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 RTKN 6242 broad.mit.edu 37 2 74654585 74654585 + Nonsense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:74654585C>T ENST00000305557.5 - 11 1767 c.1182G>A c.(1180-1182)tgG>tgA p.W394* RTKN_ENST00000233330.6_Nonsense_Mutation_p.W357*|RTKN_ENST00000272430.5_Nonsense_Mutation_p.W407* NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 407 PH. apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 GAGCCTCCATCCAGCTCTGCA 0.502000 60 198 0 0 0.014410 0 0 PREX1 57580 broad.mit.edu 37 20 47266745 47266745 + Splice_Site SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr20:47266745C>T ENST00000396220.1 - 24 2840 c.e24-1 PREX1_ENST00000371941.3_Splice_Site Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGGCTGCAAACTGAGAAAGTG 0.592000 21 63 0 0 0.008871 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70960106 70960106 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr10:70960106G>A ENST00000359655.4 + 11 1429 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 457 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GAGAGAACTAGAACCAATCAC 0.413000 22 73 0 0 0.021523 0 0 FNDC4 64838 broad.mit.edu 37 2 27715571 27715571 + Nonsense_Mutation SNP C C A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:27715571C>A ENST00000264703.3 - 6 1022 c.631G>T c.(631-633)Gaa>Taa p.E211* NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 211 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) GGACTCTGTTCCGGCCCCTTT 0.552000 21 61 1.55795e-14 2.16849e-14 0.012319 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 12 0 0 0.009096 0 0 EGF 1950 broad.mit.edu 37 4 110866357 110866357 + Missense_Mutation SNP T T A rs139711858 TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr4:110866357T>A ENST00000265171.5 + 5 1311 c.866T>A c.(865-867)tTt>tAt p.F289Y EGF_ENST00000503392.1_Missense_Mutation_p.F289Y|EGF_ENST00000509793.1_Missense_Mutation_p.F289Y NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 289 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) CATTCATCATTTGTACCACTT 0.448000 9 28 0 0 0.006214 0 0 KCNF1 3754 broad.mit.edu 37 2 11053827 11053827 + Silent SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:11053827C>T ENST00000295082.1 + 1 1765 c.1275C>T c.(1273-1275)caC>caT p.H425H NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 425 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CGGCCAAGCACGAGCTGGAGC 0.632000 6 28 0 0 0.001168 0 0 DRAXIN 374946 broad.mit.edu 37 1 11766403 11766403 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr1:11766403C>T ENST00000294485.5 + 2 223 c.88C>T c.(88-90)Cct>Tct p.P30S NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein CGCCCTTGCACCTGGGACCCC 0.706000 6 19 0 0 0.001984 0 0 TMEM87B 84910 broad.mit.edu 37 2 112821764 112821764 + Silent SNP T T C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:112821764T>C ENST00000283206.4 + 3 621 c.252T>C c.(250-252)ccT>ccC p.P84P NM_032824.2 NP_116213.1 Q96K49 TM87B_HUMAN transmembrane protein 87B 84 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1) 19 GTTCTGGGCCTGTGAAGTTTA 0.308000 3 144 0 0 0.004672 0 0 ZNF157 7712 broad.mit.edu 37 X 47272940 47272940 + Missense_Mutation SNP A A G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chrX:47272940A>G ENST00000377073.3 + 4 1554 c.1468A>G c.(1468-1470)Aga>Gga p.R490G NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 490 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AGAACATCAGAGAACTCACAT 0.488000 14 46 0 0 0.003163 0 0 PCDH17 27253 broad.mit.edu 37 13 58299273 58299273 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr13:58299273C>T ENST00000377918.3 + 4 3351 c.3325C>T c.(3325-3327)Cgg>Tgg p.R1109W NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1109 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.R1109W(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGAGCCAGCCGGGATTCCAG 0.522000 6 203 0 0 0.001984 0 0 RGMB 285704 broad.mit.edu 37 5 98115428 98115428 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr5:98115428G>A ENST00000308234.7 + 4 806 c.404G>A c.