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 VPS13B 157680 broad.mit.edu 37 8 100832176 100832176 + Silent SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr8:100832176C>T ENST00000358544.2 + 49 9006 c.8895C>T c.(8893-8895)agC>agT p.S2965S VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S2940S NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2965 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTGGGATAGCCCAATGCGAG 0.393000 19 48 0 0 0.043863 0 0 OR2D3 120775 broad.mit.edu 37 11 6942667 6942667 + Silent SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr11:6942667C>T ENST00000317834.3 + 1 463 c.435C>T c.(433-435)ccC>ccT p.P145P NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCTGCAAGCCCCTGTACTACT 0.512000 17 80 0 0 0.038395 0 0 DMXL1 1657 broad.mit.edu 37 5 118506950 118506950 + Missense_Mutation SNP T T G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr5:118506950T>G ENST00000311085.8 + 24 6544 c.6464T>G c.(6463-6465)aTt>aGt p.I2155S DMXL1_ENST00000539542.1_Missense_Mutation_p.I2155S NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2155 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ATGGAATTGATTTTGCTTTTG 0.353000 4 33 0 0 0.009096 0 0 DNAJC17 55192 broad.mit.edu 37 15 41071505 41071505 + Missense_Mutation SNP C C A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr15:41071505C>A ENST00000220496.4 - 4 241 c.211G>T c.(211-213)Gca>Tca p.A71S NM_018163.2 NP_060633.1 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 71 J. protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TTGTCATATGCAGCCTGGCAG 0.542000 7 60 0.00307968 0.00372426 0.038147 1 0 HIST1H2AH 85235 broad.mit.edu 37 6 27114964 27114964 + Silent SNP T T G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr6:27114964T>G ENST00000377459.1 + 1 104 c.57T>G c.(55-57)tcT>tcG p.S19S NM_080596.1 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1, H2ah 19 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1) 12 AGACCCGCTCTTCTCGGGCTG 0.622000 8 70 0 0 0.038147 0 0 PCDHA3 0 broad.mit.edu 37 5 140181292 140181292 + Silent SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr5:140181292C>T ENST00000522353.2 + 1 510 c.510C>T c.(508-510)taC>taT p.Y170Y PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y170Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTGACTTACAGTCTTGATT 0.393000 6 68 0 0 0.021553 0 0 CSAG4 0 broad.mit.edu 37 X 151896244 151896244 + RNA SNP A A C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chrX:151896244A>C ENST00000361201.4 - 0 486 NR_073432.1 endometrium(2)|kidney(2)|lung(1) 5 GTGTTGGCCCACTCCATTCCT 0.522000 7 36 0 0 0.038147 0 0 LUZP1 7798 broad.mit.edu 37 1 23418878 23418878 + Missense_Mutation SNP C C A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr1:23418878C>A ENST00000302291.4 - 4 2678 c.1877G>T c.(1876-1878)gGg>gTg p.G626V LUZP1_ENST00000418342.1_Missense_Mutation_p.G626V|LUZP1_ENST00000374623.3_Missense_Mutation_p.G626V|LUZP1_ENST00000314174.5_Missense_Mutation_p.G626V Q86V48 LUZP1_HUMAN leucine zipper protein 1 626 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTGATTAACCCCTTCTTTATG 0.473000 4 149 3.59834e-05 4.45508e-05 0.021553 1 0 BAI1 575 broad.mit.edu 37 8 143623678 143623678 + Silent SNP G G A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr8:143623678G>A ENST00000517894.1 + 28 4977 c.4083G>A c.(4081-4083)gaG>gaA p.E1361E BAI1_ENST00000323289.5_Silent_p.E1361E O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1361 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AGCCCAAGGAGGAGCCCAAGT 0.697000 4 30 0 0 0.009096 0 0 OXR1 55074 broad.mit.edu 37 8 107722934 107722934 + Missense_Mutation SNP T T C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr8:107722934T>C ENST00000445937.1 + 10 1970 c.1709T>C c.(1708-1710)tTt>tCt p.F570S OXR1_ENST00000452423.2_Missense_Mutation_p.F60S|OXR1_ENST00000312046.6_Missense_Mutation_p.F563S|OXR1_ENST00000531443.1_Missense_Mutation_p.F570S|OXR1_ENST00000517566.2_Missense_Mutation_p.F570S|OXR1_ENST00000442977.2_Missense_Mutation_p.F571S NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 571 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AGGAAAACGTTTGTATCTCAA 0.378000 5 40 0 0 0.014758 0 0 CHRM5 0 broad.mit.edu 37 15 34355791 34355791 + Silent SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr15:34355791C>T ENST00000383263.5 + 3 1543 c.873C>T c.(871-873)agC>agT p.S291S CHRM5_ENST00000557872.1_Silent_p.S291S NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 291 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CTGGCCCAAGCGCCAATTGGG 0.632000 6 65 0 0 0.029380 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280056 39280056 + Missense_Mutation SNP G G C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr17:39280056G>C ENST00000394014.1 - 1 363 c.319C>G c.