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 AJ271736.10 0 broad.mit.edu 37 X 155254905 155254905 + RNA SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:155254905G>C ENST00000285718.7 + 0 1210 WASH6P_ENST00000461007.1_RNA TTTCCCTCCAGGCATCTCTGG 0.597000 23 47 0 0 0.681144 0 0 GPR135 64582 broad.mit.edu 37 14 59930560 59930560 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:59930560C>T ENST00000395116.1 - 1 1500 c.1385G>A c.(1384-1386)cGc>cAc p.R462H NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 462 integral to membrane|plasma membrane G-protein coupled receptor activity p.R462H(2) breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) TGGATTTTTGCGGGCCCACAT 0.607000 4 153 0 0 0.150653 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 12 747 0 0 0.500413 0 0 CGB7 94027 broad.mit.edu 37 19 49558229 49558229 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:49558229T>C ENST00000356213.4 - 4 2923 c.46A>G c.(46-48)Aca>Gca p.T16A CGB7_ENST00000597853.1_Missense_Mutation_p.T18A|CGB7_ENST00000377280.3_Missense_Mutation_p.T18A|CGB7_ENST00000596965.1_Missense_Mutation_p.T18A chorionic gonadotropin, beta polypeptide 7 p.T18A(1) lung(3)|urinary_tract(2) 5 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GATGCCCATGTCCCGCCCATG 0.657000 5 493 0 0 0.335167 0 0 PLS3 5358 broad.mit.edu 37 X 114871228 114871228 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:114871228G>A ENST00000420625.2 + 8 963 c.829G>A c.(829-831)Gca>Aca p.A277T PLS3_ENST00000289290.3_Missense_Mutation_p.A232T|PLS3_ENST00000539310.1_Missense_Mutation_p.A232T|PLS3_ENST00000537301.1_Missense_Mutation_p.A255T|PLS3_ENST00000355899.3_Missense_Mutation_p.A277T NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 277 Actin-binding 1.|CH 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 GCTTAGATGGGCAAACTTTCA 0.388000 7 1180 0 0 0.248553 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769603 162769603 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:162769603G>A ENST00000367917.3 + 5 586 c.518G>A c.(517-519)aGt>aAt p.S173N HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 173 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity p.S173N(4) endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) TCATCTCGCAGTGCAAGGAAA 0.458000 7 320 0 0 0.248553 0 0 LILRB2 0 broad.mit.edu 37 19 54782828 54782828 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:54782828C>T ENST00000391748.1 - 6 921 c.794G>A c.(793-795)cGc>cAc p.R265H LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H|LILRB2_ENST00000391749.4_Missense_Mutation_p.R265H NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 265 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGGGAGCTGGCGAAGGTCACG 0.637000 17 501 0 0 0.520397 0 0 SMAD4 4089 broad.mit.edu 37 18 48593394 48593394 + Missense_Mutation SNP A A T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr18:48593394A>T ENST00000342988.3 + 10 1683 c.1145A>T c.(1144-1146)cAc>cTc p.H382L SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L|SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 382 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CTAAGGTTGCACATAGGCAAA 0.338000 17 462 0 0 0.539581 0 0 NBEA 26960 broad.mit.edu 37 13 35630161 35630161 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:35630161C>T ENST00000540320.1 + 7 1521 c.987C>T c.(985-987)agC>agT p.S329S NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S Q8NFP9 NBEA_HUMAN neurobeachin 329 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACATGATCAGCATTGTCCACA 0.318000 6 318 0 0 0.335167 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 5 338 0 0 0.217242 0 0 MYH4 4622 broad.mit.edu 37 17 10348217 10348217 + Splice_Site SNP C C A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:10348217C>A ENST00000255381.2 - 38 5577 c.e38-1 CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTCTCTCACCTGGAAGGGAA 0.483000 6 721 0.000157383 0.000162132 0.278610 1 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 6 277 0 0 0.248553 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 8 305 0 0 0.335167 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 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 CTACCCCTAAAGGGACTGCTC 0.582000 15 1118 0 0 0.457914 0 0 PASK 23178 broad.mit.edu 37 2 242046038 242046038 + Missense_Mutation SNP C C A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:242046038C>A ENST00000405260.1 - 18 4613 c.3915G>T c.(3913-3915)gaG>gaT p.E1305D PASK_ENST00000544142.1_Missense_Mutation_p.E1119D|PASK_ENST00000539818.1_Missense_Mutation_p.E1089D|PASK_ENST00000234040.4_Missense_Mutation_p.E1305D|PASK_ENST00000358649.4_Missense_Mutation_p.E1312D NM_001252120.1 NP_001239049.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1305 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) CATTAGGAGCCTCGCCTGGAA 0.572000 6 948 0.0293803 0.0297538 0.248553 1 0 CRYBB3 1417 broad.mit.edu 37 22 25597368 25597368 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:25597368C>T ENST00000215855.2 + 2 85 c.5C>T c.(4-6)gCg>gTg p.A2V CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 2 N-terminal arm. visual perception protein binding|structural constituent of eye lens p.A2V(1) large_intestine(2)|lung(2)|prostate(1) 5 GGGGAGATGGCGGAACAGCAC 0.597000 6 736 0 0 0.248553 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 6 874 0 0 0.217242 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 8 454 1.08611e-07 1.14858e-07 0.387290 1 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 4 103 0 0 0.150653 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 8 599 0 0 0.335167 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 294 0 0 0.248553 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 7 465 0 0 0.335167 0 0 IGHG1 0 broad.mit.edu 37 14 106207924 106207924 + RNA SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:106207924G>T ENST00000390548.2 - 0 878 TGTCCACGGTGAGCTTGCTGT 0.592000 8 881 3.59834e-05 3.73914e-05 0.217242 1 0 ZNF335 63925 broad.mit.edu 37 20 44578999 44578999 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:44578999C>T ENST00000322927.2 - 22 3446 c.3346G>A c.(3346-3348)Ggg>Agg p.G1116R ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G1116W(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TTGAGGTGCCCGTTACGGTTG 0.612000 53 644 0 0 0.870114 0 0 LRP1 4035 broad.mit.edu 37 12 57606324 57606324 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:57606324G>A ENST00000243077.3 + 89 14087 c.13621G>A c.(13621-13623)Gac>Aac p.D4541N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4541 Interaction with MAFB (By similarity). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGAGATAGGGGACCCCTTGGC 0.677000 9 323 0 0 0.307466 0 0 SLFN5 162394 broad.mit.edu 37 17 33591445 33591445 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:33591445C>T ENST00000299977.4 + 4 1530 c.1382C>T c.(1381-1383)gCg>gTg p.A461V SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 461 cell differentiation ATP binding p.A461V(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) AAGTGGGATGCGGGGTGCAAG 0.488000 5 493 0 0 0.184627 0 0 TULP4 56995 broad.mit.edu 37 6 158923248 158923248 + Silent SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 63 0 0 0.500413 0 0 LYPD3 27076 broad.mit.edu 37 19 43965886 43965886 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:43965886G>A ENST00000244333.3 - 5 746 c.658C>T c.(658-660)Cgc>Tgc p.R220C NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 220 UPAR/Ly6 2. 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) GAGTTACAGCGGGACCCCTGG 0.622000 28 736 0 0 0.706142 0 0 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:57484421G>A ENST00000371100.4 + 8 3083 c.2531G>A c.(2530-2532)cGt>cAt p.R844H GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 37 400 0 0 0.779181 0 0 CHD8 57680 broad.mit.edu 37 14 21868724 21868724 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:21868724C>T ENST00000399982.2 - 22 4482 c.4418G>A c.(4417-4419)cGt>cAt p.R1473H CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H|CHD8_ENST00000557364.1_Missense_Mutation_p.R1473H NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1473 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTCAGTCATACGTCGCTTGAA 0.428000 8 188 0 0 0.278610 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661756 22661756 + RNA SNP T T G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:22661756T>G ENST00000426066.1 + 0 500 NR_027293.1 CTCCTAAGATTTTTCTCTTTT 0.333000 6 90 0 0 0.217242 0 0 OR1L4 254973 broad.mit.edu 37 9 125486583 125486583 + Silent SNP C C T rs139043736 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:125486583C>T ENST00000259466.1 + 1 315 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F105F(1) breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 TGTACTTCTTCATGGCATTTG 0.473000 6 727 0 0 0.361761 0 0 OBP2B 29989 broad.mit.edu 37 9 136081795 136081795 + Missense_Mutation SNP A A G rs1132279 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:136081795A>G ENST00000372034.3 - 5 438 c.397T>C c.(397-399)Tct>Cct p.S133P OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity p.S133P(2) central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) TTGGTATCAGAATTCCTACCT 0.612000 5 305 0 0 0.248553 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149092 52149092 + Missense_Mutation SNP C C T rs111981406 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:52149092C>T ENST00000360844.6 - 3 684 c.643G>A c.(643-645)Gtg>Atg p.V215M SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 215 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding p.V215M(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGGCGTTTCACCTGACAGGTG 0.647000 7 384 0 0 0.335167 0 0 PSG7 5676 broad.mit.edu 37 19 43439887 43439887 + RNA SNP T T A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:43439887T>A ENST00000446844.3 - 0 188 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TGACTTGGGCTGTGGTGGGCG 0.493000 8 1262 0 0 0.361761 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331454 140331454 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:140331454T>C ENST00000371506.2 - 5 605 c.422A>G c.(421-423)gAc>gGc p.D141G ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G|ENTPD8_ENST00000472938.1_Missense_Mutation_p.D141G NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 141 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) TGCAAAGATGTCCCTGGCCTG 0.682000 12 333 0 0 0.411799 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316759 39316759 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:39316759T>C ENST00000390661.3 - 1 224 c.185A>G c.(184-186)cAc>cGc p.H62R NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 62 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1). keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGTGGCAGCAGGT 0.662000 9 641 0 0 0.435327 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605916 1605916 + Silent SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:1605916A>G ENST00000382171.2 - 1 597 c.564T>C c.(562-564)ggT>ggC p.G188G KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 188 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCACAAGAACCGCAGCCCC 0.677000 7 439 0 0 0.457914 0 0 POU4F2 5458 broad.mit.edu 37 4 147561030 147561030 + Missense_Mutation SNP C C A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:147561030C>A ENST00000281321.3 + 2 548 c.300C>A c.(298-300)ttC>ttA p.F100L NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 100 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GCAATATATTCGGCGGGCTGG 0.612000 5 346 0.0215528 0.0219196 0.217242 1 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 185 0 0 0.248553 0 0 GRM5 2915 broad.mit.edu 37 11 88780631 88780631 + Missense_Mutation SNP A A G rs72954992 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:88780631A>G ENST00000418177.2 - 2 777 c.410T>C c.(409-411)tTc>tCc p.F137S GRM5_ENST00000305432.5_Missense_Mutation_p.F137S|GRM5_ENST00000305447.4_Missense_Mutation_p.F137S|GRM5_ENST00000393294.3_Missense_Mutation_p.F137S|GRM5_ENST00000393297.1_Missense_Mutation_p.F137S|GRM5_ENST00000455756.2_Missense_Mutation_p.F137S P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 137 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTTGGAGCGGAAGGAAGAGGA 0.502000 5 367 0 0 0.278610 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514963 95514963 + RNA SNP G G A rs114749649 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:95514963G>A ENST00000432432.2 - 0 694 NR_040113.1 GCCTATCAACGGCATGTGTAC 0.328000 8 1030 0 0 0.654019 0 0 NSDHL 50814 broad.mit.edu 37 X 152031181 152031181 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:152031181C>T ENST00000370274.3 + 5 650 c.456C>T c.(454-456)ggC>ggT p.G152G NSDHL_ENST00000440023.1_Silent_p.G152G NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 152 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity p.G152G(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) TCTTTGAGGGCGTCGATATCA 0.413000 24 635 0 0 0.654019 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:23205193A>G ENST00000400153.2 - 0 661 NR_003521.1 GGTGTCCTTGAATAACCTAGA 0.398000 4 91 0 0 0.150653 0 0 RFPL3 10738 broad.mit.edu 37 22 32754256 32754256 + Silent SNP G G A rs61729170 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:32754256G>A ENST00000249007.4 + 1 403 c.198G>A c.(196-198)tcG>tcA p.S66S RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 66 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GCATCAATTCGCTGCAGAAGG 0.537000 6 562 0 0 0.435327 0 0 KAT6A 7994 broad.mit.edu 37 8 41800505 41800505 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:41800505G>A ENST00000396930.3 - 15 2785 c.2242C>T c.