(403-405)cGa>cAa p.R135Q RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.R94Q NM_001012761.2 NP_001012779.2 Q6NW40 RGMB_HUMAN repulsive guidance molecule family member b 94 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 10 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TGCACCCAGCGAACTTCAAAA 0.542000 11 89 0 0 0.008291 0 0 CLN6 54982 broad.mit.edu 37 15 68503628 68503628 + Missense_Mutation SNP T T A rs121908079 TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr15:68503628T>A ENST00000249806.5 - 5 672 c.515A>T c.(514-516)tAt>tTt p.Y172F CLN6_ENST00000566347.1_Missense_Mutation_p.Y109F|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000564752.1_Missense_Mutation_p.M181L|CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.Y204F NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 172 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GTACTCATCATAATAGTAGAG 0.602000 24 65 0 0 0.004656 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117351760 117351760 + Missense_Mutation SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr7:117351760C>G ENST00000160373.3 - 23 4914 c.4823G>C c.(4822-4824)aGa>aCa p.R1608T CFTR_ENST00000429014.1_Intron NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1608 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGATTTAACTCTTGAAACACC 0.423000 3 71 0 0 0.014758 0 0 KDR 3791 broad.mit.edu 37 4 55964338 55964338 + Missense_Mutation SNP G G T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr4:55964338G>T ENST00000263923.4 - 17 2770 c.2475C>A c.(2473-2475)agC>agA p.S825R NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 825 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ATTCCCATTTGCTGGCATCAT 0.453000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 14 60 6.31663e-08 8.44951e-08 0.003163 1 0 CD2AP 23607 broad.mit.edu 37 6 47501441 47501441 + Missense_Mutation SNP T T G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr6:47501441T>G ENST00000359314.5 + 3 725 c.269T>G c.(268-270)cTt>cGt p.L90R NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 90 Interaction with ANLN and localization to the midbody. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ACCTATGGACTTCCAGCTGGA 0.383000 7 20 0 0 0.001984 0 0 TEX11 56159 broad.mit.edu 37 X 69826836 69826836 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chrX:69826836C>T ENST00000395889.2 - 24 2123 c.1968G>A c.(1966-1968)atG>atA p.M656I TEX11_ENST00000374333.2_Missense_Mutation_p.M641I|TEX11_ENST00000344304.3_Missense_Mutation_p.M656I|TEX11_ENST00000374320.2_Missense_Mutation_p.M331I NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 656 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AAAACTCTCTCATCATCACTG 0.318000 3 30 0 0 0.009096 0 0 GALNT5 11227 broad.mit.edu 37 2 158140861 158140861 + Missense_Mutation SNP G G C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:158140861G>C ENST00000259056.4 + 2 2007 c.1522G>C c.(1522-1524)Gtg>Ctg p.V508L NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 508 Catalytic subdomain A. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 TGTGGATGAAGTGTGGTCCAC 0.488000 21 59 0 0 0.014323 0 0 ZNF300 91975 broad.mit.edu 37 5 150275429 150275429 + Missense_Mutation SNP C C A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr5:150275429C>A ENST00000446148.2 - 7 1847 c.1420G>T c.(1420-1422)Gtt>Ttt p.V474F ZNF300_ENST00000394226.2_Missense_Mutation_p.V458F|ZNF300_ENST00000274599.5_Missense_Mutation_p.V458F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.V422F NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGTATGAACTAACTGATGT 0.398000 9 44 0.000274275 0.000353129 0.004482 1 0 ZBTB33 10009 broad.mit.edu 37 X 119388597 119388597 + Missense_Mutation SNP G G C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chrX:119388597G>C ENST00000326624.2 + 2 1555 c.1327G>C c.