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 XIRP2 129446 broad.mit.edu 37 2 168105298 168105298 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:168105298G>A ENST00000409195.1 + 9 7485 c.7396G>A c.(7396-7398)Gta>Ata p.V2466I XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2466I|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2244I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2291 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCAGAAAAAAGTAATGGTGAT 0.363000 6 68 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34105190 34105190 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:34105190G>A ENST00000389232.4 + 73 10454 c.10384G>A c.(10384-10386)Gaa>Aaa p.E3462K RYR3_ENST00000415757.3_Missense_Mutation_p.E3457K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3462 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTTCCACCTGGAACAGGTAAG 0.507000 7 63 0 0 1 0 0 TMEM252 169693 broad.mit.edu 37 9 71152389 71152389 + Missense_Mutation SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr9:71152389G>T ENST00000377311.3 - 2 351 c.299C>A c.(298-300)gCt>gAt p.A100D NM_153237.1 NP_694969.1 transmembrane protein 252 CTCTTCATAAGCTGGAGGGTA 0.512000 5 35 2.0095e-06 2.05911e-06 1 1 0 TUBA3E 112714 broad.mit.edu 37 2 130951871 130951871 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:130951871C>T ENST00000312988.7 - 4 644 c.544G>A c.(544-546)Gtg>Atg p.V182M NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 182 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TAGGGCTCCACCACGGCTGTG 0.542000 10 35 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109477475 109477475 + Missense_Mutation SNP G G C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:109477475G>C ENST00000369971.2 - 11 1602 c.1473C>G c.(1471-1473)agC>agG p.S491R CLCC1_ENST00000302500.4_Missense_Mutation_p.S370R|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.S441R|CLCC1_ENST00000369968.2_Missense_Mutation_p.S306R|CLCC1_ENST00000369969.2_Missense_Mutation_p.S370R|CLCC1_ENST00000369970.3_Missense_Mutation_p.S441R|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.S491R|CLCC1_ENST00000348264.2_Missense_Mutation_p.S306R NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 491 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) TGGCCGACTGGCTGCTTTCAG 0.532000 29 74 0 0 1 0 0 TUBA3D 113457 broad.mit.edu 37 2 132237810 132237810 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:132237810G>A ENST00000321253.6 + 4 651 c.544G>A c.(544-546)Gtg>Atg p.V182M TUBA3D_ENST00000409047.2_3'UTR NM_080386.3 NP_525125.2 Q13748 TBA3C_HUMAN tubulin, alpha 3d 182 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 BRCA - Breast invasive adenocarcinoma(221;0.13) CACAGCCGTGGTGGAGCCCTA 0.552000 27 304 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093625 40093625 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:40093625G>A ENST00000299092.3 - 4 1451 c.1253C>T c.(1252-1254)gCg>gTg p.A418V GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 419 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GGCAGAGGGCGCAAACTGTGG 0.577000 4 142 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034901 96034901 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:96034901A>G ENST00000369293.1 + 2 720 c.586A>G c.(586-588)Ata>Gta p.I196V MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) gtgtctgtatatatgcatatA 0.279000 11 29 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812419 140812419 + Missense_Mutation SNP C C A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:140812419C>A ENST00000252085.3 + 1 2235 c.2093C>A c.(2092-2094)gCc>gAc p.A698D PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTAGCGGTGGCCGCGGTCTCC 0.652000 58 208 7.22619e-39 7.89176e-39 1 1 0 CCNF 899 broad.mit.edu 37 16 2483041 2483041 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr16:2483041C>T ENST00000397066.4 + 3 339 c.251C>T c.(250-252)tCt>tTt p.S84F NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 84 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) CTGTGGCCGTCTCCAGGGAAC 0.592000 7 23 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52860854 52860854 + Missense_Mutation SNP C C T rs148337590 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:52860854C>T ENST00000266041.4 - 4 568 c.472G>A c.(472-474)Gag>Aag p.E158K ITIH4_ENST00000346281.5_Missense_Mutation_p.E158K|ITIH4_ENST00000485816.1_Missense_Mutation_p.E158K|ITIH4_ENST00000406595.1_Missense_Mutation_p.E158K|ITIH4_ENST00000434759.3_Missense_Mutation_p.E70K NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 158 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGCAGCAGCTCGTACACCCCC 0.602000 4 64 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188247925 188247925 + Missense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:188247925C>G ENST00000409998.1 - 6 940 c.159G>C c.(157-159)atG>atC p.M53I AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.M53I|CALCRL_ENST00000410068.1_Missense_Mutation_p.M53I|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 53 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGGGGTCTTGCATAATCTTTT 0.333000 4 73 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56167859 56167859 + Splice_Site SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:56167859G>T ENST00000399503.3 + 7 1423 c.e7+1 NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) ATGTCAATTTGTATGTGGCTC 0.438000 14 46 4.3838e-07 4.51994e-07 1 1 0 FAM208B 54906 broad.mit.edu 37 10 5772856 5772856 + Silent SNP A A C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr10:5772856A>C ENST00000328090.5 + 11 1519 c.894A>C c.(892-894)ggA>ggC p.G298G RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 298 GTGATGCTGGATTTTCCTTAG 0.408000 33 98 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155533757 155533757 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr4:155533757C>T ENST00000404648.3 - 1 244 c.5G>A c.(4-6)aGt>aAt p.S2N FGG_ENST00000336098.3_Missense_Mutation_p.S2N|FGG_ENST00000407946.1_Missense_Mutation_p.S2N|FGG_ENST00000405164.1_Missense_Mutation_p.S2N NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 2 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CAAGGACCAACTCATGATGTC 0.473000 12 32 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14939126 14939126 + Silent SNP C C T rs137983126 by1000genomes TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:14939126C>T ENST00000285046.5 + 5 2969 c.2859C>T c.(2857-2859)caC>caT p.H953H FGD5_ENST00000543601.1_Silent_p.H712H|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 953 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CAGCCATCCACGACCTTCATC 0.582000 3 9 0 0 1 0 0 EPS15 2060 broad.mit.edu 37 1 51829611 51829611 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:51829611G>A ENST00000371733.3 - 23 2382 c.2286C>T c.(2284-2286)gtC>gtT p.V762V EPS15_ENST00000396122.4_Silent_p.V439V|EPS15_ENST00000371730.2_Silent_p.V628V NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 762 15 X 3 AA repeats of D-P-F. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CTTCACTTTTGACCGATGTTT 0.438000 T MLL ALL 18 52 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900872 51900872 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:51900872C>T ENST00000268919.4 + 1 634 c.478C>T c.(478-480)Cgg>Tgg p.R160W NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 160 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCAGGAGCAGCGGGAAAAGCG 0.552000 38 80 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96652499 96652499 + Splice_Site SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:96652499C>G ENST00000456556.1 - 3 570 c.486_splice c.e3+1 p.E162_splice ankyrin repeat domain 36C p.E162E(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TGACCTATACCTCGCTGCATT 0.338000 6 16 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78492394 78492394 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr13:78492394C>T ENST00000377211.4 - 2 737 c.585G>A c.