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 WDR16 146845 broad.mit.edu 37 17 9515650 9515650 + Missense_Mutation SNP C C G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:9515650C>G ENST00000352665.5 + 8 948 c.879C>G c.(877-879)atC>atG p.I293M WDR16_ENST00000396219.3_Missense_Mutation_p.I225M|WDR16_ENST00000299764.5_Missense_Mutation_p.I303M NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 293 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 AAGGCGGCATCACTTCTATCA 0.433000 19 46 0 0 8.00594e-06 0 0 ABCA5 23461 broad.mit.edu 37 17 67251966 67251966 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:67251966A>G ENST00000392676.3 - 30 3948 c.3884T>C c.(3883-3885)tTg>tCg p.L1295S ABCA5_ENST00000392677.2_Missense_Mutation_p.L1296S|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1295S Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1295 ABC transporter 2. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TTCTTTATGCAAATTGCTGAC 0.294000 19 54 0 0 8.00594e-06 0 0 FAT4 79633 broad.mit.edu 37 4 126371456 126371456 + Silent SNP T T C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:126371456T>C ENST00000394329.3 + 9 9298 c.9285T>C c.(9283-9285)agT>agC p.S3095S FAT4_ENST00000335110.5_Silent_p.S1393S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3095 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCCACATGAGTGCAACCATCC 0.443000 18 38 0 0 1.15919e-05 0 0 ALDOC 230 broad.mit.edu 37 17 26901545 26901545 + Silent SNP G G A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:26901545G>A ENST00000226253.4 - 6 1066 c.591C>T c.(589-591)caC>caT p.H197H ALDOC_ENST00000395321.2_Silent_p.H197H|ALDOC_ENST00000395319.3_Intron NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 197 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) GTTTGAGGTCGTGGTCTCCAT 0.522000 47 90 0 0 2.47226e-05 0 0 TLL1 7092 broad.mit.edu 37 4 166916261 166916261 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:166916261A>G ENST00000061240.2 + 5 1210 c.563A>G c.(562-564)cAc>cGc p.H188R TLL1_ENST00000513213.1_Missense_Mutation_p.H188R|TLL1_ENST00000507499.1_Missense_Mutation_p.H188R NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 188 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGGGAAAAGCACACATGTGTG 0.443000 53 102 0 0 2.47226e-05 0 0 PARD3 56288 broad.mit.edu 37 10 34759192 34759192 + Splice_Site SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr10:34759192C>T ENST00000374789.3 - 4 729 c.e4-1 PARD3_ENST00000545260.1_Splice_Site|PARD3_ENST00000374776.1_Splice_Site|PARD3_ENST00000374790.3_Splice_Site|PARD3_ENST00000350537.4_Splice_Site|PARD3_ENST00000545693.1_Splice_Site|PARD3_ENST00000346874.4_Splice_Site|PARD3_ENST00000374788.3_Splice_Site|PARD3_ENST00000340077.5_Splice_Site|PARD3_ENST00000374773.1_Splice_Site|PARD3_ENST00000374794.3_Splice_Site NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) AGAGGCATATCTGTAAACACA 0.388000 27 68 0 0 2.90539e-05 0 0 C1orf106 55765 broad.mit.edu 37 1 200869294 200869294 + Silent SNP T T A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:200869294T>A ENST00000367342.4 + 4 698 c.498T>A c.(496-498)gtT>gtA p.V166V C1orf106_ENST00000413687.2_Silent_p.V81V NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 166 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCCCCAAGGTTCGCCGCAGGA 0.617000 15 18 0 0 7.07596e-05 0 0 RBM6 10180 broad.mit.edu 37 3 50106193 50106193 + Missense_Mutation SNP G G A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr3:50106193G>A ENST00000443081.1 + 18 3537 c.2618G>A c.(2617-2619)cGa>cAa p.R873Q RBM6_ENST00000422955.1_Missense_Mutation_p.R483Q|RBM6_ENST00000421682.1_5'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.R347Q|RBM6_ENST00000266022.4_Missense_Mutation_p.R1005Q|RBM6_ENST00000442092.1_Missense_Mutation_p.R483Q P78332 RBM6_HUMAN RNA binding motif protein 6 1005 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGGAGAGAACGAGAGGTAAAC 0.433000 13 35 0 0 3.45872e-05 0 0 SLC4A4 8671 broad.mit.edu 37 4 72420881 72420881 + Missense_Mutation SNP G G C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:72420881G>C ENST00000340595.3 + 18 2783 c.2587G>C c.(2587-2589)Ggt>Cgt p.G863R SLC4A4_ENST00000425175.1_Missense_Mutation_p.G907R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G823R|SLC4A4_ENST00000264485.5_Missense_Mutation_p.G907R NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 907 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGTACTCTATGGTGTGTTCCT 0.328000 6 309 0 0 2.0095e-06 0 0 PDS5B 23047 broad.mit.edu 37 13 33268438 33268438 + Silent SNP C C A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr13:33268438C>A ENST00000315596.10 + 14 1734 c.1548C>A c.