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 KRT37 8688 broad.mit.edu 37 17 39577780 39577780 + Silent SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:39577780G>C ENST00000225550.3 - 6 1079 c.1080C>G c.(1078-1080)gcC>gcG p.A360A AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 360 Coil 2.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) TCTGCATCTGGGCCAGCTCTG 0.572000 39 190 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413745 72413745 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:72413745C>T ENST00000395270.1 + 14 3459 c.2418C>T c.(2416-2418)tcC>tcT p.S806S POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1071 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CCACCAGCTCCGGCTTTGGAG 0.657000 10 227 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 7 337 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 5 138 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634365 122634365 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:122634365C>T ENST00000195173.4 - 14 2213 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691Q Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 637 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) ATCACAGGATCGAGCTCGACA 0.607000 22 251 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 19 344 0 0 1 0 0 REPIN1 29803 broad.mit.edu 37 7 150069256 150069256 + Missense_Mutation SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:150069256C>G ENST00000397281.2 + 4 1415 c.926C>G c.(925-927)tCt>tGt p.S309C REPIN1_ENST00000425389.2_Missense_Mutation_p.S309C|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Missense_Mutation_p.S309C|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.S309C|REPIN1_ENST00000489432.2_Missense_Mutation_p.S366C NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 309 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AACCTGCTGTCTCACAGCAAG 0.701000 11 72 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 19 216 0 0 1 0 0 PTPRB 0 broad.mit.edu 37 12 70965613 70965613 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:70965613C>T ENST00000334414.6 - 12 3141 c.3097G>A c.(3097-3099)Ggg>Agg p.G1033R PTPRB_ENST00000261266.5_Missense_Mutation_p.G815R|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1032R|PTPRB_ENST00000550857.1_Missense_Mutation_p.G725R|PTPRB_ENST00000538708.1_Missense_Mutation_p.G815R|PTPRB_ENST00000451516.2_Missense_Mutation_p.G725R|PTPRB_ENST00000550358.1_Missense_Mutation_p.G945R NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 815 Fibronectin type-III 12. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTTGTTCTCCCATTCCCTTGT 0.378000 11 386 0 0 1 0 0 PKN1 5585 broad.mit.edu 37 19 14581423 14581423 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:14581423G>A ENST00000242783.6 + 20 2638 c.2473G>A c.(2473-2475)Gac>Aac p.D825N PKN1_ENST00000342216.4_Missense_Mutation_p.D831N NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 825 Protein kinase. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 GGAGGTCTTCGACAGCATCGT 0.672000 8 80 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549440 33549440 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:33549440C>T ENST00000504830.1 - 21 4509 c.4174G>A c.(4174-4176)Gtg>Atg p.V1392M ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1307M NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1392 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CGGCTGTCCACGCACTGAATC 0.562000 HNSCC(64;0.19) 47 493 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89419767 89419767 + Splice_Site SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:89419767T>C ENST00000361175.4 + 1 396 c.e1+2 PAPSS2_ENST00000456849.1_Splice_Site NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CAAAAGACGGTAGGCTTCCAG 0.731000 7 84 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 7 292 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 22 86 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 12 539 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 288 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33455699 33455699 + Missense_Mutation SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:33455699T>C ENST00000265112.3 + 6 894 c.583T>C c.(583-585)Tct>Cct p.S195P TARS_ENST00000541634.1_Missense_Mutation_p.S91P|TARS_ENST00000502553.1_Missense_Mutation_p.S195P|TARS_ENST00000414361.2_Missense_Mutation_p.S74P|TARS_ENST00000455217.2_Missense_Mutation_p.S228P NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 195 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) CAGGGGTGTGTCTAGCAATGA 0.348000 55 244 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28459392 28459392 + Missense_Mutation SNP G G A rs138059246 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:28459392G>A ENST00000261609.7 - 41 6493 c.6385C>T c.(6385-6387)Cgc>Tgc p.R2129C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2129 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCCTGCGGGCGCACCCTGCGC 0.667000 8 214 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37746200 37746200 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:37746200G>A ENST00000539465.1 + 16 4764 c.4171G>A c.(4171-4173)Gca>Aca p.A1391T FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1391T|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1391 cytoskeleton|cytosol|plasma membrane p.A1391T(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CTGCACCACCGCACCCCTGTC 0.662000 20 355 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923248 158923248 + Silent SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:158923248G>C ENST00000367097.3 + 13 3910 c.2553G>C c.(2551-2553)ccG>ccC p.P851P TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 851 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGCACCCCCGCCCCCTCTGC 0.657000 9 57 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52726995 52726995 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:52726995C>T ENST00000394799.2 + 10 1151 c.941C>T c.(940-942)gCa>gTa p.A314V GNL3_ENST00000418458.1_Missense_Mutation_p.A326V NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 326 G.|Intermediate (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) CGAAGTCCAGCAAGTATTGAA 0.498000 40 355 0 0 1 0 0 PCDHB3 0 broad.mit.edu 37 5 140482020 140482020 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:140482020C>T ENST00000231130.2 + 1 1787 c.1787C>T c.(1786-1788)tCg>tTg p.S596L NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 596 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCGACTCGGGCCAGAAC 0.716000 45 558 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32740612 32740612 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:32740612G>A ENST00000545067.1 + 2 338 c.42G>A c.(40-42)tcG>tcA p.S14S CCDC7_ENST00000535327.1_Silent_p.S14S|CCDC7_ENST00000277657.6_Silent_p.S14S|CCDC7_ENST00000539197.1_Silent_p.S14S|CCDC7_ENST00000362006.5_Silent_p.S14S|CCDC7_ENST00000537047.1_Silent_p.S14S Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 14 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) GTAACAAATCGGCAAATGTTC 0.323000 52 282 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697836 113697836 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:113697836G>A ENST00000297405.5 - 15 2525 c.2281C>T c.(2281-2283)Ctt>Ttt p.L761F CSMD3_ENST00000343508.3_Missense_Mutation_p.L721F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L657F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L761F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 761 CUB 4. integral to membrane|plasma membrane p.L721V(2)|p.L761V(2) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGAAAGAAAGATGTATCCGG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 517 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 6 134 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 6 281 0 0 1 0 0 MFAP3L 9848 broad.mit.edu 37 4 170926893 170926893 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:170926893C>T ENST00000361618.3 - 2 443 c.136G>A c.(136-138)Gtg>Atg p.V46M MFAP3L_ENST00000506110.1_Missense_Mutation_p.V46M|MFAP3L_ENST00000393702.3_Missense_Mutation_p.V46M NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 46 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) ATTACGGGCACAGAGCCCAAG 0.458000 46 396 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106054658 106054658 + RNA SNP T T G rs114771275 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:106054658T>G ENST00000390539.2 - 0 74 GGACCAGGCATGCGACGACCA 0.622000 7 311 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510886 5510886 + Nonsense_Mutation SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:5510886C>A ENST00000322641.5 + 1 972 c.950C>A c.(949-951)tCa>tAa p.S317* AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S317L(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGAAGACTTCAATATGAATG 0.423000 24 351 3.28513e-13 3.5086e-13 1 1 0 FAT2 2196 broad.mit.edu 37 5 150907687 150907687 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:150907687G>A ENST00000261800.5 - 15 10046 c.10034C>T c.