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 ZNF567 163081 broad.mit.edu 37 19 37210852 37210852 + Missense_Mutation SNP C C G TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr19:37210852C>G ENST00000585696.1 + 3 2363 c.1133C>G c.(1132-1134)aCt>aGt p.T378S ZNF567_ENST00000536254.2_Missense_Mutation_p.T409S|ZNF567_ENST00000392163.2_Missense_Mutation_p.T378S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.T378S|ZNF567_ENST00000360729.4_Missense_Mutation_p.T378S Q8N184 ZN567_HUMAN zinc finger protein 567 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GCAAATCTTACTGTACATCAG 0.413000 75 300 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38820472 38820472 + Silent SNP G G A rs61757626 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr6:38820472G>A ENST00000359357.3 + 38 5072 c.4818G>A c.(4816-4818)ccG>ccA p.P1606P DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCTTACAGCCGCATCTCCCTG 0.393000 4 203 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TGACAGTCCATCTCTGTACGA 0.363000 6 277 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 103 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005484 1005484 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr19:1005484G>A ENST00000234389.3 + 3 2003 c.1984G>A c.(1984-1986)Gcc>Acc p.A662T NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 662 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CAGCTACACGGCCAACCTGGC 0.677000 4 154 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316552 203316552 + Missense_Mutation SNP T T C TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:203316552T>C ENST00000354955.4 - 2 1310 c.847A>G c.(847-849)Aat>Gat p.N283D FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 283 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GCCAGGCCATTGTTGGTTAGA 0.562000 29 352 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50519379 50519379 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr19:50519379G>A ENST00000599538.1 - 3 705 c.41C>T c.(40-42)gCg>gTg p.A14V VRK3_ENST00000377011.2_Missense_Mutation_p.A14V|VRK3_ENST00000593919.1_Missense_Mutation_p.A14V|VRK3_ENST00000601912.1_Missense_Mutation_p.A14V|VRK3_ENST00000601341.1_Missense_Mutation_p.A14V|VRK3_ENST00000316763.3_Missense_Mutation_p.A14V|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.A14V|VRK3_ENST00000594948.1_Missense_Mutation_p.A14V|VRK3_ENST00000443401.2_5'UTR Q8IV63 VRK3_HUMAN vaccinia related kinase 3 14 nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TTTGAATGCCGCTTGGATACT 0.468000 6 310 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 11 527 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186313202 186313202 + Silent SNP T T C TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:186313202T>C ENST00000367478.3 - 26 3734 c.3438A>G c.(3436-3438)gtA>gtG p.V1146V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1146 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CACAGCGACATACACATTTGG 0.403000 T NTRK1 papillary thyroid 5 153 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 5 405 0 0 1 0 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 8 559 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153594439 153594439 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chrX:153594439G>A ENST00000422373.1 - 9 1630 c.1382C>T c.(1381-1383)gCc>gTc p.A461V FLNA_ENST00000360319.4_Missense_Mutation_p.A461V|FLNA_ENST00000344736.4_Missense_Mutation_p.A461V|FLNA_ENST00000369850.3_Missense_Mutation_p.A461V NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 461 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGGCACGCCGGCAAACGTGAC 0.677000 4 260 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59479173 59479173 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:59479173C>T ENST00000240328.3 + 2 805 c.524C>T c.(523-525)gCg>gTg p.A175V RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 175 AGKA -> TDKT (in Ref. 4; AAB36216). cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 TGGATGGTGGCGGGCAAGGCC 0.592000 5 305 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 5 400 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627785 43627785 + Missense_Mutation SNP G G T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr9:43627785G>T ENST00000332857.6 - 4 930 c.902C>A c.(901-903)cCt>cAt p.P301H SPATA31A6_ENST00000496386.1_5'UTR NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GCGGGAAAGAGGATCTTGCTG 0.547000 11 1928 0.014758 0.0151413 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 7 292 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 152 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186114603 186114603 + Missense_Mutation SNP C C T rs144825762 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:186114603C>T ENST00000271588.4 + 92 14564 c.14335C>T c.(14335-14337)Cgg>Tgg p.R4779W HMCN1_ENST00000367492.2_Missense_Mutation_p.R4779W NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4779 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGGGCAGATGCGGCGGTACCG 0.557000 4 176 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 8 57 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869979 97869979 + Missense_Mutation SNP G G T rs111515821 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:97869979G>T ENST00000420699.2 + 50 3284 c.3040G>T c.