(319-321)Cag>Gag p.Q107E NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 107 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. Missing (in allele KAP4.12-v1). keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGGTGGTCTGACAGCAGCTG 0.677000 9 71 0 0 0.047766 0 0 PCSK6 5046 broad.mit.edu 37 15 101972253 101972253 + Missense_Mutation SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr15:101972253C>T ENST00000348070.1 - 4 451 c.452G>A c.(451-453)cGa>cAa p.R151Q PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000358417.3_Missense_Mutation_p.R151Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R151Q NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 152 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity p.R151Q(2) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CGGGTCACTTCGCACCTGTCT 0.483000 3 14 0 0 0.115264 0 0 TRPS1 7227 broad.mit.edu 37 8 116599646 116599646 + Missense_Mutation SNP T T C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr8:116599646T>C ENST00000395715.3 - 5 2859 c.2282A>G c.(2281-2283)aAt>aGt p.N761S TRPS1_ENST00000519674.1_Missense_Mutation_p.N748S|TRPS1_ENST00000220888.5_Missense_Mutation_p.N748S|TRPS1_ENST00000520276.1_Missense_Mutation_p.N752S|TRPS1_ENST00000519076.1_Missense_Mutation_p.N502S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 748 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGTTAGCAGATTGTAGACCCT 0.498000 Langer-Giedion syndrome 8 162 0 0 0.047766 0 0 SIX5 147912 broad.mit.edu 37 19 46270388 46270388 + Missense_Mutation SNP C C G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr19:46270388C>G ENST00000317578.6 - 2 1210 c.829G>C c.(829-831)Gag>Cag p.E277Q SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA NM_175875.4 NP_787071.2 Q8N196 SIX5_HUMAN SIX homeobox 5 277 cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity p.E277Q(1) endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) GACTCGTCCTCAGTCGTGGGA 0.677000 5 8 0 0 0.021553 0 0 DNMT3A 1788 broad.mit.edu 37 2 25469564 25469564 + Nonsense_Mutation SNP G G A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr2:25469564G>A ENST00000264709.3 - 10 1541 c.1204C>T c.(1204-1206)Cag>Tag p.Q402* DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q179*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q213*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q402* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 402 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCTTGTTCTGCACCTCCACG 0.637000 """Mis, F, N, S""" AML 5 102 0 0 0.014758 0 0 MMRN2 79812 broad.mit.edu 37 10 88704974 88704974 + Missense_Mutation SNP G G T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr10:88704974G>T ENST00000372027.4 - 4 525 c.452C>A c.(451-453)cCt>cAt p.P151H NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 151 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TCCATCCTGAGGTTCCTGGTG 0.562000 4 34 3.59834e-05 4.45508e-05 0.021553 1 0 TBL2 26608 broad.mit.edu 37 7 72985120 72985120 + Missense_Mutation SNP A A C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr7:72985120A>C ENST00000305632.5 - 7 1302 c.1061T>G c.(1060-1062)aTt>aGt p.I354S TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.I318S NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 354 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) GTAGAGATGAATACTACTGCC 0.622000 15 83 0 0 0.146539 0 0 AJAP1 55966 broad.mit.edu 37 1 4832584 4832584 + Splice_Site SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr1:4832584C>T ENST00000378191.4 + 4 1543 c.1163_splice c.e4+1 p.R388_splice AJAP1_ENST00000378190.3_Splice_Site_p.R388_splice NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 388 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TAATGGAAACCGGTAAGCTCG 0.592000 4 26 0 0 0.009096 0 0 KIAA0232 9778 broad.mit.edu 37 4 6826286 6826286 + Missense_Mutation SNP T T G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr4:6826286T>G ENST00000307659.5 + 3 561 c.106T>G c.(106-108)Ttg>Gtg p.L36V KIAA0232_ENST00000425103.1_Missense_Mutation_p.L36V NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 36 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 GCTTCATGCTTTGGGTCCAGT 0.488000 4 101 0 0 0.009096 0 0 POLR3D 661 broad.mit.edu 37 8 22107993 22107993 + Missense_Mutation SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr8:22107993C>T ENST00000397802.4 + 8 1374 c.1159C>T c.