(1546-1548)ccC>ccA p.P516P NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 516 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTAAGCAACCCAAAGTAAGTA 0.303000 7 190 5.18039e-06 0.00118263 5.18039e-06 1 0 PI4KA 5297 broad.mit.edu 37 22 21080785 21080785 + Silent SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr22:21080785C>T ENST00000255882.6 - 42 5072 c.4986G>A c.(4984-4986)agG>agA p.R1662R PI4KA_ENST00000572273.1_Silent_p.R1604R|PI4KA_ENST00000414196.3_Silent_p.R414R NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1604 Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity). phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CCTTGTCGTACCTGAGGGCCT 0.597000 11 50 0 0 6.40141e-05 0 0 ELK4 2005 broad.mit.edu 37 1 205588103 205588103 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:205588103A>G ENST00000357992.4 - 4 1518 c.1179T>C c.(1177-1179)ggT>ggC p.G393G NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GTGTGTTAGCACCTTGCAGTC 0.458000 T SLC45A3 prostate 12 40 0 0 1.49906e-05 0 0 SLC22A4 6583 broad.mit.edu 37 5 131670426 131670426 + Silent SNP G G T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr5:131670426G>T ENST00000200652.3 + 7 1236 c.1062G>T c.(1060-1062)gtG>gtT p.V354V AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 354 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TGACCTCAGTGGGTTACTTTG 0.403000 17 489 3.83957e-06 0.000890906 4.16121e-05 1 0 GCOM1 145781 broad.mit.edu 37 15 57913897 57913897 + Splice_Site SNP C C G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr15:57913897C>G ENST00000574161.1 + 4 529 c.411_splice c.e4+1 p.S137_splice POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000267853.5_Splice_Site_p.S137_splice|MYZAP_ENST00000380565.4_Splice_Site_p.S137_splice|GCOM1_ENST00000587652.1_Splice_Site_p.S137_splice|GCOM1_ENST00000572390.1_Splice_Site_p.S137_splice|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380568.3_Splice_Site_p.S137_splice|GCOM1_ENST00000380569.2_Splice_Site_p.S137_splice|GCOM1_ENST00000380561.2_Intron NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 137 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CAGGAACTATCAGTAAGTCAT 0.468000 11 100 0 0 5.50884e-06 0 0 NUP37 79023 broad.mit.edu 37 12 102512168 102512168 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr12:102512168A>G ENST00000552283.1 - 2 268 c.129T>C c.(127-129)taT>taC p.Y43Y NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Silent_p.Y43Y Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 43 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 CAATGACCACATAATTATTGC 0.388000 26 113 0 0 1.32003e-05 0 0 ITGA3 3675 broad.mit.edu 37 17 48157685 48157685 + Silent SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:48157685C>T ENST00000320031.8 + 22 3096 c.2766C>T c.(2764-2766)ccC>ccT p.P922P ITGA3_ENST00000007722.7_Silent_p.P922P NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 922 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 CTGATGCCCCCGTTGTCACCA 0.602000 12 5 0 0 5.01169e-05 0 0 ESD 2098 broad.mit.edu 37 13 47365541 47365541 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr13:47365541A>G ENST00000378720.3 - 3 190 c.8T>C c.(7-9)tTg>tCg p.L3S ESD_ENST00000378697.1_5'UTR|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 3 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) AATCTGCTTCAATGCCATTCT 0.313000 31 57 0 0 1.48458e-05 0 0 ITGAV 3685 broad.mit.edu 37 2 187511592 187511592 + Missense_Mutation SNP A A T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr2:187511592A>T ENST00000261023.3 + 13 1613 c.1339A>T c.(1339-1341)Aat>Tat p.N447Y AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.N411Y|ITGAV_ENST00000433736.2_Missense_Mutation_p.N401Y NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 447 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TATAGACAAAAATGGATATCC 0.398000 8 14 0 0 1.12685e-05 0 0 NMUR2 56923 broad.mit.edu 37 5 151771827 151771827 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr5:151771827A>G ENST00000255262.3 - 4 1338 c.1173T>C c.(1171-1173)tcT>tcC p.S391S NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 391 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CTGGGAGGTGAGAGTTGTGCA 0.478000 8 293 0 0 2.17888e-05 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058118 114058118 + Missense_Mutation SNP G G A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr3:114058118G>A ENST00000462705.1 - 12 2562 c.1741C>T c.