(3040-3042)Gat>Tat p.D1014Y ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1014 p.D1014Y(5) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGGAAAAAAGGATGGAGAAAA 0.328000 5 87 0.000602214 0.000642905 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 12 383 0.000151284 0.000163719 1 1 0 SMARCA2 6595 broad.mit.edu 37 9 2039815 2039815 + Silent SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr9:2039815G>A ENST00000382203.1 + 4 914 c.705G>A c.(703-705)caG>caA p.Q235Q SMARCA2_ENST00000349721.2_Silent_p.Q235Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q235Q|SMARCA2_ENST00000382194.1_Silent_p.Q235Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 235 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcagcagcaacagcagc 0.587000 5 116 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22012962 22012962 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr8:22012962G>A ENST00000306317.2 - 2 510 c.221C>T c.(220-222)gCc>gTc p.A74V LGI3_ENST00000424267.2_Missense_Mutation_p.A74V NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 74 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) TGAGAAGGCGGCATTCACCAG 0.597000 5 255 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7725038 7725038 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:7725038C>T ENST00000303635.7 + 9 2638 c.2431C>T c.(2431-2433)Cgg>Tgg p.R811W CAMTA1_ENST00000439411.2_Missense_Mutation_p.R811W NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 811 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGACGGGGCGCGGGCCCCCTT 0.687000 T WWTR1 epitheliod hemangioendothelioma 6 457 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49667525 49667525 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr6:49667525C>T ENST00000339139.4 - 6 499 c.263G>A c.(262-264)cGc>cAc p.R88H NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 88 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) actggttttgcggtcctctgG 0.338000 5 228 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176829597 176829597 + Missense_Mutation SNP C C T rs17876034 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr5:176829597C>T ENST00000253496.3 - 13 1682 c.1634G>A c.(1633-1635)gGc>gAc p.G545D NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 545 Peptidase S1. G -> D (in dbSNP:rs17876034). Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGAGCATGCCGGGGAGGAT 0.672000 Hereditary Angioedema 4 167 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 4 182 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 4 220 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884345 36884345 + Silent SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr19:36884345C>T ENST00000392161.3 - 5 1139 c.897G>A c.(895-897)cgG>cgA p.R299R ZFP82_ENST00000392171.1_Silent_p.R299R NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCTTCTGATGCCGAGTCAGGT 0.443000 6 605 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037940 75037940 + Missense_Mutation SNP T T A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:75037940T>A ENST00000326665.5 - 14 3672 c.3454A>T c.(3454-3456)Aca>Tca p.T1152S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1152 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGAACCACTGTCTCTTTTAGT 0.468000 114 197 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26650774 26650774 + Missense_Mutation SNP C C A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:26650774C>A ENST00000527815.1 - 17 2033 c.1984G>T c.(1984-1986)Gca>Tca p.A662S AIM1L_ENST00000308182.5_Missense_Mutation_p.A491S NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 491 sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CCCAGTGCTGCATTCCAGAGG 0.632000 4 80 2.56e-06 2.80889e-06 1 1 0 TMEM181 57583 broad.mit.edu 37 6 159050843 159050843 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr6:159050843C>T ENST00000367090.3 + 15 1696 c.1685C>T c.(1684-1686)gCc>gTc p.A562V NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 562 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) TCGAAGAATGCCCTCTATGGT 0.527000 4 224 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 5 376 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 89992937 89992937 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr12:89992937C>T ENST00000428670.3 - 20 3764 c.3308G>A c.(3307-3309)gGc>gAc p.G1103D ATP2B1_ENST00000348959.3_Missense_Mutation_p.G1067D|ATP2B1_ENST00000359142.3_Missense_Mutation_p.G1103D|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G1103D|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G846D P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 1103 Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CAAGATTTGGCCACGCCGCAA 0.483000 6 559 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891414 148891414 + Silent SNP T T C TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr5:148891414T>C ENST00000261798.5 - 6 1050 c.618A>G c.(616-618)tcA>tcG p.S206S CSNK1A1_ENST00000377843.2_Silent_p.S206S|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515768.1_Silent_p.S234S|CSNK1A1_ENST00000606719.1_Silent_p.S3S|CSNK1A1_ENST00000504676.1_Silent_p.S117S|CSNK1A1_ENST00000515435.1_Silent_p.S145S NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 206 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CATATCCTAATGATTCCATGT 0.338000 7 544 0 0 1 0 0 SRGAP1 57522 broad.mit.edu 37 12 64502748 64502748 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr12:64502748G>A ENST00000355086.3 + 16 2374 c.1850G>A c.