(1159-1161)Cct>Tct p.P387S POLR3D_ENST00000306433.4_Missense_Mutation_p.P387S P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 387 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TGTATGTTCCCCTGATTTTGA 0.547000 5 83 0 0 0.014758 0 0 FAN1 22909 broad.mit.edu 37 15 31202968 31202968 + Silent SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr15:31202968C>T ENST00000362065.4 + 4 1818 c.1527C>T c.(1525-1527)gtC>gtT p.V509V FAN1_ENST00000561607.1_Silent_p.V509V|FAN1_ENST00000565466.1_Silent_p.V509V|FAN1_ENST00000561594.1_Silent_p.V509V NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 509 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 AGCGTTCAGTCTGCACTTGGG 0.418000 Direct reversal of damage 9 32 0 0 0.047766 0 0 HOMER1 9456 broad.mit.edu 37 5 78752789 78752789 + Missense_Mutation SNP T T A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr5:78752789T>A ENST00000334082.6 - 2 1500 c.58A>T c.(58-60)Aca>Tca p.T20S HOMER1_ENST00000282260.6_Missense_Mutation_p.T20S|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.T20S NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 20 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) TTCTTCTTTGTGTTTGGGTCA 0.423000 4 118 0 0 0.014758 0 0 OR56A1 120796 broad.mit.edu 37 11 6048624 6048624 + Missense_Mutation SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr11:6048624C>T ENST00000316650.5 - 1 347 c.311G>A c.(310-312)tGc>tAc p.C104Y NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGAGGAAGCAGGCAGGGAA 0.552000 4 53 0 0 0.009096 0 0 PCDHGA12 0 broad.mit.edu 37 5 140812302 140812302 + Missense_Mutation SNP C C G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr5:140812302C>G ENST00000252085.3 + 1 2118 c.1976C>G c.(1975-1977)aCg>aGg p.T659R PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACTGTCACGCTCACCGTG 0.667000 13 104 0 0 0.093190 0 0 TMF1 7110 broad.mit.edu 37 3 69088082 69088082 + Missense_Mutation SNP C C G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr3:69088082C>G ENST00000543976.1 - 7 2161 c.1915G>C c.(1915-1917)Gag>Cag p.E639Q CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.E636Q|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 636 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) AGATCTTTCTCTTGGCGTTCT 0.373000 4 40 0 0 0.009096 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 5 33 0 0 0.038147 0 0 HIST3H2A 92815 broad.mit.edu 37 1 228645400 228645400 + Missense_Mutation SNP T T C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr1:228645400T>C ENST00000366695.2 - 1 160 c.119A>G c.(118-120)tAt>tGt p.Y40C NM_033445.2 NP_254280.1 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 40 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|lung(3)|ovary(1) 5 Prostate(94;0.183) GCGCTCCGAATAGTTGCCCTT 0.721000 3 20 0 0 0.115264 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172402 47172402 + Missense_Mutation SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr12:47172402C>T ENST00000447411.1 - 10 1081 c.875G>A c.(874-876)cGc>cAc p.R292H SLC38A4_ENST00000266579.4_Missense_Mutation_p.R292H NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 292 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.R292H(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TGCAGGATTGCGGTGGGTGTA 0.458000 7 72 0 0 0.029380 0 0 CPSF6 11052 broad.mit.edu 37 12 69651614 69651614 + Missense_Mutation SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr12:69651614C>T ENST00000435070.2 + 5 733 c.623C>T c.(622-624)cCa>cTa p.P208L CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P208L NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 208 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) GGCCGTTTTCCAGGGGCTGTT 0.542000 14 101 0 0 0.119110 0 0 DLC1 10395 broad.mit.edu 37 8 12956022 12956022 + Missense_Mutation SNP A A G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr8:12956022A>G ENST00000276297.4 - 10 3462 c.3053T>C c.(3052-3054)cTa>cCa p.L1018P DLC1_ENST00000520226.1_Missense_Mutation_p.L507P|DLC1_ENST00000358919.2_Missense_Mutation_p.L581P|DLC1_ENST00000512044.2_Missense_Mutation_p.L615P NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1018 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GTTAATCTGTAGTGATACAGA 0.502000 4 53 0 0 0.009096 0 0 HAS1 3036 broad.mit.edu 37 19 52217155 52217155 + Missense_Mutation SNP C C T TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr19:52217155C>T ENST00000540069.2 - 5 1319 c.1259G>A c.(1258-1260)cGt>cAt p.R420H HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000601714.1_Missense_Mutation_p.R428H|HAS1_ENST00000222115.1_Missense_Mutation_p.R421H Q92839 HAS1_HUMAN hyaluronan synthase 1 421 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTAGAACAGACGCAGCACAGT 0.701000 13 15 0 0 0.119110 0 0 CIDEA 1149 broad.mit.edu 37 18 12274153 12274153 + Missense_Mutation SNP T T A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr18:12274153T>A ENST00000320477.9 + 4 457 c.392T>A c.