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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 20 227 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842333 154842333 + Silent SNP C C T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:154842333C>T ENST00000271915.3 - 1 423 c.108G>A c.(106-108)caG>caA p.Q36Q NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 36 Poly-Gln. integral to membrane calmodulin binding 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) gctgctgttgctgctgctgct 0.672000 3 48 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43161989 43161989 + Missense_Mutation SNP T T G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:43161989T>G ENST00000509634.1 + 5 1364 c.908T>G c.(907-909)tTt>tGt p.F303C ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.F303C|ZNF131_ENST00000509156.1_Missense_Mutation_p.F337C|ZNF131_ENST00000399534.1_Missense_Mutation_p.F337C|ZNF131_ENST00000505606.2_Missense_Mutation_p.F303C P52739 ZN131_HUMAN zinc finger protein 131 337 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 GAGAAACAGTTTGACCATTTT 0.328000 7 282 0 0 1 0 0 TNK1 8711 broad.mit.edu 37 17 7287071 7287071 + Missense_Mutation SNP C C A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:7287071C>A ENST00000570896.1 + 6 916 c.470C>A c.(469-471)cCg>cAg p.P157Q TNK1_ENST00000311668.2_Missense_Mutation_p.P157Q|TNK1_ENST00000576812.1_Missense_Mutation_p.P157Q Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 157 Protein kinase. protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) CCCGAAGGCCCGATGGGCACA 0.627000 3 79 0.00909568 0.00920797 1 1 0 KIAA0907 22889 broad.mit.edu 37 1 155887399 155887399 + Missense_Mutation SNP T T G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:155887399T>G ENST00000368320.3 - 11 1356 c.1331A>C c.(1330-1332)cAg>cCg p.Q444P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q444P Q7Z7F0 K0907_HUMAN KIAA0907 444 Pro-rich. p.Q444P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggGCCAGC 0.562000 24 178 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 8 62 0 0 1 0 0 OR1E2 8388 broad.mit.edu 37 17 3336543 3336543 + Missense_Mutation SNP C C A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:3336543C>A ENST00000248384.1 - 1 592 c.593G>T c.(592-594)tGc>tTc p.C198F NM_003554.1 NP_003545.1 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, member 2 198 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 AGTGTCAGAGCAGGCCAGCTT 0.458000 7 252 6.31663e-08 6.7268e-08 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 22 323 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53231138 53231138 + Silent SNP C C T rs61733871 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:53231138C>T ENST00000452825.3 - 11 2095 c.1563G>A c.(1561-1563)caG>caA p.Q521Q KDM5C_ENST00000375379.3_Silent_p.Q588Q|KDM5C_ENST00000375383.3_Silent_p.Q547Q|KDM5C_ENST00000404049.3_Silent_p.Q587Q|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Silent_p.Q588Q NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 588 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CTCCTGCACACTGGTTTGTGC 0.483000 """N, F, S""" clear cell renal carcinoma 8 223 0 0 1 0 0 DPY19L2P2 0 broad.mit.edu 37 7 102883490 102883490 + RNA SNP A A C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:102883490A>C ENST00000312132.4 - 0 2619 CCAGTTCAGTACCACTGTAAA 0.303000 3 74 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 233 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303922 151303922 + Silent SNP A A G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:151303922A>G ENST00000370323.4 - 4 487 c.171T>C c.(169-171)tcT>tcC p.S57S MAGEA10_ENST00000244096.3_Silent_p.S57S|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 57 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) aggaggaggaagaggaggagg 0.557000 6 249 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844710 18844710 + RNA SNP C C A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:18844710C>A ENST00000412938.1 + 0 2960 AAAATTCCGACCATGGCAGAG 0.557000 7 51 8.12818e-05 8.54501e-05 1 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701712 56701712 + Silent SNP T T C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:56701712T>C ENST00000586855.2 - 5 1285 c.972A>G c.(970-972)ccA>ccG p.P324P ZSCAN5B_ENST00000358992.3_Silent_p.P324P A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 324 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CAGCTTGTCCTGGGGATTCTC 0.567000 11 625 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) TGGTActactgctgctgctgc 0.502000 T MLL ALL 11 576 0 0 1 0 0 LINC00886 0 broad.mit.edu 37 3 156528401 156528401 + RNA SNP G G A rs9812169 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:156528401G>A ENST00000472943.1 - 0 148 NR_038387.1 ACACACCTGAGCTAGATGCTT 0.483000 6 244 0 0 1 0 0 SPZ1 84654 broad.mit.edu 37 5 79616605 79616605 + Missense_Mutation SNP C C G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:79616605C>G ENST00000296739.4 + 1 816 c.571C>G c.(571-573)Cag>Gag p.Q191E NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AAAGAAACAGCAGATGATAAT 0.353000 9 424 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40820376 40820376 + Missense_Mutation SNP A A C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:40820376A>C ENST00000396617.3 - 8 901 c.311T>G c.(310-312)gTg>gGg p.V104G MKL1_ENST00000407029.1_Missense_Mutation_p.V104G|MKL1_ENST00000402042.1_Missense_Mutation_p.V104G|MKL1_ENST00000355630.3_Missense_Mutation_p.V104G Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 104 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGGATAGTTCACCTGGCCCAC 0.592000 T RBM15 acute megakaryocytic leukemia 8 198 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473194 22473194 + RNA SNP G G C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:22473194G>C ENST00000557788.2 - 0 76 TCCTGGGCCCGACTCCTGCAG 0.617000 8 485 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 17 139 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287900 33287900 + Silent SNP C C T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:33287900C>T ENST00000374542.5 - 5 1557 c.1353G>A c.(1351-1353)gaG>gaA p.E451E DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 451 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 cttcttcttcctcctcctcct 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 5 205 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 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) aggaagaagaggaggaggagg 0.443000 7 176 0 0 1 0 0 hsa-mir-7162 0 broad.mit.edu 37 15 62539781 62539781 + RNA SNP A A G rs2611797 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:62539781A>G ENST00000570077.1 - 0 170 GCTGGTTAGCATCAGGGGCTT 0.537000 6 123 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204305987 204305987 + Silent SNP T T G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:204305987T>G ENST00000319170.5 - 14 2225 c.1926A>C c.(1924-1926)ccA>ccC p.P642P RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P694P NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 642 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 gagggggtggtggagggggtg 0.602000 6 67 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 18 190 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 9 301 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75476754 75476754 + RNA SNP C C G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:75476754C>G ENST00000459803.1 - 0 602 NR_024241.1 CCGGCTGTGACAGTCACTGAA 0.597000 5 199 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43161998 43161998 + Missense_Mutation SNP T T C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:43161998T>C ENST00000509634.1 + 5 1373 c.917T>C c.(916-918)tTt>tCt p.F306S ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.F306S|ZNF131_ENST00000509156.1_Missense_Mutation_p.F340S|ZNF131_ENST00000399534.1_Missense_Mutation_p.F340S|ZNF131_ENST00000505606.2_Missense_Mutation_p.F306S P52739 ZN131_HUMAN zinc finger protein 131 340 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 TTTGACCATTTTGGACATTTT 0.318000 7 270 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 6 244 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 7 243 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803673 142803673 + RNA SNP C C T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:142803673C>T ENST00000423385.1 - 0 1292 atgttctatgcatttatcatc 0.303000 16 173 0 0 1 0 0 C5orf45 51149 broad.mit.edu 37 5 179271228 179271228 + Splice_Site SNP C C T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:179271228C>T ENST00000518219.1 - 4 227 c.e4-1 C5orf45_ENST00000523084.1_Splice_Site|C5orf45_ENST00000518235.1_Splice_Site|C5orf45_ENST00000521333.1_Splice_Site|C5orf45_ENST00000403396.2_Splice_Site|C5orf45_ENST00000292586.6_Splice_Site|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000376931.2_Intron Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 TTCTAGAGACCTTCAGGGAAG 0.552000 8 321 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121182749 121182749 + Silent SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:121182749G>A ENST00000392870.2 + 5 740 c.411G>A c.