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 MYO3A 53904 broad.mit.edu 37 10 26465766 26465766 + Missense_Mutation SNP G G T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr10:26465766G>T ENST00000265944.5 + 31 4596 c.4430G>T c.(4429-4431)tGc>tTc p.C1477F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1477 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TCTCAGCAGTGCCTCTCAGGT 0.373000 4 58 0.000602214 0.000620191 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 5 30 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804618 27804618 + Missense_Mutation SNP C C A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr2:27804618C>A ENST00000408964.2 + 1 5230 c.5179C>A c.(5179-5181)Cgc>Agc p.R1727S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1727 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GAGGAGCCATCGCAGTCCCTC 0.562000 9 276 1.12685e-05 1.1962e-05 1 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216043 20216043 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr14:20216043G>A ENST00000331723.1 + 1 457 c.457G>A c.(457-459)Ggt>Agt p.G153S NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGTGTGGGGGTTTTATCCA 0.498000 10 39 0 0 1 0 0 RP11-85G18.6 0 broad.mit.edu 37 10 27535600 27535600 + RNA SNP T T C rs640284 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr10:27535600T>C ENST00000574842.1 + 0 255 CACAGGTCAATTGCACATGGG 0.517000 5 144 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 30002225 30002225 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr16:30002225G>A ENST00000279394.3 + 18 2969 c.2566G>A c.(2566-2568)Gag>Aag p.E856K NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 737 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GAGCCAGCACGAGAGGGAGCT 0.662000 6 96 0 0 1 0 0 PLEKHS1 79949 broad.mit.edu 37 10 115540411 115540411 + Silent SNP T T C rs11196483 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr10:115540411T>C ENST00000354462.3 + 6 626 c.468T>C c.(466-468)gcT>gcC p.A156A PLEKHS1_ENST00000369312.4_Silent_p.A324A|PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369309.1_Silent_p.A240A pleckstrin homology domain containing, family S member 1 CATTCCATGCTGCATCCTGTA 0.418000 4 41 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 47 3.59834e-05 3.7619e-05 1 1 0 SLC30A4 7782 broad.mit.edu 37 15 45777429 45777429 + Missense_Mutation SNP T T C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr15:45777429T>C ENST00000261867.4 - 8 1536 c.1222A>G c.(1222-1224)Att>Gtt p.I408V RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 408 regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TGAAGCTGAATAGTACATCTA 0.378000 3 34 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1654058 1654058 + Translation_Start_Site SNP C C T rs61777495 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:1654058C>T ENST00000356200.3 - 0 212 CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AAGAACTTCACCGAAGAAGCG 0.338000 3 36 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40750961 40750961 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr15:40750961C>T ENST00000561234.1 + 2 557 c.298C>T c.(298-300)Ccc>Tcc p.P100S BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 100 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GCCCAAGCCCCCCAGCCCGGC 0.657000 9 73 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13695683 13695683 + Silent SNP T T C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr20:13695683T>C ENST00000202816.1 - 14 2501 c.2394A>G c.(2392-2394)gaA>gaG p.E798E NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 798 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 GTTCTTTCCGTTCTCTTTGCC 0.398000 29 121 0 0 1 0 0 NEGR1 257194 broad.mit.edu 37 1 72241872 72241872 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:72241872C>T ENST00000357731.4 - 3 757 c.518G>A c.(517-519)cGa>cAa p.R173Q NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q|NEGR1_ENST00000467479.1_5'UTR NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 173 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GGAGATGTGTCGCCAAGAAAT 0.418000 3 38 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594407 148594407 + Missense_Mutation SNP G G A rs144416833 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:148594407G>A ENST00000442702.2 + 21 2847 c.1780G>A c.(1780-1782)Gtg>Atg p.V594M NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 594 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) GCTCTACGGCGTGCTGATGGA 0.458000 13 286 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453145 140453145 + Missense_Mutation SNP A A C rs121913368 TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr7:140453145A>C ENST00000288602.6 - 15 1850 c.1790T>G c.