(10033-10035)gCg>gTg p.A3345V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3345 Cadherin 30. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCATCAGTCGCTGATACCTG 0.532000 91 419 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74813157 74813157 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:74813157C>T ENST00000412021.2 - 7 988 c.655G>A c.(655-657)Gga>Aga p.G219R P4HA1_ENST00000263556.3_Missense_Mutation_p.G219R|P4HA1_ENST00000307116.2_Missense_Mutation_p.G219R|P4HA1_ENST00000373008.2_Missense_Mutation_p.G219R|P4HA1_ENST00000394890.2_Missense_Mutation_p.G219R|P4HA1_ENST00000440381.1_Missense_Mutation_p.G219R NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 219 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCCAGGTCTCCCTGCTGATAT 0.398000 47 603 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 10 663 0.000442599 0.000445437 1 1 0 PSG7 5676 broad.mit.edu 37 19 43430713 43430713 + RNA SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:43430713G>A ENST00000446844.3 - 0 954 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TTTTCAATGCGTCGCTTTACC 0.493000 162 1936 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11595630 11595630 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:11595630G>A ENST00000294484.6 + 20 3883 c.3745G>A c.(3745-3747)Gtg>Atg p.V1249M PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1249M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R135H NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1249 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TGGCTCCTCCGTGGATTACTG 0.647000 30 395 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22025599 22025599 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:22025599C>T ENST00000261200.4 - 16 2157 c.2158G>A c.(2158-2160)Ggt>Agt p.G720S RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.G684S|ABCC9_ENST00000261201.4_Missense_Mutation_p.G720S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 720 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.G720C(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGCATCTCACCGAGGATGGCA 0.418000 64 806 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367212 367212 + Missense_Mutation SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:367212A>G ENST00000240499.7 + 4 1135 c.986A>G c.(985-987)cAt>cGt p.H329R ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 329 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 CTTACTAAACATAAGAGAATT 0.373000 40 334 0 0 1 0 0 PRG2 5553 broad.mit.edu 37 11 57156526 57156526 + Missense_Mutation SNP C C T rs146040085 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:57156526C>T ENST00000311862.5 - 3 396 c.323G>A c.(322-324)cGc>cAc p.R108H PRG2_ENST00000533605.1_Missense_Mutation_p.R108H|PRG2_ENST00000525955.1_Missense_Mutation_p.R108H|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.R213H NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 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) CAGGAGGTAGCGGCAGGTCTG 0.547000 10 460 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 108023321 108023321 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:108023321G>A ENST00000370067.1 + 7 1869 c.1242G>A c.(1240-1242)acG>acA p.T414T NTNG1_ENST00000370070.2_Silent_p.T414T|NTNG1_ENST00000370071.2_Silent_p.T434T|NTNG1_ENST00000370072.3_Silent_p.T448T|NTNG1_ENST00000370073.2_Silent_p.T493T|NTNG1_ENST00000370066.1_Silent_p.T434T|NTNG1_ENST00000370074.4_Silent_p.T392T|NTNG1_ENST00000370068.1_Silent_p.T493T|NTNG1_ENST00000542803.1_Silent_p.T493T|NTNG1_ENST00000370061.3_Silent_p.T459T|NTNG1_ENST00000370065.1_Silent_p.T448T Q9Y2I2 NTNG1_HUMAN netrin G1 445 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CCGCATACACGGGCATCCTCT 0.687000 9 136 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 6 68 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113261346 113261346 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:113261346G>A ENST00000401783.2 - 7 1992 c.1656C>T c.(1654-1656)gtC>gtT p.V552V SVEP1_ENST00000374461.1_Silent_p.V529V|SVEP1_ENST00000302728.8_Silent_p.V552V|SVEP1_ENST00000374469.1_Silent_p.V529V|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 552 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CCTGAACTCCGACATTCCATT 0.413000 17 153 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71896785 71896785 + Missense_Mutation SNP G G A rs143939123 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:71896785G>A ENST00000258104.3 + 50 5853 c.5576G>A c.(5575-5577)cGt>cAt p.R1859H DYSF_ENST00000409651.1_Missense_Mutation_p.R1891H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R1881H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1898H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1860H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1876H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1890H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1877H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1897H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1867H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1880H NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1859 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.R1859H(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GTGCATTATCGTTCCCTGGGA 0.438000 46 476 0 0 1 0 0 CYP11B1 0 broad.mit.edu 37 8 143961141 143961141 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:143961141C>T ENST00000292427.4 - 1 121 c.89G>A c.(88-90)cGg>cAg p.R30Q CYP11B1_ENST00000377675.3_Missense_Mutation_p.R30Q|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R30Q NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 30 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.R30Q(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CCTGGGGACCCGGGCGGCTCT 0.647000 Familial Hyperaldosteronism type I 8 453 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103801 53103801 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:53103801G>A ENST00000408890.4 + 1 453 c.437G>A c.(436-438)cGt>cAt p.R146H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 146 p.R146H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCCTGAGCGTCAGGAGAGC 0.711000 32 180 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70617453 70617453 + Missense_Mutation SNP C C T rs141622109 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:70617453C>T ENST00000260126.3 - 6 2141 c.1435G>A c.(1435-1437)Gtc>Atc p.V479I SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V424I|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.V479I NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 479 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GCACTGGGGACGATAATAACC 0.413000 35 253 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88702455 88702455 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:88702455C>T ENST00000372027.4 - 6 2159 c.2086G>A c.(2086-2088)Ggg>Agg p.G696R NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 696 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 CGCGCCAGCCCGGCCAGGGCG 0.776000 9 60 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 5 59 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41566830 41566830 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:41566830C>T ENST00000262415.3 + 2 234 c.162C>T c.(160-162)atC>atT p.I54I DHX8_ENST00000540306.1_Silent_p.I54I NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 54 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AATTTGTGATCAGTCTTGCTG 0.333000 55 424 0 0 1 0 0 FGD3 89846 broad.mit.edu 37 9 95773521 95773521 + Silent SNP C C T rs140324424 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:95773521C>T ENST00000375482.3 + 8 1498 c.1002C>T c.(1000-1002)gcC>gcT p.A334A FGD3_ENST00000416701.2_Silent_p.A334A|FGD3_ENST00000337352.6_Silent_p.A334A NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 334 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.A334A(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TCTCCACAGCCGCCAACCACT 0.632000 29 445 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151288137 151288137 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:151288137C>T ENST00000368875.2 - 3 1437 c.857G>A c.(856-858)cGc>cAc p.R286H PI4KB_ENST00000271657.5_Missense_Mutation_p.R286H|PI4KB_ENST00000368872.1_Missense_Mutation_p.R274H|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.R274H|PI4KB_ENST00000368874.4_Missense_Mutation_p.R274H NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 274 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGACTTAGAGCGCTGGTGAGT 0.547000 35 386 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427885 3427885 + RNA SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:3427885A>G ENST00000529482.1 + 0 1002 AGCTTCACAGATCCACCGCTG 0.587000 5 106 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103453235 103453235 + Missense_Mutation SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:103453235G>C ENST00000358392.2 - 30 2809 c.2492C>G c.