(409-411)ccG>ccA p.P137P GRK5_ENST00000369108.3_Silent_p.P32P NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 137 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TACAGAAGCCGTGCAAAGAAC 0.587000 11 705 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 10 241 0 0 1 0 0 MANBA 4126 broad.mit.edu 37 4 103592551 103592551 + Missense_Mutation SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:103592551G>A ENST00000226578.4 - 9 1216 c.1117C>T c.(1117-1119)Cgg>Tgg p.R373W MANBA_ENST00000505239.1_Missense_Mutation_p.R316W NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 373 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) AAAAGGAGCCGTAACCTGTAG 0.348000 5 125 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(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 0.537000 T MLL ALL 18 256 0 0 1 0 0 SCNN1D 6339 broad.mit.edu 37 1 1222261 1222262 + Frame_Shift_Ins INS - - C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:1222261_1222262insC ENST00000338555.2 + 5 1677_1678 c.533_534insC c.(532-534)gccfs p.A178fs SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.A178fs|SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.A342fs|SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.A244fs sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) TCCGCCACTGTCCCCCGCCACG 0.644 9 382 --- --- --- --- NADK 65220 broad.mit.edu 37 1 1688592 1688594 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:1688592_1688594delAGG ENST00000344463.4 - 6 952_954 c.731_733delCCT c.(730-735)ggg>g p.AW244del NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron O95544 NADK_HUMAN NAD kinase 131 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) TGTGCACCCCAGGCCCCCTTCCC 0.626 18 116 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 13 1316 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 10 1233 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 26 651 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 994 --- --- --- --- AGL 178 broad.mit.edu 37 1 100378028 100378028 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:100378028delA ENST00000294724.4 + 29 4382 c.3904delA c.(3904-3906)aafs p.K1303fs AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1303 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGAATTATCCAAAAAAAATAT 0.323 12 440 --- --- --- --- HIAT1 64645 broad.mit.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:100534122delT ENST00000370152.3 + 7 935 c.799delT c.(799-801)ttfs p.F268fs RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 268 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) ATATTCCAGCTTTTTTTTATA 0.388 8 600 --- --- --- --- AP4B1 10717 broad.mit.edu 37 1 114438939 114438939 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:114438939delA ENST00000369569.1 - 8 1731 c.1451delT c.(1450-1452)tcfs p.F484fs AP4B1_ENST00000369567.1_Frame_Shift_Del_p.F316fs|AP4B1_ENST00000256658.4_Frame_Shift_Del_p.F484fs|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 484 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCGGGAGAGGAAAAGGCGCAG 0.458 7 768 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_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 12 473 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 7 135 --- --- --- --- FLAD1 80308 broad.mit.edu 37 1 154962050 154962050 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:154962050delA ENST00000368433.1 + 3 1475 c.1132delA c.(1132-1134)aafs p.K379fs FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000292180.3_Frame_Shift_Del_p.K379fs Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 379 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.K378E(3) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTCTTTGGGGAAAAAGGTGGC 0.567 7 698 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 43 1024 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 11 262 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 8 804 --- --- --- --- TGFB2 7042 broad.mit.edu 37 1 218609370 218609371 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:218609370_218609371insA ENST00000366929.4 + 6 1364_1365 c.897_898insA c.(895-900)agaaaafs p.RK299fs TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Frame_Shift_Ins_p.RK271fs NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 271 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AGTCCACTAGGAAAAAAAACAG 0.431 7 352 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 10 382 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240371335 240371337 + In_Frame_Del DEL CCC CCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr1:240371335_240371337delCCC ENST00000319653.9 + 5 3453_3455 c.3223_3225delCCC c.(3223-3225)del p.P1079del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1079 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGCGGGCATACCCCCTCCGCCCC 0.729 9 158 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 17 784 --- --- --- --- GPR113 165082 broad.mit.edu 37 2 26534413 26534413 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:26534413delC ENST00000333478.6 - 8 2168 c.1586delG c.(1585-1587)gtfs p.G529fs GPR113_ENST00000421160.2_Frame_Shift_Del_p.G659fs|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Frame_Shift_Del_p.G331fs|GPR113_ENST00000311519.1_Frame_Shift_Del_p.G728fs NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 728 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G529fs*46(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGGACCAACCCCCCCTGCC 0.612 7 523 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 11 263 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 8 453 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 10 212 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 10 407 --- --- --- --- SNRNP27 11017 broad.mit.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - rs79372020 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:70131463delT ENST00000409116.1 + 5 452 c.426delT c.(424-426)gafs p.D142fs SNRNP27_ENST00000244227.3_3'UTR Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 0 mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 TGAAGGATGATTTTTTTTCCC 0.348 9 339 --- --- --- --- REV1 51455 broad.mit.edu 37 2 100055102 100055102 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:100055102delT ENST00000258428.3 - 6 1402 c.1174delA c.(1174-1176)tgfs p.M392fs REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Frame_Shift_Del_p.M392fs NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 392 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGTTTTCATTTTTTTTAAC 0.348 Direct reversal of damage 11 606 --- --- --- --- COL5A2 1290 broad.mit.edu 37 2 189943835 189943836 + Splice_Site INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:189943835_189943836insA ENST00000374866.3 - 15 1235 c.e15-2 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGCTTCACCCTAAAAAAAAATG 0.381 10 398 --- --- --- --- TMEFF2 23671 broad.mit.edu 37 2 193059175 193059177 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:193059175_193059177delGCA ENST00000409056.3 - 1 73_75 c.74_76delTGC c.(73-78)ccc>c p.LP25del TMEFF2_ENST00000272771.5_In_Frame_Del_p.LP25del|TMEFF2_ENST00000392314.1_In_Frame_Del_p.LP25del Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 25 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AGCATGACGGGCAGCAGCAGCAG 0.601 7 417 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 13 429 --- --- --- --- RAPH1 65059 broad.mit.edu 37 2 204322298 204322298 + Frame_Shift_Del DEL T T - rs2469953 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:204322298delT ENST00000319170.5 - 8 1412 c.1113delA c.(1111-1113)aafs p.K371fs RAPH1_ENST00000457812.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000374493.3_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000439222.1_Frame_Shift_Del_p.K396fs|RAPH1_ENST00000419464.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000374488.2_Frame_Shift_Del_p.K396fs|RAPH1_ENST00000374489.2_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000423104.1_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000453034.1_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000308091.4_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000418114.1_Frame_Shift_Del_p.K371fs NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 371 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGCTGTTTCTTTTTTCCCCA 0.373 8 785 --- --- --- --- TRPM8 79054 broad.mit.edu 37 2 234879010 234879010 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr2:234879010delC ENST00000324695.4 + 17 2335 c.2295delC c.