(1327-1329)Gat>Cat p.D443H ZBTB33_ENST00000557385.1_Missense_Mutation_p.D443H NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 443 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGATACTTATGATATAGTGAT 0.413000 13 85 0 0 0.016723 0 0 KMT2D 8085 broad.mit.edu 37 12 49434776 49434776 + Missense_Mutation SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr12:49434776C>G ENST00000301067.7 - 31 6776 c.6777G>C c.(6775-6777)gaG>gaC p.E2259D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCCCAGGGCTCTCAGGCACAG 0.637000 6 77 0 0 0.001168 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Splice_Site SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr9:21971208C>T ENST00000579755.1 - 2 486 c.e2-1 CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 6 0 0 0.004482 0 0 PCED1A 64773 broad.mit.edu 37 20 2816812 2816812 + Silent SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr20:2816812C>T ENST00000360652.2 - 7 1492 c.990G>A c.(988-990)caG>caA p.Q330Q PCED1A_ENST00000356872.3_Silent_p.Q279Q NM_022760.3 NP_073597.2 PC-esterase domain containing 1A gtggcgagggctgaggaagcg 0.607000 12 40 0 0 0.010729 0 0 PDHA1 5160 broad.mit.edu 37 X 19373621 19373621 + Splice_Site SNP G G C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chrX:19373621G>C ENST00000379806.5 + 8 1017 c.873_splice c.e8+1 p.R291_splice PDHA1_ENST00000422285.2_Splice_Site_p.R253_splice|PDHA1_ENST00000545074.1_Splice_Site_p.R260_splice|PDHA1_ENST00000540249.1_Splice_Site_p.R222_splice NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 253 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) CCTGGGCTGAGAGTAAGGACA 0.512000 8 126 0 0 0.003080 0 0 SLC7A7 9056 broad.mit.edu 37 14 23243214 23243214 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr14:23243214C>T ENST00000397532.3 - 9 1882 c.1357G>A c.(1357-1359)Ggc>Agc p.G453S SLC7A7_ENST00000397528.4_Missense_Mutation_p.G453S|SLC7A7_ENST00000555702.1_Missense_Mutation_p.G453S|SLC7A7_ENST00000554517.1_Missense_Mutation_p.G187S|SLC7A7_ENST00000397529.2_Missense_Mutation_p.G453S|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000285850.7_Missense_Mutation_p.G453S Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 453 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) AAGGGCAGGCCTGAGAGGGCA 0.522000 15 45 0 0 0.006122 0 0 GIPC1 10755 broad.mit.edu 37 19 14591280 14591280 + Silent SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr19:14591280G>A ENST00000393033.4 - 6 761 c.492C>T c.(490-492)agC>agT p.S164S GIPC1_ENST00000345425.2_Silent_p.S164S|GIPC1_ENST00000393028.1_Silent_p.S67S|GIPC1_ENST00000586027.1_Silent_p.S164S|GIPC1_ENST00000393029.3_Silent_p.S67S|GIPC1_ENST00000591349.1_Silent_p.S67S NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 164 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GGTCGATCACGCTGCCCTCCT 0.682000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 67 0 0 0.014758 0 0 NHS 4810 broad.mit.edu 37 X 17710476 17710476 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chrX:17710476G>A ENST00000380060.3 + 3 1078 c.740G>A c.(739-741)cGc>cAc p.R247H NHS_ENST00000398097.3_Missense_Mutation_p.R70H NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 247 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CGGAGCGATCGCCGAGAGCAA 0.527000 28 65 0 0 0.007291 0 0 C4orf21 55345 broad.mit.edu 37 4 113533743 113533743 + Splice_Site SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr4:113533743C>G ENST00000505019.1 - 7 2729 c.2602_splice c.e7-1 p.V868_splice C4orf21_ENST00000309071.5_Splice_Site_p.V868_splice|C4orf21_ENST00000445203.2_Splice_Site_p.V837_splice NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 868 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATGGTTTCCTCACTGTAATGG 0.284000 5 27 0 0 0.014758 0 0 PCDHB17P 54661 broad.mit.edu 37 5 140536957 140536957 + Missense_Mutation SNP G G T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr5:140536957G>T ENST00000539533.1 + 1 1381 c.1381G>T c.