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 C1orf87 127795 broad.mit.edu 37 1 60456420 60456420 + Missense_Mutation SNP G G C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:60456420G>C ENST00000371201.3 - 12 1673 c.1566C>G c.(1564-1566)gaC>gaG p.D522E C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000486478.1_5'UTR NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 522 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCAAGGCCTGGTCGATTTTCT 0.488 50 158 --- --- --- --- KIAA1614 57710 broad.mit.edu 37 1 180885841 180885841 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:180885841C>T ENST00000367588.4 + 2 657 c.602C>T c.(601-603)cCg>cTg p.P201L NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 201 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GACAGAGGTCCGCTGCTGGGG 0.612 6 105 --- --- --- --- TATDN3 128387 broad.mit.edu 37 1 212985626 212985626 + Missense_Mutation SNP A A G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:212985626A>G ENST00000366974.4 + 9 731 c.637A>G c.(637-639)Ata>Gta p.I213V TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 213 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) TTTAACTTCTATATGCTTAGA 0.294 11 21 --- --- --- --- ETAA1 54465 broad.mit.edu 37 2 67632038 67632038 + Missense_Mutation SNP A A C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr2:67632038A>C ENST00000272342.5 + 5 2354 c.2224A>C c.(2224-2226)Atc>Ctc p.I742L ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 742 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 GTATTCTAAGATCTCAAACTG 0.348 4 32 --- --- --- --- SCN5A 6331 broad.mit.edu 37 3 38647629 38647629 + Missense_Mutation SNP G G T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr3:38647629G>T ENST00000413689.1 - 10 1344 c.1151C>A c.(1150-1152)tCc>tAc p.S384Y SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 384 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CTTCCCTGCGGACCTGAGGGT 0.572 7 33 --- --- --- --- STAG1 10274 broad.mit.edu 37 3 136221497 136221497 + Missense_Mutation SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr3:136221497C>G ENST00000383202.2 - 8 1057 c.801G>C c.(799-801)ttG>ttC p.L267F STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 267 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GTAGTAACTCCAACCTTTCAT 0.348 9 49 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90052835 90052835 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr5:90052835C>T ENST00000405460.2 + 57 11893 c.11797C>T c.(11797-11799)Ccc>Tcc p.P3933S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3933 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTGCCTCCACCCTTGAACGT 0.443 6 35 --- --- --- --- PCDHB1 29930 broad.mit.edu 37 5 140432441 140432441 + Silent SNP A A C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr5:140432441A>C ENST00000306549.3 + 1 1463 c.1386A>C c.(1384-1386)cgA>cgC p.R462R NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 462 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGACTGTTCGAGAAAACAACA 0.418 17 31 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79713461 79713461 + Missense_Mutation SNP T T C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr6:79713461T>C ENST00000275034.4 - 16 1806 c.1639A>G c.(1639-1641)Agc>Ggc p.S547G NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 547 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TCATATTTGCTACTGGACCCA 0.383 6 14 --- --- --- --- SEMA3E 9723 broad.mit.edu 37 7 83016314 83016314 + Missense_Mutation SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr7:83016314C>G ENST00000307792.3 - 15 2187 c.1720G>C c.(1720-1722)Gga>Cga p.G574R SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 574 axon guidance extracellular space|membrane receptor activity p.G574R(1) breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AACTGTTGTCCAAAGCACTGC 0.358 7 9 --- --- --- --- SPAM1 6677 broad.mit.edu 37 7 123594258 123594258 + Missense_Mutation SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr7:123594258C>A ENST00000340011.5 + 3 991 c.634C>A c.(634-636)Cca>Aca p.P212T SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T|SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 212 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATTACTTCGGCCAAATCACTT 0.378 4 26 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55542611 55542611 + Missense_Mutation SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr8:55542611C>G ENST00000220676.1 + 4 6317 c.6169C>G c.(6169-6171)Cag>Gag p.Q2057E NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 2057 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTCAGCGGTCAGACAAATGA 0.348 10 34 --- --- --- --- ZWINT 11130 broad.mit.edu 37 10 58118485 58118485 + Splice_Site SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:58118485C>A ENST00000373944.3 - 7 662 c.624G>T c.(622-624)agG>agT p.R208S ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000395405.1_Splice_Site_p.R208S|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Splice_Site_p.R88S O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 208 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 AGGTCTGATACCTACAAAGAG 0.517 15 25 --- --- --- --- IFIT2 3433 broad.mit.edu 37 10 91066539 91066539 + Missense_Mutation SNP T T A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:91066539T>A ENST00000371826.3 + 2 995 c.826T>A c.(826-828)Tac>Aac p.Y276N LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 276 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) GGCTTTAGAATACATACCAAA 0.418 12 45 --- --- --- --- C10orf118 55088 broad.mit.edu 37 10 115917401 115917401 + Missense_Mutation SNP A A G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:115917401A>G ENST00000369287.3 - 3 937 c.671T>C c.(670-672)gTa>gCa p.V224A NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 224 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) ACAAATGTCTACGAAGAGCTC 0.284 7 10 --- --- --- --- C11orf57 55216 broad.mit.edu 37 11 111948994 111948994 + Missense_Mutation SNP A A G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr11:111948994A>G ENST00000532163.1 + 3 804 c.38A>G c.