(2293-2295)cafs p.H765fs TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 765 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CGGTGCCACACCCCCCCGAGC 0.577 7 1845 --- --- --- --- HHATL 57467 broad.mit.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:42739670_42739672delGAA ENST00000441594.1 - 6 916_918 c.655_657delTTC c.(655-657)del p.F219del HHATL_ENST00000310417.5_In_Frame_Del_p.F219del NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 219 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGATGGGCCCGAAGAAGAAGAAG 0.552 8 556 --- --- --- --- CDC25A 993 broad.mit.edu 37 3 48200922 48200923 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:48200922_48200923delTC ENST00000302506.3 - 14 1753_1754 c.1345_1346delGA c.(1345-1347)tfs p.D449fs CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 449 Rhodanese. cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) ACCCAGGCGATCTCTCTCTCTC 0.515 8 441 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 11 592 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 15 601 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 19 428 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 11 1645 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 8 261 --- --- --- --- DPPA4 55211 broad.mit.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:109049606delT ENST00000335658.6 - 5 498 c.444delA c.(442-444)aafs p.K148fs DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 148 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 CCACCTTTAATTTTTTTTGCA 0.413 8 539 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 10 523 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 26 525 --- --- --- --- TFDP2 7029 broad.mit.edu 37 3 141692946 141692947 + Frame_Shift_Ins INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:141692946_141692947insT ENST00000499676.2 - 8 1097_1098 c.426_427insA c.(424-429)aaaaatfs p.N143fs TFDP2_ENST00000397991.4_Frame_Shift_Ins_p.N175fs|TFDP2_ENST00000479040.1_Frame_Shift_Ins_p.N142fs|TFDP2_ENST00000317104.7_Frame_Shift_Ins_p.N127fs|TFDP2_ENST00000310282.6_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000486111.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000495310.1_Frame_Shift_Ins_p.N106fs|TFDP2_ENST00000467072.1_Frame_Shift_Ins_p.N143fs|TFDP2_ENST00000489671.1_Frame_Shift_Ins_p.N203fs|TFDP2_ENST00000477292.1_Frame_Shift_Ins_p.N67fs NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 203 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 CACTTGATTTCTTTTTTTTCCT 0.342 10 551 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 12 482 --- --- --- --- SEC62 7095 broad.mit.edu 37 3 169700663 169700664 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:169700663_169700664insA ENST00000337002.4 + 4 478_479 c.420_421insA c.(418-423)gaaaaafs p.EK140fs SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 140 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 aagaaaaagagaaaaaaaaaga 0.277 10 115 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 9 362 --- --- --- --- PDE6B 5158 broad.mit.edu 37 4 661763 661765 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 19 750 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 9 44 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 8 496 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 9 427 --- --- --- --- ANTXR2 118429 broad.mit.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - rs12647691 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:80905990delC ENST00000403729.2 - 13 1594 c.1069delG c.(1069-1071)ccfs p.A357fs ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 357 Poly-Pro. A -> P (in dbSNP:rs12647691). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGTGCAGGGGCGGGTGGTGGT 0.348 Juvenile Hyaline Fibromatosis 10 93 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs 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 8 395 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 8 496 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA 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 15 1355 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 14 320 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126792989 126792991 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:126792989_126792991delCAG ENST00000274473.6 + 26 3669_3671 c.3402_3404delCAG c.(3400-3405)aac>aa p.NS1134del MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1134 Necessary for formation of large intracellular vacuoles.|Ser-rich. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) gcagcagcaacagcagcagcagc 0.512 8 326 --- --- --- --- CDC25C 995 broad.mit.edu 37 5 137627690 137627690 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:137627690delT ENST00000323760.6 - 8 1009 c.731delA c.(730-732)agfs p.K244fs CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 244 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGAAAAATACTTTTTTTTAAC 0.388 7 512 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156535948 156535950 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:156535948_156535950delAGC ENST00000307851.4 - 1 775_777 c.45_47delGCT c.(43-48)cta>ct p.LL17del HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 17 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAAGTAGTAGCAGCAGCAGCA 0.438 7 350 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 13 421 --- --- --- --- CANX 821 broad.mit.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:179149920delT ENST00000247461.4 + 11 1498 c.1298delT c.(1297-1299)atfs p.I433fs CANX_ENST00000512607.2_Frame_Shift_Del_p.I325fs|CANX_ENST00000415618.2_Frame_Shift_Del_p.I468fs|CANX_ENST00000452673.2_Frame_Shift_Del_p.I433fs|CANX_ENST00000504734.1_Frame_Shift_Del_p.I433fs NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 433 SDI -> LTF (in Ref. 9; AAA35696). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTCTGACATTTTTTTTGAC 0.423 8 512 --- --- --- --- TRIM52 84851 broad.mit.edu 37 5 180687612 180687614 + In_Frame_Del DEL TCC TCC - rs146030758 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr5:180687612_180687614delTCC ENST00000327767.4 - 1 505_507 c.201_203delGGA c.(199-204)gac>ga p.ED67del TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 67 Glu-rich. intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) CGCTtcctcgtcctcctcctcct 0.581 7 474 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_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 12 481 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084620 31084622 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:31084620_31084622delCCA ENST00000376288.2 - 2 796_798 c.770_772delTGG c.(769-774)gac>g p.VD257del PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 257 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CCGTGCTGGTCCACCACCACCAC 0.635 8 249 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35478775 35478777 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:35478775_35478777delTCC ENST00000229771.6 - 5 439_441 c.360_362delGGA c.(358-363)gaa>ga p.EE122del TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 122 Poly-Glu. Missing (in RP14). dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 gtcctcctcttcctcctcctcct 0.567 7 617 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 17 547 --- --- --- --- UBR2 23304 broad.mit.edu 37 6 42611951 42611951 + Splice_Site DEL G G - rs112519289 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:42611951delG ENST00000372901.1 + 19 2355 c.e19-1 UBR2_ENST00000372883.3_Splice_Site|UBR2_ENST00000372899.1_Splice_Site Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AAAAAAAAAAGACAGGTGTCT 0.373 7 484 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 7 1290 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039411 55039411 + Frame_Shift_Del DEL C C - rs76774128 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:55039411delC ENST00000370862.3 + 1 362 c.26delC c.(25-27)tcfs p.S9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTGGAGGACTCCCCCCCTTGT 0.567 7 765 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 12 433 --- --- --- --- MDN1 23195 broad.mit.edu 37 6 90432675 90432675 + Splice_Site DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:90432675delT ENST00000369393.3 - 40 6081 c.5967_splice c.e40+1 p.K1989_splice MDN1_ENST00000428876.1_Splice_Site_p.K1989_splice Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1989 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GAAACTCACCTTTTTTTTGTC 0.403 16 946 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs|FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 9 1209 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR 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 7 688 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 7 921 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560589 161560589 + Frame_Shift_Del DEL G G - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:161560589delG ENST00000320285.4 - 8 1119 c.907delC c.