(2242-2244)Cgc>Tgc p.R748C KAT6A_ENST00000406337.1_Missense_Mutation_p.R748C|KAT6A_ENST00000265713.2_Missense_Mutation_p.R748C|KAT6A_ENST00000485568.1_Missense_Mutation_p.R748C NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 748 Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TTTTCCCGGCGGATAATCACA 0.423000 19 376 0 0 0.592651 0 0 UBN1 29855 broad.mit.edu 37 16 4924840 4924840 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:4924840G>A ENST00000396658.4 + 14 3132 c.2429G>A c.(2428-2430)gGc>gAc p.G810D UBN1_ENST00000590769.1_Missense_Mutation_p.G810D|UBN1_ENST00000262376.6_Missense_Mutation_p.G810D|UBN1_ENST00000545171.1_Missense_Mutation_p.G810D NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 810 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TTTCATGCCGGCACTCAGCAG 0.572000 7 836 0 0 0.278610 0 0 NR3C2 0 broad.mit.edu 37 4 149075982 149075982 + Silent SNP T T G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:149075982T>G ENST00000355292.3 - 5 2459 c.2097A>C c.(2095-2097)ccA>ccC p.P699P NR3C2_ENST00000344721.4_Silent_p.P695P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P695P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P699P|NR3C2_ENST00000503313.1_5'UTR P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 695 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggCTGCT 0.532000 8 74 0 0 0.520397 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 8 125 3.99206e-14 4.37661e-14 0.557998 1 0 GRM5 2915 broad.mit.edu 37 11 88780514 88780514 + Missense_Mutation SNP C C A rs151175803 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:88780514C>A ENST00000418177.2 - 2 894 c.527G>T c.(526-528)aGc>aTc p.S176I GRM5_ENST00000305432.5_Missense_Mutation_p.S176I|GRM5_ENST00000305447.4_Missense_Mutation_p.S176I|GRM5_ENST00000393294.3_Missense_Mutation_p.S176I|GRM5_ENST00000393297.1_Missense_Mutation_p.S176I|GRM5_ENST00000455756.2_Missense_Mutation_p.S176I P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 176 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CAGATCCATGCTGGTTGCTGA 0.483000 6 398 0.0215528 0.0219196 0.217242 1 0 TNRC6C 57690 broad.mit.edu 37 17 76046827 76046827 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:76046827G>A ENST00000335749.4 + 3 2253 c.1684G>A c.(1684-1686)Gca>Aca p.A562T TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A562T NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 562 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GAGTGGGGCCGCAAATCAGGA 0.582000 5 542 0 0 0.184627 0 0 CTSG 1511 broad.mit.edu 37 14 25043976 25043976 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:25043976G>A ENST00000216336.2 - 3 280 c.244C>T c.(244-246)Cgg>Tgg p.R82W NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 82 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GTGTTTTCCCGTCTCTGGATA 0.532000 16 491 0 0 0.539581 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 10 74 0 0 0.387290 0 0 HERC2 8924 broad.mit.edu 37 15 28370291 28370291 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:28370291C>T ENST00000261609.7 - 84 12959 c.12851G>A c.(12850-12852)gGa>gAa p.G4284E NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4284 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) ATTGGTGGTTCCGTCTCCCAG 0.532000 32 1054 0 0 0.693898 0 0 LDHC 3948 broad.mit.edu 37 11 18467784 18467784 + Silent SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:18467784G>T ENST00000541669.1 + 7 849 c.738G>T c.(736-738)ggG>ggT p.G246G LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000536880.1_Silent_p.G232G|LDHC_ENST00000546146.1_Intron P07864 LDHC_HUMAN lactate dehydrogenase C 246 glycolysis cytoplasm binding|L-lactate dehydrogenase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AGCTGAAGGGGTATACCTCTT 0.378000 25 678 2.41591e-17 2.67316e-17 0.681144 1 0 STAT3 6774 broad.mit.edu 37 17 40498723 40498723 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:40498723G>A ENST00000264657.5 - 3 449 c.137C>T c.(136-138)gCg>gTg p.A46V STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 46 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding p.A46V(2) breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TTTGCTGGCCGCATATGCCCT 0.433000 Hyperimmunoglobulin E Recurrent Infection Syndrome 7 1127 0 0 0.217242 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 6 167 0 0 0.520397 0 0 LPHN3 23284 broad.mit.edu 37 4 62812695 62812695 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:62812695C>T ENST00000512091.1 + 15 3026 c.2279C>T c.(2278-2280)gCc>gTc p.A760V LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514591.1_Missense_Mutation_p.A760V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V Q9HAR2 LPHN3_HUMAN latrophilin 3 747 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.A760V(3)|p.A760G(1) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ACGGAGAATGCCAGTATGAAG 0.403000 7 1257 0 0 0.248553 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 8 965 0 0 0.307466 0 0 TGM5 9333 broad.mit.edu 37 15 43527883 43527883 + Nonsense_Mutation SNP G G A rs144532387 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:43527883G>A ENST00000220420.5 - 10 1505 c.1498C>T c.(1498-1500)Cga>Tga p.R500* TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418* NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 500 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TCACTGGGTCGAAGGGAAGGT 0.562000 12 278 0 0 0.387290 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864204 102864204 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:102864204G>A ENST00000372628.1 + 3 570 c.212G>A c.(211-213)aGg>aAg p.R71K TCEAL3_ENST00000243286.3_Missense_Mutation_p.R71K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R71K Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 71 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.R71K(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 AAGCAGGGCAGGTCCGAAGGT 0.622000 7 1037 0 0 0.278610 0 0 MST1 4485 broad.mit.edu 37 3 49724639 49724639 + Missense_Mutation SNP A A G rs41291704 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:49724639A>G ENST00000449682.2 - 5 911 c.550T>C c.(550-552)Tac>Cac p.Y184H MST1_ENST00000545762.1_Silent_p.A131A|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Y109H NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 170 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTGTTGTGTAGCACCAAGGA 0.627000 5 283 0 0 0.184627 0 0 COPS4 51138 broad.mit.edu 37 4 83978424 83978424 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:83978424G>A ENST00000509093.1 + 6 1356 c.578G>A c.(577-579)cGt>cAt p.R193H COPS4_ENST00000503682.1_Missense_Mutation_p.R193H|COPS4_ENST00000264389.2_Missense_Mutation_p.R193H|COPS4_ENST00000511653.1_Missense_Mutation_p.R193H NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 193 cullin deneddylation cytoplasm|signalosome protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) TGCTATGCACGTGTTCTTGAT 0.338000 9 346 0 0 0.335167 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 8 720 0 0 0.335167 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605919 1605919 + Silent SNP G G A rs148721177 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:1605919G>A ENST00000382171.2 - 1 594 c.561C>T c.(559-561)tgC>tgT p.C187C KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 187 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACAAGAACCGCAGCCCCCCT 0.672000 9 451 0 0 0.717897 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161609 90161609 + RNA SNP A A G rs139928438 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:90161609A>G ENST00000564451.1 + 0 962 TUBB8P7_ENST00000567960.1_RNA TGATGGAGTCAGTGATGGACG 0.617000 5 146 0 0 0.479597 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642985 1642985 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:1642985G>A ENST00000399682.1 - 1 383 c.339C>T c.(337-339)tcC>tcT p.S113S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 113 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACCCCCACAGGAGCCACAGC 0.667000 17 732 0 0 0.717897 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100369 27100369 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:27100369C>T ENST00000607124.1 - 1 160 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D P06899 H2B1J_HUMAN histone cluster 1, H2bj 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 GGACGAAATGCCGGTGTCAGG 0.547000 10 1460 0 0 0.217242 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q O15409 FOXP2_HUMAN forkhead box P2 185 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.Q210Q(2) 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 agcagcaacagcagcagcagc 0.502000 7 360 0 0 0.278610 0 0 CCR3 1232 broad.mit.edu 37 3 46307531 46307531 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:46307531C>T ENST00000357422.2 + 4 1425 c.882C>T c.(880-882)tgC>tgT p.C294C CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 294 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) ACTCCCACTGCTGCATGAACC 0.527000 5 365 0 0 0.184627 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 8 576 0 0 0.557998 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 10 294 0 0 0.387290 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 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 p.T579T(1) 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 CTGCCCCAACTACCCCCAAGG 0.647000 39 756 0 0 0.870114 0 0 STXBP5 0 broad.mit.edu 37 6 147703993 147703993 + Silent SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:147703993A>G ENST00000367481.3 + 25 3273 c.3165A>G c.(3163-3165)aaA>aaG p.K1055K STXBP5_ENST00000367480.3_Silent_p.K1038K|STXBP5_ENST00000179882.6_Silent_p.K746K|STXBP5_ENST00000321680.6_Silent_p.K1091K NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 1091 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) AAGGCGTAAAAGGGGCAGCAT 0.502000 6 910 0 0 0.217242 0 0 DNAH5 1767 broad.mit.edu 37 5 13793653 13793653 + Missense_Mutation SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:13793653G>T ENST00000265104.4 - 49 8299 c.8195C>A c.(8194-8196)cCc>cAc p.P2732H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2732 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGCTTCAGAGGGCAACGTGCA 0.468000 Kartagener syndrome 15 548 4.7546e-09 5.09574e-09 0.500413 1 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 7 473 0 0 0.248553 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 16 164 0 0 0.500413 0 0 RHOA 387 broad.mit.edu 37 3 49405942 49405942 + Missense_Mutation SNP A A T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:49405942A>T ENST00000418115.1 - 3 580 c.196T>A c.(196-198)Tat>Aat p.Y66N RHOA_ENST00000454011.2_Intron|RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 66 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) AGGCGATCATAATCTTCCTGC 0.493000 33 607 0 0 0.750413 0 0 OR52A1 23538 broad.mit.edu 37 11 5173196 5173196 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:5173196G>A ENST00000380367.1 - 2 821 c.404C>T c.(403-405)gCc>gTc p.A135V OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 135 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGATGTTGGCATGTCTTAG 0.498000 11 259 0 0 0.387290 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036952 153036952 + Missense_Mutation SNP G G A rs141109198 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:153036952G>A ENST00000538966.1 + 15 2699 c.2428G>A c.(2428-2430)Gac>Aac p.D810N PLXNB3_ENST00000361971.5_Missense_Mutation_p.D787N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 787 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 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) GATCCTGTACGACTGCGCCAT 0.672000 12 252 0 0 0.411799 0 0 AHNAK 79026 broad.mit.edu 37 11 62296070 62296070 + Missense_Mutation SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:62296070A>G ENST00000378024.4 - 5 6093 c.5819T>C c.(5818-5820)gTg>gCg p.V1940A AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1940 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CGACACATCCACATCCCCTTT 0.502000 12 1977 0 0 0.248553 0 0 AC226119.5 0 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 6 354 5.68852e-11 6.20802e-11 0.307466 1 0 BOD1L1 259282 broad.mit.edu 37 4 13604934 13604934 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:13604934G>A ENST00000040738.5 - 10 3725 c.3590C>T c.(3589-3591)gCc>gTc p.A1197V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1197 DNA binding TCTATGATCGGCATGCTTTTC 0.423000 7 1107 0 0 0.307466 0 0 DNMT3B 1789 broad.mit.edu 37 20 31385055 31385055 + Silent SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:31385055G>C ENST00000328111.2 + 14 1761 c.1440G>C c.(1438-1440)gtG>gtC p.V480V DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000201963.3_Silent_p.V472V|DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Silent_p.V384V|DNMT3B_ENST00000443239.3_Silent_p.V418V NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 480 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACTGCACTGTGTGCTGCGAGG 0.582000 62 728 0 0 0.870114 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554675 85554675 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:85554675C>T ENST00000377386.3 - 2 642 c.180G>A c.(178-180)ccG>ccA p.P60P TGOLN2_ENST00000409232.3_Silent_p.P60P|TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P O43493 TGON2_HUMAN trans-golgi network protein 2 60 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding TTGGAGTCTGCGGCTCCGGAT 0.597000 7 1127 0 0 0.217242 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 7 372 0 0 0.248553 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 5 610 0 0 0.278610 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 7 382 0 0 0.278610 0 0 HEATR1 55127 broad.mit.edu 37 1 236739626 236739626 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:236739626G>A ENST00000366582.3 - 22 3091 c.2977C>T c.