789C>T ENST00000255945.2 + 3 806 c.631C>T c.(631-633)Cgc>Tgc p.R211C GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225C|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 211 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGATCCAGCGCGTGGTGAG 0.542000 53 113 0 0 0.048971 0 0 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C T rs149840192 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:55221822C>T ENST00000275493.2 + 7 1043 c.866C>T c.(865-867)gCc>gTc p.A289V EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.A289D(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 2177 104 0 0 0.048971 0 0 NAGLU 4669 broad.mit.edu 37 17 40695945 40695945 + Missense_Mutation SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:40695945A>G ENST00000225927.2 + 6 2022 c.1921A>G c.(1921-1923)Aac>Gac p.N641D RP11-400F19.8_ENST00000585572.1_RNA NM_000263.3 NP_000254.2 P54802 ANAG_HUMAN N-acetylglucosaminidase, alpha 641 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CTACGAGCAGAACAGCCGCTA 0.627000 9 9 0 0 0.047766 0 0 DGKD 8527 broad.mit.edu 37 2 234360660 234360660 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:234360660C>T ENST00000264057.2 + 18 2230 c.2218C>T c.(2218-2220)Cgc>Tgc p.R740C DGKD_ENST00000409813.3_Missense_Mutation_p.R696C NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 740 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) AGTCATCAGTCGCCTGTTAAT 0.493000 41 63 0 0 0.039052 0 0 LETM1 3954 broad.mit.edu 37 4 1824793 1824793 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr4:1824793C>T ENST00000302787.2 - 9 1694 c.1398G>A c.(1396-1398)ctG>ctA p.L466L NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 466 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GCGTGGCCTCCAGCTTGGCCT 0.632000 44 57 0 0 0.039052 0 0 LTBP2 4053 broad.mit.edu 37 14 74969480 74969480 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:74969480G>A ENST00000261978.4 - 34 5432 c.5046C>T c.(5044-5046)ccC>ccT p.P1682P LTBP2_ENST00000556690.1_Silent_p.P1638P NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1682 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CGGTGTCCTCGGGGCCCAGGT 0.632000 59 89 0 0 0.048971 0 0 IGHD 0 broad.mit.edu 37 14 106311716 106311716 + RNA SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:106311716C>T ENST00000390556.2 - 0 294 ACCTGGCCAGCGGAAGATCTC 0.627000 27 32 0 0 0.099896 0 0 RNF213 57674 broad.mit.edu 37 17 78354716 78354716 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:78354716C>T ENST00000582970.1 + 56 13869 c.13726C>T c.(13726-13728)Cca>Tca p.P4576S CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.P4625S|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.P2649S NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGGCTGCCCCCAGTGGTCTT 0.597000 139 237 0 0 0.048971 0 0 OR4X1 390113 broad.mit.edu 37 11 48286042 48286042 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:48286042C>T ENST00000320048.1 + 1 630 c.630C>T c.(628-630)ttC>ttT p.F210F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCAGTTTCTTCGTGCTGATGG 0.562000 30 39 0 0 0.045705 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382758 80382758 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr5:80382758C>T ENST00000265080.4 + 9 1443 c.1376C>T c.(1375-1377)aCg>aTg p.T459M RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 459 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ACCAGCCAAACGTTCATCCGC 0.532000 37 62 0 0 0.064281 0 0 MYH8 4626 broad.mit.edu 37 17 10297737 10297737 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:10297737C>T ENST00000403437.2 - 35 5089 c.4995G>A c.(4993-4995)cgG>cgA p.R1665R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1665 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCTCCTGGCCCCGGAGAGCAT 0.532000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 30 39 0 0 0.034045 0 0 CHRDL1 91851 broad.mit.edu 37 X 110002887 110002887 + Splice_Site SNP A A T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chrX:110002887A>T ENST00000218054.4 - 4 498 c.e4+1 CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000372045.