(907-909)ggfs p.R304fs AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 304 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.R303fs*7(2)|p.R303fs*60(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CAGGGCCGCCGGGGGGGCACC 0.627 7 741 --- --- --- --- MLLT4-AS1 0 broad.mit.edu 37 6 168227187 168227189 + RNA DEL CAT CAT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr6:168227187_168227189delCAT ENST00000359760.5 - 0 200_202 NR_027906.1 CCATCGGACCCATCACCGCCCGT 0.680 7 543 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621849 6621849 + Frame_Shift_Del DEL T T - rs34551853 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:6621849delT ENST00000396706.2 + 5 780 c.337delT c.(337-339)ttfs p.F115fs ZDHHC4_ENST00000335965.6_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Del_p.F115fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Frame_Shift_Del_p.F115fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Del_p.F115fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 115 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGTAAACCTGTTTTTTTTCAC 0.453 10 1117 --- --- --- --- COA1 55744 broad.mit.edu 37 7 43679188 43679188 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:43679188delT ENST00000395879.1 - 5 2115 c.434delA c.(433-435)agfs p.K145fs COA1_ENST00000223336.6_Frame_Shift_Del_p.K145fs|COA1_ENST00000488813.1_5'UTR|COA1_ENST00000395880.3_Frame_Shift_Del_p.K145fs|COA1_ENST00000310564.6_Frame_Shift_Del_p.K145fs cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) TCTCTACTCCTTTTTCACTTC 0.517 7 688 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72662705 72662705 + RNA DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:72662705delT ENST00000425256.1 - 0 978 NR_002164.1 CTTAGttttatttttttttaa 0.333 10 294 --- --- --- --- STYXL1 51657 broad.mit.edu 37 7 75651194 75651196 + In_Frame_Del DEL ATC ATC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:75651194_75651196delATC ENST00000451157.1 - 4 449_451 c.280_282delGAT c.(280-282)del p.D94del STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000248600.1_In_Frame_Del_p.D94del|STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 94 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 CAGAGTCTGAATCATCATCATCA 0.433 7 1745 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595446 82595447 + Frame_Shift_Ins INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:82595446_82595447insT ENST00000423517.2 - 4 3994_3995 c.3657_3658insA c.(3655-3660)aataatfs p.NN1219fs PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1158 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGGATTAGTTTTTTTTCTT 0.386 8 743 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87074281 87074282 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:87074281_87074282insA ENST00000265723.4 - 10 1126_1127 c.1015_1016insT c.(1015-1017)aatfs p.N339fs ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 339 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.S339fs*3(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AATTAGGATTGAAAAAAAAACC 0.347 9 181 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 7 319 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 8 213 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 9 150 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102964992 102964992 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:102964992delT ENST00000379263.3 - 6 840 c.590delA c.(589-591)atfs p.N197fs PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 197 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTAGGAACATTTTTTTTATT 0.239 7 452 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114270016 114270018 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:114270016_114270018delCAG ENST00000393500.3 + 11 1148_1150 c.328_330delCAG c.(328-330)del p.Q116del FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del O15409 FOXP2_HUMAN forkhead box P2 191 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 gcagcagcaacagcagcagcagc 0.507 17 351 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 10 152 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151874013 151874013 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr7:151874013delT ENST00000355193.2 - 38 8743 c.8525delA c.(8524-8526)atfs p.N2842fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.N2842fs lysine (K)-specific methyltransferase 2C ATTCTCATCATTTTTTTCAGT 0.378 8 740 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 8 335 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 13 365 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 7 1226 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 9 557 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 7 60 --- --- --- --- SLC26A7 115111 broad.mit.edu 37 8 92406218 92406218 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:92406218delT ENST00000276609.3 + 18 2125 c.1886delT c.(1885-1887)atfs p.I629fs SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.I629fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.I629fs NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 629 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) GAGAAACCAATTTTTTTTGAA 0.343 9 490 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 11 1324 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 9 184 --- --- --- --- FER1L6 654463 broad.mit.edu 37 8 125080031 125080031 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:125080031delA ENST00000522917.1 + 28 3908 c.3702delA c.(3700-3702)ggfs p.G1234fs FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1234fs NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1234 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATCCCAAGGGAAAAAAAGGCA 0.388 7 266 --- --- --- --- AGO2 27161 broad.mit.edu 37 8 141554345 141554345 + Frame_Shift_Del DEL G G - rs148575703 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:141554345delG ENST00000220592.5 - 14 1918 c.1806delC c.(1804-1806)ccfs p.P602fs AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CATCCCCGGCGGGGGGGTGAG 0.647 9 1025 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 13 467 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 10 75 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:117406_117407insG ENST00000382500.2 - 1 1010_1011 c.713_714insC c.(712-714)cccfs p.P238fs NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 8 280 --- --- --- --- RP11-125B21.2 0 broad.mit.edu 37 9 2552346 2552347 + RNA INS - - AA rs71492001 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:2552346_2552347insAA ENST00000416826.2 - 0 185 RP11-125B21.2_ENST00000424605.1_RNA|RP11-125B21.2_ENST00000453601.1_RNA TCTCTAAATCCAAAAAAAATGT 0.386 7 7 --- --- --- --- KIAA1432 57589 broad.mit.edu 37 9 5743708 5743708 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:5743708delA ENST00000414202.2 + 10 1257 c.1066delA c.(1066-1068)aafs p.K357fs KIAA1432_ENST00000418622.3_Frame_Shift_Del_p.K278fs|KIAA1432_ENST00000449720.2_Frame_Shift_Del_p.K278fs|KIAA1432_ENST00000381532.2_Frame_Shift_Del_p.K278fs|KIAA1432_ENST00000251879.6_Frame_Shift_Del_p.K357fs NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 357 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGATGGCACCAAAAAAGATCC 0.279 7 992 --- --- --- --- NOL6 65083 broad.mit.edu 37 9 33466939 33466939 + Frame_Shift_Del DEL G G - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:33466939delG ENST00000379471.2 - 15 2008 c.1921delC c.(1921-1923)tgfs p.L641fs NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Frame_Shift_Del_p.L589fs Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 641 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGTGCATCCAGGGGGCCCCCC 0.512 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 2053 --- --- --- --- VCP 7415 broad.mit.edu 37 9 35062983 35062985 + In_Frame_Del DEL AAG AAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:35062983_35062985delAAG ENST00000358901.6 - 7 1696_1698 c.801_803delCTT c.(799-804)ttg>tt p.FL267del NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 267 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACCATTGATCAAGAAGAAGAAGG 0.463 8 912 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115969556 115969556 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:115969556delT ENST00000238256.3 - 3 307 c.190delA c.(190-192)cafs p.T64fs FKBP15_ENST00000493847.1_5'UTR NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 64 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GCTGGTGCTGTTTTTGGTGTT 0.418 8 1503 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 18 421 --- --- --- --- ENG 2022 broad.mit.edu 37 9 130581107 130581107 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:130581107delT ENST00000344849.3 - 11 1596 c.1316delA c.