(1381-1383)Gtc>Ttc p.V461F CACCCTGTTCGTCCGCGAGAA 0.622000 23 137 2.21704e-12 3.00467e-12 0.016522 1 0 CSMD3 114788 broad.mit.edu 37 8 113349858 113349858 + Missense_Mutation SNP G G T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr8:113349858G>T ENST00000297405.5 - 43 6999 c.6755C>A c.(6754-6756)cCa>cAa p.P2252Q CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2252 Sushi 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTGTATCCTGGGAAACATTC 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 106 0.00024832 0.000323759 0.009096 1 0 EYA1 2138 broad.mit.edu 37 8 72267106 72267106 + Missense_Mutation SNP C C T rs74720958 by1000genomes TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr8:72267106C>T ENST00000340726.3 - 3 674 c.35G>A c.(34-36)cGt>cAt p.R12H EYA1_ENST00000388742.4_Missense_Mutation_p.R12H|EYA1_ENST00000303824.7_Missense_Mutation_p.R12H|EYA1_ENST00000388743.2_Missense_Mutation_p.R12H|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.R12H|EYA1_ENST00000388740.3_Intron NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 12 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ACCACTCAGACGGCTATGCGG 0.458000 51 125 0 0 0.014410 0 0 RNF19A 25897 broad.mit.edu 37 8 101299799 101299799 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr8:101299799C>T ENST00000519449.1 - 3 920 c.604G>A c.(604-606)Gaa>Aaa p.E202K RNF19A_ENST00000341084.2_Missense_Mutation_p.E202K NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 202 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) ATAAATTCTTCGTATTTTTCC 0.388000 7 96 0 0 0.001984 0 0 AHDC1 27245 broad.mit.edu 37 1 27874932 27874932 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr1:27874932C>T ENST00000374011.2 - 6 4663 c.3695G>A c.(3694-3696)gGc>gAc p.G1232D AHDC1_ENST00000247087.5_Missense_Mutation_p.G1232D|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1232 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CCGTCCACGGCCCGGCTTGGA 0.607000 8 25 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr17:7577568C>A ENST00000420246.2 - 7 845 c.713G>T c.(712-714)tGt>tTt p.C238F TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 238 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAACTGTTACACATGTAGTT 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 48 5.60225e-13 7.69376e-13 0.009535 1 0 LMO7 4008 broad.mit.edu 37 13 76419476 76419476 + Missense_Mutation SNP T T C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr13:76419476T>C ENST00000357063.3 + 27 5527 c.4267T>C c.(4267-4269)Tct>Cct p.S1423P LMO7_ENST00000377534.3_Missense_Mutation_p.S1423P|LMO7_ENST00000341547.4_Missense_Mutation_p.S1089P|LMO7_ENST00000526202.1_Missense_Mutation_p.S1015P|LMO7_ENST00000465261.2_Missense_Mutation_p.S1138P|LMO7_ENST00000321797.8_Missense_Mutation_p.S1138P Q8WWI1 LMO7_HUMAN LIM domain 7 1423 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TAAATCCAGATCTACTACTGA 0.313000 6 16 0 0 0.001984 0 0 AFAP1 60312 broad.mit.edu 37 4 7774605 7774605 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr4:7774605G>A ENST00000420658.1 - 16 2467 c.2195C>T c.(2194-2196)gCg>gTg p.A732V AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A648V|AFAP1_ENST00000360265.4_Missense_Mutation_p.A648V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A732V NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 652 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GACTCCGCCCGCCAGCGCTTT 0.657000 4 35 0 0 0.014758 0 0 SEMA7A 8482 broad.mit.edu 37 15 74709052 74709052 + Missense_Mutation SNP G G C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr15:74709052G>C ENST00000261918.4 - 7 1213 c.665C>G c.(664-666)cCa>cGa p.P222R SEMA7A_ENST00000543145.2_Missense_Mutation_p.P208R|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P57R NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 222 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 GATGAACTGTGGGTCTGCCAG 0.567000 22 84 0 0 0.021523 0 0 LIMK1 3984 broad.mit.edu 37 7 73523259 73523259 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr7:73523259C>T ENST00000418310.1 + 10 1369 c.1267C>T c.