(2491-2493)gCa>gGa p.A831G COL11A1_ENST00000370096.3_Missense_Mutation_p.A819G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A780G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A703G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 819 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGTTGGGCCTGCTCGACCTTT 0.473000 26 352 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 10 688 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083353 44083353 + Missense_Mutation SNP A A T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:44083353A>T ENST00000262726.7 - 11 1393 c.1140T>A c.(1138-1140)aaT>aaA p.N380K EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.N380K(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTACATACCTATTTCTTTTTG 0.299000 28 141 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 7 281 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13915898 13915898 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:13915898G>A ENST00000254323.2 + 3 837 c.648G>A c.(646-648)ctG>ctA p.L216L ZSWIM4_ENST00000440752.2_5'UTR NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 216 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CTGAGGTGCTGCCCACTGCTC 0.622000 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 186 0 0 1 0 0 CHST4 10164 broad.mit.edu 37 16 71570744 71570744 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:71570744C>T ENST00000338482.5 + 3 507 c.164C>T c.(163-165)tCt>tTt p.S55F ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.S55F|CHST4_ENST00000572450.1_Missense_Mutation_p.S55F|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 55 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CGCTCTGGCTCTTCTTTTGTG 0.567000 38 469 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117307888 117307888 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:117307888G>A ENST00000321322.6 - 26 4851 c.4850C>T c.(4849-4851)gCg>gTg p.A1617V DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1347V NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1557 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCCGCAGCCCGCACTGTTGCA 0.642000 32 440 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190953 39190953 + Missense_Mutation SNP G G C rs78298475 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:39190953G>C ENST00000344363.5 - 1 154 c.121C>G c.(121-123)Cag>Gag p.Q41E NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 51 Missing (in allele KAP1.1). extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AAGCTGGTCTGGCAGCAGCTT 0.607000 11 389 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30339377 30339377 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:30339377G>A ENST00000361371.4 - 10 1586 c.1436C>T c.(1435-1437)aCa>aTa p.T479I LTN1_ENST00000389195.2_Missense_Mutation_p.T525I|LTN1_ENST00000389194.2_Missense_Mutation_p.T525I NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 479 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GTTGTGAGCTGTTTTTTCATC 0.438000 54 594 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64410040 64410040 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:64410040C>T ENST00000301894.2 - 1 747 c.236G>A c.(235-237)cGc>cAc p.R79H NRXN2_ENST00000377551.1_Intron|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000265459.6_Intron NM_138734.2 NP_620063.1 Q9P2S2 NRX2A_HUMAN neurexin 2 0 Laminin G-like 1. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GAAGGGCATGCGGTTGATGGC 0.726000 4 84 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237632473 237632473 + Missense_Mutation SNP T T C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:237632473T>C ENST00000366574.2 + 17 2011 c.1694T>C c.(1693-1695)cTg>cCg p.L565P RYR2_ENST00000542537.1_Missense_Mutation_p.L549P|RYR2_ENST00000360064.6_Missense_Mutation_p.L563P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 565 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGGAAAGACTGGAAGCTTCT 0.358000 42 246 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649486 136649486 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:136649486C>T ENST00000287538.5 + 1 1186 c.636C>T c.(634-636)gcC>gcT p.A212A ZIC3_ENST00000370606.3_Silent_p.A212A NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 212 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CCTACGCGGCCGGCGCTCAGT 0.662000 22 200 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 5 102 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 6 102 1.26484e-09 1.30645e-09 1 1 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 5 93 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7223159 7223159 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:7223159G>A ENST00000217961.4 + 7 1251 c.1031G>A c.(1030-1032)gGa>gAa p.G344E NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 344 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TCGGACCAGGGAGCACATGTA 0.458000 Ichthyosis 27 273 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 8 468 9.05144e-12 9.47384e-12 1 1 0 ASB15 142685 broad.mit.edu 37 7 123254593 123254593 + Missense_Mutation SNP A A G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:123254593A>G ENST00000451558.1 + 6 558 c.37A>G c.(37-39)Aca>Gca p.T13A RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.T13A|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Missense_Mutation_p.T13A|ASB15_ENST00000540573.1_Missense_Mutation_p.T13A|ASB15_ENST00000434204.1_Missense_Mutation_p.T13A Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 13 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGACCATCTTACAAGTTATGA 0.363000 83 867 0 0 1 0 0 PACSIN1 0 broad.mit.edu 37 6 34498289 34498289 + Missense_Mutation SNP A A C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:34498289A>C ENST00000538621.1 + 8 1207 c.962A>C c.(961-963)aAg>aCg p.K321T PACSIN1_ENST00000374043.2_Missense_Mutation_p.K279T|PACSIN1_ENST00000244458.2_Missense_Mutation_p.K321T NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 321 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 AAACAGCCTAAGAAGGCAGAG 0.632000 8 114 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 74 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180039570 180039570 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:180039570G>A ENST00000261937.6 - 26 3551 c.3473C>T c.(3472-3474)gCg>gTg p.A1158V FLT4_ENST00000502649.1_Missense_Mutation_p.A1158V|FLT4_ENST00000393347.3_Missense_Mutation_p.A1158V NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1158 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TGCAGGTCTCGCCTTGGGGTC 0.642000 100 447 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1254756 1254756 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:1254756C>T ENST00000540437.1 - 6 822 c.367G>A c.(367-369)Gag>Aag p.E123K CPSF3L_ENST00000450926.2_Missense_Mutation_p.E117K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E88K|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E117K|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000411962.1_Intron NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 117 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) AAGTTGGCCTCGCCCTTCTTG 0.597000 203 876 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 20 309 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 6 227 0 0 1 0 0 GFER 2671 broad.mit.edu 37 16 2034871 2034871 + Missense_Mutation SNP G G T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:2034871G>T ENST00000248114.6 + 2 388 c.382G>T c.(382-384)Gac>Tac p.D128Y GFER_ENST00000569451.1_Intron|GFER_ENST00000567719.1_Missense_Mutation_p.D53Y NM_005262.2 NP_005253.3 P55789 ALR_HUMAN growth factor, augmenter of liver regeneration 128 ERV/ALR sulfhydryl oxidase. cell proliferation|spermatogenesis extracellular region|mitochondrial intermembrane space growth factor activity|thiol oxidase activity endometrium(1)|large_intestine(1)|lung(3) 5 ACAGCAGCAAGACATGGCCCA 0.567000 34 418 4.11147e-13 4.3615e-13 1 1 0 SRPK3 26576 broad.mit.edu 37 X 153048258 153048258 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:153048258C>T ENST00000489426.1 + 12 3074 c.708C>T c.(706-708)caC>caT p.H236H SRPK3_ENST00000370101.3_Silent_p.H169H|SRPK3_ENST00000370100.1_Silent_p.H127H|SRPK3_ENST00000370108.3_Silent_p.H169H|SRPK3_ENST00000393786.3_Silent_p.H169H|SRPK3_ENST00000370104.1_Silent_p.H169H Q9UPE1 SRPK3_HUMAN SRSF protein kinase 3 169 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1) 13 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTGGGCCACCAGCTCCTCA 0.652000 19 116 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78213739 78213739 + RNA SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:78213739C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTCTTGAATACGCTGCAAGGC 0.572000 6 260 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 12 136 0 0 1 0 0 GPM6B 2824 broad.mit.edu 37 X 13803924 13803924 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:13803924C>T ENST00000454189.2 - 2 135 c.8G>A c.