(2977-2979)Cat>Tat p.H993Y HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 993 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACTTCTGATGAGATTTCAGT 0.318000 24 700 0 0 0.654019 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 11 353 0 0 0.361761 0 0 NCOA6 23054 broad.mit.edu 37 20 33345723 33345723 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:33345723C>T ENST00000374796.2 - 8 3398 c.828G>A c.(826-828)caG>caA p.Q276Q NCOA6_ENST00000359003.2_Silent_p.Q276Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 276 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgttgttgctgctgctgct 0.537000 5 324 0 0 0.217242 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 7 848 9.70103e-10 1.05388e-09 0.361761 1 0 DRD5 0 broad.mit.edu 37 4 9784853 9784853 + Missense_Mutation SNP C C G rs114936842 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:9784853C>G ENST00000304374.2 + 1 1596 c.1200C>G c.(1198-1200)atC>atG p.I400M NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 400 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.I400M(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ACCAAGACATCGTCTTCCACA 0.592000 5 374 0 0 0.575678 0 0 DNM1P47 0 broad.mit.edu 37 15 102292797 102292797 + RNA SNP C C G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:102292797C>G ENST00000561463.1 + 0 843 p.P129A(2) GAGCTGCTGTCCAACCTGCAC 0.597000 7 246 0 0 0.335167 0 0 IFI44 10561 broad.mit.edu 37 1 79128422 79128422 + Missense_Mutation SNP C C G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:79128422C>G ENST00000370747.4 + 8 1232 c.1147C>G c.(1147-1149)Ctt>Gtt p.L383V IFI44_ENST00000495254.1_3'UTR NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 383 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 TGGATTTGCTCTTTCTGACAT 0.368000 13 350 0 0 0.479597 0 0 FOXP2 93986 broad.mit.edu 37 7 114270015 114270015 + Silent SNP A A G rs146945410 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:114270015A>G ENST00000393500.3 + 11 1147 c.327A>G c.(325-327)caA>caG p.Q109Q FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q O15409 FOXP2_HUMAN forkhead box P2 184 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 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 agcagcagcaacagcagcagc 0.502000 5 358 0 0 0.217242 0 0 KCNA1 3736 broad.mit.edu 37 12 5021286 5021286 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:5021286G>A ENST00000382545.3 + 2 1849 c.742G>A c.(742-744)Gac>Aac p.D248N KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 248 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGCAAGACGGACTTCTTCAA 0.493000 17 512 0 0 0.520397 0 0 TLE3 7090 broad.mit.edu 37 15 70346894 70346894 + Missense_Mutation SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:70346894G>T ENST00000558939.1 - 16 3095 c.1718C>A c.(1717-1719)aCg>aAg p.T573K TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000317509.8_Missense_Mutation_p.T561K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 573 organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AGCCGAGGACGTCAGCTCGGC 0.662000 13 228 2.27111e-07 2.39117e-07 0.411799 1 0 DDX11 1663 broad.mit.edu 37 12 31256819 31256819 + Missense_Mutation SNP C C G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:31256819C>G ENST00000407793.2 + 27 3016 c.2765C>G c.(2764-2766)cCg>cGg p.P922R DDX11_ENST00000545668.1_Missense_Mutation_p.P922R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 922 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTGTCCTGCCCGCTGGAGACA 0.607000 Multiple Myeloma(12;0.14) 13 354 0 0 0.435327 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 4 124 0 0 0.307466 0 0 SYT9 143425 broad.mit.edu 37 11 7334873 7334873 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:7334873G>A ENST00000318881.6 + 3 982 c.745G>A c.(745-747)Gcc>Acc p.A249T SYT9_ENST00000396716.2_Missense_Mutation_p.A217T NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 249 C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.A249T(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) CAATTTGCCCGCCAAGGACTT 0.408000 5 759 0 0 0.184627 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 17 120 0 0 0.654019 0 0 SDHAP1 0 broad.mit.edu 37 3 195711466 195711466 + RNA SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:195711466G>T ENST00000427841.1 - 0 481 NR_003264.2 GCCCATCACCGCGACCATGGC 0.582000 8 304 3.27435e-08 3.49362e-08 0.457914 1 0 UBB 7314 broad.mit.edu 37 17 16285497 16285497 + Silent SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:16285497A>G ENST00000302182.3 + 2 668 c.276A>G c.(274-276)gaA>gaG p.E92E UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 92 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.E92E(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCACCCTGGAAGTGGAGCCCA 0.557000 6 646 0 0 0.248553 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 8 81 0 0 0.361761 0 0 ABCA3 21 broad.mit.edu 37 16 2347809 2347809 + Missense_Mutation SNP C C G rs149496917 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:2347809C>G ENST00000301732.5 - 16 2710 c.2010G>C c.(2008-2010)agG>agC p.R670S ABCA3_ENST00000382381.3_Missense_Mutation_p.R612S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 670 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AGAGCTTGCGCCTCATGCCCC 0.632000 7 598 0 0 0.335167 0 0 DNM1P47 0 broad.mit.edu 37 15 102292832 102292832 + RNA SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:102292832G>C ENST00000561463.1 + 0 878 GAAGACACTCGTGGAGGCGTC 0.597000 7 164 0 0 0.457914 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332442 22332442 + RNA SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:22332442C>T ENST00000558896.1 + 0 249 CGTGACAGAACTTGTTCTTCT 0.353000 13 607 0 0 0.435327 0 0 FTHL17 53940 broad.mit.edu 37 X 31089614 31089614 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:31089614C>T ENST00000359202.3 - 1 556 c.457G>A c.(457-459)Gtg>Atg p.V153M NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 153 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 AGGTTGCTCACGTAGCCACCC 0.617000 19 450 0 0 0.592651 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959752 45959752 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr21:45959752G>A ENST00000400375.1 - 1 326 c.282C>T c.(280-282)ccC>ccT p.P94P TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 94 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 cctgctggcagggggaggagg 0.662000 10 877 0 0 0.184627 0 0 FREM1 158326 broad.mit.edu 37 9 14842569 14842569 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:14842569C>T ENST00000380881.4 - 10 2301 c.1486G>A c.(1486-1488)Gtg>Atg p.V496M FREM1_ENST00000380880.3_Missense_Mutation_p.V495M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 495 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.V496L(1) 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) CGGAAGACCACGAAGTCTTTG 0.517000 20 578 0 0 0.575678 0 0 MUC1 4582 broad.mit.edu 37 1 155161799 155161799 + Missense_Mutation SNP T T G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:155161799T>G ENST00000368395.1 - 2 405 c.334A>C c.(334-336)Acc>Ccc p.T112P MUC1_ENST00000338684.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368390.3_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 892 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCGGGGTGGTGGAGCCC 0.711000 T IGH@ B-NHL 21 90 0 0 0.819951 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 90 0 0 0.184627 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32709266 32709266 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:32709266G>A ENST00000374940.3 + 1 148 c.46G>A c.(46-48)Gcc>Acc p.A16T NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 16 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGCCCTGACTGCCGTGATGAG 0.502000 7 174 0 0 0.411799 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 15 2471 0 0 0.278610 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 10 73 2.80697e-09 3.02192e-09 0.387290 1 0 KIAA0100 9703 broad.mit.edu 37 17 26961608 26961608 + Silent SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:26961608A>G ENST00000528896.2 - 16 3071 c.2997T>C c.(2995-2997)ccT>ccC p.P999P KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 999 extracellular region p.P999P(1) breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGGGGGAAAAGGGCTGCCTG 0.493000 6 759 0 0 0.248553 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 13 1748 0 0 0.184627 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 4 258 0 0 0.387290 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274424 39274424 + Missense_Mutation SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:39274424G>C ENST00000391413.2 - 1 182 c.144C>G c.(142-144)agC>agG p.S48R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 48 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.S48R(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCCTGCAGCAGCTGGACACAC 0.672000 15 464 0 0 0.539581 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 5 163 0 0 0.335167 0 0 DNM1P47 0 broad.mit.edu 37 15 102292820 102292820 + RNA SNP G G C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:102292820G>C ENST00000561463.1 + 0 866 p.T136T(2) GCGTGGGAACGAGAAGACACT 0.592000 7 190 0 0 0.539581 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 10 891 0 0 0.387290 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 9 817 0 0 0.361761 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 12 397 0 0 0.479597 0 0 PCDHB13 0 broad.mit.edu 37 5 140594939 140594939 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:140594939C>T ENST00000341948.4 + 1 1431 c.1244C>T c.(1243-1245)gCg>gTg p.A415V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 415 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAAGCAGAGCGGAATACAAC 0.478000 19 614 0 0 0.539581 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278842 36278842 + Silent SNP A A C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:36278842A>C ENST00000007510.4 + 21 3519 c.3375A>C c.(3373-3375)tcA>tcC p.S1125S ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S O14559 RHG33_HUMAN Rho GTPase activating protein 33 1125 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TTGGCCAATCACCCCCACTCC 0.667000 15 122 0 0 0.575678 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 12 733 0 0 0.592651 0 0 ZNF473 25888 broad.mit.edu 37 19 50548290 50548290 + Missense_Mutation SNP G G T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:50548290G>T ENST00000595661.1 + 6 1085 c.590G>T c.(589-591)aGc>aTc p.S197I CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I Q8WTR7 ZN473_HUMAN zinc finger protein 473 197 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TCCGACCACAGCCAGCAGGAT 0.468000 14 429 1.05317e-09 1.13895e-09 0.457914 1 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 5 254 0 0 0.184627 0 0 SPTB 6710 broad.mit.edu 37 14 65260215 65260215 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:65260215C>T ENST00000389722.3 - 13 2219 c.2166G>A c.(2164-2166)tcG>tcA p.S722S SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000389721.5_Silent_p.S722S|SPTB_ENST00000542895.1_Silent_p.S722S|SPTB_ENST00000556626.1_Silent_p.S722S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 722 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCACTGTGCCGACACCTCCT 0.582000 11 356 0 0 0.361761 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656239 40656239 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:40656239G>A ENST00000406785.1 - 2 1371 c.1182C>T c.(1180-1182)caC>caT p.H394H SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H|SLC8A1_ENST00000403092.1_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 394 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGTTGACCTCGTGCATGCTGA 0.468000 16 456 0 0 0.479597 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 8 560 0 0 0.307466 0 0 LILRB5 0 broad.mit.edu 37 19 54754843 54754843 + Missense_Mutation SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:54754843A>G ENST00000450632.1 - 13 1869 c.1792T>C c.(1792-1794)Tcc>Ccc p.S598P LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 423 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTGGGGAGGCCTGGGGG 0.607000 15 282 0 0 0.575678 0 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 7 784 0 0 0.248553 0 0 PCDHGA1 0 broad.mit.edu 37 5 140712120 140712120 + Silent SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:140712120G>A ENST00000517417.1 + 1 1869 c.1869G>A c.(1867-1869)acG>acA p.T623T PCDHGA1_ENST00000378105.3_Silent_p.T623T NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTGCACACGGGCGAGGTGC 0.701000 18 386 0 0 0.667858 0 0 GHDC 84514 broad.mit.edu 37 17 40344270 40344270 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:40344270G>A ENST00000301671.8 - 4 1319 c.878C>T c.(877-879)gCt>gTt p.A293V GHDC_ENST00000593209.1_Missense_Mutation_p.A293V|GHDC_ENST00000587427.1_Missense_Mutation_p.A293V|GHDC_ENST00000436923.2_Missense_Mutation_p.A293V|GHDC_ENST00000428494.2_Missense_Mutation_p.A254V|GHDC_ENST00000414034.3_Missense_Mutation_p.A293V Q8N2G8 GHDC_HUMAN GH3 domain containing 293 endoplasmic reticulum|nuclear envelope central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) TCCCGAGGCAGCATAAGCAGG 0.607000 7 1187 0 0 0.217242 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274161 39274161 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:39274161T>C ENST00000391413.2 - 1 445 c.407A>G c.(406-408)cAc>cGc p.H136R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 136 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcagctggggtggcagcaggt 0.662000 6 266 0 0 0.608945 0 0 GRIK4 2900 broad.mit.edu 37 11 120838027 120838027 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:120838027C>T ENST00000527524.2 + 19 2677 c.2390C>T c.