(391-393)tTc>tAc p.F131Y CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 131 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 AGAGTCACCTTCGACTTGTAC 0.597000 11 65 0 0 0.080935 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102999693 102999693 + Missense_Mutation SNP A A G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr11:102999693A>G ENST00000375735.2 + 13 2056 c.1912A>G c.(1912-1914)Atg>Gtg p.M638V DYNC2H1_ENST00000334267.7_Missense_Mutation_p.M638V|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M638V NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 638 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCAGAGGCCAATGATGTTACA 0.259000 3 35 0 0 0.115264 0 0 FASTKD3 79072 broad.mit.edu 37 5 7868025 7868025 + Missense_Mutation SNP G G A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr5:7868025G>A ENST00000264669.5 - 2 308 c.172C>T c.(172-174)Cat>Tat p.H58Y FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 58 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGGCATGATGGAATTTGACC 0.433000 12 51 0 0 0.093190 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) 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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 28 46 0 0 0.144211 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 3 79 0 0 0.115264 0 0 UVSSA 57654 broad.mit.edu 37 4 1347109 1347109 + Nonsense_Mutation SNP C C G TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr4:1347109C>G ENST00000389851.4 + 5 1289 c.842C>G c.(841-843)tCa>tGa p.S281* UVSSA_ENST00000511216.1_Nonsense_Mutation_p.S281*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.S281* NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 281 GGTGACCCCTCAGATGAGGAC 0.662000 4 18 0 0 0.009096 0 0 CCM2L 140706 broad.mit.edu 37 20 30602787 30602787 + Silent SNP G G A TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr20:30602787G>A ENST00000300415.8 + 2 124 c.111G>A c.(109-111)cgG>cgA p.R37R CCM2L_ENST00000262659.8_Silent_p.R37R cerebral cavernous malformation 2-like TGAGCCGCCGGCCCCTGCACT 0.632000 5 80 0 0 0.021553 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916938 178916940 + In_Frame_Del DEL GAA GAA - TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr3:178916938_178916940delGAA ENST00000263967.3 + 2 482_484 c.325_327delGAA c.(325-327)del p.E110del NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 110 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E109del(3)|p.G106_R108del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGGCAACCGTGAAGAAAAGATCC 0.340 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 68 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 4 7 --- --- --- --- HMGB1 3146 broad.mit.edu 37 13 31037690 31037690 + Frame_Shift_Del DEL T T - TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr13:31037690delT ENST00000405805.1 - 2 1068 c.128delA c.(127-129)agfs p.K44fs HMGB1_ENST00000399494.1_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000399489.1_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000339872.4_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000341423.5_Frame_Shift_Del_p.K44fs|HMGB1_ENST00000326004.4_Frame_Shift_Del_p.K44fs P09429 HMGB1_HUMAN high mobility group box 1 44 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) TGAGCACTTCTTAGAAAACTC 0.403 12 116 --- --- --- --- TBC1D2B 23102 broad.mit.edu 37 15 78316614 78316614 + Frame_Shift_Del DEL C C - TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr15:78316614delC ENST00000409931.3 - 6 1425 c.1354delG c.(1354-1356)agfs p.E452fs TBC1D2B_ENST00000300584.3_Frame_Shift_Del_p.E452fs Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 452 intracellular protein binding|Rab GTPase activator activity p.E452K(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 ATGATGACCTCGTCCTTGGCT 0.612 7 49 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99467892 99467894 + In_Frame_Del DEL TTC TTC - rs45461797 byFrequency TCGA-EL-A3CR-01A-12D-A202-08 TCGA-EL-A3CR-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1389f11b-6b68-4227-990a-5e6fcf476ebb 3381e87b-fd31-4d66-b6f9-cc7627de79b5 g.chr15:99467892_99467894delTTC ENST00000268035.6 + 13 3372_3374 c.2761_2763delTTC c.(2761-2763)del p.F922del IGF1R_ENST00000558762.1_In_Frame_Del_p.F922del NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 922 Fibronectin type-III 3. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) AGATCCTGTGTTCTTCTATGTCC 0.542 10 49 --- --- --- ---