(7-9)tGc>tAc p.C3Y GPM6B_ENST00000355135.2_Missense_Mutation_p.C62Y|GPM6B_ENST00000316715.4_Missense_Mutation_p.C62Y|GPM6B_ENST00000356942.5_Missense_Mutation_p.C22Y|GPM6B_ENST00000493677.1_Missense_Mutation_p.C36Y|GPM6B_ENST00000398361.3_5'UTR NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B 22 cell differentiation|nervous system development integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 GCATTCAAAGCAGCCTGAACC 0.527000 19 133 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6650981 6650981 + Missense_Mutation SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:6650981C>G ENST00000299441.3 - 11 5368 c.4957G>C c.(4957-4959)Gag>Cag p.E1653Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1653 Cadherin 16. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACGCTGTACTCCTGCTGCTGG 0.647000 27 168 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:11058168A>T ENST00000470054.1 - 0 479 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) TACATCTTTCAGGAGCTTGGT 0.388000 11 758 0 0 1 0 0 RORC 0 broad.mit.edu 37 1 151789160 151789160 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:151789160G>A ENST00000356728.6 - 3 369 c.215C>T c.(214-216)gCg>gTg p.A72V RORC_ENST00000392697.3_Missense_Mutation_p.A147V|RORC_ENST00000318247.6_Missense_Mutation_p.A93V NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 93 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 autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CATGCCCAGCGCCAGGCATTT 0.647000 14 49 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170979 207170979 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:207170979C>T ENST00000374423.3 + 5 2113 c.1727C>T c.(1726-1728)tCg>tTg p.S576L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 576 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACTATGGATCGAGTTGTTCT 0.438000 16 186 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 7 312 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88659808 88659808 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:88659808G>A ENST00000372037.2 + 7 992 c.455G>A c.(454-456)cGa>cAa p.R152Q NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 152 BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 GGCAGCATTCGATGGCTGGTT 0.353000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 41 506 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43531559 43531559 + Silent SNP G G C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:43531559G>C ENST00000430334.3 - 7 1792 c.1659C>G c.(1657-1659)ctC>ctG p.L553L PLEKHM1_ENST00000421073.2_Silent_p.L464L|AC091132.1_ENST00000433601.1_RNA NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 553 PH 1. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GCTCGCAGAAGAGCTCCTTCC 0.627000 25 97 0 0 1 0 0 BEST1 7439 broad.mit.edu 37 11 61719315 61719315 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:61719315C>T ENST00000378043.4 + 2 680 c.37C>T c.(37-39)Cgc>Tgc p.R13C BEST1_ENST00000449131.2_Intron|BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R13C|BEST1_ENST00000534553.1_Intron NM_004183.3 NP_004174.1 O76090 BEST1_HUMAN bestrophin 1 13 R -> H (in VMD2). response to stimulus|transepithelial chloride transport|visual perception basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction chloride channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 GGCTAATGCCCGCTTAGGCTC 0.572000 37 484 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169528443 169528443 + Missense_Mutation SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:169528443C>A ENST00000367796.3 - 5 879 c.678G>T c.(676-678)caG>caT p.Q226H F5_ENST00000546081.1_Missense_Mutation_p.Q89H|F5_ENST00000367797.3_Missense_Mutation_p.Q226H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 226 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGGATGATGACTGGCTCCAGC 0.433000 77 428 3.00167e-28 3.36616e-28 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 36 81 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1654058 1654058 + Translation_Start_Site SNP C C T rs61777495 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:1654058C>T ENST00000356200.3 - 0 212 CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000358779.5_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AAGAACTTCACCGAAGAAGCG 0.338000 6 218 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23898246 23898246 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:23898246C>T ENST00000355349.3 - 14 1487 c.1325G>A c.(1324-1326)cGc>cAc p.R442H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 442 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGCATTGATGCGCGTCACCAT 0.557000 30 478 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3422767 3422767 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:3422767C>T ENST00000356575.4 - 15 2049 c.1823G>A c.(1822-1824)cGc>cAc p.R608H MEGF6_ENST00000294599.4_Missense_Mutation_p.R503H NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 608 EGF-like 11. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCATTTCTTGCGACAGTGCTT 0.657000 6 57 0 0 1 0 0 DHRSX 207063 broad.mit.edu 37 X 2161133 2161133 + Silent SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:2161133C>T ENST00000334651.5 - 6 787 c.735G>A c.(733-735)acG>acA p.T245T NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 245 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGTAGACGTCCGTGTTGACCA 0.617000 21 305 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839350 62839350 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:62839350G>A ENST00000536311.1 + 7 1165 c.801G>A c.(799-801)gaG>gaA p.E267E MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 267 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaggaagaggagg 0.577000 6 133 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480175 73480175 + Missense_Mutation SNP C C A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:73480175C>A ENST00000523207.1 + 2 794 c.206C>A c.(205-207)aCa>aAa p.T69K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 69 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GACTGCAACACACACGAGAGC 0.522000 45 436 1.06522e-23 1.17774e-23 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 18 579 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769203 18769203 + RNA SNP G G A rs111245818 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:18769203G>A ENST00000412448.1 - 0 1083 AGCCAGCCGCGGCAGGGTCAG 0.637000 37 257 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74394734 74394734 + RNA SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:74394734C>T ENST00000429810.2 - 0 231 TTCCAACAATCGACAGCAACC 0.512000 8 210 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769183 247769183 + Missense_Mutation SNP C C T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:247769183C>T ENST00000320002.2 + 1 328 c.296C>T c.(295-297)gCg>gTg p.A99V RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A99G(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTTGTGTGGCGCAACTCTAT 0.483000 121 1235 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190954 39190954 + Silent SNP G G A rs71300033 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:39190954G>A ENST00000344363.5 - 1 153 c.120C>T c.(118-120)tgC>tgT p.C40C NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 40 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGTCTGGCAGCAGCTTG 0.607000 11 386 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T rs28934874 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:7578479G>T ENST00000420246.2 - 5 583 c.451C>A c.(451-453)Ccc>Acc p.P151T TP53_ENST00000269305.4_Missense_Mutation_p.P151T|TP53_ENST00000413465.2_Missense_Mutation_p.P151T|TP53_ENST00000359597.4_Missense_Mutation_p.P151T|TP53_ENST00000445888.2_Missense_Mutation_p.P151T|TP53_ENST00000455263.2_Missense_Mutation_p.P151T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612000 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) 45 221 1.30409e-13 1.40234e-13 1 1 0 GNL3 26354 broad.mit.edu 37 3 52726994 52726994 + Missense_Mutation SNP G G T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:52726994G>T ENST00000394799.2 + 10 1150 c.940G>T c.(940-942)Gca>Tca p.A314S GNL3_ENST00000418458.1_Missense_Mutation_p.A326S NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 326 G.|Intermediate (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) GCGAAGTCCAGCAAGTATTGA 0.498000 40 358 3.33393e-15 3.60985e-15 1 1 0 ZNF681 148213 broad.mit.edu 37 19 23927097 23927097 + Missense_Mutation SNP C C G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:23927097C>G ENST00000402377.3 - 4 1396 c.1255G>C c.