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 SNHG14 0 broad.mit.edu 37 15 25339261 25339261 + RNA SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr15:25339261G>A ENST00000546682.1 + 0 1110 SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CGTCATCTTCGTTGAACTGAG 0.433000 5 198 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659512 24659512 + RNA SNP A A G TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr22:24659512A>G ENST00000414583.2 + 0 3037 NR_003714.1 TGCCTGGGCCATGGAGCACTC 0.473000 4 5 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105398121 105398121 + Missense_Mutation SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr14:105398121C>T ENST00000540372.1 + 8 1168 c.976C>T c.(976-978)Cgg>Tgg p.R326W PLD4_ENST00000392593.4_Missense_Mutation_p.R319W Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 319 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) GGGCCGCACCCGGGACCTGGA 0.652000 2 1 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 4 181 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 2 1 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165801923 165801923 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr6:165801923G>A ENST00000366882.1 - 18 1800 c.1646C>T c.(1645-1647)gCg>gTg p.A549V PDE10A_ENST00000354448.4_Missense_Mutation_p.A549V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A559V Q9Y233 PDE10_HUMAN phosphodiesterase 10A 549 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.A549E(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ACACAGACACGCAATCAGCAG 0.483000 32 60 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778450 56778450 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr5:56778450G>A ENST00000423391.1 - 1 186 c.85C>T c.(85-87)Cgg>Tgg p.R29W CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 29 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) AACACAGCCCGGGGGGCATCG 0.582000 9 15 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118773329 118773329 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr11:118773329G>A ENST00000334801.3 - 6 2087 c.1123C>T c.(1123-1125)Ccc>Tcc p.P375S BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 375 Necessary for interaction with CTNNB1 (By similarity).|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) GCAGGGCCGGGGGCACTGCTG 0.692000 9 23 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129912964 129912964 + Missense_Mutation SNP A A C TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr7:129912964A>C ENST00000222481.4 + 5 488 c.433A>C c.(433-435)Agc>Cgc p.S145R NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 145 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TGGTCTAGTGAGCAAAGTGAA 0.453000 14 49 0 0 1 0 0 ZNF668 79759 broad.mit.edu 37 16 31072951 31072951 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr16:31072951G>A ENST00000538906.1 - 3 2082 c.1298C>T c.(1297-1299)gCg>gTg p.A433V ZNF668_ENST00000300849.4_Missense_Mutation_p.A433V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A456V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A433V|ZNF668_ENST00000394983.2_Missense_Mutation_p.A433V|ZNF668_ENST00000417110.2_Missense_Mutation_p.A47T|ZNF668_ENST00000539836.3_Missense_Mutation_p.A456V NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CACAGGCAGCGCCAACCCCAC 0.706000 4 83 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228269 39228269 + Missense_Mutation SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr3:39228269C>T ENST00000340369.3 - 2 2896 c.2668G>A c.(2668-2670)Gtg>Atg p.V890M XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.V890M NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 890 actin binding p.V890M(1) breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTCCTTGCCACGGAGGTCCCA 0.612000 11 9 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 49 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50123646 50123646 + Silent SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr19:50123646G>A ENST00000418929.2 + 10 5547 c.5535G>A c.(5533-5535)gcG>gcA p.A1845A NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 1024 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AAACCAGGGCGATGCGGGAGA 0.587000 3 6 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237617790 237617790 + Silent SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr1:237617790C>T ENST00000366574.2 + 15 1709 c.1392C>T c.(1390-1392)caC>caT p.H464H RYR2_ENST00000360064.6_Silent_p.H462H|RYR2_ENST00000542537.1_Silent_p.H448H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 464 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTACTTCCACCCCCCAGATG 0.493000 9 16 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76112081 76112081 + Silent SNP A A G TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr7:76112081A>G ENST00000324432.5 + 5 1035 c.525A>G c.(523-525)caA>caG p.Q175Q DTX2_ENST00000413936.2_Silent_p.Q175Q|DTX2_ENST00000307569.8_Silent_p.Q175Q|DTX2_ENST00000446820.2_Silent_p.Q175Q|DTX2_ENST00000446600.1_Silent_p.Q84Q|DTX2_ENST00000430490.2_Silent_p.Q175Q NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 175 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 TGCGGCGCCAAGCAGGGCCGC 0.647000 23 17 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65496880 65496880 + Missense_Mutation SNP G G C TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr15:65496880G>C ENST00000261883.4 - 6 811 c.645C>G c.