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 BIRC7 79444 broad.mit.edu 37 20 61870856 61870856 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr20:61870856C>T ENST00000217169.3 + 6 1010 c.796C>T c.(796-798)Ccg>Tcg p.P266S BIRC7_ENST00000395306.1_Missense_Mutation_p.P161S|BIRC7_ENST00000342412.6_Missense_Mutation_p.P248S NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 266 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CGTCTTTGTGCCGTGCGGCCA 0.701000 14 360 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829658 61829658 + Nonsense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr10:61829658G>A ENST00000280772.1 - 37 11172 c.10981C>T c.(10981-10983)Cag>Tag p.Q3661* ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3661 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TCCCCTGACTGTGGCTGTGGT 0.522000 9 21 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84558925 84558925 + Silent SNP T T C TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr15:84558925T>C ENST00000286744.5 + 11 1361 c.1137T>C c.(1135-1137)taT>taC p.Y379Y ADAMTSL3_ENST00000567476.1_Silent_p.Y379Y NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 379 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CTGACCATTATTGTCACTACT 0.413000 20 87 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38859674 38859674 + Missense_Mutation SNP G G T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr17:38859674G>T ENST00000264651.2 - 1 328 c.272C>A c.(271-273)tCt>tAt p.S91Y NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 91 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) GCCAAAGCTAGAACCCCCACC 0.567000 26 131 7.11191e-15 8.19415e-15 1 1 0 BIRC7 79444 broad.mit.edu 37 20 61870849 61870849 + Silent SNP C C G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr20:61870849C>G ENST00000217169.3 + 6 1003 c.789C>G c.(787-789)gtC>gtG p.V263V BIRC7_ENST00000395306.1_Silent_p.V158V|BIRC7_ENST00000342412.6_Silent_p.V245V NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 263 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) TGTCCATCGTCTTTGTGCCGT 0.697000 14 391 0 0 1 0 0 PET112 5188 broad.mit.edu 37 4 152609913 152609913 + Missense_Mutation SNP G G T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr4:152609913G>T ENST00000263985.6 - 10 1240 c.1200C>A c.(1198-1200)aaC>aaA p.N400K PET112_ENST00000515812.1_Missense_Mutation_p.N359K NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 400 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGCCGACTTCGTTCTGTTAAA 0.403000 9 48 0.000442599 0.00047873 1 1 0 DCAF6 55827 broad.mit.edu 37 1 167973797 167973797 + Missense_Mutation SNP A A G rs138263364 TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:167973797A>G ENST00000367840.3 + 10 1238 c.1144A>G c.(1144-1146)Act>Gct p.T382A DCAF6_ENST00000367843.3_Missense_Mutation_p.T382A|DCAF6_ENST00000432587.2_Missense_Mutation_p.T351A|DCAF6_ENST00000312263.6_Missense_Mutation_p.T382A NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 382 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AGatatttcaactcttcctac 0.368000 6 23 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81978960 81978960 + Missense_Mutation SNP T T G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr7:81978960T>G ENST00000356860.3 - 2 439 c.101A>C c.(100-102)aAa>aCa p.K34T CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K34T NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 34 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CACCCATGATTTGATACTGCA 0.363000 23 109 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 3 78 0 0 1 0 0 CYBRD1 79901 broad.mit.edu 37 2 172411171 172411171 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr2:172411171C>T ENST00000321348.4 + 4 893 c.695C>T c.(694-696)tCt>tTt p.S232F CYBRD1_ENST00000375252.3_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.S174F NM_024843.3 NP_079119.3 Q53TN4 CYBR1_HUMAN cytochrome b reductase 1 232 cellular iron ion homeostasis|electron transport chain|transmembrane transport integral to membrane ferric-chelate reductase activity|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3) 10 GAGCCAAATTCTACCATTCTT 0.473000 17 18 0 0 1 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 3 15 0 0 1 0 0 SLC10A1 6554 broad.mit.edu 37 14 70252932 70252932 + Missense_Mutation SNP A A T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr14:70252932A>T ENST00000216540.4 - 2 582 c.449T>A c.