(1255-1257)Gaa>Caa p.E419Q ZNF681_ENST00000395385.3_Missense_Mutation_p.E350Q NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TAGGGTTTTTCTCCAGTATGA 0.368000 17 275 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 27964309 27964309 + Missense_Mutation SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:27964309G>A ENST00000375790.5 - 7 1340 c.908C>T c.(907-909)aCg>aTg p.T303M MKX_ENST00000419761.1_Missense_Mutation_p.T303M Q8IYA7 MKX_HUMAN mohawk homeobox 303 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CTTCCAATACGTGTCATCCTT 0.458000 58 625 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130935797 130935797 + Silent SNP G G A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:130935797G>A ENST00000261655.4 - 5 559 c.396C>T c.(394-396)tcC>tcT p.S132S RIMBP2_ENST00000536002.1_Silent_p.S40S|RIMBP2_ENST00000535703.1_Silent_p.S40S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 132 cell junction|synapse p.S132S(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGGGCTTGGCGGACAGAGGCT 0.642000 71 318 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 8 382 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 9 436 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991402 52991403 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:52991402_52991403insT ENST00000371544.3 - 2 812_813 c.550_551insA c.(550-552)tccfs p.S184fs ZCCHC11_ENST00000257177.4_Frame_Shift_Ins_p.S184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Ins_p.S184fs|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 184 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GGAGCTTGGAATTTTTTTTCCA 0.406 11 1469 --- --- --- --- LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 29 415 --- --- --- --- RBMXL1 494115 broad.mit.edu 37 1 89448500 89448501 + In_Frame_Ins INS - - CAT TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:89448500_89448501insCAT ENST00000399794.2 - 3 1724_1725 c.1009_1010insATG c.(1009-1011)ttg>ATGttg p.336_337insM CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.336_337insM|CCBL2_ENST00000370491.3_Intron NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 336 Ser-rich. nucleotide binding|RNA binding CCTGTCACAACTTGAGTAGAGA 0.500 11 1438 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 8 1834 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 15 270 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 11 464 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 16 230 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 11 345 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 8 114 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 11 67 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 13 100 --- --- --- --- RP5-998N21.4 0 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 12 45 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 17 382 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 18 1026 --- --- --- --- DUSP27 92235 broad.mit.edu 37 1 167095398 167095400 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:167095398_167095400delGAG ENST00000361200.2 + 6 1196_1198 c.1030_1032delGAG c.(1030-1032)del p.E348del DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 348 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CCTCATAGACGAGGAGGAGGAGG 0.655 7 64 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 9 1180 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276524 186276526 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:186276524_186276526delAGG ENST00000445192.2 + 7 1718_1720 c.1673_1675delAGG c.(1672-1677)aag>a p.KE558del PRG4_ENST00000367483.4_In_Frame_Del_p.KE517del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.KE515del|PRG4_ENST00000367485.4_In_Frame_Del_p.KE465del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 558 59 X 8 AA repeats of K-X-P-X-P-T-T-X. 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 ACCACCACCAAGGAGCCTGCACC 0.635 8 827 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del|RP11-569A11.1_ENST00000428573.1_RNA NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 9 546 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214549710 214549710 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:214549710delT ENST00000366956.5 - 15 2953 c.2759delA c.(2758-2760)agfs p.K920fs PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 920 Tyrosine-protein phosphatase. 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) GCCATTCGCCTTTTTCTTTGG 0.458 7 949 --- --- --- --- OR2T33 391195 broad.mit.edu 37 1 248437112 248437112 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr1:248437112delT ENST00000318021.2 - 1 26 c.5delA c.(4-6)ggfs p.E2fs NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATTTCTCATCTCCATAATTTC 0.428 13 604 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 9 788 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 11 1032 --- --- --- --- CHMP3 51652 broad.mit.edu 37 2 86732976 86732978 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:86732976_86732978delTCC ENST00000263856.4 - 6 746_748 c.618_620delGGA c.(616-621)gaa>ga p.EE206del RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 charged multivesicular body protein 3 CAGAGCCTCTTCCTCCTCCTCCT 0.616 7 455 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:100218011_100218013delGCT ENST00000317233.4 - 13 1490_1492 c.1255_1257delAGC c.(1255-1257)del p.S419del AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 419 Poly-Ser. 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 tgctgctgccgctgctgctgctg 0.685 10 90 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 8 834 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 8 558 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 10 2758 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 8 576 --- --- --- --- CSRNP1 64651 broad.mit.edu 37 3 39185116 39185117 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:39185116_39185117delAG ENST00000273153.5 - 5 1376_1377 c.1199_1200delCT c.(1198-1200)tfs p.S400fs CSRNP1_ENST00000514182.1_Frame_Shift_Del_p.S400fs NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 400 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CACCGAAGTCAGAGTCACTGAA 0.604 16 222 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 8 352 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 7 309 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 8 554 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 12 498 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 8 342 --- --- --- --- BMP2K 55589 broad.mit.edu 37 4 79792161 79792169 + In_Frame_Del DEL CAGCACCAC CAGCACCAC - rs2114202 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:79792161_79792169delCAGCACCAC ENST00000335016.5 + 11 1622_1630 c.1456_1464delCAGCACCAC c.(1456-1464)del p.QHH486del BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 486 Gln/His-rich. Q -> H (in dbSNP:rs2114202). Missing (in Ref. 2; CAB70863). nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 gcagcagcagcagcaccaccaccaccacc 0.488 7 371 --- --- --- --- PKD2 5311 broad.mit.edu 37 4 88986559 88986559 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:88986559delA ENST00000237596.2 + 11 2218 c.2152delA c.(2152-2154)aafs p.K719fs PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 719 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACTAAAACTGAAAAAAAATAC 0.383 12 716 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 739 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 18 467 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90872904 90872905 + Splice_Site INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:90872904_90872905insA ENST00000394980.1 + 8 3584 c.e8+2 MMRN1_ENST00000394981.1_Splice_Site|MMRN1_ENST00000508372.1_Splice_Site|MMRN1_ENST00000264790.2_Splice_Site Q13201 MMRN1_HUMAN multimerin 1 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TAGCTCCAGGTAAAAAAAAAGT 0.347 28 392 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 10 489 --- --- --- --- COL25A1 84570 broad.mit.edu 37 4 109895698 109895698 + Frame_Shift_Del DEL T T - rs142155024 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:109895698delT ENST00000399132.1 - 7 986 c.456delA c.(454-456)aafs p.K152fs COL25A1_ENST00000399127.1_Frame_Shift_Del_p.K152fs|COL25A1_ENST00000399126.1_Frame_Shift_Del_p.K152fs NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 152 Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding p.K152K(2) NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCTTATCGCCTTTTGGACCAG 0.318 7 744 --- --- --- --- CLGN 1047 broad.mit.edu 37 4 141313402 141313402 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:141313402delT ENST00000325617.5 - 13 2062 c.1622delA c.(1621-1623)agfs p.K541fs CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 541 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) ATCATTTTGCTTTTTTTCCTC 0.378 7 1468 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 15 808 --- --- --- --- SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T T - rs72552721 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:131676327delT ENST00000200652.3 + 9 1688 c.1514delT c.