(1741-1743)Cgc>Tgc p.R581C ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 654 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CGGTGGAGGCGCATGTGCACG 0.552000 35 74 0 0 7.51294e-05 0 0 CLTCL1 8218 broad.mit.edu 37 22 19178884 19178884 + Missense_Mutation SNP T T C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr22:19178884T>C ENST00000263200.10 - 27 4327 c.4255A>G c.(4255-4257)Atc>Gtc p.I1419V CLTCL1_ENST00000353891.5_Missense_Mutation_p.I1419V|CLTCL1_ENST00000427926.1_Missense_Mutation_p.I1419V|CLTCL1_ENST00000442042.2_5'UTR NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1419 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AGGTCATTGATGAGCAGTGGT 0.527000 T ? ALCL 5 59 0 0 2.0095e-06 0 0 SLC16A1 6566 broad.mit.edu 37 1 113464617 113464617 + Missense_Mutation SNP A A T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:113464617A>T ENST00000538576.1 - 3 1187 c.356T>A c.(355-357)aTt>aAt p.I119N SLC16A1_ENST00000369626.3_Missense_Mutation_p.I119N|SLC16A1_ENST00000433570.4_Missense_Mutation_p.I119N NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 119 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CTCACCTCCAATGACTCCAAT 0.413000 14 54 0 0 7.07596e-05 0 0 C16orf78 123970 broad.mit.edu 37 16 49407922 49407922 + Missense_Mutation SNP A A C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr16:49407922A>C ENST00000299191.3 + 1 189 c.72A>C c.(70-72)gaA>gaC p.E24D NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 24 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 AGACTGCTGAAGATAGGCGCA 0.517000 21 70 0 0 4.16121e-05 0 0 FLT1 2321 broad.mit.edu 37 13 29005390 29005390 + Missense_Mutation SNP T T G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr13:29005390T>G ENST00000282397.4 - 7 1122 c.871A>C c.(871-873)Ata>Cta p.I291L FLT1_ENST00000541932.1_Missense_Mutation_p.I291L|FLT1_ENST00000539099.1_Missense_Mutation_p.I291L NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 291 Ig-like C2-type 3. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTGTAGAATATGTTGGCATGG 0.368000 39 53 0 0 1.39061e-05 0 0 SEMA6B 10501 broad.mit.edu 37 19 4548389 4548389 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr19:4548389A>G ENST00000586582.1 - 13 1650 c.1340T>C c.(1339-1341)cTg>cCg p.L447P SEMA6B_ENST00000586965.1_Missense_Mutation_p.L447P|SEMA6B_ENST00000301293.3_Missense_Mutation_p.L447P NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 447 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAGAACCCAGGAAGACAAC 0.662000 5 26 0 0 1.23904e-05 0 0 KCNMA1 3778 broad.mit.edu 37 10 78943241 78943241 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr10:78943241A>G ENST00000286627.5 - 5 1698 c.746T>C c.(745-747)gTa>gCa p.V249A KCNMA1_ENST00000354353.5_Missense_Mutation_p.V249A|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V249A|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V249A|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V249A|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V249A|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V249A NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 249 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GAAATCCACTACAGAGTTCAC 0.448000 5 17 0 0 1.23904e-05 0 0 TLE4 7091 broad.mit.edu 37 9 82321762 82321762 + Missense_Mutation SNP C C G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr9:82321762C>G ENST00000376520.4 + 11 1712 c.884C>G c.(883-885)tCt>tGt p.S295C TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Missense_Mutation_p.S295C|TLE4_ENST00000265284.6_Missense_Mutation_p.S270C|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.S295C O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGTCCAGCCTCTATTGCATCT 0.522000 50 89 0 0 2.47226e-05 0 0 ZNF721 170960 broad.mit.edu 37 4 435871 435871 + Missense_Mutation SNP G G C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:435871G>C ENST00000338977.5 - 2 2397 c.2349C>G c.(2347-2349)agC>agG p.S783R ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.S795R|ZNF721_ENST00000506646.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GTTTAGCAAAGCTTGAGGATG 0.368000 15 40 0 0 3.45872e-05 0 0 BSN 8927 broad.mit.edu 37 3 49693606 49693606 + Missense_Mutation SNP T T C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr3:49693606T>C ENST00000296452.4 + 5 6731 c.6617T>C c.