(583-585)acG>acA p.T195T EDNRB_ENST00000334286.5_Silent_p.T105T|EDNRB_ENST00000446573.1_Silent_p.T105T NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 105 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) AGGACACAACCGTGTTGATGT 0.522000 12 52 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55254030 55254030 + Missense_Mutation SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:55254030T>C ENST00000337526.6 - 3 1448 c.1205A>G c.(1204-1206)gAt>gGt p.D402G RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.D196G|RTN4_ENST00000405240.1_Missense_Mutation_p.D196G|RTN4_ENST00000394611.2_Missense_Mutation_p.D196G|RTN4_ENST00000357376.3_Missense_Mutation_p.D196G|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.D170G NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 402 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CATATCACTATCTTCCTTACT 0.393000 36 142 0 0 1 0 0 TAAR9 134860 broad.mit.edu 37 6 132859647 132859647 + RNA SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:132859647G>A ENST00000434551.1 + 0 219 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TGATTGCGTCGCTGGCCTGTG 0.493000 14 30 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962046 34962046 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chrX:34962046C>T ENST00000329357.5 + 1 1134 c.1098C>T c.(1096-1098)ggC>ggT p.G366G NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 366 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GTTGTGAGGGCCAGGAGATGA 0.547000 25 13 0 0 1 0 0 PPP1R35 221908 broad.mit.edu 37 7 100033541 100033541 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr7:100033541C>T ENST00000292330.2 - 2 571 c.381G>A c.(379-381)gcG>gcA p.A127A PPP1R35_ENST00000476185.1_5'UTR|RP11-758P17.2_ENST00000492523.1_RNA NM_145030.2 NP_659467.1 Q8TAP8 CG047_HUMAN protein phosphatase 1, regulatory subunit 35 127 CCACGGCCTTCGCAGCATCAA 0.706000 3 22 0 0 1 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74670662 74670662 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chrX:74670662C>T ENST00000541184.1 - 3 804 c.327G>A c.(325-327)ccG>ccA p.P109P ZDHHC15_ENST00000373367.3_Silent_p.P118P|ZDHHC15_ENST00000373361.3_Silent_p.P118P NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 118 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TTGTGTAAACCGGTAGCTTTT 0.453000 9 29 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233651923 233651923 + Nonsense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:233651923C>G ENST00000373566.3 + 10 859 c.662C>G c.(661-663)tCa>tGa p.S221* GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S199*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S30*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S221*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S199* Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 199 Arg-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTTATACGCTCAGAAAGTGAA 0.423000 19 70 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17062109 17062109 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:17062109C>T ENST00000395811.5 + 14 1928 c.1839C>T c.(1837-1839)cgC>cgT p.R613R MPRIP_ENST00000341712.4_Silent_p.R613R|MPRIP_ENST00000444976.1_Silent_p.R575R|MPRIP_ENST00000395804.3_Silent_p.R613R NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 613 Interaction with RHOA. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CAGCCCTGCGCATGGAGGTGG 0.662000 56 49 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28409159 28409159 + Missense_Mutation SNP C C A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr10:28409159C>A ENST00000337532.5 - 11 1127 c.851G>T c.(850-852)aGg>aTg p.R284M MPP7_ENST00000375732.1_Missense_Mutation_p.R284M|MPP7_ENST00000540098.1_Missense_Mutation_p.R284M|MPP7_ENST00000445954.2_Missense_Mutation_p.R159M|MPP7_ENST00000375719.3_Missense_Mutation_p.R284M NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 284 SH3. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CAAGCCTGCCCTGGGGTTGGC 0.458000 16 58 4.75885e-15 5.09657e-15 1 1 0 SGIP1 84251 broad.mit.edu 37 1 67160169 67160169 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:67160169C>T ENST00000371036.3 + 14 1194 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R341C|SGIP1_ENST00000237247.6_Intron Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 540 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GTTTGAAAGGCGCTGTGAAAC 0.393000 5 13 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77629164 77629164 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:77629164G>A ENST00000461745.1 + 16 3295 c.2395G>A c.(2395-2397)Gta>Ata p.V799I ROBO2_ENST00000332191.8_Missense_Mutation_p.V799I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V815I NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 799 Fibronectin type-III 3. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CATTCGGTCCGTAATAATTGG 0.433000 11 44 0 0 1 0 0 AMER2 219287 broad.mit.edu 37 13 25745697 25745697 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr13:25745697C>T ENST00000357816.2 - 2 536 c.61G>A c.(61-63)Gcg>Acg p.A21T AMER2_ENST00000515384.1_Missense_Mutation_p.A21T|AMER2_ENST00000381853.3_Missense_Mutation_p.A21T APC membrane recruitment protein 2 CCCACGGACGCGCCAGCTCCG 0.726000 4 7 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1198837 1198837 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:1198837G>A ENST00000333813.3 + 2 779 c.440G>A c.(439-441)cGc>cAc p.R147H NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 147 response to biotic stimulus integral to membrane p.R147H(1)|p.R147L(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGCTGGGCCGCCTGGCTCGG 0.622000 29 195 0 0 1 0 0 ZNF24 7572 broad.mit.edu 37 18 32917661 32917661 + Missense_Mutation SNP T T G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr18:32917661T>G ENST00000261332.6 - 4 821 c.642A>C c.(640-642)gaA>gaC p.E214D ZNF24_ENST00000399061.3_Missense_Mutation_p.E214D|ZNF24_ENST00000589881.1_3'UTR NM_006965.2 NP_008896.2 P17028 ZNF24_HUMAN zinc finger protein 24 214 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 TGCCAGGAACTTCATGGGATT 0.403000 36 89 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144400209 144400209 + Silent SNP G G A rs34884995 byFrequency TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr8:144400209G>A ENST00000523676.1 - 10 1305 c.900C>T c.(898-900)gaC>gaT p.D300D TOP1MT_ENST00000519148.1_Silent_p.D300D|TOP1MT_ENST00000329245.4_Silent_p.D398D|TOP1MT_ENST00000521193.1_Silent_p.D300D Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 398 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CGAAGAGGTCGTCCCGGGGGT 0.572000 25 59 0 0 1 0 0 KPNA1 3836 broad.mit.edu 37 3 122145946 122145946 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:122145946C>T ENST00000344337.6 - 14 1679 c.1503G>A c.(1501-1503)gaG>gaA p.E501E KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 501 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) CGAAGTAATGCTCAATAAGAT 0.423000 22 39 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139202177 139202177 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:139202177G>A ENST00000423192.1 + 14 1910 c.1749G>A c.(1747-1749)caG>caA p.Q583Q ECT2L_ENST00000367682.2_Silent_p.Q583Q|ECT2L_ENST00000541398.1_Silent_p.Q514Q Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 583 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 AATACGTGCAGATACTGGAAA 0.423000 """N, Splice, Mis""" ETP ALL 16 36 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46108017 46108017 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:46108017A>G ENST00000321037.4 + 2 927 c.697A>G c.(697-699)Atc>Gtc p.I233V NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 233 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TCTTAATGTGATCATTACAAG 0.378000 4 85 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936738 15936738 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:15936738C>T ENST00000504595.1 + 4 1400 c.919C>T c.(919-921)Cgc>Tgc p.R307C FBXL7_ENST00000510662.1_Missense_Mutation_p.R260C|FBXL7_ENST00000329673.7_Missense_Mutation_p.R295C NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 307 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CTACCTGCGCCGCTGCGTCCG 0.647000 10 35 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89347680 89347680 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr16:89347680G>A ENST00000301030.4 - 9 5730 c.5270C>T c.