(2389-2391)gCt>gTt p.A797V GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 797 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GATCACAGAGCTAAAGGTAAG 0.522000 6 245 0 0 0.278610 0 0 TPRG1 285386 broad.mit.edu 37 3 189028237 189028237 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:189028237G>A ENST00000345063.3 + 5 709 c.542G>A c.(541-543)cGc>cAc p.R181H TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 181 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CTTCTGTCCCGCTGGAACCCA 0.473000 5 375 0 0 0.184627 0 0 AC226119.5 0 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 6 357 0.307466 0.308758 0.307466 1 0 KLB 152831 broad.mit.edu 37 4 39448687 39448687 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:39448687G>A ENST00000257408.4 + 4 2438 c.2341G>A c.(2341-2343)Gac>Aac p.D781N NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 781 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 CAAGACCGGGGACTACCCCGC 0.672000 16 417 0 0 0.557998 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 10 1379 0 0 0.500413 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 6 490 0 0 0.278610 0 0 MYH9 4627 broad.mit.edu 37 22 36702080 36702080 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:36702080C>T ENST00000216181.5 - 17 2285 c.2055G>A c.(2053-2055)ccG>ccA p.P685P NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 685 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCACGAGATGCGGGTCCAGCT 0.592000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 6 531 0 0 0.248553 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 10 458 0 0 0.361761 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412376 105412376 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:105412376C>T ENST00000333244.5 - 7 9531 c.9412G>A c.(9412-9414)Gcc>Acc p.A3138T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3138 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGTCTTTGGCAGTCACATCC 0.602000 11 2571 0 0 0.361761 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000344721.4_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 14 90 0 0 0.847076 0 0 CD163L1 283316 broad.mit.edu 37 12 7559406 7559406 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:7559406C>T ENST00000313599.3 - 5 866 c.809G>A c.(808-810)cGc>cAc p.R270H CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H Q9NR16 C163B_HUMAN CD163 molecule-like 1 270 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCCATACAGCGGTTAGTTCC 0.448000 27 544 0 0 0.706142 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36064899 36064899 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:36064899C>T ENST00000258840.6 - 37 6163 c.5773G>A c.(5773-5775)Gta>Ata p.V1925I RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.V1878I|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1878 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGAAATATTACCTCTACTGTA 0.353000 12 515 0 0 0.411799 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 12 344 0 0 0.411799 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643036 1643036 + Silent SNP A A G rs58877168 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:1643036A>G ENST00000399682.1 - 1 332 c.288T>C c.(286-288)ggT>ggC p.G96G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 96 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCCTTGGAACCCCCACAGG 0.682000 23 529 0 0 0.750413 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579468 11579468 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:11579468C>T ENST00000294484.6 + 8 2084 c.1946C>T c.(1945-1947)gCc>gTc p.A649V PTCHD2_ENST00000389575.3_Missense_Mutation_p.A649V NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 649 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) GACGTGTTTGCCGCTCCCGAG 0.637000 7 1246 0 0 0.278610 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 13 2281 0 0 0.184627 0 0 MOV10L1 54456 broad.mit.edu 37 22 50591565 50591565 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:50591565C>T ENST00000262794.5 + 22 3067 c.2984C>T c.(2983-2985)gCg>gTg p.A995V MOV10L1_ENST00000395858.3_Missense_Mutation_p.A995V|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A995V|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A975V|MOV10L1_ENST00000354853.2_Missense_Mutation_p.A38V|MOV10L1_ENST00000395843.1_Missense_Mutation_p.A38V|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A122V NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 995 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GAGGTCTGTGCGGACCCCACA 0.577000 6 708 0 0 0.248553 0 0 TATDN2 9797 broad.mit.edu 37 3 10312110 10312110 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:10312110G>A ENST00000287652.4 + 4 2295 c.1244G>A c.(1243-1245)cGc>cAc p.R415H RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 415 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding p.R415H(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 AGCCGGAGCCGCATGAGTGAT 0.567000 6 823 0 0 0.217242 0 0 AKR7A2 8574 broad.mit.edu 37 1 19632583 19632583 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:19632583C>T ENST00000235835.3 - 6 868 c.847G>A c.(847-849)Gca>Aca p.A283T NM_003689.3 NP_003680.2 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) 283 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCGCCATATGCGGCCTGCAGG 0.632000 6 558 0 0 0.217242 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 9 1719 0 0 0.248553 0 0 UBC 7316 broad.mit.edu 37 12 125398267 125398267 + Silent SNP A A C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:125398267A>C ENST00000536769.1 - 1 1627 c.51T>G c.(49-51)gtT>gtG p.V17V UBC_ENST00000536661.1_5'UTR|UBC_ENST00000538617.1_Silent_p.V17V|UBC_ENST00000546120.1_Silent_p.V17V|UBC_ENST00000339647.5_Silent_p.V17V P0CG48 UBC_HUMAN ubiquitin C 17 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CACTGGGCTCAACCTCGAGGG 0.473000 9 1099 0 0 0.387290 0 0 TTC40 54777 broad.mit.edu 37 10 134660745 134660745 + Silent SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:134660745C>T ENST00000368586.5 - 42 6133 c.6033G>A c.(6031-6033)ccG>ccA p.P2011P TTC40_ENST00000263170.5_Silent_p.P172P NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 172 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGGAGGCCGGCGGGTCCCTGC 0.677000 7 539 0 0 0.248553 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33405686 33405686 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:33405686G>A ENST00000418600.2 + 8 1105 c.1004G>A c.(1003-1005)cGc>cAc p.R335H SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 335 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GACAAAAAGCGCAAGAAGGAC 0.607000 7 526 0 0 0.248553 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 7 805 0 0 0.479597 0 0 ZNF285 26974 broad.mit.edu 37 19 44892085 44892085 + Missense_Mutation SNP T T A rs79240579 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:44892085T>A ENST00000330997.4 - 4 386 c.322A>T c.(322-324)Agt>Tgt p.S108C ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CACTCTTCACTGAGGGAAACA 0.393000 6 774 0 0 0.479597 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940142 68940142 + Missense_Mutation SNP C C T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:68940142C>T ENST00000433211.1 - 7 1154 c.980G>A c.(979-981)cGg>cAg p.R327Q CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 327 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R327Q(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGCGATAATCCGCTCTCGGTG 0.517000 17 450 0 0 0.520397 0 0 USP29 0 broad.mit.edu 37 19 57642253 57642253 + Missense_Mutation SNP G G A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:57642253G>A ENST00000254181.4 + 4 2664 c.2210G>A c.(2209-2211)tGt>tAt p.C737Y USP29_ENST00000598197.1_Missense_Mutation_p.C737Y NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 737 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCCAGCAGTGTATTGAGGAG 0.458000 23 398 0 0 0.654019 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803746 142803746 + RNA SNP A A G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:142803746A>G ENST00000423385.1 - 0 1219 actatggattagagctgatta 0.393000 8 61 0 0 0.307466 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 10 1066 0 0 0.335167 0 0 GABRD 2563 broad.mit.edu 37 1 1956774 1956774 + Splice_Site DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:1956774delC ENST00000378585.4 + 3 266 c.181_splice c.e3-1 p.G61_splice NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 61 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.V64fs*365(1) central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCCTTGCAGGCCCCCCCGTGA 0.647 7 813 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 13 266 --- --- --- --- CAMTA1 23261 broad.mit.edu 37 1 7811329 7811329 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:7811329delA ENST00000303635.7 + 20 4967 c.4760delA c.(4759-4761)cafs p.Q1587fs CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K1589fs*33(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTATGAACAAAAAAAATTC 0.473 T WWTR1 epitheliod hemangioendothelioma 11 1652 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 10 750 --- --- --- --- CROCCP2 0 broad.mit.edu 37 1 16953827 16953828 + RNA INS - - C rs57007114 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:16953827_16953828insC ENST00000412962.1 - 0 477 TCACTTTCCTGCCCGAACCTCC 0.609 11 408 --- --- --- --- ARHGEF10L 55160 broad.mit.edu 37 1 17914103 17914103 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:17914103delC ENST00000361221.3 + 3 345 c.186delC c.(184-186)gafs p.D62fs ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.D62fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.D62fs NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 62 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) GGGACACAGACCCCCCACTGA 0.587 7 1452 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 10 496 --- --- --- --- TCEB3 6924 broad.mit.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:24078404delA ENST00000418390.2 + 4 1658 c.1387delA c.(1387-1389)aafs p.K464fs NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 464 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding p.N439fs*19(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TAAAGGACTTAAAAAAAATGA 0.413 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 1181 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 8 915 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 16 1307 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40756542 40756543 + Frame_Shift_Ins INS - - T rs137854889 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:40756542_40756543insT ENST00000372759.3 + 9 1241_1242 c.1076_1077insT c.(1075-1077)tttfs p.F359fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 359 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTTCCTGTGTTTTTTTTTAT 0.332 8 440 --- --- --- --- MUTYH 4595 broad.mit.edu 37 1 45795066 45795066 + Frame_Shift_Del DEL T T - rs34961970 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:45795066delT ENST00000450313.1 - 16 1777 c.1562delA c.(1561-1563)agfs p.K521fs MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.K518fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 518 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CATGCGGGGCTTTTTCCGACT 0.547 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 7 1551 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 12 602 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 7 574 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 12 86 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 14 104 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 12 436 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 13 976 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 11 829 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842200 154842202 + In_Frame_Del DEL GCT GCT - rs58327065 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:154842200_154842202delGCT ENST00000271915.3 - 1 554_556 c.239_241delAGC c.(238-243)cca>c p.QP80del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGATGCGGTGgctgctgctgctg 0.700 21 63 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156626160 156626160 + Frame_Shift_Del DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:156626160delG ENST00000329117.4 + 9 2365 c.2029delG c.(2029-2031)ggfs p.G678fs RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 678 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGGCTATGGGGGGGACCT 0.622 9 824 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 13 712 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762724 176762724 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:176762724delC ENST00000367662.3 + 20 6213 c.5049delC c.(5047-5049)atfs p.I1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGTGTAATCCCCCCCAGTG 0.468 9 505 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276524 186276526 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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_ENST00000367485.4_In_Frame_Del_p.KE465del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.KE515del 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 1159 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) 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) GATTCTGGAGCCTCCTCCTCCTC 0.626 20 398 --- --- --- --- WNT9A 7483 broad.mit.edu 37 1 228111953 228111954 + Frame_Shift_Ins INS - - C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:228111953_228111954insC ENST00000272164.5 - 3 510_511 c.500_501insG c.(499-501)gtgfs p.V167fs WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 167 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity p.G167fs*38(1)|p.C168fs*6(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TGTCTCCGCAGCCCCCCCACTG 0.629 7 976 --- --- --- --- AGT 183 broad.mit.