(1267-1269)Cac>Tac p.H423Y LIMK1_ENST00000538333.3_Missense_Mutation_p.H359Y|LIMK1_ENST00000336180.2_Missense_Mutation_p.H393Y P53667 LIMK1_HUMAN LIM domain kinase 1 393 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) ATGCCTGGAACACCCCAACGT 0.587000 18 36 0 0 0.007413 0 0 PTGS2 5743 broad.mit.edu 37 1 186648488 186648488 + Silent SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr1:186648488G>A ENST00000367468.5 - 2 271 c.135C>T c.(133-135)acC>acT p.T45T PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 45 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) ATCCTGTCCGGGTACAATCGC 0.443000 19 30 0 0 0.012319 0 0 LIN54 132660 broad.mit.edu 37 4 83849335 83849335 + Missense_Mutation SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr4:83849335C>G ENST00000340417.3 - 13 2547 c.2170G>C c.(2170-2172)Gag>Cag p.E724Q LIN54_ENST00000510557.1_Missense_Mutation_p.E503Q|LIN54_ENST00000506560.1_Missense_Mutation_p.E635Q|LIN54_ENST00000505397.1_Missense_Mutation_p.E724Q|LIN54_ENST00000446851.2_Missense_Mutation_p.E503Q|LIN54_ENST00000442461.2_Missense_Mutation_p.E503Q|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.E635Q|LIN54_ENST00000505905.1_5'UTR NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 724 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CCGAATTCCTCAAGTATCATC 0.468000 4 76 0 0 0.001168 0 0 SNHG5 387066 broad.mit.edu 37 6 86387071 86387071 + RNA SNP A A C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr6:86387071A>C ENST00000384338.1 - 0 15 NR_002743.2 GGTTCGGGATAAGATCATCAC 0.343000 4 41 0 0 0.014758 0 0 RBM34 23029 broad.mit.edu 37 1 235324259 235324259 + Silent SNP G G C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr1:235324259G>C ENST00000408888.3 - 2 407 c.177C>G c.(175-177)ctC>ctG p.L59L RBM34_ENST00000366606.3_Silent_p.L54L P42696 RBM34_HUMAN RNA binding motif protein 34 59 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) GAGAACTGAAGAGGGACGCCA 0.567000 9 45 0 0 0.006214 0 0 FUBP1 8880 broad.mit.edu 37 1 78433858 78433858 + Nonsense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr1:78433858G>A ENST00000370767.1 - 3 328 c.241C>T c.(241-243)Caa>Taa p.Q81* FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q81*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q102* Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 81 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 CAGTCATTTTGAGGAGCAACT 0.313000 """F, N""" oligodendroglioma 6 28 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCATGGAAAAAGGGATAGCTG 0.522000 3 76 0 0 0.004672 0 0 GTSE1 51512 broad.mit.edu 37 22 46725347 46725347 + Silent SNP C C T rs61737807 byFrequency TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr22:46725347C>T ENST00000454366.1 + 11 2231 c.2019C>T c.(2017-2019)tgC>tgT p.C673C NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 654 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.C654C(1)|p.C673C(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TCGACTTCTGCGATACCCCAG 0.507000 40 133 0 0 0.011902 0 0 BMPR2 659 broad.mit.edu 37 2 203332371 203332371 + Missense_Mutation SNP A A G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:203332371A>G ENST00000374580.4 + 3 916 c.377A>G c.(376-378)aAc>aGc p.N126S BMPR2_ENST00000479069.1_3'UTR|BMPR2_ENST00000374574.2_Missense_Mutation_p.N126S NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 126 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 TGTAATGTCAACTTTACTGAG 0.368000 14 32 0 0 0.020292 0 0 FXR1 8087 broad.mit.edu 37 3 180693130 180693130 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr3:180693130G>A ENST00000357559.4 + 16 2017 c.1633G>A c.(1633-1635)Gag>Aag p.E545K FXR1_ENST00000468861.1_Intron|FXR1_ENST00000491062.1_Intron|FXR1_ENST00000445140.2_Intron|FXR1_ENST00000480918.1_Missense_Mutation_p.E532K|FXR1_ENST00000305586.7_Missense_Mutation_p.E460K NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 545 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TTCTAGAGCTGAGTCTCAGAG 0.308000 3 10 0 0 0.009096 0 0 LRP1B 53353 broad.mit.edu 37 2 141474362 141474362 + Missense_Mutation SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:141474362C>G ENST00000389484.3 - 36 6753 c.5782G>C c.