(1789-1791)cTa>cGa p.L597R NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 597 Protein kinase. L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.L597R(14)|p.L597S(9)|p.L597Q(8) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CACTGTAGCTAGACCAAAATC 0.383000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 5 92 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) 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) TGGCAGCACATAGACTGGCAG 0.662000 4 27 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104934014 104934014 + Splice_Site SNP T T A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr8:104934014T>A ENST00000507740.1 + 8 1856 c.e8+2 RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAACTTTCAGTATGTAGTCAT 0.338000 HNSCC(12;0.0054) 7 47 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128599589 128599589 + Missense_Mutation SNP C C G TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chrX:128599589C>G ENST00000371122.4 - 23 3067 c.2938G>C c.(2938-2940)Gat>Cat p.D980H SMARCA1_ENST00000371121.3_Missense_Mutation_p.D968H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D968H NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 980 SANT 2. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTTTCTCTATCAAAGCCCATT 0.363000 22 31 0 0 1 0 0 P2RY4 5030 broad.mit.edu 37 X 69478626 69478626 + Missense_Mutation SNP A A C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chrX:69478626A>C ENST00000374519.2 - 1 1028 c.849T>G c.(847-849)atT>atG p.I283M NM_002565.3 NP_002556.1 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 4 283 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled cervix(2)|endometrium(2)|large_intestine(8)|lung(6) 18 CCACGTTGACAATGTTCAGTA 0.542000 3 17 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82833276 82833276 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr5:82833276C>T ENST00000265077.3 + 8 5019 c.4454C>T c.(4453-4455)aCt>aTt p.T1485I VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1485 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAGCCTGAGACTTACCCTGAA 0.423000 4 68 0 0 1 0 0 IFI16 3428 broad.mit.edu 37 1 158984677 158984677 + Silent SNP C C T rs144369567 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:158984677C>T ENST00000295809.7 + 2 462 c.207C>T c.(205-207)ttC>ttT p.F69F IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 69 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TAAAAATTTTCGAAGATATAC 0.388000 18 74 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130416523 130416523 + Missense_Mutation SNP T T G rs6637826 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chrX:130416523T>G ENST00000370904.1 - 13 2024 c.1114A>C c.(1114-1116)Aat>Cat p.N372H IGSF1_ENST00000361420.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372H|IGSF1_ENST00000370903.3_Missense_Mutation_p.N381H Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 381 Ig-like C2-type 4. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TAGGTTACATTGTTGAGGAAG 0.448000 4 75 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 3 11 0.004672 0.00474071 1 1 0 TP53INP1 0 broad.mit.edu 37 8 95952351 95952351 + Silent SNP C C T rs141483665 TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr8:95952351C>T ENST00000342697.4 - 3 617 c.210G>A c.(208-210)ccG>ccA p.P70P TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.P70P NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 70 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) CAAGAGATGCCGGTAAACAGG 0.473000 3 33 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310629 178310629 + Silent SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr5:178310629C>T ENST00000322434.3 + 5 1402 c.1176C>T c.(1174-1176)agC>agT p.S392S NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCCTTCAGCCAGAGTGCCT 0.423000 4 70 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 3 40 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18119525 18119525 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr19:18119525G>A ENST00000222250.4 + 2 423 c.280G>A c.(280-282)Ggg>Agg p.G94R ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.G89R NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 94 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 TGCAGATACCGGGGAGACCAC 0.647000 22 110 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 5 89 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161027631 161027631 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr6:161027631G>A ENST00000447678.1 - 18 2783 c.2663C>T c.(2662-2664)aCg>aTg p.T888M LPA_ENST00000316300.5_Missense_Mutation_p.T888M NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3396 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GGGATCCCTCGTATAACAATA 0.522000 45 182 0 0 1 0 0 PCDHA10 0 broad.mit.edu 37 5 140237387 140237387 + Missense_Mutation SNP T T G rs251364 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr5:140237387T>G ENST00000307360.5 + 1 1754 c.1754T>G c.(1753-1755)gTt>gGt p.V585G PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTCGGTGGTTGCGGGTCAC 0.662000 5 41 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr22:42538870A>C ENST00000424775.1 - 0 440 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 32 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 49 0 0 1 0 0 SETDB2 83852 broad.mit.edu 37 13 50051103 50051103 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr13:50051103G>A ENST00000354234.4 + 6 1703 c.797G>A c.