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr1:230839055delA ENST00000366667.4 - 5 1504 c.1290delT c.(1288-1290)ttfs p.F430fs NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 430 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CTTCAAGCTCAAAAAAAATGC 0.562 7 569 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 11 279 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 10 580 --- --- --- --- PSME4 23198 broad.mit.edu 37 2 54093344 54093345 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:54093344_54093345insT ENST00000404125.1 - 46 5468_5469 c.5413_5414insA c.(5413-5415)cttfs p.L1805fs PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1805 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.T1691fs*>39(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ATTGGATAAGGTTTTTTTTACA 0.401 10 635 --- --- --- --- HTRA2 27429 broad.mit.edu 37 2 74757185 74757186 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:74757185_74757186insG ENST00000258080.3 + 1 682_683 c.52_53insG c.(52-54)ggcfs p.G18fs HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs NM_013247.4 NP_037379.1 O43464 HTRA2_HUMAN HtrA serine peptidase 2 18 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 TCGGGCATGGCGGGCTTTGGGG 0.718 39 369 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 9 339 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 12 696 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 7 263 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158178062 158178064 + In_Frame_Del DEL ATC ATC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:158178062_158178064delATC ENST00000410096.1 - 3 865_867 c.574_576delGAT c.(574-576)del p.D192del ERMN_ENST00000535935.1_In_Frame_Del_p.D86del|ERMN_ENST00000397283.2_In_Frame_Del_p.D205del|ERMN_ENST00000420719.2_In_Frame_Del_p.D172del NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 192 Poly-Asp. cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 tattgcaattatcatcatcatca 0.365 9 709 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 8 398 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 30 --- --- --- --- HIBCH 26275 broad.mit.edu 37 2 191161629 191161629 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:191161629delT ENST00000392332.3 - 3 268 c.129delA c.(127-129)aafs p.K43fs HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase 43 branched chain family amino acid catabolic process mitochondrial matrix 3-hydroxyisobutyryl-CoA hydrolase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814) CCGTGCAACCTTTTTTTTCCA 0.353 7 330 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:197649613_197649614insT ENST00000263956.3 - 8 1170_1171 c.1081_1082insA c.(1081-1083)ttcfs p.F361fs GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding 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 TTCTTCTGAAGTTTTTTTTTCC 0.337 10 268 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 11 570 --- --- --- --- CRYGA 1418 broad.mit.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:209025577delC ENST00000304502.4 - 3 495 c.476delG c.(475-477)gtfs p.G159fs NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GGCATCTGCACCCCCCCAGTC 0.532 11 895 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 8 2616 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 12 550 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10291121 10291123 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:10291121_10291123delCTC ENST00000287652.4 + 2 1288_1290 c.237_239delCTC c.(235-240)aac>aa p.NS79del TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del|RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 79 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCAGAAATAACTCCTCCTCCTCC 0.635 8 1634 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 8 1280 --- --- --- --- SATB1 6304 broad.mit.edu 37 3 18391133 18391135 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:18391133_18391135delCTG ENST00000338745.6 - 11 3553_3555 c.1819_1821delCAG c.(1819-1821)del p.Q607del SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 607 Poly-Gln. cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GCGGCGGTGCctgctgctgctgc 0.606 12 158 --- --- --- --- TRAK1 22906 broad.mit.edu 37 3 42242450 42242450 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:42242450delC ENST00000327628.5 + 12 1731 c.1331delC c.(1330-1332)acfs p.T444fs TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 444 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 TGCGTCAGCACCCCCCGGTCC 0.592 9 951 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 9 318 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 9 517 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 12 393 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|PARP3_ENST00000431474.1_In_Frame_Del_p.N80del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 8 1592 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 8 2276 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71247357 71247359 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:71247357_71247359delTGC ENST00000318789.4 - 6 699_701 c.174_176delGCA c.(172-177)caa>ca p.QQ58del FOXP1_ENST00000498215.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000475937.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000468577.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000493089.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000484350.1_In_Frame_Del_p.QQ58del|FOXP1_ENST00000318779.3_In_Frame_Del_p.QQ58del NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 58 Gln-rich. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development 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 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CAGTACCTGTTGCTGCTGCTGCT 0.586 T PAX5 ALL 11 608 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(640-645)gcggaafs p.E215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 8 106 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 9 302 --- --- --- --- NEK11 79858 broad.mit.edu 37 3 130881254 130881254 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:130881254delA ENST00000383366.4 + 11 1258 c.965delA c.(964-966)cafs p.Q322fs NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 322 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 ATTTATAGGCAAAAAAGGATC 0.423 8 1826 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159820697 159820698 + RNA INS - - A rs145340132 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:159820697_159820698insA ENST00000497452.1 - 0 517 TTGGAacagtgaaaaaaaaaag 0.277 13 41 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 8 1709 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 247254 247255 + RNA DEL TA TA - rs34738994 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:247254_247255delTA ENST00000356347.3 + 0 172 NR_027481.1 TTTGTATAAGTATATATATATT 0.287 24 22 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:661763_661765delAGG ENST00000255622.6 + 21 2514_2516 c.2471_2473delAGG c.(2470-2475)aag>a p.KE824del PDE6B_ENST00000496514.1_In_Frame_Del_p.KE824del|PDE6B_ENST00000429163.2_In_Frame_Del_p.KE545del NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 824 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGAGGAGAAGGAGGAGGAGGA 0.562 12 957 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389083 1389084 + Frame_Shift_Ins INS - - CA rs71299249 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:1389083_1389084insCA ENST00000324803.4 + 1 3744_3745 c.784_785insCA c.(784-786)acafs p.T262fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 262 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCCGCCTGCTCACACGTGCCC 0.693 10 1044 --- --- --- --- TLR10 81793 broad.mit.edu 37 4 38774955 38774956 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:38774955_38774956insT ENST00000308973.4 - 4 2861_2862 c.2256_2257insA c.(2254-2259)aacatafs p.NI752fs TLR10_ENST00000506111.1_Frame_Shift_Ins_p.NI752fs|TLR10_ENST00000361424.2_Frame_Shift_Ins_p.NI752fs|TLR10_ENST00000508334.1_Frame_Shift_Ins_p.NI752fs NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 752 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TCCAAGTATGCTTTTTTTTCCA 0.386 7 580 --- --- --- --- AASDH 132949 broad.mit.edu 37 4 57220269 57220269 + Frame_Shift_Del DEL A A - rs148777026 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:57220269delA ENST00000205214.6 - 8 1499 c.1319delT c.(1318-1320)tgfs p.L440fs AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 440 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding p.?(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TTTTCGTCCCAAAAAAAAAAT 0.363 19 393 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83745800 83745800 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:83745800delT ENST00000432794.1 - 26 3521 c.3358delA c.(3358-3360)ttfs p.I1120fs SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1107 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TTCTTGGTAATTTTTTTTGTT 0.388 8 378 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556474 85556475 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:85556474_85556475insT ENST00000295887.5 + 8 1203_1204 c.780_781insT c.(778-783)ggttttfs p.GF260fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 260 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.G260G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ACCTTTTTGGATTTTTTTTTGG 0.307 19 606 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)gfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 8 490 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85741302 85741302 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:85741302delT ENST00000322366.6 - 12 2036 c.1629delA c.(1627-1629)aafs p.K543fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.K543fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 543 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AAGCCAGGTGTTTTTGGTCTT 0.353 7 1526 --- --- --- --- MMRN1 22915 broad.mit.edu 37 4 90844391 90844393 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:90844391_90844393delAGC ENST00000394980.1 + 5 1242_1244 c.923_925delAGC c.(922-927)gag>g p.EQ308del MMRN1_ENST00000508372.1_In_Frame_Del_p.EQ50del|MMRN1_ENST00000264790.2_In_Frame_Del_p.EQ308del|MMRN1_ENST00000394981.1_In_Frame_Del_p.EQ274del Q13201 MMRN1_HUMAN multimerin 1 308 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) GGAGTAGCTGAGCAGCAGCAGCA 0.448 7 1490 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745872 119745873 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:119745872_119745873insG ENST00000379735.5 - 3 421_422 c.150_151insC c.(148-153)gcccgcfs p.R51fs SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 51 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTAGTGGCGGTGGCCCCCAAAG 0.540 7 953 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 11 473 --- --- --- --- RP11-422J15.1 0 broad.mit.edu 37 4 130824738 130824738 + RNA DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:130824738delC ENST00000513875.1 + 0 1264 TAAGCAGTAGCCCCAGGCTGA 0.532 20 47 --- --- --- --- TENM3 55714 broad.mit.edu 37 4 183609359 183609359 + Frame_Shift_Del DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr4:183609359delG ENST00000511685.1 + 12 2199 c.2076delG c.(2074-2076)atfs p.M692fs TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 GCGTTTGCATGGGGGGGACGT 0.592 7 1055 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 10 1012 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14399056 14399056 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:14399056delA ENST00000344204.4 + 30 4515 c.4491delA c.(4489-4491)ccfs p.P1497fs TRIO_ENST00000537187.1_Frame_Shift_Del_p.P1497fs|TRIO_ENST00000509967.2_Frame_Shift_Del_p.P1448fs NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1497 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TGTGGGACCCAAAAACCTTAA 0.403 7 804 --- --- --- --- IL7R 3575 broad.mit.edu 37 5 35874637 35874637 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:35874637delA ENST00000303115.3 + 6 922 c.793delA c.(793-795)aafs p.K266fs IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 266 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGTGTTATGGAAAAAAAGGTG 0.428 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 7 516 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 9 1790 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98235339 98235340 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:98235339_98235340insT ENST00000284049.3 - 7 1078_1079 c.929_930insA c.(928-930)aaafs p.K310fs NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 310 Chromo 1. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CTGGTTCTTTGTTTTTTTCAAA 0.411 7 1285 --- --- --- --- CDO1 1036 broad.mit.edu 37 5 115148957 115148958 + Splice_Site INS - - A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:115148957_115148958insA ENST00000250535.4 - 2 727 c.e2-2 CDO1_ENST00000502631.1_Splice_Site NM_001801.2 NP_001792.2 Q16878 CDO1_HUMAN cysteine dioxygenase type 1 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CGGGTATACCTAAAAAAAAACA 0.332 10 329 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 9 784 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:122881495delA ENST00000395412.1 + 2 857 c.138delA c.(136-138)ggfs p.G46fs CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 46 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTAGAGTTGGAAAAAAAATTG 0.363 7 776 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 8 692 --- --- --- --- ADAM19 8728 broad.mit.edu 37 5 156964990 156964990 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr5:156964990delA ENST00000257527.4 - 4 339 c.261delT c.