(5782-5784)Gac>Cac p.D1928H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1928 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAGCCCATGTCTGTCCAGTAG 0.363000 TSP Lung(27;0.18) 3 77 0 0 0.014758 0 0 SCN3A 6328 broad.mit.edu 37 2 165987855 165987855 + Missense_Mutation SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:165987855C>G ENST00000360093.3 - 16 2955 c.2464G>C c.(2464-2466)Gaa>Caa p.E822Q SCN3A_ENST00000409101.3_Missense_Mutation_p.E773Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E822Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 822 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTCCAGCCTTCTTGGAAATAG 0.393000 13 76 0 0 0.016723 0 0 GTF3C1 2975 broad.mit.edu 37 16 27561047 27561047 + Silent SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr16:27561047C>T ENST00000356183.4 - 1 180 c.165G>A c.(163-165)ccG>ccA p.P55P GTF3C1_ENST00000561623.1_Silent_p.P55P NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 55 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 AGCTGATGCCCGGGTGCGTGG 0.731000 4 28 0 0 0.014758 0 0 IGHV1-69 28461 broad.mit.edu 37 14 107170012 107170012 + RNA SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr14:107170012G>A ENST00000390633.2 - 0 330 ATTTGTCCGCGGTAATCGTGA 0.547000 47 327 0 0 0.011902 0 0 BMPER 168667 broad.mit.edu 37 7 34118794 34118794 + Silent SNP A A G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr7:34118794A>G ENST00000297161.2 + 13 1778 c.1404A>G c.(1402-1404)aaA>aaG p.K468K BMPER_ENST00000426693.1_Silent_p.K468K NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 468 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGACCACCAAAGCAGGTGGGG 0.622000 12 59 0 0 0.010729 0 0 ACAD10 80724 broad.mit.edu 37 12 112150388 112150388 + Silent SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr12:112150388G>A ENST00000455480.2 + 7 1047 c.870G>A c.(868-870)gtG>gtA p.V290V ACAD10_ENST00000549590.1_Silent_p.V259V|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Silent_p.V259V|ACAD10_ENST00000392636.2_5'UTR NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 259 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CTCGGCCTGTGAAAAAGACGA 0.438000 26 206 0 0 0.004656 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 3 97 0 0 0.009096 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545216 60545216 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr13:60545216G>A ENST00000400324.4 - 16 1949 c.1729C>T c.(1729-1731)Cct>Tct p.P577S DIAPH3_ENST00000377908.2_Missense_Mutation_p.P566S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P507S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P577S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P531S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P577S NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 577 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GGAGGCGGAGGAGGAAGTGCT 0.552000 5 31 0 0 0.014758 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr3:97887879T>C ENST00000356526.2 + 1 336 c.336T>C c.(334-336)tgT>tgC p.C112C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCACAGAATGTTTTCTCTTGG 0.378000 3 156 0 0 0.004672 0 0 TEAD1 7003 broad.mit.edu 37 11 12901270 12901270 + Missense_Mutation SNP G G T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr11:12901270G>T ENST00000361905.4 + 6 966 c.301G>T c.(301-303)Gat>Tat p.D101Y TEAD1_ENST00000526600.1_Missense_Mutation_p.D20Y|TEAD1_ENST00000361985.2_Missense_Mutation_p.D116Y|TEAD1_ENST00000334310.6_Missense_Mutation_p.D105Y|TEAD1_ENST00000527636.1_Missense_Mutation_p.D116Y|TEAD1_ENST00000527575.1_Missense_Mutation_p.D116Y NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 116 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) GACTGCAAAGGATAAGGCCCT 0.562000 5 62 2.0095e-06 2.65357e-06 0.001984 1 0 EPHA4 2043 broad.mit.edu 37 2 222321461 222321461 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:222321461C>T ENST00000281821.2 - 7 1516 c.1475G>A c.