(6616-6618)cTg>cCg p.L2206P NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2206 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCTGCAACACTGCCCATCACC 0.582000 11 11 0 0 3.86212e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10408756 10408756 + Silent SNP G G A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:10408756G>A ENST00000226207.5 - 20 2341 c.2247C>T c.(2245-2247)ctC>ctT p.L749L CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 749 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.L750M(2) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGGACCCCAGGAGCTTCTCTG 0.403000 20 42 0 0 1.15919e-05 0 0 HSPA6 3310 broad.mit.edu 37 1 161494813 161494813 + Missense_Mutation SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:161494813C>T ENST00000309758.4 + 1 778 c.365C>T c.(364-366)tCg>tTg p.S122L NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 122 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GAGGAGATCTCGTCCATGGTG 0.627000 5 25 0 0 2.0095e-06 0 0 DUXA 503835 broad.mit.edu 37 19 57666738 57666738 + Silent SNP A A T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr19:57666738A>T ENST00000554048.2 - 5 440 c.441T>A c.(439-441)atT>atA p.I147I NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 147 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTTGGAACCAAATCTAAGTGG 0.373000 9 38 0 0 1.12685e-05 0 0 GBA3 57733 broad.mit.edu 37 4 22729244 22729244 + RNA SNP A A C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:22729244A>C ENST00000511446.1 + 0 61 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CAACAAGCAAAAAAGGAGTCT 0.413000 33 178 0 0 1.48458e-05 0 0 PCDH20 64881 broad.mit.edu 37 13 61986652 61986652 + Missense_Mutation SNP T T A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr13:61986652T>A ENST00000409186.1 - 5 3685 c.1580A>T c.(1579-1581)gAt>gTt p.D527V PCDH20_ENST00000409204.4_Missense_Mutation_p.D527V Q8N6Y1 PCD20_HUMAN protocadherin 20 500 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ATCATTGTCATCTAAAAGTTG 0.403000 27 118 0 0 2.25844e-05 0 0 SMCHD1 23347 broad.mit.edu 37 18 2760728 2760728 + Silent SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr18:2760728C>T ENST00000320876.6 + 35 4763 c.4425C>T c.(4423-4425)aaC>aaT p.N1475N RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.N1475N NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1475 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 ATATTCTCAACAGTGAACAGG 0.294000 13 52 0 0 1.49906e-05 0 0 PI4KA 5297 broad.mit.edu 37 22 21174140 21174140 + Missense_Mutation SNP G G A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr22:21174140G>A ENST00000255882.6 - 6 664 c.578C>T c.(577-579)gCa>gTa p.A193V PI4KA_ENST00000572273.1_Missense_Mutation_p.A135V NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 135 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ACGCCCAAATGCTCGCGAGAT 0.443000 33 2115 0 0 5.01169e-05 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13399557 13399557 + Missense_Mutation SNP T T G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:13399557T>G ENST00000284110.1 - 2 1975 c.1178A>C c.(1177-1179)aAg>aCg p.K393T HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.K191T NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 393 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGGTAGAACTTGAGGTTGAA 0.478000 13 45 0 0 8.00594e-06 0 0 MAGI2 9863 broad.mit.edu 37 7 77973259 77973259 + Missense_Mutation SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr7:77973259C>T ENST00000354212.4 - 9 1497 c.1244G>A c.(1243-1245)cGg>cAg p.R415Q MAGI2_ENST00000419488.1_Missense_Mutation_p.R415Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R252Q|MAGI2_ENST00000536571.1_Missense_Mutation_p.R247Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R415Q NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 415 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGATGCATCCCGGGTGAAGAG 0.453000 8 36 0 0 2.17888e-05 0 0 P2RX6 9127 broad.mit.edu 37 22 21369573 21369573 + Missense_Mutation SNP G G T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr22:21369573G>T ENST00000413302.2 + 1 258 c.110G>T c.(109-111)cGg>cTg p.R37L P2RX6_ENST00000591411.1_Intron|P2RX6_ENST00000402329.3_Intron|P2RX6_ENST00000401443.1_Intron|P2RX6_ENST00000443995.3_5'UTR|P2RX6_ENST00000336296.2_Missense_Mutation_p.R27L O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 37 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity AGGAACTGGCGGGTGGGCGCC 0.597000 38 2094 3.65163e-15 8.76019e-13 1.7367e-05 1 0 CHMP1B 57132 broad.mit.edu 37 18 11852107 11852107 + Silent SNP G G A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr18:11852107G>A ENST00000526991.2 + 1 713 c.597G>A c.