(448-450)cTg>cAg p.L150Q NM_003049.3 NP_003040.1 Q14973 NTCP_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 1 150 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) CTTGTCCTTCAGGTCCCCATC 0.527000 6 126 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31273061 31273061 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr16:31273061C>T ENST00000544665.3 + 2 148 c.77C>T c.(76-78)aCc>aTc p.T26I ITGAM_ENST00000287497.8_Missense_Mutation_p.T26I NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 26 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 AACGCAATGACCTTCCAAGAG 0.522000 4 40 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27942236 27942236 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:27942236G>A ENST00000374005.3 - 8 1090 c.802C>T c.(802-804)Cgg>Tgg p.R268W FGR_ENST00000545953.1_Missense_Mutation_p.R202W|FGR_ENST00000399173.1_Missense_Mutation_p.R268W|FGR_ENST00000374004.1_Missense_Mutation_p.R268W NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 268 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTGCCCAGCCGGCGCTCCAGC 0.701000 3 10 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 4 86 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33639806 33639806 + Silent SNP C C T rs144975503 TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr19:33639806C>T ENST00000361680.2 + 5 747 c.669C>T c.(667-669)tcC>tcT p.S223S WDR88_ENST00000355868.3_Silent_p.S223S Q6ZMY6 WDR88_HUMAN WD repeat domain 88 223 p.S223S(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) CCACCGTTTCCGTCATCAAAG 0.493000 11 46 0 0 1 0 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 2 6 0.0784 0.0784 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 67 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52790776 52790776 + Missense_Mutation SNP A A G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr12:52790776A>G ENST00000257974.2 - 6 1036 c.959T>C c.(958-960)gTc>gCc p.V320A RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 320 Coil 2.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CCCAGCTGTGACTCTCAGCTC 0.527000 11 50 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214638002 214638002 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:214638002C>T ENST00000366956.5 - 2 339 c.145G>A c.(145-147)Gct>Act p.A49T PTPN14_ENST00000543945.1_Missense_Mutation_p.A49T NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 49 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGGCCACAGCCTCCAGGCAT 0.577000 8 58 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47808039 47808039 + Nonsense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr11:47808039G>A ENST00000378460.2 - 32 3860 c.3814C>T c.(3814-3816)Cag>Tag p.Q1272* NUP160_ENST00000530326.1_Nonsense_Mutation_p.Q1158* NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 1272 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GATGAGAGCTGATTGGCTGCT 0.463000 10 68 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26881201 26881201 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:26881201C>T ENST00000374168.2 + 9 882 c.728C>T c.(727-729)gCg>gTg p.A243V RPS6KA1_ENST00000530003.1_Missense_Mutation_p.A227V|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.A252V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.A243V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.A151V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.A151V NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 243 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) TCCCATAGTGCGGACTGGTGG 0.577000 43 281 0 0 1 0 0 FAM222B 55731 broad.mit.edu 37 17 27085514 27085514 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr17:27085514G>A ENST00000341217.5 - 3 1678 c.1463C>T c.(1462-1464)gCg>gTg p.A488V FAM222B_ENST00000581407.1_Missense_Mutation_p.A488V|FAM222B_ENST00000452648.3_Missense_Mutation_p.A488V|FAM222B_ENST00000582266.1_3'UTR NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 488 GGGAGCTGCCGCACAGTCGAG 0.622000 3 80 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179526535 179526535 + Silent SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr2:179526535C>T ENST00000589042.1 - 180 37460 c.37236G>A c.(37234-37236)aaG>aaA p.K12412K TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10602 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGGCACTTTCTTTTCAAGGA 0.423000 12 65 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95665003 95665003 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr7:95665003G>A ENST00000324972.6 + 13 1547 c.1354G>A c.