(37-39)gAt>gGt p.D13G C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 42 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) CAGATGGAAGATGCTTACCGG 0.338 6 16 --- --- --- --- PSMC6 5706 broad.mit.edu 37 14 53173992 53173992 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr14:53173992C>T ENST00000445930.2 + 1 103 c.97C>T c.(97-99)Cac>Tac p.H33Y PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 19 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 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 cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) GTTGCTTGAACACAAGGAGAT 0.532 16 29 --- --- --- --- PLA2G4F 255189 broad.mit.edu 37 15 42439840 42439840 + Missense_Mutation SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr15:42439840C>T ENST00000397272.3 - 12 1277 c.1186G>A c.(1186-1188)Gtc>Atc p.V396I PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 394 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GACCCAGAGACCCCACTCAGG 0.602 8 188 --- --- --- --- DUOX1 53905 broad.mit.edu 37 15 45433155 45433155 + Silent SNP G G A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr15:45433155G>A ENST00000321429.4 + 14 1859 c.1452G>A c.(1450-1452)ggG>ggA p.G484G DUOX1_ENST00000389037.3_Silent_p.G484G|DUOX1_ENST00000561166.1_Silent_p.G130G NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 484 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TGCTCCCTGGGGGACTCCTGG 0.572 33 50 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72244228 72244228 + Missense_Mutation SNP T T C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr15:72244228T>C ENST00000356056.5 - 15 2664 c.2192A>G c.(2191-2193)gAt>gGt p.D731G MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000563542.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 731 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGCGCTGTATCATCATGTCC 0.378 20 37 --- --- --- --- PDPR 55066 broad.mit.edu 37 16 70162938 70162938 + Missense_Mutation SNP C C A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr16:70162938C>A ENST00000288050.4 + 6 1477 c.520C>A c.(520-522)Ctg>Atg p.L174M PDPR_ENST00000398122.3_Missense_Mutation_p.L74M|PDPR_ENST00000568530.1_Missense_Mutation_p.L174M NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 174 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CGTGCACGACCTGGTGGGGGC 0.552 37 241 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11687706 11687706 + Silent SNP C C T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr17:11687706C>T ENST00000262442.4 + 41 7979 c.7911C>T c.(7909-7911)ctC>ctT p.L2637L DNAH9_ENST00000454412.2_Silent_p.L2637L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L2637L(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATCTGAAGCTCGGAAACTTCC 0.557 7 140 --- --- --- --- CXADRP3 440224 broad.mit.edu 37 18 14478680 14478680 + RNA SNP C C G TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr18:14478680C>G ENST00000581457.1 - 0 1228 NR_024076.1 CAGATATAAACAGATGAAGTC 0.413 8 10 --- --- --- --- SMOX 54498 broad.mit.edu 37 20 4155731 4155731 + Missense_Mutation SNP G G T TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr20:4155731G>T ENST00000305958.4 + 2 254 c.29G>T c.(28-30)aGt>aTt p.S10I SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 10 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) AGTGGTGACAGTGCGGATGAC 0.607 38 134 --- --- --- --- GRPR 2925 broad.mit.edu 37 X 16142274 16142274 + Silent SNP T T C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chrX:16142274T>C ENST00000380289.2 + 1 596 c.198T>C c.(196-198)tgT>tgC p.C66C NM_005314.2 NP_005305.1 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 66 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) AGATCTTCTGTACAGTCAAGT 0.493 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 57 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70462164 70462164 + Missense_Mutation SNP A A C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chrX:70462164A>C ENST00000373998.1 - 23 4319 c.3622T>G c.(3622-3624)Ttt>Gtt p.F1208V ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000489332.1_5'UTR NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1220 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TGCAGCCCAAAAAACTTAGTG 0.562 11 6 --- --- --- --- KLHL4 56062 broad.mit.edu 37 X 86919798 86919798 + Missense_Mutation SNP G G C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chrX:86919798G>C ENST00000373119.4 + 10 2105 c.1960G>C c.(1960-1962)Gca>Cca p.A654P KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 654 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GTCAACTGTGGCACCTCTGAG 0.418 10 7 --- --- --- --- UBQLN4 56893 broad.mit.edu 37 1 156011291 156011292 + Frame_Shift_Ins INS - - A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr1:156011291_156011292insA ENST00000368309.3 - 10 1729_1730 c.1637_1638insT c.(1636-1638)ggafs p.G546fs NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 546 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) AGTTTCCACTTCCAGCCAAAAG 0.569 12 29 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89711886 89711887 + Frame_Shift_Ins INS - - C TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr10:89711886_89711887insC ENST00000371953.3 + 6 1861_1862 c.504_505insC c.(505-507)cccfs p.P169fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 169 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GAGTAACTATTCCCAGTCAGAG 0.361 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 13 20 --- --- --- --- OASL 8638 broad.mit.edu 37 12 121476763 121476764 + Frame_Shift_Ins INS - - A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f61d1174-470f-4318-9bd9-defe72f8afd2 8329fc61-dda7-4b68-8988-2f6c1214cc2c g.chr12:121476763_121476764insA ENST00000257570.5 - 1 281_282 c.11_12insT c.(10-12)atgfs p.M4fs OASL_ENST00000339275.5_Frame_Shift_Ins_p.M4fs NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 4 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACAGTTCCTGCATCAGTGCCAT 0.589 11 28 --- --- --- ---