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000434224.1_Splice_Site NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 AAATTGCTTTACCTGGGCAGC 0.473000 83 18 0 0 0.048971 0 0 DDX56 54606 broad.mit.edu 37 7 44608558 44608558 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:44608558G>A ENST00000258772.5 - 11 1433 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W DDX56_ENST00000431640.1_Missense_Mutation_p.R403W|DDX56_ENST00000485367.1_5'UTR NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 443 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding p.R443R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 CTTGCCTCCCGAATGGCCTGC 0.537000 66 191 0 0 0.048971 0 0 NDN 4692 broad.mit.edu 37 15 23932258 23932258 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr15:23932258G>A ENST00000331837.4 - 1 192 c.107C>T c.(106-108)gCg>gTg p.A36V NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 36 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TGCCAGGGTCGCGGACGGAGG 0.701000 Prader-Willi syndrome 11 15 0 0 0.069234 0 0 KEL 3792 broad.mit.edu 37 7 142655048 142655048 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:142655048G>A ENST00000355265.2 - 6 1012 c.538C>T c.(538-540)Cgc>Tgc p.R180C KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 180 R -> P (in KEL24 antigen). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCAGAGATGCGCCAGCCTCCA 0.517000 17 44 0 0 0.033300 0 0 VCAM1 7412 broad.mit.edu 37 1 101198155 101198155 + Silent SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr1:101198155A>G ENST00000294728.2 + 7 1808 c.1707A>G c.(1705-1707)acA>acG p.T569T VCAM1_ENST00000347652.2_Silent_p.T477T|VCAM1_ENST00000370115.1_Silent_p.T370T|VCAM1_ENST00000370119.4_Silent_p.T507T NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 569 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TAATTTCTACAAAAATGGAAG 0.458000 37 50 0 0 0.069456 0 0 DHRS2 10202 broad.mit.edu 37 14 24109024 24109024 + Missense_Mutation SNP G G A rs146408773 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:24109024G>A ENST00000250383.6 + 4 816 c.340G>A c.(340-342)Gtc>Atc p.V114I DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 92 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) CTGTGGGGGCGTCGACTTCCT 0.642000 33 40 0 0 0.064281 0 0 IRX1 79192 broad.mit.edu 37 5 3599597 3599597 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr5:3599597G>A ENST00000302006.3 + 2 587 c.535G>A c.(535-537)Gcc>Acc p.A179T CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CACCTGGTTCGCCAACGCGCG 0.622000 41 67 0 0 0.039052 0 0 COL14A1 7373 broad.mit.edu 37 8 121238908 121238908 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr8:121238908C>T ENST00000297848.3 + 16 2177 c.1907C>T c.(1906-1908)aCg>aTg p.T636M COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 636 Fibronectin type-III 5. T -> A (in dbSNP:rs56815167). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GATGAGGTGACGACAGACAGT 0.483000 23 39 0 0 0.069288 0 0 ZNF331 55422 broad.mit.edu 37 19 54074900 54074900 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:54074900G>A ENST00000253144.9 + 6 1385 c.52G>A c.(52-54)Gag>Aag p.E18K ZNF331_ENST00000449416.1_Missense_Mutation_p.E18K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E18K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E18K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E18K|ZNF331_ENST00000513265.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E18K NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CTTTTCTCAGGAGGAGTGGGC 0.517000 T ? follicular thyroid adenoma 183 475 0 0 0.048971 0 0 DOCK4 9732 broad.mit.edu 37 7 111634282 111634282 + Missense_Mutation SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:111634282A>G ENST00000428084.1 - 5 495 c.223T>C c.(223-225)Ttt>Ctt p.F75L DOCK4_ENST00000437633.1_Missense_Mutation_p.F75L|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 75 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ACCATTTCAAATTGTCTGTGA 0.308000 34 82 0 0 0.054565 0 0 COLEC12 81035 broad.mit.edu 37 18 346546 346546 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr18:346546G>A ENST00000400256.3 - 5 1283 c.1076C>T c.(1075-1077)aCg>aTg p.T359M NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 359 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GCTGGTCAGCGTCCGCAGGTG 0.473000 35 42 0 0 0.054565 0 0 MPO 4353 broad.mit.edu 37 17 56355470 56355470 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:56355470C>T ENST00000340482.3 - 6 1194 c.1018G>A c.