(1315-1317)agfs p.K439fs RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Frame_Shift_Del_p.K439fs|ENG_ENST00000480266.1_Intron|RP11-228B15.4_ENST00000425991.1_RNA P17813 EGLN_HUMAN endoglin 439 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GCAGTGCACCTTTTTCTGGGG 0.637 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 8 1052 --- --- --- --- CRAT 1384 broad.mit.edu 37 9 131864814 131864814 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:131864814delC ENST00000318080.2 - 5 789 c.495delG c.(493-495)ggfs p.G165fs CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 165 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) ACAGTGGCTTCCCCCCCAGGT 0.607 9 1890 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:135941982delG ENST00000372080.4 + 5 629 c.613delG c.(613-615)ggfs p.G206fs CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 203 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 9 1023 --- --- --- --- SURF2 6835 broad.mit.edu 37 9 136226880 136226882 + In_Frame_Del DEL GGA GGA - rs149969130 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:136226880_136226882delGGA ENST00000371964.4 + 4 433_435 c.392_394delGGA c.(391-396)cgg>c p.RR133del SURF2_ENST00000495524.1_3'UTR NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 133 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) CTGGTGCACCGGAGGAGGAGGAG 0.635 7 156 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056884 140056886 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr9:140056884_140056886delGAG ENST00000371561.3 + 13 2877_2879 c.1780_1782delGAG c.(1780-1782)del p.E598del GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 598 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGTGAACAGCGAGGAGGAGGAGG 0.739 12 219 --- --- --- --- SFMBT2 57713 broad.mit.edu 37 10 7212995 7212997 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:7212995_7212997delCTC ENST00000361972.4 - 20 2527_2529 c.2437_2439delGAG c.(2437-2439)del p.E813del SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 813 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 GAACCAGTCTCTCCTCCTCCTCC 0.596 9 972 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 21 429 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 7 793 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 8 699 --- --- --- --- SPOCK2 9806 broad.mit.edu 37 10 73822559 73822561 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:73822559_73822561delCCT ENST00000373109.2 - 11 1676_1678 c.1232_1234delAGG c.(1231-1236)ggc>g p.EG411del SPOCK2_ENST00000536168.1_In_Frame_Del_p.EG411del|SPOCK2_ENST00000317376.4_In_Frame_Del_p.EG411del NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 411 Glu-rich. extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCTGCCTCGCcctcctcctcctc 0.670 7 187 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98778793 98778794 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:98778793_98778794insG ENST00000266058.4 - 27 3062_3063 c.2817_2818insC c.(2815-2820)acgccafs p.P940fs ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Ins_p.P940fs NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 940 EGF-like 1. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TCGTTGTGGCAGGTGCCCTGGT 0.639 8 353 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 8 1015 --- --- --- --- SCD 6319 broad.mit.edu 37 10 102107836 102107838 + In_Frame_Del DEL ACC ACC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:102107836_102107838delACC ENST00000370355.2 + 2 424_426 c.43_45delACC c.(43-45)del p.T19del NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 19 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TAGCTCCTATACCACCACCACCA 0.581 12 826 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 13 662 --- --- --- --- TACC2 10579 broad.mit.edu 37 10 123970380 123970380 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr10:123970380delC ENST00000369005.1 + 9 6780 c.6440delC c.(6439-6441)acfs p.T2147fs TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2147 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCCACAGAGACCCCCCCAGTG 0.522 11 1063 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 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;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 22 655 --- --- --- --- IFITM1 8519 broad.mit.edu 37 11 314210 314210 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:314210delC ENST00000408968.3 + 1 358 c.40delC c.(40-42)ccfs p.P15fs IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs NM_003641.3 NP_003632.3 P13164 IFM1_HUMAN interferon induced transmembrane protein 1 15 negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding|receptor signaling protein activity large_intestine(1)|lung(3) 4 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-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) GCTGGGGCCACCCCCCAGCAC 0.562 7 502 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 32 628 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 8 682 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 12 197 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 11 821 --- --- --- --- CALCA 796 broad.mit.edu 37 11 14991489 14991490 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:14991489_14991490delCT ENST00000361010.3 - 3 292_293 c.218_219delAG c.(217-219)gfs p.E73fs CALCA_ENST00000396372.2_Frame_Shift_Del_p.E73fs|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Frame_Shift_Del_p.E73fs|CALCA_ENST00000331587.4_Frame_Shift_Del_p.E73fs|CALCA_ENST00000359642.3_Frame_Shift_Del_p.E73fs NM_001033953.2 NP_001029125.1 P06881 CALCA_HUMAN calcitonin-related polypeptide alpha 73 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1) 8 Phentolamine(DB00692) ACCTGGAGCCCTCTCTCTCTTG 0.624 OREG0020791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 545 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 8 451 --- --- --- --- CCDC73 493860 broad.mit.edu 37 11 32635951 32635951 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 9 192 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:47359101_47359103delTCT ENST00000399249.2 - 24 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del|MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 10 347 --- --- --- --- PRG2 5553 broad.mit.edu 37 11 57156679 57156681 + In_Frame_Del DEL TCT TCT - rs77900153 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:57156679_57156681delTCT ENST00000311862.5 - 3 241_243 c.168_170delAGA c.(166-171)gag>ga p.EE58del PRG2_ENST00000525955.1_In_Frame_Del_p.EE58del|PRG2_ENST00000533605.1_In_Frame_Del_p.EE58del|RP11-872D17.8_ENST00000529411.1_In_Frame_Del_p.EE163del NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACTCCTCCTCTTCCTCCAGCT 0.547 10 601 --- --- --- --- FADS2 9415 broad.mit.edu 37 11 61607885 61607887 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:61607885_61607887delTCC ENST00000278840.4 + 3 1028_1030 c.398_400delTCC c.(397-402)ttc>t p.FL133del FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 133 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACGTGTTCTTCCTCCTCCTCCT 0.537 7 1070 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649528 62649529 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:62649528_62649529insA ENST00000377892.1 + 6 1208_1209 c.984_985insA c.(982-987)gcaaaafs p.AK328fs SLC3A2_ENST00000535296.1_Frame_Shift_Ins_p.AK266fs|SLC3A2_ENST00000377890.2_Frame_Shift_Ins_p.AK297fs|SLC3A2_ENST00000377891.2_Frame_Shift_Ins_p.AK298fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Frame_Shift_Ins_p.AK196fs|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377889.2_Frame_Shift_Ins_p.AK235fs P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 297 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.K331fs*31(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 TGCAATCGGCTAAAAAAAAGAG 0.460 10 443 --- --- --- --- PCNXL3 399909 broad.mit.edu 37 11 65404248 65404259 + In_Frame_Del DEL CCTCAGCCTCAG CCTCAGCCTCAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:65404248_65404259delCCTCAGCCTCAG ENST00000355703.3 + 35 6443_6454 c.5904_5915delCCTCAGCCTCAG c.(5902-5916)gac>ga p.DLSLS1968del NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1968 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CGCCTCTAGAcctcagcctcagcctcagcctc 0.646 2 4 --- --- --- --- POLD3 10714 broad.mit.edu 37 11 74336608 74336609 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:74336608_74336609insA ENST00000263681.2 + 8 1018_1019 c.889_890insA c.(889-891)aaafs p.K297fs POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 297 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) GCTGCAGAAGGAAAAAAAAAGG 0.460 8 155 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 18 211 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 11 55 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108559769 108559769 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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* 8 1571 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427683 118427685 + In_Frame_Del DEL ATC ATC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:118427683_118427685delATC ENST00000264020.2 - 5 651_653 c.274_276delGAT c.