(1474-1476)cGg>cAg p.R492Q EPHA4_ENST00000409938.1_Missense_Mutation_p.R492Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R441Q|EPHA4_ENST00000409854.1_Missense_Mutation_p.R492Q NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 492 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGCAGCTGTCCGAACTATACG 0.468000 14 65 0 0 0.004007 0 0 RTKN 6242 broad.mit.edu 37 2 74653510 74653510 + Missense_Mutation SNP T T C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:74653510T>C ENST00000305557.5 - 13 2098 c.1513A>G c.(1513-1515)Acc>Gcc p.T505A RTKN_ENST00000233330.6_Missense_Mutation_p.T468A|RTKN_ENST00000272430.5_Missense_Mutation_p.T518A NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 518 Pro-rich. apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 AGGGAAAAGGTTCGGGGTCTC 0.677000 23 80 0 0 0.014323 0 0 HSD17B4 3295 broad.mit.edu 37 5 118872146 118872146 + Missense_Mutation SNP A A C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr5:118872146A>C ENST00000504811.1 + 24 2281 c.2097A>C c.(2095-2097)aaA>aaC p.K699N HSD17B4_ENST00000515320.1_Missense_Mutation_p.K656N|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.K674N|HSD17B4_ENST00000509514.1_Missense_Mutation_p.K412N|HSD17B4_ENST00000513628.1_Missense_Mutation_p.K537N|HSD17B4_ENST00000414835.2_Missense_Mutation_p.K534N|HSD17B4_ENST00000510025.1_Missense_Mutation_p.K650N NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 674 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) GTTCTGGAAAAGTGTACCAAG 0.418000 11 43 0 0 0.020292 0 0 C14orf37 145407 broad.mit.edu 37 14 58605875 58605875 + Silent SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr14:58605875G>A ENST00000267485.7 - 2 396 c.202C>T c.(202-204)Ctg>Ttg p.L68L C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 68 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 GAGACCACCAGTTGGGGAGTC 0.453000 40 136 0 0 0.006999 0 0 C11orf82 220042 broad.mit.edu 37 11 82644784 82644784 + Missense_Mutation SNP G G C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr11:82644784G>C ENST00000533655.1 + 6 2616 c.2404G>C c.(2404-2406)Gat>Cat p.D802H C11orf82_ENST00000430323.2_Missense_Mutation_p.D802H|C11orf82_ENST00000329143.3_Missense_Mutation_p.D501H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 802 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TTCAGATCTTGATGGTAACTA 0.363000 3 23 0 0 0.004672 0 0 HGD 3081 broad.mit.edu 37 3 120394679 120394679 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr3:120394679G>A ENST00000283871.5 - 2 506 c.47C>T c.(46-48)tCa>tTa p.S16L HGD_ENST00000488183.1_5'UTR NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 16 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) AGGATCCTCTGAAGAACACTC 0.438000 23 76 0 0 0.021523 0 0 A1CF 29974 broad.mit.edu 37 10 52576013 52576013 + Silent SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr10:52576013G>A ENST00000395489.2 - 11 1269 c.873C>T c.(871-873)gtC>gtT p.V291V A1CF_ENST00000374001.1_Silent_p.V298V|A1CF_ENST00000373995.3_Silent_p.V306V|A1CF_ENST00000373993.1_Silent_p.V298V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Silent_p.V298V|ASAH2B_ENST00000483649.1_3'UTR|A1CF_ENST00000395495.1_Silent_p.V243V|A1CF_ENST00000282641.2_Silent_p.V298V NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 298 RRM 3. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTGCTAGGGTGACTTCAATGG 0.478000 16 40 0 0 0.006122 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532386 84532386 + RNA SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr9:84532386C>G ENST00000527857.1 + 0 2408 NR_026851.1 ATTGCATGATCCAGAGACATC 0.478000 14 74 0 0 0.004007 0 0 AHNAK 79026 broad.mit.edu 37 11 62293150 62293150 + Silent SNP T T C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr11:62293150T>C ENST00000378024.4 - 5 9013 c.8739A>G c.