(1018-1020)Gac>Aac p.D340N MPO_ENST00000225275.3_Missense_Mutation_p.D308N|MPO_ENST00000578493.1_5'UTR P05164 PERM_HUMAN myeloperoxidase 308 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GGGATGCAGTCGGCTTGGTTC 0.622000 34 66 0 0 0.074837 0 0 BZRAP1 9256 broad.mit.edu 37 17 56402928 56402928 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:56402928C>T ENST00000355701.3 - 4 1587 c.717G>A c.(715-717)agG>agA p.R239R BZRAP1_ENST00000268893.6_Intron|BZRAP1_ENST00000343736.4_Silent_p.R239R|BZRAP1-AS1_ENST00000579527.1_RNA NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 239 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTGCAGCTCCCTGCACTCCC 0.657000 25 26 0 0 0.099896 0 0 DUSP5 1847 broad.mit.edu 37 10 112262482 112262482 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr10:112262482G>A ENST00000369583.3 + 2 667 c.383G>A c.(382-384)gGa>gAa p.G128E NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 128 Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) TTTGTAGGGGGATATGAGACT 0.408000 42 19 0 0 0.111260 0 0 SYK 6850 broad.mit.edu 37 9 93606246 93606246 + Silent SNP G G A rs139401525 by1000genomes TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr9:93606246G>A ENST00000375754.4 + 2 214 c.66G>A c.(64-66)cgG>cgA p.R22R SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.R22R|SYK_ENST00000375751.4_Silent_p.R22R|SYK_ENST00000375746.1_Silent_p.R22R NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 22 SH2 1. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 ACATCACCCGGGAGGAGGCAG 0.632000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 10 16 0 0 0.058154 0 0 KCNK10 54207 broad.mit.edu 37 14 88652407 88652407 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:88652407G>A ENST00000340700.5 - 7 1540 c.1089C>T c.(1087-1089)caC>caT p.H363H KCNK10_ENST00000312350.5_Silent_p.H368H|KCNK10_ENST00000319231.5_Silent_p.H368H NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 363 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GCAGCTTATCGTGGATCTCCA 0.662000 21 19 0 0 0.055883 0 0 COL22A1 169044 broad.mit.edu 37 8 139895346 139895346 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr8:139895346C>T ENST00000303045.6 - 2 516 c.70G>A c.(70-72)Ggc>Agc p.G24S COL22A1_ENST00000435777.1_Missense_Mutation_p.G24S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 24 cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GCCTGGCAGCCGCCGCCCCCA 0.672000 HNSCC(7;0.00092) 3 7 0 0 0.014758 0 0 A2M 2 broad.mit.edu 37 12 9246146 9246146 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr12:9246146G>A ENST00000318602.7 - 18 2462 c.2155C>T c.(2155-2157)Cgc>Tgc p.R719C NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 719 Bait region.|Inhibitory. blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TGCACCAGGCGTGCATGGCCT 0.443000 23 22 0 0 0.069288 0 0 ITGAD 3681 broad.mit.edu 37 16 31405625 31405625 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr16:31405625G>A ENST00000389202.2 + 2 149 c.100G>A c.(100-102)Ggc>Agc p.G34S NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 34 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.G34C(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGATGCAGGCGGCTTTGGGCA 0.582000 18 42 0 0 0.043863 0 0 SIVA1 10572 broad.mit.edu 37 14 105222095 105222095 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:105222095C>T ENST00000329967.6 + 2 349 c.247C>T c.(247-249)Cgt>Tgt p.R83C SIVA1_ENST00000347067.5_Intron NM_006427.3 NP_006418.2 O15304 SIVA_HUMAN SIVA1, apoptosis-inducing factor 83 activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) GAGGGCTGCACGTGGGCAGAT 0.667000 16 25 0 0 0.028581 0 0 GJA3 2700 broad.mit.edu 37 13 20716908 20716908 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr13:20716908C>T ENST00000241125.3 - 2 696 c.520G>A c.(520-522)Gag>Aag p.E174K NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 174 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) GGCTTCAGCTCGAAGCCGTAC 0.597000 20 45 0 0 0.069288 0 0 FSCB 84075 broad.mit.edu 37 14 44975176 44975176 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr14:44975176C>T ENST00000340446.4 - 1 1306 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 339 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GGAGACTCTTCAGCTGATGGA 0.517000 41 77 0 0 0.092188 0 0 GREM2 64388 broad.mit.edu 37 1 240656344 240656344 + Silent SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr1:240656344G>A ENST00000318160.4 - 2 698 c.432C>T c.