(274-276)del p.D92del IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 41 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TTTCAGATGAatcatcatcatca 0.478 12 489 --- --- --- --- BCL9L 283149 broad.mit.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G rs139987150 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:118770651_118770652insG ENST00000334801.3 - 7 4344_4345 c.3380_3381insC c.(3379-3381)cccfs p.P1127fs BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1127 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GCGGTGGTGGTGGGGGGGGCAG 0.703 7 205 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 11 398 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 11 179 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752495 129752496 + Frame_Shift_Ins INS - - T rs149369172 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr11:129752495_129752496insT ENST00000446488.3 - 9 1035_1036 c.932_933insA c.(931-933)agtfs p.S311fs NFRKB_ENST00000524794.1_Frame_Shift_Ins_p.S336fs|NFRKB_ENST00000304521.5_Frame_Shift_Ins_p.S311fs|NFRKB_ENST00000524746.1_Frame_Shift_Ins_p.S311fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 311 Lys-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTTCCTTAACCTTTTTTTTAAG 0.441 8 407 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del 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 9 210 --- --- --- --- LRRC23 10233 broad.mit.edu 37 12 7015019 7015019 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:7015019delC ENST00000007969.8 + 3 357 c.137delC c.(136-138)acfs p.T46fs LRRC23_ENST00000449039.1_Intron|LRRC23_ENST00000436789.1_Frame_Shift_Del_p.T46fs|LRRC23_ENST00000443597.2_Frame_Shift_Del_p.T46fs|LRRC23_ENST00000323702.5_Frame_Shift_Del_p.T46fs|LRRC23_ENST00000433346.1_Frame_Shift_Del_p.T46fs|LRRC23_ENST00000429740.1_Frame_Shift_Del_p.T46fs NM_001135217.1|NM_201650.2 NP_001128689.1|NP_964013.1 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 46 NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 13 TGGCTGCCCACCCCCCTCACG 0.572 7 410 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - rs145908611 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:27950769delG ENST00000381271.2 + 3 1499 c.1188delG c.(1186-1188)gtfs p.V396fs NM_020782.1 NP_065833.1 kelch-like family member 42 TCTACATCGTGGGGGGGTGTC 0.592 9 748 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. 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 TGGGGGAGGGGGTGGTGGTGGTG 0.483 8 757 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 14 1013 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:55794610delT ENST00000379665.2 + 1 397 c.298delT c.(298-300)ttfs p.F101fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGCCCAAGTATTTTTTTTAAT 0.358 7 571 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 10 216 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 10 343 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:58025102_58025103insC ENST00000341156.4 - 3 847_848 c.263_264insG c.(262-264)gctfs p.A88fs B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.G88fs*24(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 14 694 --- --- --- --- TMPO 7112 broad.mit.edu 37 12 98921671 98921672 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:98921671_98921672insA ENST00000556029.1 + 2 643_644 c.287_288insA c.(286-288)aaafs p.K96fs TMPO_ENST00000261210.5_Frame_Shift_Ins_p.K96fs|TMPO_ENST00000266732.4_Frame_Shift_Ins_p.K96fs|TMPO_ENST00000393053.2_Frame_Shift_Ins_p.K96fs|TMPO_ENST00000343315.5_Frame_Shift_Ins_p.K96fs NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 96 Linker.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CAGAAAGCCACAAAAAAAACTG 0.332 10 471 --- --- --- --- CHPT1 56994 broad.mit.edu 37 12 102108337 102108338 + Frame_Shift_Ins INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:102108337_102108338insT ENST00000549872.1 + 3 667_668 c.477_478insT c.(475-480)tgttttfs p.CF159fs CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Frame_Shift_Ins_p.CF159fs Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 159 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 ATCCTGACTGGTTTTTTTTCTG 0.342 7 287 --- --- --- --- HVCN1 84329 broad.mit.edu 37 12 111099110 111099112 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:111099110_111099112delCTC ENST00000356742.5 - 3 916_918 c.163_165delGAG c.(163-165)del p.E55del HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 55 Poly-Glu. response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 GTGGTGGCTGctcctcctcctcc 0.606 8 289 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 9 262 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 10 761 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 284 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124848228 124848228 + Frame_Shift_Del DEL G G - rs12321697 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr12:124848228delG ENST00000356219.3 - 22 3080 c.2925delC c.(2923-2925)ccfs p.P975fs NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs 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 8 1020 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 9 434 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46549613 46549614 + Frame_Shift_Del DEL CT CT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr13:46549613_46549614delCT ENST00000242848.4 - 12 2620_2621 c.2272_2273delAG c.(2272-2274)gfs p.R758fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 758 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctctctctccctctctctctct 0.530 7 180 --- --- --- --- LRCH1 23143 broad.mit.edu 37 13 47243183 47243186 + Frame_Shift_Del DEL CCTG CCTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr13:47243183_47243186delCCTG ENST00000311191.6 + 3 700_703 c.471_474delCCTG c.(469-474)gcfs p.AL157fs LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs NM_001164213.1 NP_001157685.1 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 157 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AGCTGTCCGCCCTGCCTGCCTGCC 0.436 7 954 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 18 491 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 7 1311 --- --- --- --- LTB4R 1241 broad.mit.edu 37 14 24785074 24785074 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:24785074delT ENST00000396789.4 + 2 1942 c.217delT c.(217-219)ttfs p.F74fs LTB4R_ENST00000396782.2_Frame_Shift_Del_p.F74fs|LTB4R_ENST00000345363.3_Frame_Shift_Del_p.F74fs NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 74 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CACTGCTCCCTTTTTCCTTCA 0.582 7 798 --- --- --- --- MGAT2 4247 broad.mit.edu 37 14 50088320 50088321 + Frame_Shift_Ins INS - - C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:50088320_50088321insC ENST00000305386.2 + 1 832_833 c.334_335insC c.(334-336)ctgfs p.L112fs RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 112 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) TAAGGCTGGCACCTGGGCCCCC 0.614 12 830 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 8 127 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74824462 74824463 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:74824462_74824463insG ENST00000256362.4 + 2 1217_1218 c.976_977insG c.(976-978)gggfs p.G326fs NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 326 transposition, DNA-mediated DNA binding|transposase activity p.V329fs*25(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CAGCTTCCACCGGGGGGGCGTC 0.644 7 643 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 11 731 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_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 7 605 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102551161 102551163 + In_Frame_Del DEL TCT TCT - rs55793809 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:102551161_102551163delTCT ENST00000334701.7 - 6 1483_1485 c.1202_1204delAGA c.(1201-1206)att>a p.KI401del HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 279 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ttttccttaatcttcttcttctt 0.389 7 222 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329451 106329453 + RNA DEL GTA GTA - rs2338628 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:106329451_106329453delGTA ENST00000390560.2 - 0 15_17 AGACGTCCATGTAGTAGTAGTAG 0.537 7 660 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 8 1324 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 13 816 --- --- --- --- EIF2AK4 440275 broad.mit.edu 37 15 40282508 40282508 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:40282508delT ENST00000263791.5 + 16 2604 c.2561delT c.