(1354-1356)Gtc>Atc p.V452I DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415I|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415I|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435I|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432I|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435I|DYNC1I1_ENST00000497626.1_3'UTR NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 452 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AACGGGAGACGTCAATAACTT 0.468000 5 242 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172563762 172563762 + Silent SNP A A G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr2:172563762A>G ENST00000358002.6 + 4 337 c.246A>G c.(244-246)gtA>gtG p.V82V DYNC1I2_ENST00000409773.1_Intron|DYNC1I2_ENST00000409317.1_Intron|DYNC1I2_ENST00000410079.3_Silent_p.V82V|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000397119.3_Intron|DYNC1I2_ENST00000340296.4_Intron|DYNC1I2_ENST00000263811.4_Intron|DYNC1I2_ENST00000534253.2_Intron|DYNC1I2_ENST00000409453.1_Intron|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000508530.1_Intron NM_001271787.1 NP_001258716.1 Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 76 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) CTCTCCGTGTAGTAACAGCGG 0.368000 9 42 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887122 179887122 + Silent SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:179887122C>T ENST00000435319.3 + 10 1691 c.1500C>T c.(1498-1500)aaC>aaT p.N500N TOR1AIP1_ENST00000271583.3_Silent_p.N516N NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 500 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 ACCATGAAAACGCGGCCTTCA 0.433000 14 78 0 0 1 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654815 161654815 + RNA SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:161654815C>T ENST00000426558.1 - 0 227 NR_002595.1 TATCAATGCGCGCATCTGGAG 0.507000 6 25 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 3 34 0 0 1 0 0 MT-TL1 0 broad.mit.edu 37 MT 3244 3244 + RNA SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chrM:3244G>A ENST00000386347.1 + 0 15 aagatggcagagcccggtaat 0.438000 3 30 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134074204 134074204 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr9:134074204G>A ENST00000359428.5 + 29 5467 c.5323G>A c.(5323-5325)Gcc>Acc p.A1775T NUP214_ENST00000451030.1_Missense_Mutation_p.A1776T|NUP214_ENST00000411637.2_Missense_Mutation_p.A1765T|NUP214_ENST00000483497.2_Missense_Mutation_p.A601T P35658 NU214_HUMAN nucleoporin 214kDa 1775 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CTTTGGTGCCGCCTCAAGTAC 0.557000 T """DEK, SET, ABL1""" """AML, T-ALL""" 4 89 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063462 170063462 + Missense_Mutation SNP A A C TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr2:170063462A>C ENST00000263816.3 - 39 7053 c.6768T>G c.(6766-6768)gaT>gaG p.D2256E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2256 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTGCAATTATATCTAAAGAAT 0.438000 25 116 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105025696 105025696 + Missense_Mutation SNP C C A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr8:105025696C>A ENST00000507740.1 + 16 2749 c.2513C>A c.(2512-2514)cCa>cAa p.P838Q RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1024Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.P863Q NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1086 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GATAGACAGCCATATCACAGA 0.478000 HNSCC(12;0.0054) 8 59 0.00448238 0.00456858 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20543236 20543236 + Missense_Mutation SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr4:20543236G>A ENST00000504154.1 + 20 2389 c.2137G>A c.(2137-2139)Gat>Aat p.D713N SLIT2_ENST00000273739.5_Missense_Mutation_p.D717N|SLIT2_ENST00000503823.1_Missense_Mutation_p.D705N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D709N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 713 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTTCACTTGTGATGACGGTAA 0.418000 17 72 0 0 1 0 0 CMTR2 55783 broad.mit.edu 37 16 71319086 71319086 + Missense_Mutation SNP T T A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr16:71319086T>A ENST00000338099.5 - 3 1074 c.738A>T c.