(259-261)ttfs p.F87fs ADAM19_ENST00000394020.1_Frame_Shift_Del_p.F89fs|ADAM19_ENST00000517905.1_Frame_Shift_Del_p.F87fs|ADAM19_ENST00000430702.2_5'UTR NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 87 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGAAGGAGCAAAAAGTTGCC 0.418 7 440 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 7 506 --- --- --- --- EDN1 1906 broad.mit.edu 37 6 12292614 12292615 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:12292614_12292615insG ENST00000379375.5 + 2 372_373 c.105_106insG c.(103-108)gggggafs p.GG35fs NM_001168319.1|NM_001955.4 NP_001161791.1|NP_001946.3 P05305 EDN1_HUMAN endothelin 1 35 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) GTGAGAACGGCGGGGAGAAACC 0.619 10 832 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 7 623 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 12 1447 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27834859 27834859 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:27834859delT ENST00000331442.3 - 1 500 c.449delA c.(448-450)agfs p.K150fs NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 150 nucleosome assembly nucleosome|nucleus DNA binding p.K150R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CTTCACTGCCTTTTTCGCCCC 0.622 7 1664 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 22 985 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 8 813 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 1267 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 17 232 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 10 888 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64394097 64394097 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:64394097delA ENST00000262043.3 + 4 814 c.474delA c.(472-474)acfs p.T158fs PHF3_ENST00000509330.1_Frame_Shift_Del_p.T158fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.T158fs Q92576 PHF3_HUMAN PHD finger protein 3 158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAAGTAACACAAAAAAAGCAT 0.383 7 1571 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 10 306 --- --- --- --- GABRR2 2570 broad.mit.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:89975427_89975429delAAG ENST00000402938.3 - 7 925_927 c.792_794delCTT c.(790-795)ttg>tt p.FL264del GABRR2_ENST00000602399.1_In_Frame_Del_p.FL289del P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 289 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) TGTTTGGAGCAAGAAGAAGAAGA 0.517 10 435 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 11 631 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 8 609 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 11 898 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 7 284 --- --- --- --- AEBP1 165 broad.mit.edu 37 7 44153778 44153780 + In_Frame_Del DEL AGA AGA - rs13928 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:44153778_44153780delAGA ENST00000223357.3 + 21 3700_3702 c.3395_3397delAGA c.(3394-3399)gaa>g p.EK1132del AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 1132 Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 gaggaggaggagaaagaggagga 0.552 7 393 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 8 1142 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226819 65226819 + RNA DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:65226819delA ENST00000442266.1 + 0 1167 AATGGGGACCAAAAAAAAAAT 0.353 7 44 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72667747 72667747 + RNA DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:72667747delT ENST00000425256.1 - 0 633 NR_002164.1 tttttttttcttttttttttt 0.388 16 158 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 7 828 --- --- --- --- AZGP1P1 0 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 8 51 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. 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) TTCGGAAGGTTCCTCCTCCTCCT 0.675 7 379 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 7 389 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 12 213 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs|MCPH1_ENST00000344683.5_Intron O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 14 546 --- --- --- --- FAM66B 0 broad.mit.edu 37 8 7191540 7191541 + RNA DEL CA CA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:7191540_7191541delCA ENST00000606573.1 - 0 703 GGGGTGcacgcacacacacaca 0.530 20 214 --- --- --- --- EPHX2 2053 broad.mit.edu 37 8 27364393 27364393 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:27364393delT ENST00000521400.1 + 5 972 c.542delT c.(541-543)gtfs p.V181fs EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Frame_Shift_Del_p.V128fs|EPHX2_ENST00000521780.1_Frame_Shift_Del_p.V115fs|EPHX2_ENST00000518379.1_Frame_Shift_Del_p.V181fs NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 181 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GCTCAGGTCGTTTTTTTGGAT 0.473 7 540 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 9 552 --- --- --- --- CSPP1 79848 broad.mit.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:68076631delA ENST00000262210.5 + 22 2732 c.2701delA c.(2701-2703)aafs p.K902fs CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 937 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TGCAGAGGAGAAAAAAAATGT 0.343 8 452 --- --- --- --- CPNE3 8895 broad.mit.edu 37 8 87558847 87558847 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:87558847delA ENST00000521271.1 + 10 919 c.757delA c.(757-759)aafs p.K254fs CPNE3_ENST00000198765.4_Frame_Shift_Del_p.K254fs NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 254 lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 CATAAATGAGAAAAAAAGGCA 0.308 7 911 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 9 297 --- --- --- --- CYP11B1 0 broad.mit.edu 37 8 143956378 143956380 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:143956378_143956380delGCA ENST00000292427.4 - 8 1423_1425 c.1391_1393delTGC c.(1390-1395)cac>c p.LH464del CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 464 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 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) CTCACATGGTGCAGCAGCAGCAG 0.680 Familial Hyperaldosteronism type I 7 488 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 8 130 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 8 750 --- --- --- --- SMARCA2 6595 broad.mit.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - rs113070757 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:2039777_2039779delCAG ENST00000382203.1 + 4 876_878 c.667_669delCAG c.(667-669)del p.Q238del SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 238 Poly-Gln. Missing (in Ref. 1; CAA51407). chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) gcagcagcaacagcagcagcagc 0.635 8 179 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 9 897 --- --- --- --- HABP4 22927 broad.mit.edu 37 9 99250415 99250416 + Frame_Shift_Ins INS - - C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:99250415_99250416insC ENST00000375249.4 + 7 1119_1120 c.1044_1045insC c.(1042-1047)aaccgcfs p.R349fs HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Frame_Shift_Ins_p.R244fs NM_014282.2 NP_055097.2 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 349 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) TTTTCCGGAAACCCGCCAATGA 0.530 26 771 --- --- --- --- FAM69B 138311 broad.mit.edu 37 9 139617741 139617742 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:139617741_139617742insG ENST00000371691.1 + 3 1649_1650 c.550_551insG c.(550-552)ggcfs p.G184fs FAM69B_ENST00000371692.4_Frame_Shift_Ins_p.G271fs|SNHG7_ENST00000414282.1_RNA Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 271 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) GTGGCCTTGGCGGGCCAAGATC 0.678 7 394 --- --- --- --- TPRN 286262 broad.mit.edu 37 9 140087025 140087027 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr9:140087025_140087027delTCC ENST00000409012.4 - 2 1928_1930 c.1842_1844delGGA c.(1840-1845)gaa>ga p.EE620del TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 620 Glu-rich. sensory perception of sound stereocilium p.E315delE(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctcttcctcttcctcctcctcct 0.596 7 200 --- --- --- --- OLAH 55301 broad.mit.edu 37 10 15103848 15103848 + Frame_Shift_Del DEL T T - rs138615083 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:15103848delT ENST00000378217.3 + 5 635 c.448delT c.(448-450)ttfs p.F151fs OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 98 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 ACCATTTGCATTTTTTGGCCA 0.368 8 1054 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15254987 15254989 + In_Frame_Del DEL TCA TCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:15254987_15254989delTCA ENST00000378116.4 - 8 2604_2606 c.2598_2600delTGA c.(2596-2601)gac>ga p.DD866del NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 866 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTCTCCTTGGTCATCATCATCAT 0.571 7 1231 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:26462760delA ENST00000265944.5 + 30 3733 c.3567delA c.(3565-3567)ccfs p.P1189fs MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1189 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.M1192fs*1(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATCAGACTCCAAAAAAAATGA 0.403 8 448 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 11 800 --- --- --- --- SYNPO2L 79933 broad.mit.edu 37 10 75406948 75406948 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:75406948delA ENST00000394810.2 - 4 2611 c.2462delT c.(2461-2463)tcfs p.F821fs SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.F597fs NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 821 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CGCCTGGGGGAAAAAGGGAGA 0.592 7 897 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.409_splice c.e6-1 p.G137_splice PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 9 2609 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 7 1590 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 8 1112 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 8 746 --- --- --- --- HMX2 3167 broad.mit.edu 37 10 124909413 124909414 + Frame_Shift_Ins INS - - C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr10:124909413_124909414insC ENST00000339992.3 + 2 853_854 c.596_597insC c.(595-597)acgfs p.T199fs NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 199 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) TGGTTCCAGAACCGCCGCAACA 0.649 9 208 --- --- --- --- ATHL1 80162 broad.mit.edu 37 11 293711 293712 + Frame_Shift_Ins INS - - C TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:293711_293712insC ENST00000409548.2 + 10 1713_1714 c.1598_1599insC c.(1597-1599)gccfs p.A533fs ATHL1_ENST00000409655.1_Frame_Shift_Ins_p.A285fs|ATHL1_ENST00000409479.1_Frame_Shift_Ins_p.A560fs NM_025092.4 NP_079368.3 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 (yeast) 533 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3) 17 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) TCCCCCCAGGGCCCCGCCATGA 0.619 11 834 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:32635951delT ENST00000335185.5 - 16 1956 c.1913delA c.(1912-1914)atfs p.N638fs NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 638 p.N638fs*18(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TGGAACAGGATTTTTTTTTAT 0.313 8 208 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 8 1710 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 7 387 --- --- --- --- RPS6KB2 6199 broad.mit.edu 37 11 67201678 67201678 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:67201678delT ENST00000312629.5 + 12 1024 c.979delT c.(979-981)ttfs p.F328fs AP003419.16_ENST00000535922.1_RNA NM_003952.2 NP_003943.2 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 2 328 Protein kinase. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GAGACATCCCTTTTTCCGGCA 0.632 7 3064 --- --- --- --- ALDH3B2 222 broad.mit.edu 37 11 67433067 67433067 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:67433067delC ENST00000349015.3 - 7 833 c.395delG c.(394-396)gcfs p.G132fs ALDH3B2_ENST00000530069.1_Frame_Shift_Del_p.G132fs NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 132 G -> V (in Ref. 4; BAC03897). alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) GGGGTTCTTGCCCCCCAGCTC 0.642 8 1606 --- --- --- --- GDPD4 220032 broad.mit.edu 37 11 76928312 76928315 + Splice_Site DEL ATCT ATCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:76928312_76928315delATCT ENST00000376217.2 - 17 1791_1792 c.1540_splice c.e17-1 p.514_splice GDPD4_ENST00000315938.4_3'UTR Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 514 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CTATGTGCAAatctatctatctat 0.471 8 439 --- --- --- --- C11orf54 28970 broad.mit.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:93486914delA ENST00000528288.1 + 4 456 c.221delA c.(220-222)cafs p.Q74fs C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 74 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTTGTAAACCAAAAAAAAGTA 0.353 8 243 --- --- --- --- MRE11A 4361 broad.mit.edu 37 11 94153333 94153335 + In_Frame_Del DEL ATC ATC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:94153333_94153335delATC ENST00000323929.3 - 20 2305_2307 c.2083_2085delGAT c.(2083-2085)del p.D695del MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 695 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TCATAAAAGGATCATCATCATCA 0.325 Homologous recombination Ataxia-Telangiectasia-Like Disorder 8 290 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108559769 108559769 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:108559769delT ENST00000526794.1 + 7 987 c.955delT c.