(430-432)ttC>ttT p.F144F NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 144 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) TCTTGAGTCGGAAGGGTGGGT 0.647000 38 58 0 0 0.042209 0 0 ZNF441 126068 broad.mit.edu 37 19 11890886 11890886 + Nonsense_Mutation SNP G G T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:11890886G>T ENST00000357901.4 + 4 349 c.247G>T c.(247-249)Gga>Tga p.G83* ZNF441_ENST00000454339.2_Nonsense_Mutation_p.G16* NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCAATGTGGAGGACCCTTTAC 0.383000 21 71 3.51602e-12 3.93674e-12 0.049695 1 0 CLUH 23277 broad.mit.edu 37 17 2600045 2600045 + Missense_Mutation SNP A A G TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr17:2600045A>G ENST00000570628.1 - 11 2144 c.2039T>C c.(2038-2040)cTg>cCg p.L680P CLUH_ENST00000435359.1_Missense_Mutation_p.L680P|CLUH_ENST00000575014.1_Missense_Mutation_p.L612P|CLUH_ENST00000538975.1_Missense_Mutation_p.L680P clustered mitochondria (cluA/CLU1) homolog GGTCTCTGCCAGCTCCTTCAC 0.672000 16 28 0 0 0.043863 0 0 CRYGB 1419 broad.mit.edu 37 2 209007511 209007511 + Missense_Mutation SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr2:209007511C>T ENST00000260988.4 - 3 426 c.379G>A c.(379-381)Gtg>Atg p.V127M NM_005210.3 NP_005201.2 P07316 CRGB_HUMAN crystallin, gamma B 127 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1) 14 Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132) CCCTCCAGCACATTGAGGGAG 0.542000 73 108 0 0 0.048971 0 0 RP11-707M1.1 0 broad.mit.edu 37 11 49598093 49598093 + RNA SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:49598093G>A ENST00000527477.1 + 0 697 AGGGATTCCTGCTGGCATTCG 0.522000 8 18 0 0 0.038147 0 0 DEAF1 10522 broad.mit.edu 37 11 686996 686996 + Splice_Site SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr11:686996G>A ENST00000382409.3 - 5 1150 c.664_splice c.e5-1 p.G222_splice DEAF1_ENST00000338675.6_Intron NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 222 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GTCCCCGGCCGCCTGCAAGGA 0.607000 7 49 0 0 0.069234 0 0 OR1M1 125963 broad.mit.edu 37 19 9204448 9204448 + Silent SNP C C T TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr19:9204448C>T ENST00000429566.3 + 1 594 c.528C>T c.(526-528)caC>caT p.H176H NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 AGGTGCCTCACTACTTCTGCG 0.572000 62 173 0 0 0.048971 0 0 ABCA4 24 broad.mit.edu 37 1 94486937 94486937 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr1:94486937G>A ENST00000370225.3 - 35 4963 c.4877C>T c.(4876-4878)gCc>gTc p.A1626V NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1626 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCTGACCAGGGCATGCCAGCC 0.517000 4 167 0 0 0.009096 0 0 EGFR 1956 broad.mit.edu 37 7 55225358 55225358 + Frame_Shift_Del DEL T T - TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr7:55225358delT ENST00000275493.2 + 11 1387 c.1210delT c.(1210-1212)ttfs p.F404fs EGFR_ENST00000455089.1_Frame_Shift_Del_p.F359fs|EGFR_ENST00000442591.1_Frame_Shift_Del_p.F404fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.F351fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.F404fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.F404fs NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 404 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCTTACAGGGTTTTTGCTGAT 0.448 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 2555 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76784946 76784949 + Frame_Shift_Del DEL ACAA ACAA - TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr10:76784946_76784949delACAA ENST00000287239.4 + 17 4092_4095 c.3603_3606delACAA c.(3601-3606)agfs p.RQ1201fs KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1201 histone H3 acetylation|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 factor binding|zinc ion binding GGAAGAAAAGACAAACAGAGGAAG 0.451 16 10 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- --- ASMTL-AS1 0 broad.mit.edu 37 X 1521443 1521445 + RNA DEL CCT CCT - TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx a1f89c84-3301-45a0-b0ad-ab80779f23d4 7da7cbb5-e882-4c6b-9da5-326ba7e9ca69 g.chrX:1521443_1521445delCCT ENST00000425740.2 + 0 415 ASMTL-AS1_ENST00000420411.2_RNA|ASMTL-AS1_ENST00000443929.1_RNA NR_026711.1 cervix(1)|endometrium(2)|lung(1) 4 GCCTCCTTTCCCTCCTCCTCCCC 0.586 2 4 --- --- --- ---