(1849-1851)cGc>cAc p.R617H RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 617 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTCACATCCGCAAACTCCTC 0.463000 6 641 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682486 126682486 + Silent SNP T T C rs76949963 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr10:126682486T>C ENST00000309035.6 - 6 2599 c.2469A>G c.(2467-2469)caA>caG p.Q823Q CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 283 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTGAGGGCTTGTGCTAAGG 0.617000 5 386 0 0 1 0 0 CBX8 57332 broad.mit.edu 37 17 77768564 77768564 + Missense_Mutation SNP T T C TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:77768564T>C ENST00000269385.4 - 5 1157 c.1040A>G c.(1039-1041)gAg>gGg p.E347G NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 347 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGACTCTTCCTCCGGGTCCCC 0.627000 8 482 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148891409 148891409 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr5:148891409C>T ENST00000261798.5 - 6 1055 c.623G>A c.(622-624)gGa>gAa p.G208E CSNK1A1_ENST00000377843.2_Missense_Mutation_p.G208E|CSNK1A1_ENST00000606299.1_Intron|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.G236E|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.G5E|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.G119E|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.G147E NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 208 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CAAAACATATCCTAATGATTC 0.333000 7 546 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 6 326 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166894518 166894518 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:166894518G>A ENST00000423058.2 - 15 2731 c.2714C>T c.(2713-2715)gCc>gTc p.A905V AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A894V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A877V|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.A905V|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 905 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCCGACCACGGCAAAAATGAA 0.468000 5 398 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32211058 32211058 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr22:32211058G>A ENST00000400246.1 + 21 1668 c.1526G>A c.(1525-1527)cGc>cAc p.R509H DEPDC5_ENST00000536766.1_Missense_Mutation_p.R481H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R509H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R509H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R509H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R509H O75140 DEPD5_HUMAN DEP domain containing 5 509 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTACCAAGCCGCACACTGCCC 0.572000 5 311 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32734896 32734896 + Missense_Mutation SNP C C G TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:32734896C>G ENST00000421745.2 + 52 10206 c.10072C>G c.(10072-10074)Ctg>Gtg p.L3358V NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3358 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TACTGCTAATCTGCTGCAGAC 0.433000 6 603 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819229 50819229 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr10:50819229G>A ENST00000374115.3 + 1 883 c.443G>A c.(442-444)cGc>cAc p.R148H CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 148 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TTCATCGACCGCATGAGCTAC 0.617000 6 432 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64677636 64677636 + Missense_Mutation SNP C C A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr11:64677636C>A ENST00000421419.2 - 13 1853 c.1739G>T c.(1738-1740)tGc>tTc p.C580F ATG2A_ENST00000377264.3_Missense_Mutation_p.C580F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 580 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 TTCTGAGTGGCAATGGCAGGC 0.687000 4 155 4.096e-09 4.55752e-09 1 1 0 TBP 6908 broad.mit.edu 37 6 170871064 170871064 + Silent SNP G G A rs112748399 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr6:170871064G>A ENST00000392092.2 + 3 519 c.240G>A c.(238-240)caG>caA p.Q80Q TBP_ENST00000540980.1_Silent_p.Q60Q|TBP_ENST00000230354.6_Silent_p.Q80Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 80 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 5 115 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 8 895 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179192636 179192636 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr5:179192636C>T ENST00000292599.3 + 2 888 c.625C>T c.(625-627)Cct>Tct p.P209S MAML1_ENST00000503050.1_3'UTR NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 209 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAGTCATTTCCTCTGAGCCT 0.527000 7 280 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 8 176 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98388169 98388169 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr10:98388169C>T ENST00000339364.5 - 9 1576 c.1457G>A c.(1456-1458)cGc>cAc p.R486H PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 486 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TAAAAACTTGCGGATCATAGA 0.448000 6 518 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 257 0 0 1 0 0 NOP9 161424 broad.mit.edu 37 14 24771231 24771231 + Missense_Mutation SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr14:24771231G>A ENST00000267425.3 + 4 962 c.869G>A c.