(643-645)gaC>gaG p.D215E NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 215 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 AGGCATCACAGTCAGCATTCA 0.577000 12 16 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 159046168 159046168 + Silent SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr6:159046168G>A ENST00000367090.3 + 12 1409 c.1398G>A c.(1396-1398)gcG>gcA p.A466A NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 466 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) TGGTGGCAGCGGTGTACATTC 0.547000 4 127 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64145666 64145666 + Missense_Mutation SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr3:64145666C>T ENST00000295902.6 - 4 931 c.346G>A c.(346-348)Ggg>Agg p.G116R PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G172R NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 116 PET. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTGACATTCCCGCGGCCCAAG 0.498000 25 63 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75602926 75602926 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr1:75602926G>A ENST00000294638.5 + 4 911 c.247G>A c.(247-249)Gtg>Atg p.V83M LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.V73M NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 83 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CCTGGAGATCGTGGACAAATA 0.647000 11 14 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49062390 49062390 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr3:49062390G>A ENST00000326739.4 - 11 1273 c.1234C>T c.(1234-1236)Cgc>Tgc p.R412C NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 412 IMP binding (By similarity). GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCCATACCGCGATATTTCTTT 0.542000 15 46 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108923947 108923947 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr10:108923947G>A ENST00000263054.6 - 1 345 c.338C>T c.(337-339)gCg>gTg p.A113V SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 113 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTCCTGATCCGCTCCGCTCCG 0.721000 4 8 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34490062 34490062 + Silent SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr9:34490062C>T ENST00000242317.4 + 6 612 c.441C>T c.(439-441)gaC>gaT p.D147D DNAI1_ENST00000488369.1_3'UTR NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 147 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) TCGAAGAAGACGAAGAGCCCA 0.488000 Kartagener syndrome 12 13 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652000 6 26 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080009 23080009 + Missense_Mutation SNP C C A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr16:23080009C>A ENST00000219689.7 - 16 3416 c.3417G>T c.(3415-3417)agG>agT p.R1139S USP31_ENST00000567975.1_Missense_Mutation_p.R432S NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1139 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGAAAGGGCTCCTTGTGGCAG 0.592000 27 41 2.4375e-19 2.4375e-19 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99452702 99452702 + Missense_Mutation SNP C C T TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr13:99452702C>T ENST00000376460.1 - 53 5878 c.5798G>A c.(5797-5799)cGc>cAc p.R1933H DOCK9_ENST00000339416.2_Missense_Mutation_p.R1920H NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1934 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GACAGGGATGCGCTTCTTCAC 0.522000 8 8 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44387289 44387289 + Missense_Mutation SNP G G A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr6:44387289G>A ENST00000371477.3 + 9 1495 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 399 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding p.R399Q(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACTCCACAGCGACAAGTTGTA 0.433000 25 45 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 475733 475734 + Frame_Shift_Ins INS - - A TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr5:475733_475734insA ENST00000264938.3 - 15 2202_2203 c.2193_2194insT c.(2191-2196)agggggfs p.R731fs CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Ins_p.R722fs|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 731 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TCGATCCCCCCACTCATCTCCT 0.629 2 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 4 7 --- --- --- --- SPIB 6689 broad.mit.edu 37 19 50931439 50931439 + Frame_Shift_Del DEL G G - TCGA-YL-A8SF-01A-11D-A377-08 TCGA-YL-A8SF-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1ffaa2-c4dc-463c-953f-f22025a0922a 9f08b1b0-9eae-4d97-9b23-360221f7428c g.chr19:50931439delG ENST00000595883.1 + 6 660 c.635delG c.(634-636)tgfs p.W212fs SPIB_ENST00000270632.7_3'UTR|SPIB_ENST00000596074.1_3'UTR|SPIB_ENST00000439922.2_Frame_Shift_Del_p.W121fs NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 212 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCGCGCCGCTGGGGCCAGCAG 0.672 2 4 --- --- --- ---