(1513-1515)ctfs p.L505fs AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 505 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity p.E509fs*1(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 16 1090 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 11 1538 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 7 387 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327900 16327901 + In_Frame_Ins INS - - TGC rs66949327 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:16327900_16327901insTGC ENST00000244769.4 - 8 1577_1578 c.641_642insGCA c.(640-642)cca>cGCAca p.214_214P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 214 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgctgatg 0.668 7 74 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 12 331 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:42196333delT ENST00000541110.1 - 18 3981 c.3413delA c.(3412-3414)agfs p.K1138fs TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 7 2971 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 17 1940 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 11 427 --- --- --- --- ZBTB24 9841 broad.mit.edu 37 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:109802729delT ENST00000230122.3 - 2 668 c.501delA c.(499-501)aafs p.K167fs NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) ATGTATTGACTTTTTTTGGTC 0.418 8 1615 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 8 540 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 7 1426 --- --- --- --- IFNGR1 3459 broad.mit.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:137519505_137519506delCT ENST00000367739.4 - 7 1253_1254 c.1132_1133delAG c.(1132-1134)tfs p.S380fs IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 380 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) AGGTGAAGAACTCTCTCTCTCT 0.431 7 645 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144086414 144086414 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:144086414delA ENST00000427704.2 + 6 808 c.678delA c.(676-678)tcfs p.S226fs PHACTR2_ENST00000367584.4_Frame_Shift_Del_p.S214fs|PHACTR2_ENST00000305766.6_Frame_Shift_Del_p.S146fs|PHACTR2_ENST00000440869.2_Frame_Shift_Del_p.S237fs|PHACTR2_ENST00000367582.3_Frame_Shift_Del_p.S157fs NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 226 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CCTCTCATTCAAAAAAAACAA 0.398 9 849 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 9 783 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 11 859 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560589 161560589 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr6:161560589delG ENST00000320285.4 - 8 1119 c.907delC c.(907-909)ggfs p.R304fs AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 304 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.R303fs*7(2)|p.R303fs*60(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CAGGGCCGCCGGGGGGGCACC 0.627 8 697 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:2968323delG ENST00000396946.4 - 13 2066 c.1663delC c.(1663-1665)ggfs p.R555fs NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 555 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTGCGGCTCCGGGGGGGCTGC 0.592 Mis DLBCL 7 471 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 292 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:27222462delT ENST00000006015.3 - 2 966 c.895delA c.(895-897)ttfs p.I299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TCTCTGTTAATTTTTTTTTCC 0.448 T NUP98 CML 10 581 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 8 1079 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 17 705 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 8 80 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 8 330 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 13 337 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 13 100 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 9 93 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:24811843delA ENST00000221169.5 - 0 1639 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAATAAAACAAAAAAAAAAT 0.328 19 264 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 7 300 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 12 358 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 9 297 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14823287 14823287 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:14823287delG ENST00000380881.4 - 14 3026 c.2211delC c.(2209-2211)ccfs p.P737fs FREM1_ENST00000380880.3_Frame_Shift_Del_p.P736fs|FREM1_ENST00000422223.2_Frame_Shift_Del_p.P736fs Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 736 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGTCTTGCATGGGGGGCATGT 0.443 7 1129 --- --- --- --- KIF24 347240 broad.mit.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:34257623delT ENST00000379166.2 - 11 2101 c.1982delA c.(1981-1983)agfs p.K661fs KIF24_ENST00000402558.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 661 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.K143fs*34(1)|p.K661fs*34(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CTCTTCTGGCTTTTTTTTGGC 0.527 9 469 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 11 144 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 10 52 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 7 253 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 7 47 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000432842.2_3'UTR RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 11 315 --- --- --- --- TUBBP5 0 broad.mit.edu 37 9 141070013 141070014 + RNA INS - - GCG rs76591329 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr9:141070013_141070014insGCG ENST00000503395.1 + 0 1132 CTCCTGGGAACGCGGCCCTCCC 0.728 8 134 --- --- --- --- DNAJC1 64215 broad.mit.edu 37 10 22208817 22208818 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:22208817_22208818insT ENST00000376980.3 - 5 868_869 c.578_579insA c.(577-579)aacfs p.N193fs NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 193 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TGCTGCCAGTCTTTTTTTTCTT 0.302 7 960 --- --- --- --- AGAP6 414189 broad.mit.edu 37 10 51769519 51769519 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:51769519delA ENST00000374056.4 + 7 1963 c.1565delA c.(1564-1566)gafs p.E522fs AGAP6_ENST00000412531.3_Frame_Shift_Del_p.E545fs C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 545 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 AGCATCTGGGAAGGGAGCAGC 0.527 110 689 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 748 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 14 853 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 16 778 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4409705 4409705 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:4409705delT ENST00000254436.7 - 4 672 c.560delA c.(559-561)acfs p.N187fs TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 187 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACCAGGAAGTTTTTTTGCTG 0.483 11 1805 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 17 648 --- --- --- --- ARL14EP 120534 broad.mit.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:30352754delA ENST00000282032.3 + 2 474 c.259delA c.(259-261)aafs p.K88fs NM_152316.1 NP_689529.1 ADP-ribosylation factor-like 14 effector protein GAAATTAGCCAAAAAAAATTT 0.338 8 742 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 10 34 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 7 1442 --- --- --- --- MTL5 9633 broad.mit.edu 37 11 68480836 68480836 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:68480836delT ENST00000255087.5 - 8 1243 c.1060delA c.(1060-1062)ttfs p.I354fs NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 354 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) CCCTTCCCAATTTTTGGCTGG 0.473 7 1460 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 7 204 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:104879687delT ENST00000393141.2 - 2 98 c.67delA c.(67-69)ggfs p.R24fs CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 11 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 35 325 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - rs35482889 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:118969143delA ENST00000409993.2 - 7 2249 c.698delT c.(697-699)tcfs p.F233fs DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.F126fs|DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.F233fs Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 233 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity p.?