(5269-5271)tCc>tTc p.S1757F ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1757F NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1757 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AAAGGAGGGGGAGCAGGCGCT 0.652000 24 90 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124418865 124418865 + Nonsense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:124418865C>T ENST00000360013.3 + 56 8108 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2660 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGAGTTTGTGCGACTTCCAGA 0.597000 5 172 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 103 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76456182 76456182 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr8:76456182C>T ENST00000396423.2 + 2 349 c.225C>T c.(223-225)cgC>cgT p.R75R HNF4G_ENST00000354370.1_Silent_p.R38R NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 38 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TCTTCAGACGCAGCATTCGTA 0.448000 22 75 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153884004 153884004 + Missense_Mutation SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr4:153884004T>A ENST00000511601.1 + 7 1077 c.889T>A c.(889-891)Ttg>Atg p.L297M FHDC1_ENST00000260008.3_Missense_Mutation_p.L297M Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 297 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) AATATTACACTTGGTGCTCCA 0.368000 6 37 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640553 99640553 + Missense_Mutation SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr12:99640553A>T ENST00000547776.2 - 13 1845 c.1846T>A c.(1846-1848)Tgt>Agt p.C616S ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.C196S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C616S NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 616 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GGGGACTCACAGGCTGGAGAG 0.458000 4 203 0 0 1 0 0 MTPAP 55149 broad.mit.edu 37 10 30638178 30638178 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr10:30638178C>T ENST00000263063.3 - 1 70 c.27G>A c.(25-27)ttG>ttA p.L9L MTPAP_ENST00000488290.1_Intron|MTPAP_ENST00000358107.4_Intron NM_018109.3 NP_060579.3 Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 9 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TCAAACGGGTCAAGAGCCCCA 0.527000 7 29 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176918380 176918380 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:176918380G>A ENST00000367654.2 - 12 2032 c.2019C>T c.(2017-2019)ctC>ctT p.L673L ASTN1_ENST00000424564.2_Silent_p.L665L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.L665L|ASTN1_ENST00000361833.2_Silent_p.L665L O14525 ASTN1_HUMAN astrotactin 1 673 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCATCTGCTGGAGGCACAGCT 0.612000 OREG0014004 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 81 0 0 1 0 0 C7orf49 78996 broad.mit.edu 37 7 134851619 134851619 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr7:134851619C>T ENST00000424142.1 - 4 655 c.53G>A c.(52-54)cGc>cAc p.R18H C7orf49_ENST00000483029.2_Missense_Mutation_p.R18H|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Missense_Mutation_p.R72H|C7orf49_ENST00000393114.3_Missense_Mutation_p.R73H NM_001243749.1|NM_001243753.1 NP_001230678.1|NP_001230682.1 Q9BWK5 MRI_HUMAN chromosome 7 open reading frame 49 73 cytoplasm endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 TTCCTGTTTGCGGCTCTGTGG 0.552000 4 78 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 31 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56818648 56818648 + Missense_Mutation SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr12:56818648T>C ENST00000229201.4 - 15 1917 c.1763A>G c.(1762-1764)gAg>gGg p.E588G TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E589G NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 589 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CACTGGCACCTCTGAGGCCGC 0.577000 4 135 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150445606 150445606 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:150445606C>T ENST00000401000.4 + 10 4169 c.4104C>T c.(4102-4104)agC>agT p.S1368S RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.S1394S Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1394 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GCAACAGCAGCAGTGGCCCCC 0.617000 16 75 0 0 1 0 0 CCDC71 64925 broad.mit.edu 37 3 49200836 49200836 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:49200836C>T ENST00000321895.6 - 2 912 c.806G>A c.(805-807)cGa>cAa p.R269Q NM_022903.3 NP_075054.3 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 269 endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCTTTCATTCGCCGGACACT 0.632000 17 67 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95923584 95923584 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr14:95923584A>G ENST00000334258.5 - 4 733 c.719T>C c.(718-720)gTg>gCg p.V240A SYNE3_ENST00000553340.1_Missense_Mutation_p.V240A|SYNE3_ENST00000557275.1_Missense_Mutation_p.V240A NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CACCTTCTCCACCACCGCCTT 0.617000 47 152 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121880094 121880094 + Silent SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr12:121880094G>T ENST00000377069.4 - 18 3349 c.2943C>A c.(2941-2943)ccC>ccA p.P981P KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.P1050P|KDM2B_ENST00000542973.1_Silent_p.P418P NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1050 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 AGTCAGGCGGGGGGCTGATGG 0.677000 12 22 0.0167234 0.0168247 1 1 0 PGLYRP1 8993 broad.mit.edu 37 19 46522516 46522516 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr19:46522516G>A ENST00000008938.4 - 3 614 c.571C>T c.(571-573)Cca>Tca p.P191S CCDC61_ENST00000601763.1_Intron NM_005091.2 NP_005082.1 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 191 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 10 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) CGGTAGTGTGGCCAATTCTGG 0.572000 11 38 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29704529 29704529 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr22:29704529G>A ENST00000471961.1 + 1 1482 c.434G>A c.(433-435)cGg>cAg p.R145Q GAS2L1_ENST00000360113.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R145Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R145Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R145Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R145Q Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 145 CH. cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 GAGGTGGCGCGGCGTGGGGCA 0.677000 8 12 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3614477 3614477 + Missense_Mutation SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr19:3614477T>A ENST00000429344.2 - 7 1325 c.1273A>T c.(1273-1275)Atc>Ttc p.I425F CACTIN_ENST00000221899.3_Missense_Mutation_p.I357F|CACTIN_ENST00000248420.5_Missense_Mutation_p.I425F NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CCAGCGCGGATTTTGCCCTCG 0.632000 4 14 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301921 139301921 + Missense_Mutation SNP C C A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr9:139301921C>A ENST00000298537.7 - 4 637 c.426G>T c.(424-426)gaG>gaT p.E142D SDCCAG3_ENST00000371725.3_Missense_Mutation_p.E92D|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.E165D NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 165 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CTGTCGGATCCTCGAAAAATG 0.607000 7 21 0.0293803 0.0293803 1 1 0 PAK2 5062 broad.mit.edu 37 3 196509524 196509524 + Missense_Mutation SNP G G C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:196509524G>C ENST00000327134.3 + 2 329 c.7G>C c.