(796-798)cGa>cAa p.R266Q SETDB2_ENST00000317257.8_Missense_Mutation_p.R278Q|SETDB2_ENST00000258672.5_Missense_Mutation_p.R266Q NM_001160308.1 NP_001153780.1 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 278 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding p.R278Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) GTGTGGCCTCGAGCATATAAT 0.408000 4 79 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24848254 24848254 + Splice_Site SNP A A C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr6:24848254A>C ENST00000259698.4 - 12 1251 c.1077_splice c.e12+1 p.F359_splice FAM65B_ENST00000510784.2_Splice_Site_p.F393_splice|FAM65B_ENST00000538035.1_Splice_Site_p.F388_splice|FAM65B_ENST00000378023.4_Splice_Site_p.F359_splice|FAM65B_ENST00000540914.1_Splice_Site_p.F359_splice NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 359 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TGAACTTACAAAGAAGGAGTG 0.507000 16 44 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101183330 101183330 + RNA SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr7:101183330G>A ENST00000313669.7 + 0 796 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 GGGCCCAGCCGGTGAGTGAGG 0.662000 3 39 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25430654 25430654 + RNA SNP G G A rs72546347 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr15:25430654G>A ENST00000424208.1 + 0 515 NR_003305.1 TGCCAGCCACGTGCTCAGCCT 0.587000 4 47 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 5 49 0 0 1 0 0 KLHL36 79786 broad.mit.edu 37 16 84695401 84695401 + Missense_Mutation SNP A A G rs149485033 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr16:84695401A>G ENST00000564996.1 + 5 1654 c.1513A>G c.(1513-1515)Atc>Gtc p.I505V KLHL36_ENST00000258157.5_Missense_Mutation_p.I442V NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 505 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CGATGACAACATCGAGTCCAT 0.682000 3 37 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31238023 31238023 + Missense_Mutation SNP G G A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr12:31238023G>A ENST00000251758.5 + 5 852 c.601G>A c.(601-603)Gaa>Aaa p.E201K DDX11_ENST00000545668.1_Missense_Mutation_p.E201K|DDX11_ENST00000350437.4_Missense_Mutation_p.E201K|DDX11_ENST00000542838.1_Missense_Mutation_p.E201K|DDX11_ENST00000407793.2_Missense_Mutation_p.E201K|DDX11_ENST00000228264.6_Missense_Mutation_p.E175K Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 201 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGTCCTCGCCGAATACGAGAG 0.617000 Multiple Myeloma(12;0.14) 4 12 0 0 1 0 0 PDHX 8050 broad.mit.edu 37 11 34991708 34991708 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr11:34991708C>T ENST00000448838.3 + 7 1036 c.794C>T c.(793-795)gCc>gTc p.A265V PDHX_ENST00000430469.2_Intron|PDHX_ENST00000227868.4_Missense_Mutation_p.A280V NM_001135024.1|NM_003477.2 NP_001128496.1|NP_003468.2 O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X 280 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) GAAATCCCCGCCAGCAATATT 0.383000 12 44 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21239844 21239844 + Missense_Mutation SNP T T C TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr19:21239844T>C ENST00000261560.5 + 5 911 c.730T>C c.(730-732)Tgg>Cgg p.W244R NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 AGTCTTTAACTGGTTCTCAAC 0.363000 10 37 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 5 27 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32481467 32481467 + Missense_Mutation SNP C C T TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr12:32481467C>T ENST00000548411.1 + 5 2259 c.2078C>T c.(2077-2079)gCg>gTg p.A693V BICD1_ENST00000281474.5_Missense_Mutation_p.A693V NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 693 Interacts with RAB6A. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) ACATTGAGGGCGGTGTTGAAA 0.443000 14 76 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110146052 110146052 + Missense_Mutation SNP T T A TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr1:110146052T>A ENST00000351050.3 - 8 1175 c.989A>T c.(988-990)cAg>cTg p.Q330L NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 330 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTTGACATTCTGTGTATCTGT 0.403000 4 61 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93834 93835 + Frame_Shift_Del DEL TG TG - TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr10:93834_93835delTG ENST00000447903.2 - 4 596_597 c.281_282delCA c.(280-282)afs p.T94fs TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 166 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GGATGCTGAATGTGTTTATGAT 0.584 8 199 --- --- --- --- POC1B-GALNT4 0 broad.mit.edu 37 12 89919725 89919725 + Frame_Shift_Del DEL A A - TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ef4b8185-9003-4a49-ab6c-84a5c0037837 85328a4c-38dc-48a7-8eed-1b4b4ad9e060 g.chr12:89919725delA ENST00000413530.1 - 1 314 c.208delT c.(208-210)ccfs p.S70fs POC1B_ENST00000313546.3_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B-GALNT4_ENST00000548729.1_5'UTR|POC1B-GALNT4_ENST00000547474.1_5'UTR|RP11-734K2.4_ENST00000605233.1_RNA Cggagaggggaggggagagga 0.706 2 4 --- --- --- ---