(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CAAAGTGGTGAAAAAAAAGGG 0.438 7 642 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 10 341 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124745490 124745491 + Frame_Shift_Ins INS - - G rs140619532 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr11:124745490_124745491insG ENST00000397801.1 + 15 2522_2523 c.2330_2331insG c.(2329-2331)ggcfs p.G777fs ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 777 Fibronectin type-III 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GGAGTGGCGGTGGCCTTGGGGG 0.604 9 138 --- --- --- --- GPR19 2842 broad.mit.edu 37 12 12814274 12814274 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:12814274delT ENST00000540510.1 - 2 1301 c.1109delA c.(1108-1110)acfs p.N370fs GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs Q15760 GPR19_HUMAN G protein-coupled receptor 19 370 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GCCAACGTAGTTTTTTTTGGC 0.398 12 847 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 11 773 --- --- --- --- KRT73 319101 broad.mit.edu 37 12 53001991 53001991 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:53001991delT ENST00000305748.3 - 9 1646 c.1612delA c.(1612-1614)ccfs p.T538fs RP11-641A6.2_ENST00000551089.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 538 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) TATCTCATGGTTTTTTTGGTG 0.532 7 1385 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 21 1507 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 15 963 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 8 772 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 596 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 8 701 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 14 1159 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 16 1218 --- --- --- --- CDK8 1024 broad.mit.edu 37 13 26975609 26975611 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr13:26975609_26975611delCAG ENST00000381527.3 + 12 1620_1622 c.1117_1119delCAG c.(1117-1119)del p.Q377del CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 377 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TGAGAAGAACCAGCAGCAGCAGC 0.463 7 241 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 27 587 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 10 244 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 10 513 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 10 1503 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs TTGCTGTTCTCTTTTTTTTGTG 0.371 9 547 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014174 56014174 + RNA DEL G G - rs72015246 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:56014174delG ENST00000554558.1 - 0 364 aaaaaaaaaagaaTTGGCACA 0.443 19 44 --- --- --- --- ADAM20 8748 broad.mit.edu 37 14 70989525 70989528 + Frame_Shift_Del DEL TTGT TTGT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:70989525_70989528delTTGT ENST00000256389.3 - 2 2341_2344 c.2097_2100delACAA c.(2095-2100)aafs p.KQ699fs RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 649 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) AGTGACAGTGTTGTTTGTTGTTGC 0.490 8 1747 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 11 844 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94517596 94517598 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:94517596_94517598delTCT ENST00000330836.5 - 9 2650_2652 c.2519_2521delAGA c.(2518-2523)aca>a p.KT840del DDX24_ENST00000544005.1_In_Frame_Del_p.KT590del|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000555054.1_In_Frame_Del_p.KT797del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 840 Poly-Lys. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) GGCTTCTTTGTCTTCTTCTTCTT 0.512 OREG0022891 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 553 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 953 --- --- --- --- IGHV3-43 0 broad.mit.edu 37 14 106926502 106926503 + RNA DEL AC AC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr14:106926502_106926503delAC ENST00000434710.1 - 0 126 ACACCTGCAAACACAGAGACAC 0.520 17 709 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:28518115delC ENST00000261609.7 - 8 944 c.836delG c.(835-837)gafs p.G279fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G279V(1)|p.G279fs*25(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 7 303 --- --- --- --- FAN1 22909 broad.mit.edu 37 15 31196894 31196894 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:31196894delA ENST00000362065.4 + 2 319 c.28delA c.(28-30)aafs p.K11fs FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 11 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCTCCTGACAAAAAAAGGCC 0.353 Direct reversal of damage 7 799 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 16 256 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 15 142 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 9 87 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102312241 102312241 + RNA DEL A A - rs59860046 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr15:102312241delA ENST00000561463.1 + 0 13609 AGTGGCCGGGAAATTTGCTGT 0.592 21 132 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 9 558 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457598 15457609 + In_Frame_Del DEL GCTGAGGGTGGA GCTGAGGGTGGA - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:15457598_15457609delGCTGAGGGTGGA ENST00000360151.4 - 8 959_970 c.960_971delTCCACCCTCAGC c.(958-972)gcg>gc p.APPSA320del NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 ATTATCATCCGCTGAGGGTGGAGCTGAGGGTG 0.509 7 383 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000561803.1_5'UTR NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 8 393 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 8 247 --- --- --- --- CNGB1 1258 broad.mit.edu 37 16 57983275 57983277 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:57983275_57983277delTCC ENST00000564448.1 - 14 1143_1145 c.1083_1085delGGA c.(1081-1086)gaa>ga p.EE363del CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 369 Poly-Glu. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 ctcctcctcttcctcctcctcct 0.586 7 447 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 9 517 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 8 242 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 9 357 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 8 258 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959375 27959375 + Frame_Shift_Del DEL G G - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:27959375delG ENST00000269033.3 - 15 2907 c.2756delC c.(2755-2757)cafs p.P919fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGAATGTTCTGGGGGGGCTTC 0.483 7 1688 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 8 313 --- --- --- --- GGNBP2 79893 broad.mit.edu 37 17 34943645 34943645 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:34943645delA ENST00000304718.4 + 13 2176 c.1860delA c.(1858-1860)ggfs p.G620fs NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 620 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) CCGATTCCGGAAAAGGTGCCA 0.468 7 1157 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45127300 45127300 + RNA DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:45127300delA ENST00000575173.1 - 0 418 CACATTCCAGAAAAAAATACC 0.393 8 1978 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 24 184 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs|BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 182 894 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 11 116 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:58740624delA ENST00000305921.3 + 6 1761 c.1529delA c.(1528-1530)cafs p.Q510fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 510 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity p.N512fs*2(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GTCATGGACCAAAAAAATTTG 0.378 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 9 638 --- --- --- --- C17orf82 388407 broad.mit.edu 37 17 59489871 59489877 + Frame_Shift_Del DEL GGCCTCG GGCCTCG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:59489871_59489877delGGCCTCG ENST00000335108.2 + 1 760_766 c.535_541delGGCCTCG c.(535-543)ggfs p.GLG179fs NM_203425.1 NP_982249.1 Q86X59 CQ082_HUMAN chromosome 17 open reading frame 82 179 cervix(1)|lung(1) 2 AGCCCGCCCAGGCCTCGGGCCTCGGCA 0.734 15 22 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60366593 60366594 + RNA INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:60366593_60366594insA ENST00000602493.1 - 0 430 GTTGAGAGAAGAAAAAAAAAAG 0.272 8 101 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61560495 61560495 + Frame_Shift_Del DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:61560495delC ENST00000290866.4 + 9 1472 c.1448delC c.