(7-9)Gat>Cat p.D3H NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 3 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) AATCATGTCTGATAACGGAGA 0.403000 13 149 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23874911 23874911 + Missense_Mutation SNP C C A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr14:23874911C>A ENST00000405093.3 - 4 340 c.270G>T c.(268-270)atG>atT p.M90I MYH6_ENST00000356287.3_Missense_Mutation_p.M90I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 90 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCAGCATGGCCATGTCCTCAA 0.577000 22 93 2.89027e-11 3.01751e-11 1 1 0 AFF3 3899 broad.mit.edu 37 2 100185340 100185340 + Nonsense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:100185340G>A ENST00000317233.4 - 18 3191 c.2956C>T c.(2956-2958)Cga>Tga p.R986* AFF3_ENST00000409579.1_Nonsense_Mutation_p.R1011*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.R986*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.R1011* NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 986 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGCTTCATTCGTTTAGCTTCT 0.378000 22 118 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30638812 30638812 + Splice_Site SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:30638812C>T ENST00000376442.3 - 2 642 c.e2+1 NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 TTCTGACTTACCCTGTTTTCT 0.512000 47 152 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51206184 51206184 + Missense_Mutation SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr14:51206184T>A ENST00000245441.5 - 26 5660 c.5470A>T c.(5470-5472)Act>Tct p.T1824S NIN_ENST00000530997.2_Missense_Mutation_p.T1824S|NIN_ENST00000453196.1_Missense_Mutation_p.T1824S|NIN_ENST00000389868.3_Missense_Mutation_p.T1111S|NIN_ENST00000382041.3_Missense_Mutation_p.T1824S|NIN_ENST00000382043.4_Missense_Mutation_p.T1111S|NIN_ENST00000324330.9_Missense_Mutation_p.T1824S NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1824 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GATGGATGAGTAGCTATCTCT 0.458000 T PDGFRB MPD 23 73 0 0 1 0 0 TRAK2 66008 broad.mit.edu 37 2 202248909 202248909 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:202248909G>A ENST00000332624.3 - 15 2422 c.1994C>T c.(1993-1995)tCg>tTg p.S665L NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 665 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 GTTTGTGCACGACAGGCACTT 0.423000 15 64 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 29 42 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169546595 169546595 + Missense_Mutation SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:169546595A>T ENST00000340806.6 + 2 1069 c.1069A>T c.(1069-1071)Aca>Tca p.T357S NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 357 p.T357P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ACTTGGACTAACAGGAAATGA 0.368000 19 75 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210014234 210014234 + Missense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:210014234C>G ENST00000491415.2 + 8 1376 c.1319C>G c.(1318-1320)gCc>gGc p.A440G NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 440 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 CGACTCTATGCCCCGTTTTAC 0.473000 13 84 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373679 86373679 + Missense_Mutation SNP A A C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr12:86373679A>C ENST00000604798.1 - 8 2029 c.825T>G c.(823-825)ttT>ttG p.F275L MGAT4C_ENST00000549405.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000548651.1_Missense_Mutation_p.F275L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.F275L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.F304L Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 275 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ACATTAATAAAAAATGGGCCA 0.388000 8 61 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579359 7579359 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:7579359G>A ENST00000420246.2 - 4 460 c.328C>T c.(328-330)Cgt>Tgt p.R110C TP53_ENST00000269305.4_Missense_Mutation_p.R110C|TP53_ENST00000445888.2_Missense_Mutation_p.R110C|TP53_ENST00000455263.2_Missense_Mutation_p.R110C|TP53_ENST00000413465.2_Missense_Mutation_p.R110C|TP53_ENST00000359597.4_Missense_Mutation_p.R110C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110fs*13(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) AAGCCCAGACGGAAACCGTAG 0.607000 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) 5 136 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55929437 55929437 + Missense_Mutation SNP G G C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:55929437G>C ENST00000389286.4 - 15 2601 c.2554C>G c.(2554-2556)Cgc>Ggc p.R852G NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 852 Fibronectin type-III 5. multicellular organismal development integral to membrane p.R852S(1) breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ATAGTATAGCGGGTCACAACT 0.473000 13 139 0 0 1 0 0 SPINT1 6692 broad.mit.edu 37 15 41149144 41149144 + Missense_Mutation SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:41149144G>T ENST00000344051.4 + 11 1795 c.1561G>T c.(1561-1563)Gtc>Ttc p.V521F SPINT1_ENST00000431806.1_Missense_Mutation_p.V505F|SPINT1_ENST00000562057.1_Missense_Mutation_p.V505F O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 521 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGAGCACCTGGTCTATAACCA 0.622000 23 185 5.45024e-15 5.79961e-15 1 1 0 ARSI 340075 broad.mit.edu 37 5 149677718 149677718 + Missense_Mutation SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:149677718T>A ENST00000328668.7 - 2 1348 c.769A>T c.(769-771)Aat>Tat p.N257Y NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 257 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGGGCCACATTGCCCATGGTG 0.612000 19 34 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40566440 40566440 + Missense_Mutation SNP G G A rs143844489 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:40566440G>A ENST00000560346.1 + 10 2424 c.1841G>A c.(1840-1842)cGg>cAg p.R614Q PAK6_ENST00000453867.1_Missense_Mutation_p.R614Q|PAK6_ENST00000542403.2_Missense_Mutation_p.R614Q|PAK6_ENST00000441369.1_Missense_Mutation_p.R614Q|PAK6_ENST00000260404.4_Missense_Mutation_p.R614Q|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_3'UTR Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 614 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) AAGAGGCTCCGGGACAGCCCC 0.577000 OREG0023057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 104 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140529944 140529944 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:140529944G>A ENST00000231136.1 + 1 106 c.106G>A c.(106-108)Gag>Aag p.E36K PCDHB6_ENST00000543635.1_Intron NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 36 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCGTATTGGAGGAGACAGA 0.498000 16 122 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140111745 140111745 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr7:140111745C>T ENST00000275874.5 + 4 612 c.414C>T c.(412-414)caC>caT p.H138H RAB19_ENST00000537763.1_Silent_p.H91H|RAB19_ENST00000356407.3_Silent_p.H91H A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 91 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GCAGTGCCCACGCAGCCATCA 0.562000 6 114 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227257552 227257552 + Missense_Mutation SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:227257552T>C ENST00000366769.3 - 21 4121 c.2830A>G c.(2830-2832)Ata>Gta p.I944V CDC42BPA_ENST00000366765.3_Missense_Mutation_p.I944V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.I944V|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.I863V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.I944V|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.I944V NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 944 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TGGTGCTCTATACCTAGAAGA 0.358000 3 20 0 0 1 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80600958 80600958 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:80600958A>G ENST00000254037.2 + 1 3537 c.382A>G c.