(2560-2562)atfs p.I854fs EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.I826fs NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 854 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCTGTCAACATTTTTTTGGAT 0.358 9 1511 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038023 43038024 + Frame_Shift_Ins INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:43038023_43038024insT ENST00000267890.6 - 15 3812_3813 c.3704_3705insA c.(3703-3705)aagfs p.K1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTGGCTTACTCTTCCCTTGGGG 0.535 12 1004 --- --- --- --- TTBK2 146057 broad.mit.edu 37 15 43038025 43038026 + Frame_Shift_Ins INS - - C TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:43038025_43038026insC ENST00000267890.6 - 15 3810_3811 c.3702_3703insG c.(3700-3705)ggagagfs p.E1235fs NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1235 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GGCTTACTCTTCCCTTGGGGGG 0.540 22 1016 --- --- --- --- SPG11 80208 broad.mit.edu 37 15 44907750 44907750 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:44907750delA ENST00000261866.7 - 16 2865 c.2849delT c.(2848-2850)tgfs p.L950fs SPG11_ENST00000558319.1_Frame_Shift_Del_p.L950fs|SPG11_ENST00000535302.2_Frame_Shift_Del_p.L950fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L950fs NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 950 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTCAGATGCCAAAAAAACCCC 0.403 10 338 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53992038 53992038 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 7 1110 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59186041 59186041 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:59186041delT ENST00000380516.2 - 12 1714 c.1627delA c.(1627-1629)gtfs p.S543fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.S112fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 543 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTTCTTCACTTTTTTTAATC 0.313 7 614 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000449142.2_3'UTR NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 10 150 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr15:93540315_93540316insA ENST00000394196.4 + 29 4792_4793 c.3724_3725insA c.(3724-3726)aaafs p.K1242fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1242 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GGACCCTGAAGAAAAAAAAAAG 0.347 24 416 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3817721 3817721 + Splice_Site DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:3817721delT ENST00000262367.5 - 16 4059 c.3250_splice c.e16+1 p.I1084_splice CREBBP_ENST00000382070.3_Splice_Site_p.I1046_splice NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1084 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AATGGCCTACTTTTTTTGCGC 0.398 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 7 586 --- --- --- --- NTAN1 123803 broad.mit.edu 37 16 15131931 15131931 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:15131931delT ENST00000287706.3 - 10 982 c.890delA c.(889-891)atfs p.N297fs PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 297 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 GCCATCTTCATTTTTTTTGTA 0.383 10 640 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 14 348 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 10 3588 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 8 295 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29998498 29998500 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:29998498_29998500delCTG ENST00000308893.4 + 16 3948_3950 c.2905_2907delCTG c.(2905-2907)del p.L974del TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 974 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCTGCCCCTCCTGCTGCTGCTGC 0.709 7 355 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30736314 30736314 + Frame_Shift_Del DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:30736314delC ENST00000262518.4 + 25 5954 c.5569delC c.(5569-5571)ccfs p.P1858fs SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1796fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1700fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1858 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCGCTCTGGTCCCCCCAGCCC 0.612 7 1197 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 25 84 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 18 533 --- --- --- --- ITGAE 3682 broad.mit.edu 37 17 3664312 3664314 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:3664312_3664314delTCC ENST00000263087.4 - 6 689_691 c.591_593delGGA c.(589-594)gaa>ga p.EE197del NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 197 Glu-rich (acidic).|X-domain (extra domain). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CTCACCAGCTtcctcctcctcct 0.586 7 347 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:19232950delA ENST00000314728.5 + 9 1885 c.1401delA c.(1399-1401)tcfs p.S467fs EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TTCGGACTTCAAAAAAAACAG 0.393 10 475 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 9 291 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 35 1379 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128628 45128629 + RNA INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:45128628_45128629insT ENST00000575173.1 - 0 418 ATTCTGGTGTGtttttttttgt 0.337 8 223 --- --- --- --- HOXB2 3212 broad.mit.edu 37 17 46622130 46622132 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:46622130_46622132delAGG ENST00000330070.4 - 1 1309_1311 c.142_144delCCT c.(142-144)del p.P48del HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 48 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 TTTGCTCGAAAGGAGGAGGAGGA 0.596 8 455 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 7 396 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 13 978 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 7 454 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 7 238 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141017 66141017 + RNA DEL C C - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:66141017delC ENST00000590019.1 - 0 70 AAGATTTCTACAAAAAAAAAA 0.323 7 205 --- --- --- --- CD300A 11314 broad.mit.edu 37 17 72469708 72469709 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:72469708_72469709insG ENST00000360141.3 + 2 362_363 c.74_75insG c.(73-75)gggfs p.G25fs CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 25 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 AGGACCGTGGCGGGCCCCGTGG 0.569 12 710 --- --- --- --- CD300A 11314 broad.mit.edu 37 17 72469711 72469712 + Frame_Shift_Ins INS - - GC TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:72469711_72469712insGC ENST00000360141.3 + 2 365_366 c.77_78insGC c.(76-78)gccfs p.A26fs CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 26 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 ACCGTGGCGGGCCCCGTGGGGG 0.569 13 682 --- --- --- --- GGA3 23163 broad.mit.edu 37 17 73239175 73239175 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr17:73239175delT ENST00000245541.6 - 6 713 c.497delA c.(496-498)acfs p.N166fs GGA3_ENST00000538886.1_Frame_Shift_Del_p.N44fs|GGA3_ENST00000578348.1_Frame_Shift_Del_p.N44fs|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582717.1_Frame_Shift_Del_p.N94fs|GGA3_ENST00000582486.1_Frame_Shift_Del_p.N94fs|GGA3_ENST00000351904.7_Frame_Shift_Del_p.N133fs NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 166 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) AAAAACAGGGTTTTTGGGACG 0.542 8 882 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 12 286 --- --- --- --- HAUS1 115106 broad.mit.edu 37 18 43685174 43685174 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr18:43685174delA ENST00000282058.6 + 2 125 c.45delA c.(43-45)ttfs p.L15fs HAUS1_ENST00000585518.1_Frame_Shift_Del_p.L15fs NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 15 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 CTGCGTGGTTAAAAAAAATAT 0.393 7 240 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 15 225 --- --- --- --- MLLT1 4298 broad.mit.edu 37 19 6222272 6222274 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:6222272_6222274delAGG ENST00000252674.7 - 6 1131_1133 c.968_970delCCT c.(967-972)ttc>t p.SF323del NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 323 Poly-Ser. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 TTGTCCGAGAAGGAGGAGGAGGA 0.650 T MLL AL 7 217 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9059157 9059157 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:9059157delT ENST00000397910.4 - 3 28492 c.28289delA c.(28288-28290)acfs p.N9430fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9432 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAGGGCTGTTTTTTTCCAC 0.512 7 756 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:11618821delG ENST00000270517.7 - 5 916 c.781delC c.(781-783)agfs p.Q261fs ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 261 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ATGTGGGGCTGGGGGGGATCT 0.582 7 703 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 12 806 --- --- --- --- KIAA1683 80726 broad.mit.edu 37 19 18376953 18376953 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:18376953delT ENST00000392413.3 - 3 1612 c.1397delA c.