(868-870)cGc>cAc p.R290H NOP9_ENST00000396802.3_Missense_Mutation_p.R290H NM_174913.1 NP_777573.1 NOP9 nucleolar protein GTTTTACACCGCAAACTTCCC 0.488000 7 748 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33989115 33989115 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr9:33989115C>T ENST00000379238.1 - 5 415 c.298G>A c.(298-300)Gag>Aag p.E100K UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.E100K|UBAP2_ENST00000449054.1_Missense_Mutation_p.E100K|UBAP2_ENST00000418786.2_Missense_Mutation_p.E100K Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 100 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CCTACAGTCTCCCATGAAGTC 0.343000 214 173 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 316 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121746425 121746425 + Missense_Mutation SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr12:121746425C>T ENST00000261819.3 - 17 2247 c.2126G>A c.(2125-2127)cGc>cAc p.R709H ANAPC5_ENST00000344395.4_Missense_Mutation_p.R597H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000535482.1_Missense_Mutation_p.R375H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.R597H|ANAPC5_ENST00000541887.1_Missense_Mutation_p.R696H NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 709 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTCCCTGATGCGCTCTTTGCA 0.527000 7 791 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 7 159 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73519782 73519782 + Silent SNP A A G TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:73519782A>G ENST00000545030.1 - 2 647 c.573T>C c.(571-573)atT>atC p.I191I EGR4_ENST00000436467.2_Silent_p.I88I NM_001965.3 NP_001956.3 B7ZKU3 B7ZKU3_HUMAN early growth response 4 87 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCACTGCCTGAATGAAGAAGC 0.657000 17 30 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784063 9784063 + Missense_Mutation SNP A A G TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr4:9784063A>G ENST00000304374.2 + 1 806 c.410A>G c.(409-411)gAc>gGc p.D137G NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 137 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D137G(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ATCAGCGTGGACCGCTACTGG 0.612000 5 119 0 0 1 0 0 GPD1L 23171 broad.mit.edu 37 3 32201095 32201095 + Silent SNP G G A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr3:32201095G>A ENST00000282541.5 + 7 1089 c.888G>A c.(886-888)ggG>ggA p.G296G NM_015141.3 NP_055956.1 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 296 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity large_intestine(4)|lung(7)|ovary(1) 12 TGCTGAATGGGCAAAAGCTCC 0.403000 4 297 0 0 1 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 13 68 --- --- --- --- HIAT1 64645 broad.mit.edu 37 1 100534122 100534122 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 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 7 431 --- --- --- --- SPAG17 200162 broad.mit.edu 37 1 118693199 118693199 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:118693199delT ENST00000336338.5 - 3 347 c.282delA c.(280-282)aafs p.K94fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 94 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CACCTACAGGTTTTTTTGCCT 0.254 7 609 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 2 4 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 5 9 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 8 337 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 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 9 607 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53785830 53785830 + Frame_Shift_Del DEL A A - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr3:53785830delA ENST00000288139.3 + 29 3749 c.3631delA c.(3631-3633)aafs p.K1211fs CACNA1D_ENST00000540742.1_Frame_Shift_Del_p.K98fs|CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.K1191fs|CACNA1D_ENST00000350061.5_Frame_Shift_Del_p.K1191fs NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1191 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) ATACATCCCCAAAAACCCCTA 0.498 7 901 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 10 604 --- --- --- --- RP11-553L6.2 0 broad.mit.edu 37 3 113951738 113951739 + RNA INS - - C rs60004852 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr3:113951738_113951739insC ENST00000493033.1 + 0 160 RP11-553L6.2_ENST00000481773.1_RNA ACTGCCCCCTGCCCCCCCCCCA 0.653 8 9 --- --- --- --- CPHL1P 0 broad.mit.edu 37 3 148999032 148999033 + RNA INS - - GAA rs67798399 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr3:148999032_148999033insGAA ENST00000482639.2 - 0 195 GGGAAGACACTGAACAGtaaga 0.500 4 4 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 4 7 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38020014 38020014 + Frame_Shift_Del DEL A A - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr4:38020014delA ENST00000261439.4 + 4 1277 c.922delA c.(922-924)aafs p.K309fs TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 309 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCCTGACACCAAAAAAATAGC 0.313 7 411 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 7 657 --- --- --- --- CSNK1G3 1456 broad.mit.edu 37 5 122881495 122881495 + Frame_Shift_Del DEL A A - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr5:122881495delA ENST00000395412.1 + 2 857 c.138delA c.