(382-384)Atg>Gtg p.M128V ZCCHC9_ENST00000438268.2_Missense_Mutation_p.M128V|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.M128V|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.M128V|ZCCHC9_ENST00000506458.1_Intron Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 128 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) GAAAAATGCAATGGTGAGAGC 0.373000 6 52 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71649996 71649996 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:71649996G>A ENST00000409544.1 + 22 3982 c.3352G>A c.(3352-3354)Gat>Aat p.D1118N ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1118N|ZNF638_ENST00000409407.1_Missense_Mutation_p.D58N NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1118 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AACAGCAACTGATAGTCCCTC 0.383000 21 66 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50297857 50297857 + Missense_Mutation SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr22:50297857G>T ENST00000330817.5 - 9 1481 c.1208C>A c.(1207-1209)tCt>tAt p.S403Y NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 403 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) GAGAAACCGAGACACACCTGT 0.652000 10 40 0.000673444 0.000681657 1 1 0 BAP1 8314 broad.mit.edu 37 3 52437163 52437163 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:52437163G>A ENST00000460680.1 - 14 2352 c.1881C>T c.(1879-1881)taC>taT p.Y627Y BAP1_ENST00000296288.5_Silent_p.Y609Y NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 627 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.Y627*(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CCTTGGGTGAGTATTTCTCCC 0.582000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 5 37 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6167791 6167791 + Missense_Mutation SNP G G A rs148207995 byFrequency TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:6167791G>A ENST00000264870.3 - 13 2073 c.1808C>T c.(1807-1809)gCg>gTg p.A603V NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 603 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.A603G(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GTGCAGGGACGCTTGTTCCAG 0.522000 10 33 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61067677 61067677 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:61067677G>A ENST00000301764.7 - 27 3751 c.3354C>T c.(3352-3354)agC>agT p.S1118S DDB1_ENST00000451943.2_Silent_p.S105S|DDB1_ENST00000450997.2_Silent_p.S429S|DDB1_ENST00000538470.1_Silent_p.S165S NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 1118 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GCTTCATACCGCTGCCATCGT 0.602000 Nucleotide excision repair (NER) 11 25 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4900349 4900349 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr7:4900349C>T ENST00000404991.1 - 1 1276 c.1090G>A c.(1090-1092)Gct>Act p.A364T RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 364 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAGCTTGGAGCTTCAAAGAGT 0.403000 23 85 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51477888 51477888 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:51477888G>A ENST00000335891.5 - 5 416 c.407C>T c.(406-408)gCc>gTc p.A136V Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 136 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GGCCTCTCGGGCCCATTTGAA 0.383000 3 21 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 34998834 34998834 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:34998834C>T ENST00000231420.6 - 14 1735 c.1535G>A c.(1534-1536)aGa>aAa p.R512K NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 512 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TTACTTAGCTCTTCTTTCCAT 0.388000 6 37 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99099025 99099025 + Missense_Mutation SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr13:99099025T>C ENST00000376586.2 + 27 3439 c.3103T>C c.(3103-3105)Tcc>Ccc p.S1035P FARP1_ENST00000595437.1_Missense_Mutation_p.S1035P|FARP1_ENST00000319562.6_Missense_Mutation_p.S1004P Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 1004 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GCACTTCAAGTCCCACGTCTA 0.577000 10 111 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32051466 32051466 + Silent SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:32051466C>G ENST00000271064.7 + 10 1282 c.1206C>G c.(1204-1206)gtC>gtG p.V402V TINAGL1_ENST00000457433.2_Silent_p.V371V|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 402 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CCCACTCAGTCAAGATCACAG 0.587000 4 10 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25456763 25456763 + Missense_Mutation SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr20:25456763T>C ENST00000278886.6 - 17 3237 c.3164A>G c.(3163-3165)aAg>aGg p.K1055R NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1055 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CATGTCATCCTTCTCTCTCTC 0.542000 53 65 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497257 52497257 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr19:52497257G>A ENST00000602063.1 - 6 1421 c.1072C>T c.(1072-1074)Cgt>Tgt p.R358C ZNF615_ENST00000598071.1_Missense_Mutation_p.R369C|ZNF615_ENST00000391795.3_Missense_Mutation_p.R363C|ZNF615_ENST00000376716.5_Missense_Mutation_p.R358C|ZNF615_ENST00000594083.1_Missense_Mutation_p.R369C Q8N8J6 ZN615_HUMAN zinc finger protein 615 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCAGTAAGACGCCTCTTCTCA 0.388000 20 58 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543531 141543531 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr4:141543531G>A ENST00000442267.2 - 21 3693 c.3619C>T c.(3619-3621)Cgg>Tgg p.R1207W NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1207 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GCCCAGTCCCGGTCCAGGCTG 0.647000 5 25 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681978 69681978 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr4:69681978A>G ENST00000265403.7 + 1 268 c.241A>G c.(241-243)Act>Gct p.T81A UGT2B10_ENST00000458688.2_Missense_Mutation_p.T81A NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 81 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TACATCTTTAACTAAAACTGA 0.343000 33 69 0 0 1 0 0 ERV3-1 2086 broad.mit.edu 37 7 64452930 64452930 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr7:64452930C>T ENST00000394323.2 - 2 975 c.475G>A c.(475-477)Gat>Aat p.D159N NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN 159 virion breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8) 16 actggggaatcggtggaacaa 0.448000 7 77 0 0 1 0 0 SGK1 6446 broad.mit.edu 37 6 134496700 134496700 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:134496700A>G ENST00000413996.3 - 1 429 c.100T>C c.(100-102)Ttc>Ctc p.F34L SGK1_ENST00000367858.5_Intron|SGK1_ENST00000528577.1_Intron NM_001143678.1 NP_001137150.1 O00141 SGK1_HUMAN serum/glucocorticoid regulated kinase 1 0 Necessary for localization to the cytoplasm. apoptosis|response to stress|sodium ion transport endoplasmic reticulum|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1) 46 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847) CTCAGCAGGAAGGACTCGCTC 0.711000 3 3 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198668713 198668713 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:198668713C>T ENST00000367376.2 + 5 484 c.313C>T c.(313-315)Cct>Tct p.P105S PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P107S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P105S NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 105 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.P105T(1) breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGTACAGACGCCTCACCTTCC 0.512000 OREG0014061 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 116 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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 46 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825535 21825535 + RNA SNP C C A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:21825535C>A ENST00000426869.3 + 0 239 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) ggggaagcagcgcggcatccc 0.627000 25 68 2.61193e-14 2.76166e-14 1 1 0 KIAA2022 340533 broad.mit.edu 37 X 73963630 73963630 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chrX:73963630G>A ENST00000373468.1 - 3 1413 c.762C>T c.