(1447-1449)acfs p.T483fs ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000538928.1_Intron NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 483 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGTGGGCGTACCCCCCCTTCC 0.562 7 1628 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 12 1149 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 8 598 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 21 291 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 8 323 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 7 306 --- --- --- --- ZNF44 51710 broad.mit.edu 37 19 12384448 12384448 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:12384448delA ENST00000356109.5 - 5 884 c.766delT c.(766-768)ggfs p.W256fs ZNF44_ENST00000355684.5_Frame_Shift_Del_p.W208fs NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) AAACTGGGCCAAAAAAAGGCT 0.398 9 828 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15726721 15726722 + RNA INS - - ACTCACTCATTCCTCTGATC rs148338083 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:15726721_15726722insACTCACTCATTCCTCTGATC ENST00000441682.2 + 0 262 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ACGGCAGAGAAactcactcatt 0.559 8 74 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29851033 29851033 + RNA DEL A A - rs71171729 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:29851033delA ENST00000582581.1 - 0 2030 NR_040029.1 caaatattttaaaaaaaagag 0.343 7 833 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 272 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 13 1152 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 11 908 --- --- --- --- PNMAL1 55228 broad.mit.edu 37 19 46973195 46973197 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:46973195_46973197delCTT ENST00000313683.10 - 2 1401_1403 c.1096_1098delAAG c.(1096-1098)del p.K366del PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 366 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCAAGCTCACCTTCTTCTTCTTC 0.562 10 1437 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 7 700 --- --- --- --- FPR3 2359 broad.mit.edu 37 19 52327875 52327875 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:52327875delT ENST00000339223.4 + 2 1053 c.874delT c.(874-876)ttfs p.F293fs FPR3_ENST00000595991.1_Frame_Shift_Del_p.F293fs NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 293 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTCCTTGGCCTTTTTTAACAG 0.428 10 1125 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 10 514 --- --- --- --- PPP1R12C 54776 broad.mit.edu 37 19 55607462 55607462 + Frame_Shift_Del DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr19:55607462delC ENST00000263433.3 - 8 1125 c.1110delG c.(1108-1110)ggfs p.G370fs PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.G296fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.G370fs NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 370 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGATGGGGGGCCCCCCAGCCC 0.647 7 798 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16360401 16360401 + Frame_Shift_Del DEL T T - rs35229389 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:16360401delT ENST00000354981.2 - 19 2403 c.2246delA c.(2245-2247)agfs p.K749fs KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Frame_Shift_Del_p.K749fs|KIF16B_ENST00000408042.1_Frame_Shift_Del_p.K749fs NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 749 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.K749fs*3(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CTCTAGTCTCTTTTTTTCCAG 0.498 7 810 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21143813 21143814 + RNA INS - - T TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:21143813_21143814insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA AAGCCATTCAATTTTTTTTTTC 0.371 11 405 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 9 208 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832962 39832962 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:39832962delT ENST00000309060.3 - 4 1010 c.595delA c.(595-597)ttfs p.I199fs ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 199 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGTGTATGAATTTTTTTGGCT 0.488 7 634 --- --- --- --- EPPIN 57119 broad.mit.edu 37 20 44174297 44174297 + Frame_Shift_Del DEL T T - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:44174297delT ENST00000354280.4 - 2 270 c.204delA c.(202-204)aafs p.K68fs EPPIN_ENST00000336443.3_Frame_Shift_Del_p.K52fs|EPPIN-WFDC6_ENST00000504988.1_Frame_Shift_Del_p.K68fs|EPPIN_ENST00000409554.1_Frame_Shift_Del_p.K68fs|EPPIN_ENST00000555685.1_Frame_Shift_Del_p.K68fs NM_020398.3 NP_065131.1 epididymal peptidase inhibitor p.C53fs*28(2) GATCTAAACATTTTTTTCCGC 0.453 8 1577 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49508203 49508204 + Frame_Shift_Ins INS - - T rs6096163 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:49508203_49508204insT ENST00000396029.3 - 5 3614_3615 c.3047_3048insA c.(3046-3048)agcfs p.S1016fs ADNP_ENST00000371602.4_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000396032.3_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000349014.3_Frame_Shift_Ins_p.S1016fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 GCATGGTAGCCTTTTTTTTGGC 0.460 11 847 --- --- --- --- ZNF831 128611 broad.mit.edu 37 20 57766219 57766220 + Frame_Shift_Ins INS - - C TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr20:57766219_57766220insC ENST00000371030.2 + 1 145_146 c.145_146insC c.(145-147)cccfs p.P49fs NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 49 Pro-rich. intracellular nucleic acid binding|zinc ion binding p.T52fs*47(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GCAGGGCCTGGCCCCCCCCACT 0.728 7 259 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058447 11058450 + RNA DEL AAAC AAAC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:11058447_11058450delAAAC 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) GCAAAATATTAAACAAAGGATTCG 0.294 8 101 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 14 481 --- --- --- --- U2AF1 7307 broad.mit.edu 37 21 44513281 44513282 + In_Frame_Ins INS - - CCG rs144595259 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:44513281_44513282insCCG ENST00000459639.1 - 7 1458_1459 c.434_435insCGG c.(433-435)ggg>gCGGgg p.144_145insA U2AF1_ENST00000291552.4_In_Frame_Ins_p.217_218insA|U2AF1_ENST00000398137.1_In_Frame_Ins_p.144_145insA|U2AF1_ENST00000380276.2_In_Frame_Ins_p.217_218insA Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 217 RRM. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 cgccacctccaccaccgccacc 0.574 Mis """CLL, MDS""" 7 358 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45535692 45535694 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:45535692_45535694delGAG ENST00000291576.7 + 7 854_856 c.727_729delGAG c.(727-729)del p.E247del NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 247 Poly-Glu. cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ggaggaggaagaggaggaggagg 0.640 7 267 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr21:46951916_46951918delCAG ENST00000311124.4 - 3 486_488 c.334_336delCTG c.(334-336)del p.L112del SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 112 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGAGTGGCCCAGCAGCAGCAGC 0.645 10 152 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 12 442 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661170 22661170 + RNA DEL T T - rs58170086 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:22661170delT ENST00000426066.1 + 0 262 NR_027293.1 AGCATACAGGTTTTCCCCCCC 0.403 12 227 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 8 403 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 9 351 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23964283 23964285 + In_Frame_Del DEL CAT CAT - rs10564183 TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chr22:23964283_23964285delCAT ENST00000317749.5 - 4 674_676 c.377_379delATG c.(376-381)gcc>g p.DA126del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 126 Asp-rich. p.D126delD(1) endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.429 7 310 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:76907782_76907784delTCC ENST00000373344.5 - 15 4591_4593 c.4377_4379delGGA c.(4375-4380)gaa>ga p.EE1463del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1463 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ctcctcctcttcctcctcctcct 0.389 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 11 485 --- --- --- --- USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:132160788delA ENST00000511190.1 - 6 1930 c.1461delT c.(1459-1461)ttfs p.F487fs USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G488fs*6(2)|p.F487fs*7(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTTCTGCTCCAAAAAAAAGAT 0.383 8 686 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 8 451 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-HZ-A4BK-01A-11D-A26I-08 TCGA-HZ-A4BK-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx 805a330c-6335-4dd8-ad62-faa95c624aa9 1d425431-396e-4129-97c6-b5e29cb9daae g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 9 79 --- --- --- ---