(955-957)ttfs p.F320fs DDX10_ENST00000322536.3_Frame_Shift_Del_p.F320fs Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 320 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GAGCATTGTATTTTTTTCCAG 0.353 T NUP98 AML* 7 1656 --- --- --- --- C11orf57 55216 broad.mit.edu 37 11 111953288 111953289 + Frame_Shift_Ins INS - - A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:111953288_111953289insA ENST00000532163.1 + 6 1153_1154 c.387_388insA c.(385-390)caaaaafs p.QK129fs C11orf57_ENST00000420986.2_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000280352.9_Frame_Shift_Ins_p.QK157fs|C11orf57_ENST00000393047.3_Frame_Shift_Ins_p.QK158fs Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 157 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) AGAAATCCCACAAAAAAAAGCA 0.396 8 435 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 18 508 --- --- --- --- DPAGT1 1798 broad.mit.edu 37 11 118967854 118967856 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:118967854_118967856delGCA ENST00000409993.2 - 10 2708_2710 c.1157_1159delTGC c.(1156-1161)cag>c p.LQ386del DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 386 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 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) ATCCTCACCTGCAGCAGCAGCAG 0.488 7 890 --- --- --- --- NLRX1 79671 broad.mit.edu 37 11 119050548 119050548 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr11:119050548delC ENST00000409109.1 + 7 2405 c.1818delC c.(1816-1818)ggfs p.G606fs NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs Q86UT6 NLRX1_HUMAN NLR family member X1 606 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCGTGGAGGGCCCCCGGCGCC 0.612 8 1121 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 7 343 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 7 962 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 8 1223 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 17 655 --- --- --- --- TSFM 10102 broad.mit.edu 37 12 58177051 58177052 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:58177051_58177052insG ENST00000454289.3 + 2 429_430 c.216_217insG c.(214-219)gggggafs p.GG72fs RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs NM_005726.5 NP_005717.3 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 72 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity endometrium(1)|kidney(1)|large_intestine(5)|prostate(1) 8 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AGACTTGTGGCGGGGACCTCAA 0.569 9 1210 --- --- --- --- IRAK3 0 broad.mit.edu 37 12 66610954 66610954 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:66610954delA ENST00000261233.4 + 6 1013 c.592delA c.(592-594)aafs p.K199fs IRAK3_ENST00000457197.2_Frame_Shift_Del_p.K138fs NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 199 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TATGTAGGAGAAAAAAATGCA 0.363 7 2389 --- --- --- --- E2F7 144455 broad.mit.edu 37 12 77449827 77449827 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:77449827delT ENST00000322886.7 - 3 412 c.177delA c.(175-177)aafs p.K59fs E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 59 cell cycle transcription factor complex DNA binding|identical protein binding p.K59fs*29(2) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 CTGGAGTAAATTTTTTTTGCT 0.363 8 825 --- --- --- --- GNPTAB 79158 broad.mit.edu 37 12 102158002 102158002 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:102158002delT ENST00000299314.7 - 13 2955 c.2693delA c.(2692-2694)agfs p.K898fs NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 898 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TTGGAAATACTTTTTTTTCTC 0.373 8 1086 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 7 389 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124848228 124848228 + Frame_Shift_Del DEL G G - rs12321697 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:124848228delG ENST00000356219.3 - 22 3080 c.2925delC c.(2923-2925)ccfs p.P975fs NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 975 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CACTCACGATGGGGGGGATGG 0.652 9 1360 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132466646 132466646 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr12:132466646delC ENST00000333577.4 + 6 1769 c.1660delC c.(1660-1662)ccfs p.P555fs EP400_ENST00000330386.6_Frame_Shift_Del_p.P519fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.P482fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.P519fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.P518fs Q96L91 EP400_HUMAN E1A binding protein p400 555 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGGAGGAATGCCCCCCACGCC 0.587 7 1733 --- --- --- --- LATS2 26524 broad.mit.edu 37 13 21619977 21619979 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:21619977_21619979delCTG ENST00000382592.4 - 2 592_594 c.187_189delCAG c.(187-189)del p.Q63del LATS2_ENST00000542899.1_In_Frame_Del_p.Q63del NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 63 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TGGCTCTCATCTGCTGCTGCTGC 0.532 7 550 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 12 1305 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding 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) ACGTCctgcagctgctgctgctg 0.532 17 555 --- --- --- --- PDS5B 23047 broad.mit.edu 37 13 33344489 33344489 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:33344489delA ENST00000315596.10 + 32 4041 c.3855delA c.(3853-3855)ccfs p.P1285fs NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1285 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) ATAGTCCGCCAAAAAAGGGTA 0.408 7 450 --- --- --- --- ELF1 1997 broad.mit.edu 37 13 41523943 41523943 + Splice_Site DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:41523943delT ENST00000239882.3 - 5 842 c.529_splice c.e5+1 p.K176_splice ELF1_ENST00000442101.1_Splice_Site_p.K152_splice|ELF1_ENST00000498824.1_5'UTR NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 176 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CCCACCTACCTTTTTTCCTCT 0.423 7 1252 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs 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 10 276 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635045 100635045 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr13:100635045delT ENST00000376335.3 + 1 1020 c.727delT c.(727-729)ttfs p.F244fs NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 244 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ccCCGGTGCCTTTTTCCGCTA 0.562 7 739 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 11 304 --- --- --- --- COX16 51241 broad.mit.edu 37 14 70795929 70795930 + Frame_Shift_Ins INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:70795929_70795930insT ENST00000389912.6 - 3 308_309 c.165_166insA c.(163-168)aatgaafs p.NE55fs COX16_ENST00000557612.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA NM_016468.6 NP_057552.1 COX16 cytochrome c oxidase assembly homolog (S. cerevisiae) large_intestine(1)|lung(2) 3 TTCTCTTTCAGTTTTTTTTCAA 0.292 7 390 --- --- --- --- EML5 161436 broad.mit.edu 37 14 89154769 89154769 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:89154769delT ENST00000554922.1 - 18 2836 c.2588delA c.(2587-2589)atfs p.N863fs EML5_ENST00000380664.5_Frame_Shift_Del_p.N863fs|EML5_ENST00000352093.5_Intron NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 863 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CATTGTGTCATTTTTCCCCAG 0.393 7 1651 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|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 endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 9 286 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron 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 12 909 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 848 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 21 429 --- --- --- --- BRF1 2972 broad.mit.edu 37 14 105683882 105683882 + Splice_Site DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr14:105683882delT ENST00000546474.1 - 15 16730 c.1772_splice c.e15+1 p.R591_splice BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Splice_Site_p.R498_splice|BRF1_ENST00000446501.2_Splice_Site_p.R353_splice|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000327359.3_Splice_Site_p.R476_splice|BRF1_ENST00000392557.4_Splice_Site_p.R387_splice|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000547530.1_Splice_Site_p.R117_splice|BRF1_ENST00000379937.2_Splice_Site_p.R564_splice NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 591 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GGATGGTACCTTTTCCCCACA 0.682 7 507 --- --- --- --- CYFIP1 23191 broad.mit.edu 37 15 22954351 22954353 + In_Frame_Del DEL AAG AAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:22954351_22954353delAAG ENST00000313077.7 + 14 1626_1628 c.1501_1503delAAG c.(1501-1503)del p.K504del CYFIP1_ENST00000560848.1_In_Frame_Del_p.K504del NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 504 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GCAGGCCATCAAGAAGAAGAAGA 0.596 7 479 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25310192 25310193 + RNA INS - - A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:25310192_25310193insA ENST00000549804.2 + 0 538 SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA ATGAGTCCTCCAAAAAAAACAT 0.475 11 938 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 8 427 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25432666 25432666 + RNA DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:25432666delG ENST00000424208.1 + 0 761 NR_003305.1 TGTGTGTGGTGGGGGGTGCCC 0.552 11 1863 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 9 499 --- --- --- --- SPINT1 6692 broad.mit.edu 37 15 41149075 41149077 + In_Frame_Del DEL CAC CAC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:41149075_41149077delCAC ENST00000344051.4 + 11 1726_1728 c.1492_1494delCAC c.(1492-1494)del p.H501del SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 501 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CTTCCACGGACACCACCACCACC 0.586 8 1783 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53992038 53992038 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:53992038delA ENST00000396328.1 - 13 1913 c.1674delT c.(1672-1674)ttfs p.F558fs WDR72_ENST00000360509.5_Frame_Shift_Del_p.F558fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.F555fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.F568fs NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 558 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCCTCACAGGAAAAAGGTGCT 0.463 9 1257 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 7 661 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78755395 78755395 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr15:78755395delT ENST00000258886.8 + 3 387 c.238delT c.(238-240)ttfs p.F81fs IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 81 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGAAGTGCCCTTTTTCCCTGC 0.358 7 1110 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 23 188 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:709106delC ENST00000549091.1 + 25 3124 c.3032delC c.(3031-3033)gcfs p.A1011fs WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TTCCCCGGGGCCCCCCCAGCC 0.657 8 655 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 7 1610 --- --- --- --- NAGPA 51172 broad.mit.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:5083678_5083679delGC ENST00000312251.3 - 2 156_157 c.137_138delGC c.(136-138)cfs p.R46fs RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 46 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCGGGGGAGGCGCGCGCGCGC 0.767 7 142 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del|RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del 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 7 367 --- --- --- --- RP11-812E19.9 0 broad.mit.edu 37 16 33647495 33647495 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:33647495delC ENST00000558425.1 - 2 104 c.105delG c.(103-105)ggfs p.G35fs GTCTCAGGGACCCCCCAGGCT 0.567 7 1162 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 7 382 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 16 606 --- --- --- --- CDH3 1001 broad.mit.edu 37 16 68718504 68718504 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:68718504delA ENST00000264012.4 + 10 1745 c.1201delA c.(1201-1203)aafs p.K401fs CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 401 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTTTGAGGCCAAAAACCAGCA 0.522 7 2341 --- --- --- --- WDR59 79726 broad.mit.edu 37 16 74976691 74976691 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:74976691delT ENST00000262144.6 - 7 609 c.479delA c.(478-480)atfs p.N160fs NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 160 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GCAGTTAGCATTTTTTTTATT 0.502 8 434 --- --- --- --- SPG7 6687 broad.mit.edu 37 16 89613072 89613073 + Frame_Shift_Ins INS - - G rs111475461 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr16:89613072_89613073insG ENST00000268704.2 + 11 1471_1472 c.1456_1457insG c.(1456-1458)ggafs p.G486fs NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 486 R -> Q. cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) GCAGGAGAGGCGGGAGATTTTT 0.594 27 1022 --- --- --- --- BCL6B 255877 broad.mit.edu 37 17 6927858 6927858 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:6927858delC ENST00000293805.5 + 4 632 c.540delC c.(538-540)ggfs p.G180fs BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 180 Pro-rich. nucleus zinc ion binding p.S183fs*6(1) skin(1) 1 GCAGTCAAGGCCCCCCCAGTC 0.617 7 1238 --- --- --- --- CTDNEP1 23399 broad.mit.edu 37 17 7150149 7150149 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:7150149delA ENST00000573600.1 - 5 742 c.321delT c.