(760-762)tcC>tcT p.S254S KIAA2022_ENST00000055682.5_Silent_p.S254S Q5QGS0 K2022_HUMAN KIAA2022 254 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AATCCTGATTGGAATTTGCAA 0.403000 4 78 0 0 1 0 0 SULT1A1 6817 broad.mit.edu 37 16 28620068 28620068 + Missense_Mutation SNP G G A rs148045936 byFrequency TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr16:28620068G>A ENST00000395609.1 - 4 867 c.109C>T c.(109-111)Cgg>Tgg p.R37W SULT1A1_ENST00000395607.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.R37W|SULT1A1_ENST00000314752.7_Missense_Mutation_p.R37W P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 37 R -> Q. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 TCATCAGGCCGGGCCTGGAAG 0.652000 19 77 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50845169 50845169 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr22:50845169C>T ENST00000359139.3 + 4 673 c.279C>T c.(277-279)agC>agT p.S93S PPP6R2_ENST00000395741.3_Silent_p.S93S|PPP6R2_ENST00000216061.5_Silent_p.S93S|PPP6R2_ENST00000395744.3_Silent_p.S93S NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 93 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CGCAGATCAGCGACCGCCTCG 0.537000 123 101 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204016213 204016213 + Missense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:204016213C>G ENST00000449802.1 + 34 5734 c.5401C>G c.(5401-5403)Cta>Gta p.L1801V NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1801 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCACTGGAAGCTAGCTAATGT 0.323000 8 20 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766662 27766662 + Silent SNP T T C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chrX:27766662T>C ENST00000451261.2 + 5 2049 c.1650T>C c.(1648-1650)ctT>ctC p.L550L NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CCACTGAGCTTACTGGGTTAA 0.498000 4 5 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295516 62295516 + Missense_Mutation SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:62295516G>T ENST00000378024.4 - 5 6647 c.6373C>A c.(6373-6375)Cac>Aac p.H2125N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2125 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) CCTTTCAAGTGTAAGTCCACA 0.522000 89 262 2.41118e-28 2.61606e-28 1 1 0 EIF4G2 1982 broad.mit.edu 37 11 10825846 10825846 + Missense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:10825846C>G ENST00000526148.1 - 6 981 c.471G>C c.(469-471)caG>caC p.Q157H EIF4G2_ENST00000339995.5_Missense_Mutation_p.Q157H|EIF4G2_ENST00000396525.2_Missense_Mutation_p.Q157H|EIF4G2_ENST00000525681.1_Missense_Mutation_p.Q157H NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 157 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGCTTTGCTTCTGTCCTGGTT 0.413000 4 146 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169557876 169557876 + Missense_Mutation SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:169557876A>T ENST00000316428.5 - 9 1610 c.1553T>A c.(1552-1554)aTa>aAa p.I518K LRRC31_ENST00000264676.5_Missense_Mutation_p.I462K|LRRC31_ENST00000523069.1_3'UTR NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 518 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTTCATTCCTATCTCAGTGAT 0.408000 28 39 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603673 140603673 + Missense_Mutation SNP C C G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:140603673C>G ENST00000239449.4 + 1 596 c.596C>G c.(595-597)gCt>gGt p.A199G PCDHB14_ENST00000515856.2_Missense_Mutation_p.A46G NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 199 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTAGATAGAGCTTTAGATTAT 0.443000 19 72 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155230365 155230365 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:155230365G>A ENST00000355379.3 - 2 430 c.152C>T c.(151-153)cCc>cTc p.P51L SCAMP3_ENST00000302631.3_Missense_Mutation_p.P77L NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 77 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGGTTCTGTGGGGCTGAGCTT 0.607000 18 64 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148427438 148427438 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:148427438C>T ENST00000515425.1 - 3 367 c.266G>A c.(265-267)cGc>cAc p.R89H SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89H NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 89 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACAGCATGCGCACCTCCTG 0.527000 4 148 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48124481 48124481 + Silent SNP G G C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr20:48124481G>C ENST00000244043.4 - 10 1508 c.1479C>G c.(1477-1479)ccC>ccG p.P493P PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 493 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GGTAGCGGACGGGCACGTCGT 0.622000 18 57 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 6 86 0 0 1 0 0 ITPK1 3705 broad.mit.edu 37 14 93428702 93428702 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr14:93428702C>T ENST00000267615.6 - 7 675 c.502G>A c.(502-504)Gag>Aag p.E168K ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 168 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CCACTCACCTCGTGAGAGTTG 0.537000 5 38 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241761057 241761057 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:241761057C>T ENST00000366554.2 - 3 1042 c.936G>A c.(934-936)atG>atA p.M312I OPN3_ENST00000331838.5_Missense_Mutation_p.M233I|OPN3_ENST00000469376.1_5'UTR NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 312 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CCTTTCTGATCATGAAGACAT 0.383000 4 82 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17432128 17432128 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:17432128G>A ENST00000302539.4 - 22 2757 c.2632C>T c.(2632-2634)Cgg>Tgg p.R878W ABCC8_ENST00000389817.3_Missense_Mutation_p.R877W NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 877 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TTGTCGTCCCGGAGCAGCTCA 0.577000 36 109 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187538955 187538955 + Nonsense_Mutation SNP C C A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr4:187538955C>A ENST00000441802.2 - 10 8994 c.8785G>T c.(8785-8787)Gag>Tag p.E2929* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2929 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGGTCATCCTCACTCACAGTC 0.468000 HNSCC(5;0.00058) 15 60 1.05317e-09 1.09266e-09 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29599206 29599206 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr13:29599206C>T ENST00000431530.3 + 1 459 c.401C>T c.(400-402)aCg>aTg p.T134M NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 124 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTGCAGACCACGCGGAGTATT 0.502000 24 83 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14720279 14720279 + Missense_Mutation SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr9:14720279A>T ENST00000380911.3 - 2 657 c.613T>A c.(613-615)Tcc>Acc p.S205T NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 205 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) TGAGAGCAGGAGGTATGGGAG 0.517000 17 66 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62656015 62656015 + Silent SNP C C T rs143862119 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:62656015C>T ENST00000377892.1 + 13 2060 c.1836C>T c.(1834-1836)tcC>tcT p.S612S SLC3A2_ENST00000377891.2_Silent_p.S582S|SLC3A2_ENST00000536981.1_Silent_p.S126S|SLC3A2_ENST00000377890.2_Silent_p.S581S|SLC3A2_ENST00000338663.7_Silent_p.S480S|SLC3A2_ENST00000377889.2_Silent_p.S519S|SLC3A2_ENST00000535296.1_Silent_p.S550S P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 581 E -> G (in Ref. 4; AAA35536). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 TGCAGGCCTCCGACCTGCCTG 0.627000 29 132 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105836188 105836188 + Splice_Site SNP C C T rs111607386 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr10:105836188C>T ENST00000353479.5 - 5 493 c.e5-1 COL17A1_ENST00000393211.3_Splice_Site|COL17A1_ENST00000369733.3_Splice_Site NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GTGCTTCCAGCTGCAAGAGGG 0.527000 14 93 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22176563 22176563 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:22176563G>A ENST00000374695.3 - 57 7496 c.7417C>T c.(7417-7419)Cgc>Tgc p.R2473C HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2473 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGCCCCCGCGCTTGTGCCAC 0.657000 39 154 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24487949 24487949 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:24487949G>A ENST00000264463.4 - 12 2697 c.2190C>T c.(2188-2190)taC>taT p.Y730Y CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 730 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y730Y(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CAAGTGAGTCGTAGGGGGGTG 0.463000 HNSCC(23;0.051) 32 91 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499631 59499631 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:59499631C>T ENST00000307144.4 + 1 590 c.492C>T c.(490-492)gcC>gcT p.A164A MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 164 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GAAATGTGGCCATCTTCAAGT 0.423000 39 115 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 115 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20803433 20803433 + Missense_Mutation SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr16:20803433A>T ENST00000289416.5 + 11 1911 c.1436A>T c.(1435-1437)gAt>gTt p.D479V ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.D471V|ACSM3_ENST00000567387.1_3'UTR NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 479 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 AGAGCAGATGATGTCATATTA 0.398000 46 108 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124390517 124390517 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr3:124390517G>A ENST00000360013.3 + 48 6838 c.6711G>A c.(6709-6711)tcG>tcA p.S2237S KALRN_ENST00000459915.1_Silent_p.S329S|KALRN_ENST00000428018.2_Silent_p.S508S|KALRN_ENST00000393496.1_Silent_p.S578S|KALRN_ENST00000291478.4_Silent_p.S540S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2236 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CACTGCAATCGCCCATTGAGT 0.532000 4 105 0 0 1 0 0 IRF7 3665 broad.mit.edu 37 11 613849 613849 + Silent SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:613849T>A ENST00000397566.1 - 6 1231 c.822A>T c.(820-822)ccA>ccT p.P274P IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Silent_p.P232P|IRF7_ENST00000348655.6_Silent_p.P232P|IRF7_ENST00000525445.1_Silent_p.P155P|IRF7_ENST00000397574.2_Silent_p.P261P|IRF7_ENST00000330243.5_Silent_p.P274P NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 261 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|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;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGGGGACTCTGGGGCCGCGG 0.692000 3 7 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32486771 32486771 + Silent SNP A A T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chrX:32486771A>T ENST00000357033.4 - 23 3212 c.3006T>A c.(3004-3006)acT>acA p.T1002T DMD_ENST00000378677.2_Silent_p.T998T NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1002 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTCTTTCACAGTGGTGCTGA 0.393000 12 7 0 0 1 0 0 ZFPM1 161882 broad.mit.edu 37 16 88601258 88601258 + Silent SNP G G T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr16:88601258G>T ENST00000319555.3 + 10 3214 c.2892G>T c.(2890-2892)acG>acT p.T964T NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 964 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding p.T964T(1)|p.T964fs*39(1) central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) GCAAGGGCACGCCGGCGCCGC 0.701000 21 43 2.37509e-13 2.49535e-13 1 1 0 MRVI1 10335 broad.mit.edu 37 11 10622600 10622600 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:10622600G>A ENST00000547195.1 - 14 2109 c.1609C>T c.(1609-1611)Cgc>Tgc p.R537C MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 601 Interaction with ITPR1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTCGACATGCGCTTTTCCTGC 0.507000 55 188 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). 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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 15 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64815785 64815785 + Translation_Start_Site SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr11:64815785G>A ENST00000528884.1 - 0 144 NAALADL1_ENST00000355369.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000356632.3_Missense_Mutation_p.T389M|NAALADL1_ENST00000340252.4_Missense_Mutation_p.T475M|NAALADL1_ENST00000526799.1_De_novo_Start_InFrame|NAALADL1_ENST00000355721.3_Missense_Mutation_p.T383M|NAALADL1_ENST00000339885.2_Missense_Mutation_p.T424M|NAALADL1_ENST00000358658.3_Missense_Mutation_p.T424M Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 TGTGAATTCCGTGGAGCCAAT 0.632000 24 151 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769697 18769697 + RNA SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr22:18769697A>G ENST00000412448.1 - 0 981 GTTTTCCAGGACTGCCGCCAA 0.682000 5 180 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 65 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98238420 98238420 + Nonsense_Mutation SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr9:98238420T>A ENST00000430669.2 - 12 2011 c.1426A>T c.(1426-1428)Aag>Tag p.K476* PTCH1_ENST00000331920.6_Nonsense_Mutation_p.K542*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.K391*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.K391*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.K541*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.K476* Q13635 PTC1_HUMAN patched 1 542 SSD. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCTGTGCGCTTCAGGCACTCC 0.582000 7 28 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234104109 234104109 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:234104109C>T ENST00000359570.5 + 26 2625 c.2625C>T c.(2623-2625)caC>caT p.H875H INPP5D_ENST00000450745.1_Silent_p.H639H|INPP5D_ENST00000455936.2_Silent_p.H639H Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 887 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TCACCAGCCACGACCCCATGA 0.557000 25 99 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30672770 30672770 + Missense_Mutation SNP T T A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:30672770T>A ENST00000376406.3 - 10 4837 c.4190A>T c.(4189-4191)aAt>aTt p.N1397I MDC1_ENST00000376405.2_Missense_Mutation_p.N1133I|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1397 Interaction with the PRKDC complex.|Pro-rich. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGAGGATCTATTTTTTCTTCC 0.562000 Other conserved DNA damage response genes 46 117 0 0 1 0 0 CD40 958 broad.mit.edu 37 20 44751845 44751845 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr20:44751845C>T ENST00000372285.3 + 5 556 c.484C>T c.(484-486)Cac>Tac p.H162Y CD40_ENST00000372276.3_Missense_Mutation_p.H162Y|CD40_ENST00000489304.1_3'UTR NM_001250.4 NP_001241.1 P25942 TNR5_HUMAN CD40 molecule, TNF receptor superfamily member 5 162 B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) CGAAAAATGTCACCCTTGGAC 0.547000 Immune Deficiency with Hyper-IgM 85 135 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248685522 248685522 + Missense_Mutation SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr1:248685522C>T ENST00000343414.4 + 1 607 c.575C>T c.(574-576)aCg>aTg p.T192M NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTGTGGATACGACTTTCAAC 0.498000 14 34 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232320229 232320229 + Missense_Mutation SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:232320229G>A ENST00000322723.4 - 13 2179 c.1939C>T c.