(136-138)ggfs p.G46fs CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs NM_001044723.1 NP_001038188.1 Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 46 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) TTAGAGTTGGAAAAAAAATTG 0.363 7 683 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126792989 126792991 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 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 7 288 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 7 171 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102964992 102964992 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 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 8 857 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149526674 149526675 + RNA DEL CT CT - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr7:149526674_149526675delCT ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ccacagtcccctcagtcccctc 0.653 5 9 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 10 476 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 11 681 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 273 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 7 376 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 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_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_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 8 193 --- --- --- --- PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr12:111020740_111020742delCGC ENST00000354300.3 - 1 383_385 c.95_97delGCG c.(94-99)gac>g p.GD32del NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 AGTCCGTAGTcgccgccgccgcc 0.739 6 9 --- --- --- --- NOS1 4842 broad.mit.edu 37 12 117655862 117655862 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr12:117655862delT ENST00000317775.6 - 28 4963 c.4278delA c.(4276-4278)aafs p.K1426fs NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Frame_Shift_Del_p.K1460fs NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1426 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CATCGGTGTCTTTTTTGCTCT 0.532 8 1289 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517702 25517702 + RNA DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr13:25517702delT ENST00000429698.1 - 0 374 CCATTTGCTATTTTTTTTTCT 0.423 8 401 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 11 305 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 8 757 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782215 35782216 + Frame_Shift_Ins INS - - A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr14:35782215_35782216insA ENST00000261479.4 + 5 658_659 c.538_539insA c.(538-540)aaafs p.K180fs PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CAGCTTCCTTGAAAAAAAAGTG 0.406 8 812 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 8 1210 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78755395 78755395 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr15:78755395delT ENST00000258886.8 + 3 387 c.238delT c.(238-240)ttfs p.F81fs IREB2_ENST00000560440.1_Frame_Shift_Del_p.F81fs NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 81 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGAAGTGCCCTTTTTCCCTGC 0.358 9 1439 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 7 660 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 7 165 --- --- --- --- RP1-37N7.3 0 broad.mit.edu 37 17 18314933 18314934 + RNA INS - - T TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:18314933_18314934insT ENST00000577684.1 + 0 461_462 ccatcgccttcttcccaccctc 0.559 2 4 --- --- --- --- CCDC43 124808 broad.mit.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:42756253delT ENST00000315286.8 - 5 654 c.646delA c.(646-648)ggfs p.R216fs C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|CCDC43_ENST00000457422.2_3'UTR NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 216 lung(2) 2 Prostate(33;0.0322) CTCTGTGTCCTTTTTTTTTCC 0.463 7 191 --- --- --- --- CTD-2020K17.1 0 broad.mit.edu 37 17 43274945 43274946 + RNA INS - - A TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:43274945_43274946insA ENST00000586376.1 - 0 604 GCCTGTAgaggaggaggaggag 0.604 2 4 --- --- --- --- CTD-2532D12.4 0 broad.mit.edu 37 17 71739871 71739872 + RNA INS - - CCC rs66548966 by1000genomes TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:71739871_71739872insCCC ENST00000583854.1 + 0 166 cccctcctcctcctcttctttc 0.500 3 4 --- --- --- --- CBX8 57332 broad.mit.edu 37 17 77768449 77768449 + Frame_Shift_Del DEL A A - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr17:77768449delA ENST00000269385.4 - 5 1272 c.1155delT c.(1153-1155)ttfs p.F385fs NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 385 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding p.D381fs*>5(1)|p.F385fs*>5(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TTTTCTCTTTAAAAAAGCCTT 0.502 7 2021 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 7038885 7038885 + Frame_Shift_Del DEL T T - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chr18:7038885delT ENST00000389658.3 - 11 1580 c.1487delA c.(1486-1488)acfs p.N496fs NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 496 Laminin EGF-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCCGGGGGTTTTTTTCCTT 0.532 7 725 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 8 186 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a334957f-106e-4965-a078-651645a88240 23976f5b-528d-446d-918c-2021c7f94396 g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 8 1262 --- --- --- ---