(1396-1398)acfs p.N466fs KIAA1683_ENST00000600359.2_Frame_Shift_Del_p.N420fs|KIAA1683_ENST00000600328.2_Frame_Shift_Del_p.N466fs NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 466 mitochondrion p.N466S(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTGCAATGGGTTTTTGGCTGG 0.612 7 681 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs 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 15 760 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944580 19944580 + RNA DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:19944580delT ENST00000591884.1 + 0 520 ATGTTTAATCttttttttttt 0.378 7 20 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 20 942 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 458 --- --- --- --- DMWD 1762 broad.mit.edu 37 19 46289542 46289544 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:46289542_46289544delCTC ENST00000270223.6 - 3 1255_1257 c.1210_1212delGAG c.(1210-1212)del p.E404del DMWD_ENST00000377735.3_In_Frame_Del_p.E404del NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 404 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CAGCCTCGGGCTCCTCCTCCTCC 0.695 9 338 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 37 759 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 7 303 --- --- --- --- NUP62 23636 broad.mit.edu 37 19 50411672 50411673 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:50411672_50411673insG ENST00000596217.1 - 2 3279_3280 c.1392_1393insC c.(1390-1395)ccccgafs p.R465fs IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Frame_Shift_Ins_p.R465fs|NUP62_ENST00000597723.1_Frame_Shift_Ins_p.R389fs|NUP62_ENST00000597029.1_Frame_Shift_Ins_p.R465fs|NUP62_ENST00000352066.3_Frame_Shift_Ins_p.R465fs|NUP62_ENST00000422090.2_Frame_Shift_Ins_p.R465fs P37198 NUP62_HUMAN nucleoporin 62kDa 465 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTGGTGTCGGCGGGGGCCCCGG 0.579 7 1141 --- --- --- --- LILRB5 0 broad.mit.edu 37 19 54754872 54754873 + Frame_Shift_Ins INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:54754872_54754873insA ENST00000450632.1 - 13 1839_1840 c.1762_1763insT c.(1762-1764)agtfs p.S588fs LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 394 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) GGAAAGGACTCTCTCAGTGTCC 0.609 9 159 --- --- --- --- NLRP2 55655 broad.mit.edu 37 19 55494630 55494632 + In_Frame_Del DEL GAA GAA - rs3745905 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:55494630_55494632delGAA ENST00000543010.1 + 6 1707_1709 c.1564_1566delGAA c.(1564-1566)del p.E523del NLRP2_ENST00000538819.1_In_Frame_Del_p.E499del|NLRP2_ENST00000339757.7_In_Frame_Del_p.E501del|NLRP2_ENST00000427260.2_In_Frame_Del_p.E500del|NLRP2_ENST00000537859.1_In_Frame_Del_p.E501del|NLRP2_ENST00000448584.2_In_Frame_Del_p.E523del|NLRP2_ENST00000263437.6_In_Frame_Del_p.E520del|NLRP2_ENST00000391721.4_In_Frame_Del_p.E499del NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 523 NACHT.|Poly-Glu. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GAAGGAGGAGGAAGAGGATAGGG 0.567 8 468 --- --- --- --- ZNF548 147694 broad.mit.edu 37 19 57908592 57908592 + Frame_Shift_Del DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:57908592delT ENST00000598895.1 + 3 444 c.228delT c.(226-228)ccfs p.P76fs AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_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 7 1298 --- --- --- --- ZNF329 79673 broad.mit.edu 37 19 58639340 58639341 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr19:58639340_58639341insG ENST00000598312.1 - 4 1763_1764 c.1530_1531insC c.(1528-1533)ccgccgfs p.P511fs ZNF329_ENST00000358067.4_Frame_Shift_Ins_p.P511fs NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 511 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) GGACACCGGCTGGGACCCTCCC 0.500 8 1108 --- --- --- --- RP4-697P8.3 0 broad.mit.edu 37 20 10869748 10869748 + RNA DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr20:10869748delT ENST00000448859.1 - 0 1058 RP11-103J8.1_ENST00000605292.1_RNA TCtttttttattttttttttt 0.438 8 126 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr20:24524183_24524185delGGA ENST00000376862.3 + 2 1083_1085 c.450_452delGGA c.(448-453)gtg>gt p.VE150del NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 150 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTACGATGTGGAGGAGGAGGAG 0.547 12 955 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29624034 29624035 + Frame_Shift_Ins INS - - G rs73621649 TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr20:29624034_29624035insG ENST00000439954.2 + 4 419_420 c.73_74insG c.(73-75)tgafs p.*25fs FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000278882.3_Intron endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTCTCCAATATTGATGAGGGC 0.287 9 130 --- --- --- --- PIGP 51227 broad.mit.edu 37 21 38444815 38444815 + Translation_Start_Site DEL T T - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr21:38444815delT ENST00000399098.1 - 0 193 PIGP_ENST00000464265.1_Frame_Shift_Del_p.M25fs|PIGP_ENST00000360525.3_Start_Codon_Del|PIGP_ENST00000399102.1_Start_Codon_Del|PIGP_ENST00000399103.1_Start_Codon_Del|PIGP_ENST00000329667.3_5'UTR P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) TTTTCCACCATTTTTCCTGGG 0.488 8 1114 --- --- --- --- PWP2 5822 broad.mit.edu 37 21 45535692 45535694 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr21:45535692_45535694delGAG ENST00000291576.7 + 7 854_856 c.727_729delGAG c.(727-729)del p.E247del NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 247 Poly-Glu. cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) ggaggaggaagaggaggaggagg 0.640 8 200 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR 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 8 352 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17071786 17071787 + Frame_Shift_Ins INS - - T TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:17071786_17071787insT ENST00000359963.3 - 1 1913_1914 c.1654_1655insA c.(1654-1656)cctfs p.P552fs NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 552 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAATCCAAGGATTTTTTTTGTT 0.411 7 577 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 8 432 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 22 546 --- --- --- --- MLC1 23209 broad.mit.edu 37 22 50506871 50506872 + Frame_Shift_Ins INS - - G TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chr22:50506871_50506872insG ENST00000311597.5 - 10 1490_1491 c.884_885insC c.(883-885)cgcfs p.R295fs MLC1_ENST00000431262.2_Frame_Shift_Ins_p.R265fs|MLC1_ENST00000535444.1_Frame_Shift_Ins_p.R216fs|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Frame_Shift_Ins_p.R261fs|MLC1_ENST00000450140.2_Frame_Shift_Ins_p.R243fs|MLC1_ENST00000395876.2_Frame_Shift_Ins_p.R295fs NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 295 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CTTTTATGGCTGGCGGGTAATC 0.525 12 590 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030586 47030588 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:47030586_47030588delGAG ENST00000377604.3 + 4 1103_1105 c.361_363delGAG c.(361-363)del p.E125del RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 125 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ggaggaggatgaggaggaggagg 0.665 7 52 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928153 92928155 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:92928153_92928155delTGC ENST00000373079.3 - 1 412_414 c.149_151delGCA c.(148-153)act>a p.ST50del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 50 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 ctgccactagtgctgctgctgct 0.586 8 80 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994114 140994116 + In_Frame_Del DEL CTC CTC - rs141900922 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:140994114_140994116delCTC ENST00000285879.4 + 4 1210_1212 c.924_926delCTC c.(922-927)agc>ag p.SS312del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 312 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.483 HNSCC(15;0.026) 8 1763 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del 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 7 503 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa 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 9 395 --- --- --- --- UTY 7404 broad.mit.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-HZ-7920-01A-11D-2201-08 TCGA-HZ-7920-10B-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9b48534-d832-41b4-b67a-d8f4b44d24f1 f34639f3-59c0-430e-9ae0-1eef76fe86aa g.chrY:15448217_15448218insA ENST00000331397.4 - 16 2778 c.e16-2 UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATGAAGCCCCTAAAAAAAAAAA 0.361 19 95 --- --- --- ---