(736-738)gaA>gaT p.E246D FTSJD1_ENST00000434935.2_Missense_Mutation_p.E246D Q8IYT2 FTSJ1_HUMAN 246 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAGCTTCTTGTTCACCTGGGT 0.413000 8 32 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186273248 186273248 + Missense_Mutation SNP C C G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:186273248C>G ENST00000445192.2 + 5 373 c.328C>G c.(328-330)Ccc>Gcc p.P110A PRG4_ENST00000367484.3_Missense_Mutation_p.P69A|PRG4_ENST00000367486.3_Missense_Mutation_p.P110A|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P69A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 110 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 AGTGCATAATCCCACATCACC 0.428000 16 74 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296555 39296555 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr17:39296555C>T ENST00000345847.4 - 1 184 c.185G>A c.(184-186)cGt>cAt p.R62H NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 62 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament p.R62H(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 gcagctgggacggcagcAGGT 0.667000 13 120 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32524972 32524972 + Missense_Mutation SNP C C A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr21:32524972C>A ENST00000286827.3 - 20 3819 c.3348G>T c.(3346-3348)gaG>gaT p.E1116D TIAM1_ENST00000541036.1_Missense_Mutation_p.E1056D NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1116 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GATCAACCTTCTCAAGCTTTT 0.403000 17 82 8.10497e-08 8.94924e-08 1 1 0 BIRC7 79444 broad.mit.edu 37 20 61870753 61870753 + Silent SNP T T C TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr20:61870753T>C ENST00000217169.3 + 6 907 c.693T>C c.(691-693)ctT>ctC p.L231L BIRC7_ENST00000395306.1_Intron|BIRC7_ENST00000342412.6_Intron NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 231 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) GGTGGGTTCTTGAGCCCCCAG 0.682000 9 296 0 0 1 0 0 KIAA1191 57179 broad.mit.edu 37 5 175782625 175782625 + Silent SNP G G A TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr5:175782625G>A ENST00000298569.4 - 4 689 c.156C>T c.(154-156)agC>agT p.S52S KIAA1191_ENST00000393728.2_Intron|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000510164.1_Silent_p.S52S|KIAA1191_ENST00000393725.2_Silent_p.S33S|KIAA1191_ENST00000533553.1_Intron NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 52 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) TCCAAGGGACGCTGCCCATGT 0.582000 30 159 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12989280 12989280 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr19:12989280C>T ENST00000222219.3 - 5 717 c.625G>A c.(625-627)Gaa>Aaa p.E209K DNASE2_ENST00000538460.1_Missense_Mutation_p.E154K NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 209 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 TTCCAGGGTTCTTGGCTAACG 0.532000 19 73 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100185475 100185475 + Missense_Mutation SNP G G C TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr10:100185475G>C ENST00000325103.6 - 13 1391 c.1158C>G c.(1156-1158)agC>agG p.S386R HPS1_ENST00000361490.4_Missense_Mutation_p.S386R|HPS1_ENST00000467246.1_5'UTR NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 386 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GCGCGCTGGGGCTCTGAGGGT 0.672000 Hermansky-Pudlak syndrome OREG0020430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 19 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88678414 88678414 + Silent SNP G G T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr15:88678414G>T ENST00000394480.1 - 10 1443 c.1122C>A c.(1120-1122)ggC>ggA p.G374G NTRK3_ENST00000540489.2_Silent_p.G374G|NTRK3_ENST00000557856.1_Silent_p.G374G|NTRK3_ENST00000355254.2_Silent_p.G374G|NTRK3_ENST00000317501.3_Silent_p.G374G|NTRK3_ENST00000360948.2_Silent_p.G374G|NTRK3_ENST00000558676.1_Silent_p.G374G|NTRK3_ENST00000357724.2_Silent_p.G374G|NTRK3_ENST00000542733.2_Silent_p.G276G NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 374 Ig-like C2-type 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGTATAGTTGCCATTGTTGT 0.542000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 4 116 0.00116845 0.00121427 1 1 0 OTOA 146183 broad.mit.edu 37 16 21693116 21693116 + Silent SNP G G T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr16:21693116G>T ENST00000388958.3 + 5 238 c.237G>T c.