(1939-1941)Cct>Tct p.P647S NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 647 RRM 4. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TCACCCTTAGGTTTGGCCCAG 0.552000 7 295 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152298457 152298457 + Silent SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:152298457A>G ENST00000243326.4 + 15 2169 c.1686A>G c.(1684-1686)aaA>aaG p.K562K RIF1_ENST00000453091.2_Silent_p.K562K|RIF1_ENST00000444746.2_Silent_p.K562K|RIF1_ENST00000428287.2_Silent_p.K562K|RIF1_ENST00000430328.2_Silent_p.K562K|RIF1_ENST00000433166.2_3'UTR Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 562 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTCCTCAGAAAGTATTAGGTT 0.294000 7 34 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25953377 25953377 + Silent SNP C C T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:25953377C>T ENST00000356865.6 - 11 2526 c.2415G>A c.(2413-2415)gcG>gcA p.A805A NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 805 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCAGGCCTTCCGCCGCATACA 0.577000 31 59 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60609124 60609124 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr18:60609124A>G ENST00000400316.4 + 11 3379 c.1598A>G c.(1597-1599)tAt>tGt p.Y533C PHLPP1_ENST00000262719.5_Missense_Mutation_p.Y1045C NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1045 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CACATGGCCTATAACCGACTT 0.413000 14 38 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54542533 54542533 + Silent SNP G G A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr15:54542533G>A ENST00000545554.1 + 7 3339 c.3339G>A c.(3337-3339)gaG>gaA p.E1113E UNC13C_ENST00000260323.11_Silent_p.E1113E|UNC13C_ENST00000537900.1_Silent_p.E1111E Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1113 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACTGTTATGAGTGTGAAGGGC 0.507000 16 39 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64147706 64147706 + Missense_Mutation SNP A A G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:64147706A>G ENST00000354504.3 - 11 2055 c.1466T>C c.(1465-1467)aTg>aCg p.M489T VPS54_ENST00000409558.3_Missense_Mutation_p.M630T|VPS54_ENST00000272322.4_Missense_Mutation_p.M642T Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 642 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GAATGTTTCCATTAATCTAGA 0.328000 6 41 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 881689 881689 + Silent SNP G G C TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr19:881689G>C ENST00000312090.6 - 7 1161 c.1011C>G c.(1009-1011)ctC>ctG p.L337L MED16_ENST00000325464.1_Silent_p.L337L|MED16_ENST00000269814.4_Silent_p.L337L|MED16_ENST00000395808.3_Silent_p.L337L|MED16_ENST00000589119.1_Silent_p.L337L|MED16_ENST00000606828.1_Intron Q9Y2X0 MED16_HUMAN mediator complex subunit 16 337 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGCCATTTGAGAATTGTGG 0.572000 9 95 0 0 1 0 0 LOC101929551 101929551 broad.mit.edu 37 2 8035344 8035344 + RNA DEL C C - TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:8035344delC ENST00000416534.1 - 0 332 GCTGCTCTGTCCCCATGGTTA 0.522 2 4 --- --- --- --- ZNF513 130557 broad.mit.edu 37 2 27600959 27600960 + In_Frame_Ins INS - - AGCCTT TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:27600959_27600960insAGCCTT ENST00000323703.6 - 4 1276_1277 c.1078_1079insAAGGCT c.(1078-1080)tgc>AAGGCTtgc p.359_360insKA ZNF513_ENST00000407879.1_In_Frame_Ins_p.297_298insKA|ZNF513_ENST00000491924.1_Intron NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 359 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTACAGGCAAAGCCTTTGTCA 0.653 28 143 --- --- --- --- SLC39A10 57181 broad.mit.edu 37 2 196545000 196545001 + Frame_Shift_Ins INS - - T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr2:196545000_196545001insT ENST00000409086.3 + 2 509_510 c.234_235insT c.(232-237)tcttttfs p.SF78fs SLC39A10_ENST00000359634.5_Frame_Shift_Ins_p.SF78fs|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 78 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) GAAGATTATCCTTTTTTGGTTT 0.337 15 77 --- --- --- --- FAM159B 100132916 broad.mit.edu 37 5 63986522 63986522 + Frame_Shift_Del DEL C C - TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr5:63986522delC ENST00000389074.5 + 1 388 c.72delC c.(70-72)tgfs p.C24fs NM_001164442.1 NP_001157914.1 A6NKW6 F159B_HUMAN family with sequence similarity 159, member B 24 integral to membrane CCTTCCAGTGCCCCCGGCGCG 0.682 3 3 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36887446 36887447 + Frame_Shift_Del DEL TG TG - TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr6:36887446_36887447delTG ENST00000480824.2 + 8 1212_1213 c.918_919delTG c.(916-921)tctgfs p.SV306fs C6orf89_ENST00000359359.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.SV200fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.SV306fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.SV313fs Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 306 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 ATTGTCAGTCTGTGGCCATGCC 0.485 12 62 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 2 4 --- --- --- --- IPO8 10526 broad.mit.edu 37 12 30815384 30815385 + Frame_Shift_Ins INS - - A TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr12:30815384_30815385insA ENST00000256079.4 - 15 1969_1970 c.1631_1632insT c.(1630-1632)acafs p.T544fs IPO8_ENST00000544829.1_Frame_Shift_Ins_p.T339fs NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 544 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACAGTTCCTGCATAATAGGCCT 0.342 10 21 --- --- --- --- RFNG 5986 broad.mit.edu 37 17 80009484 80009484 + Frame_Shift_Del DEL G G - TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr17:80009484delG ENST00000310496.4 - 1 166 c.159delC c.(157-159)ccfs p.P53fs GPS1_ENST00000583983.1_Intron NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 53 cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GCCGCAGGCTgggggcagcgg 0.801 2 4 --- --- --- --- MC2R 4158 broad.mit.edu 37 18 13884807 13884807 + Frame_Shift_Del DEL A A - TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr18:13884807delA ENST00000327606.3 - 2 891 c.711delT c.(709-711)ctfs p.L237fs NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 237 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) AGAGGACATGAAGCACAAAGG 0.547 23 72 --- --- --- --- TCF3 6929 broad.mit.edu 37 19 1615665 1615666 + Frame_Shift_Ins INS - - CCGA TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr19:1615665_1615666insCCGA ENST00000395423.3 - 14 1479_1480 c.1452_1453insTCGG c.(1450-1455)cgactcfs p.L485fs TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron P15923 TFE2_HUMAN transcription factor 3 528 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGGGAGTGCCGAGGGGTGG 0.693 T """PBX1, HLF, TFPT""" pre B-ALL 17 64 --- --- --- --- STMN3 50861 broad.mit.edu 37 20 62273569 62273570 + Frame_Shift_Ins INS - - T TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr20:62273569_62273570insT ENST00000370053.1 - 4 455_456 c.374_375insA c.(373-375)aaafs p.K125fs STMN3_ENST00000540534.1_Frame_Shift_Ins_p.K114fs NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 125 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TGAAGTTGTTATTCTCCTCCAG 0.678 8 43 --- --- --- --- C21orf91 54149 broad.mit.edu 37 21 19169235 19169235 + Frame_Shift_Del DEL A A - TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr21:19169235delA ENST00000284881.4 - 3 418 c.328delT c.(328-330)ctfs p.S110fs C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.S110fs|C21orf91_ENST00000400558.3_Frame_Shift_Del_p.S110fs NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 110 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) GAACATTCAGAATCTGAATCC 0.343 19 80 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-F7-A61S-01A-11D-A28R-08 TCGA-F7-A61S-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d293487d-2d02-4748-b4f7-b0eaef469643 42f4fccd-7a92-4716-830d-48781baf3ea8 g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 3 3 --- --- --- ---