(319-321)ttfs p.F107fs CTDNEP1_ENST00000318988.6_Frame_Shift_Del_p.F107fs|CTDNEP1_ENST00000574322.1_Frame_Shift_Del_p.F107fs|RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_5'UTR O95476 CNEP1_HUMAN CTD nuclear envelope phosphatase 1 107 FCP1 homology. nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity p.F106fs(2) central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCTTATGTACAAAAAACCGGA 0.493 7 2147 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del 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 7 281 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:17699993_17699995delGCA ENST00000353383.1 + 3 4200_4202 c.3731_3733delGCA c.(3730-3735)cgc>c p.RS1244del RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1244 Poly-Ser. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TTGCGGAGCCGCAGCAGCAGCAG 0.626 8 414 --- --- --- --- SMCR7 0 broad.mit.edu 37 17 18167778 18167780 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:18167778_18167780delGCT ENST00000323019.4 + 4 1276_1278 c.1065_1067delGCT c.(1063-1068)cgg>cg p.RL355del SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR NM_001144900.1|NM_139162.3 NP_001138372.1|NP_631901.2 Q96C03 SMCR7_HUMAN 355 integral to membrane protein binding p.L356R(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(4) 9 all_neural(463;0.228) CTCGCCGGCGGCTGCTGCTGCTG 0.685 16 557 --- --- --- --- BRCA1 672 broad.mit.edu 37 17 41246532 41246532 + Frame_Shift_Del DEL T T - rs80357911 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:41246532delT ENST00000309486.4 - 9 1155 c.128delA c.(127-129)agfs p.K43fs BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.K292fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000357654.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.K339fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 339 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CAGATCTACCTTTTTTTCTGT 0.438 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 7 1303 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128628 45128629 + RNA INS - - T TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:45128628_45128629insT ENST00000575173.1 - 0 418 ATTCTGGTGTGtttttttttgt 0.337 9 354 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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) 10 681 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 7 39 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60366593 60366594 + RNA INS - - A TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:60366593_60366594insA ENST00000602493.1 - 0 430 GTTGAGAGAAGAAAAAAAAAAG 0.272 7 99 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141032 66141032 + RNA DEL C C - rs76883902 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr17:66141032delC ENST00000590019.1 - 0 70 AAAAAAAAAACATAAGCCAAA 0.338 14 233 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 9 119 --- --- --- --- DSC3 1825 broad.mit.edu 37 18 28581674 28581674 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr18:28581674delA ENST00000434452.1 - 14 2299 c.2145delT c.(2143-2145)ttfs p.F715fs DSC3_ENST00000360428.4_Frame_Shift_Del_p.F715fs NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 715 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TAGTTGCACCAAAAACTCCAC 0.289 7 590 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 6 10 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 9 349 --- --- --- --- CCDC151 115948 broad.mit.edu 37 19 11541818 11541818 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:11541818delA ENST00000356392.4 - 2 354 c.267delT c.(265-267)ttfs p.F89fs CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Frame_Shift_Del_p.F35fs|CCDC151_ENST00000591179.1_Frame_Shift_Del_p.F89fs NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 89 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 GAGAGCTCTCAAAAAAAGCCT 0.537 8 1196 --- --- --- --- CCDC130 81576 broad.mit.edu 37 19 13873132 13873134 + In_Frame_Del DEL AGG AGG - rs148655062 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:13873132_13873134delAGG ENST00000586600.1 + 10 1096_1098 c.593_595delAGG c.(592-597)cag>c p.QE198del CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del P13994 CC130_HUMAN coiled-coil domain containing 130 198 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AAAGCCATCCAGGAGGAGGAGGA 0.586 8 993 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ACGGTGGGTATTTTTTTTGTG 0.502 10 920 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29851033 29851033 + RNA DEL A A - rs71171729 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:29851033delA ENST00000582581.1 - 0 2030 NR_040029.1 caaatattttaaaaaaaagag 0.343 8 1157 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 11 127 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 11 1505 --- --- --- --- TIMM50 92609 broad.mit.edu 37 19 39972604 39972604 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:39972604delA ENST00000314349.4 + 2 632 c.499delA c.(499-501)aafs p.K168fs TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Frame_Shift_Del_p.K65fs NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 65 FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGCTATGCCAAAAAAGTTGC 0.607 9 1015 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 14 229 --- --- --- --- DHX34 9704 broad.mit.edu 37 19 47883158 47883160 + In_Frame_Del DEL GGA GGA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:47883158_47883160delGGA ENST00000328771.4 + 14 3247_3249 c.2898_2900delGGA c.(2896-2901)ctg>ct p.LE966del NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 966 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCAGCAGCTGGAGGAGGAGGAG 0.660 7 395 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)del p.L22del NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) AGGGCACCACcagcagcagcagc 0.690 12 194 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 8 434 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 17 557 --- --- --- --- ZNF548 147694 broad.mit.edu 37 19 57908592 57908592 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr19:57908592delT ENST00000598895.1 + 3 444 c.228delT c.(226-228)ccfs p.P76fs AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_Intron|ZNF548_ENST00000336128.7_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000366197.5_Intron Q8NEK5 ZN548_HUMAN zinc finger protein 548 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGTTACCCCTTTTTACCCAA 0.542 10 1677 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10620245 10620245 + Frame_Shift_Del DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:10620245delG ENST00000254958.5 - 26 4073 c.3558delC c.(3556-3558)ccfs p.P1186fs JAG1_ENST00000423891.2_Frame_Shift_Del_p.P1027fs NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1186 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GCGTGCCGTTGGGGGGCTTCT 0.517 Alagille Syndrome 7 1534 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 610 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 11 323 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11097726 11097726 + RNA DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr21:11097726delG ENST00000470054.1 - 0 223 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) GCCAGTTTCAGCGAAGGCACT 0.587 8 194 --- --- --- --- SH3BGR 6450 broad.mit.edu 37 21 40823995 40823995 + Frame_Shift_Del DEL G G - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr21:40823995delG ENST00000333634.4 + 1 240 c.162delG c.(160-162)ttfs p.L54fs SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000458295.1_Intron NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 54 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GGGGTGTGTTGGGGGGAGTCC 0.552 9 1548 --- --- --- --- TMPRSS3 64699 broad.mit.edu 37 21 43795963 43795963 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr21:43795963delC ENST00000291532.3 - 12 2164 c.1209delG c.(1207-1209)ggfs p.G403fs TMPRSS3_ENST00000380399.1_Frame_Shift_Del_p.G487fs|TMPRSS3_ENST00000433957.2_Frame_Shift_Del_p.G402fs|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Frame_Shift_Del_p.G400fs NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 403 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 ACACCAGGGGCCCCCCGCTGT 0.607 7 1525 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 11 510 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 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 11 412 --- --- --- --- NF2 4771 broad.mit.edu 37 22 30050682 30050682 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:30050682delT ENST00000338641.4 + 5 925 c.484delT c.(484-486)ttfs p.F162fs NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 162 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CAAGCGGGGATTTTTGGCCCA 0.423 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 7 1054 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30408494 30408494 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:30408494delC ENST00000333027.3 + 13 1587 c.1259delC c.(1258-1260)acfs p.T420fs MTMR3_ENST00000323630.5_Frame_Shift_Del_p.T284fs|MTMR3_ENST00000351488.3_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000406629.1_Frame_Shift_Del_p.T420fs|MTMR3_ENST00000401950.2_Frame_Shift_Del_p.T420fs|CTA-85E5.10_ENST00000429350.1_RNA NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 420 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGGACCGCACCCCCCAGATT 0.547 12 2273 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 10 496 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 10 992 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 13 444 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 9 135 --- --- --- --- MSL3 10943 broad.mit.edu 37 X 11783683 11783683 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:11783683delA ENST00000337339.2 + 9 1033 c.1006delA c.(1006-1008)aafs p.K336fs MSL3_ENST00000361672.2_Frame_Shift_Del_p.K187fs|MSL3_ENST00000398527.2_Frame_Shift_Del_p.K324fs|MSL3_ENST00000312196.4_Frame_Shift_Del_p.K336fs|MSL3_ENST00000380693.3_Frame_Shift_Del_p.K170fs NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 336 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 AGCCACCCCCAAAAGGCGCAA 0.592 9 1378 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 14 1008 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 18 979 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGC TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:54209302_54209303insGGC ENST00000375180.2 - 1 385_386 c.329_330insGCC c.(328-330)ccc>cGCCcc p.109_110insR FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 19 54 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 7 584 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76812945 76812947 + In_Frame_Del DEL TCT TCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:76812945_76812947delTCT ENST00000373344.5 - 30 6888_6890 c.6674_6676delAGA c.(6673-6678)agg>a p.KR2225del ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2225 Poly-Lys. 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) GGAGTATCCCTCTTCTTCTTCTT 0.365 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 888 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 8 1251 --- --- --- --- PSMD10 5716 broad.mit.edu 37 X 107331258 107331258 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:107331258delT ENST00000217958.3 - 3 382 c.285delA c.(283-285)aafs p.K95fs PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000340200.5_Frame_Shift_Del_p.K62fs|PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000361815.5_Frame_Shift_Del_p.K95fs NM_002814.3|NM_170750.2 NP_002805.1|NP_736606.1 O75832 PSD10_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 95 Interaction with RELA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 CTTGAGCACCTTTTCCCAGAA 0.453 8 1334 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 12 1478 --- --- --- --- FRMD7 90167 broad.mit.edu 37 X 131212553 131212553 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:131212553delA ENST00000298542.4 - 12 1667 c.1492delT c.(1492-1494)atfs p.Y498fs FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs|FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 498 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTGTCCACATAAAAAAAGACC 0.502 8 1151 --- --- --- --- USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:132160788delA ENST00000511190.1 - 6 1930 c.1461delT c.(1459-1461)ttfs p.F487fs USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_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 11 1393 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 12 1194 --- --- --- --- SPANXN2 494119 broad.mit.edu 37 X 142803692 142803692 + Frame_Shift_Del DEL T T - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:142803692delT ENST00000370498.1 - 1 824 c.71delA c.(70-72)atfs p.N24fs NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 24 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.443 22 1386 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 10 1268 --- --- --- --- HMGB3 3149 broad.mit.edu 37 X 150156358 150156360 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:150156358_150156360delGAG ENST00000325307.7 + 5 670_672 c.574_576delGAG c.(574-576)del p.E198del HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 198 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) ggaggaagaagaggaggaggagg 0.443 7 440 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8317-01A-11D-2396-08 TCGA-HZ-8317-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9626cf9d-70d8-414a-87ff-4626c3cc4023 c3e58127-1737-432b-b0a5-aedcfc3ddab4 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 16 999 --- --- --- ---