(235-237)cgG>cgT p.R79R OTOA_ENST00000286149.4_Silent_p.R79R NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 79 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TGAATTCCCGGAATGTTGCCT 0.522000 12 101 0.000566183 0.000600154 1 1 0 ZAN 7455 broad.mit.edu 37 7 100349878 100349878 + RNA SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr7:100349878C>T ENST00000542585.1 + 0 2298 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.P717L(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCCCC 0.507000 3 110 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11024705 11024705 + Silent SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr19:11024705C>T ENST00000327064.4 + 6 1012 c.822C>T c.(820-822)caC>caT p.H274H CARM1_ENST00000344150.4_Silent_p.H274H NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 274 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GCTACCTCCACGCCAAGAAGT 0.637000 8 22 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169020446 169020446 + Missense_Mutation SNP C C G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr5:169020446C>G ENST00000265295.4 + 4 704 c.425C>G c.(424-426)tCt>tGt p.S142C SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GAACTCCTCTCTTGTAAATCA 0.428000 3 67 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 4 8 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242466 55242480 + In_Frame_Del DEL GAATTAAGAGAAGCA GAATTAAGAGAAGCA - rs121913438 TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr7:55242466_55242480delGAATTAAGAGAAGCA ENST00000275493.2 + 19 2413_2427 c.2236_2250delGAATTAAGAGAAGCA c.(2236-2250)del p.ELREA746del EGFR_ENST00000454757.2_In_Frame_Del_p.ELREA693del|EGFR_ENST00000455089.1_In_Frame_Del_p.ELREA701del|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 746 Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_A750del(1)|p.T751_E758del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGCTATCAAGGAATTAAGAGAAGCAACATCTCCGA 0.474 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 65 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 142 --- --- --- --- PLEKHA7 144100 broad.mit.edu 37 11 16822525 16822525 + Frame_Shift_Del DEL A A - TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr11:16822525delA ENST00000355661.3 - 17 2415 c.2405delT c.(2404-2406)tcfs p.F802fs PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 802 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 GGTCACCTGGAAAAAAAAGGC 0.443 7 156 --- --- --- --- DDX28 55794 broad.mit.edu 37 16 68056773 68056773 + Frame_Shift_Del DEL G G - TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr16:68056773delG ENST00000332395.5 - 1 997 c.333delC c.(331-333)cgfs p.R111fs NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 111 mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) CCTGTTGCGCGCGCTCGATGG 0.687 2 4 --- --- --- --- OCSTAMP 128506 broad.mit.edu 37 20 45174825 45174827 + In_Frame_Del DEL GCA GCA - TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr20:45174825_45174827delGCA ENST00000279028.2 - 2 199_201 c.186_188delTGC c.(184-189)gca>gc p.AA62del NM_080721.1 NP_542452.1 Q9BR26 CT123_HUMAN osteoclast stimulatory transmembrane protein 62 Poly-Ala. integral to membrane breast(1)|endometrium(1) 2 AACCAGACCTGCAGCAGCAGCAG 0.621 2 4 --- --- --- --- DOPEY2 9980 broad.mit.edu 37 21 37603391 37603391 + Frame_Shift_Del DEL A A - TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chr21:37603391delA ENST00000399151.3 + 14 2394 c.2309delA c.(2308-2310)gafs p.E771fs NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 771 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTGTCCGAGGAAGAGACCGAG 0.607 33 193 --- --- --- --- AMOT 154796 broad.mit.edu 37 X 112022477 112022479 + In_Frame_Del DEL CAG CAG - TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2c7551a-59c5-4a63-89a6-fbd4beb38789 a7ebb399-2a4a-4256-804e-0c3df50d7a00 g.chrX:112022477_112022479delCAG ENST00000371959.3 - 10 2902_2904 c.2903_2905delCTG c.(2902-2907)gtt>g p.AV968del AMOT_ENST00000304758.1_In_Frame_Del_p.AV559del|AMOT_ENST00000524145.1_In_Frame_Del_p.AV968del|AMOT_ENST00000371962.1_In_Frame_Del_p.AV736del NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 968 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GCAACCTGAAcagcagcagcagc 0.616 2 4 --- --- --- ---