(8737-8739)gaA>gaG p.E2913E AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2913 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCACATCCACTTCAGGGCCCT 0.517000 76 294 0 0 0.014410 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507309 130507309 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr9:130507309C>T ENST00000314830.8 - 7 1447 c.1334G>A c.(1333-1335)cGt>cAt p.R445H SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R91H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R377H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R287H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R285H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R288H NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 445 R -> C (in Ref. 1; AAD28246 and 2; AAQ89948). JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCACTGGAACGGCGGGCGAC 0.657000 65 49 0 0 0.014410 0 0 ZNF671 79891 broad.mit.edu 37 19 58232120 58232120 + Missense_Mutation SNP C C T TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr19:58232120C>T ENST00000317398.6 - 4 1429 c.1334G>A c.(1333-1335)aGa>aAa p.R445K AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R347K NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 445 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCTGTGAATTCTCCAGTGTAC 0.463000 17 57 0 0 0.004007 0 0 DNAH7 56171 broad.mit.edu 37 2 196664030 196664030 + Missense_Mutation SNP G G A TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:196664030G>A ENST00000312428.6 - 55 10443 c.10343C>T c.(10342-10344)gCt>gTt p.A3448V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3448 AAA 6 (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 CTGGTCATCAGCAAATTTTAG 0.388000 4 135 0 0 0.009096 0 0 PIK3CB 5291 broad.mit.edu 37 3 138383967 138383967 + Silent SNP A A C TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr3:138383967A>C ENST00000477593.1 - 19 2656 c.2583T>G c.(2581-2583)gcT>gcG p.A861A PIK3CB_ENST00000289153.2_Silent_p.A861A|PIK3CB_ENST00000544716.1_Silent_p.A312A P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 861 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 GCTGAATGTCAGCAATTGTTT 0.448000 10 35 0 0 0.006214 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 35 0 0 0.009096 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 32 0 0 0.009096 0 0 SETX 23064 broad.mit.edu 37 9 135203150 135203150 + Missense_Mutation SNP C C G TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr9:135203150C>G ENST00000372169.2 - 10 4017 c.3835G>C c.(3835-3837)Gag>Cag p.E1279Q SETX_ENST00000393220.1_Missense_Mutation_p.E1279Q|SETX_ENST00000224140.5_Missense_Mutation_p.E1279Q Q7Z333 SETX_HUMAN senataxin 1279 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GAAGTTGGCTCAGGACACTGA 0.428000 26 177 0 0 0.004656 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100762 89100766 + RNA DEL TGAAT TGAAT - rs74666751 by1000genomes TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr2:89100762_89100766delTGAAT ENST00000393525.3 + 0 1236_1240 GGTTGGTAAATGAATTGAATCATTT 0.332 8 117 --- --- --- --- CEP85L 387119 broad.mit.edu 37 6 118887049 118887049 + Frame_Shift_Del DEL T T - TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr6:118887049delT ENST00000368491.3 - 3 1284 c.663delA c.(661-663)aafs p.K221fs CEP85L_ENST00000360290.3_Frame_Shift_Del_p.K119fs|CEP85L_ENST00000368488.5_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000419517.2_Frame_Shift_Del_p.K221fs|CEP85L_ENST00000392500.3_Frame_Shift_Del_p.K224fs|CEP85L_ENST00000472713.1_5'UTR NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 221 centrosome TTGATGACCGTTTTTTATTTA 0.418 30 88 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-CN-6996-01A-11D-1912-08 TCGA-CN-6996-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c063bec5-c716-4ea2-843a-e9f0bec3b540 5a2e6c40-39c0-4385-923a-10c862ad731a g.chr7:103629803_103629804insGCCGCC ENST00000428762.1 - 0 159_160 RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCGCTCCATgccgccgccgc 0.723 2 4 --- --- --- ---