(595-597)gtG>gtA p.V199V RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron NM_020412.4 NP_065145.2 Q7LBR1 CHM1B_HUMAN charged multivesicular body protein 1B 199 Interaction with SPAST.|Interaction with VPS4B.|Interaction with VTA1. cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|lung(1)|urinary_tract(1) 3 GGGATCAAGTGTGACGGCAGA 0.587000 5 8 0 0 3.59834e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 5 71 0 0 3.59834e-05 0 0 USP41 373856 broad.mit.edu 37 22 20721019 20721019 + Silent SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr22:20721019C>T ENST00000454608.2 - 10 728 c.729G>A c.(727-729)ttG>ttA p.L243L USP41_ENST00000486536.2_5'UTR ubiquitin specific peptidase 41 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 GGGTCAGCTTCAAGACCTGAA 0.488000 118 102 0 0 2.47226e-05 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796824 93796824 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr11:93796824A>G ENST00000315765.9 + 3 574 c.566A>G c.(565-567)cAc>cGc p.H189R NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 189 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TACCATTCGCACATCGACGCC 0.537000 11 58 0 0 1.49906e-05 0 0 ZNF711 7552 broad.mit.edu 37 X 84526177 84526177 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chrX:84526177A>G ENST00000360700.4 + 10 2653 c.1767A>G c.(1765-1767)gcA>gcG p.A589A ZNF711_ENST00000373165.3_Silent_p.A543A|ZNF711_ENST00000276123.3_Silent_p.A543A|ZNF711_ENST00000395402.1_Silent_p.A551A|ZNF711_ENST00000542798.1_Silent_p.A385A Q9Y462 ZN711_HUMAN zinc finger protein 711 543 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TCAGGTGTGCAGATCAATCAA 0.403000 7 8 0 0 5.18039e-06 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658501 72658501 + RNA SNP T T C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr7:72658501T>C ENST00000425256.1 - 0 1410 NR_002164.1 tctcatcgattgcgatagaat 0.458000 4 49 0 0 1.23904e-05 0 0 TDRD5 163589 broad.mit.edu 37 1 179631268 179631268 + Silent SNP G G T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:179631268G>T ENST00000444136.1 + 15 2602 c.2352G>T c.(2350-2352)ctG>ctT p.L784L TDRD5_ENST00000294848.8_Silent_p.L730L|TDRD5_ENST00000367614.1_Silent_p.L730L NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 781 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.L730L(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGCCATGCCTGGAGTCAGTGA 0.403000 30 72 3.28013e-08 7.73783e-06 2.31628e-05 1 0 TPTE 7179 broad.mit.edu 37 21 10934960 10934960 + Missense_Mutation SNP T T C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr21:10934960T>C ENST00000298232.7 - 14 1146 c.779A>G c.(778-780)cAc>cGc p.H260R TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.H278R|TPTE_ENST00000342420.5_Missense_Mutation_p.H240R NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 278 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GACTCGATAGTGGTTTCGGTG 0.343000 19 155 0 0 1.64113e-05 0 0 KIT 3815 broad.mit.edu 37 4 55594221 55594221 + Missense_Mutation SNP A A G rs121913512 TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:55594221A>G ENST00000288135.5 + 13 2021 c.1924A>G c.(1924-1926)Aaa>Gaa p.K642E NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 642 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.K642E(25)|p.K642Q(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTCTGAACTCAAAGTCCTGAG 0.438000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 312 61 0 0 2.47226e-05 0 0 CASK 8573 broad.mit.edu 37 X 41646527 41646527 + Missense_Mutation SNP C C G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chrX:41646527C>G ENST00000318588.9 - 3 227 c.182G>C c.(181-183)cGg>cCg p.R61P CASK_ENST00000421587.2_Missense_Mutation_p.R61P|CASK_ENST00000378166.4_Missense_Mutation_p.R61P|CASK_ENST00000442742.2_Missense_Mutation_p.R61P|CASK_ENST00000378163.1_Missense_Mutation_p.R61P|CASK_ENST00000378158.1_Missense_Mutation_p.R61P|CASK_ENST00000361962.4_Missense_Mutation_p.R61P|CASK_ENST00000378154.1_Missense_Mutation_p.R61P O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 61 Protein kinase. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 ACTGGCTTCCCGCTTTAGATC 0.363000 4 57 0 0 2.56e-06 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20483995 20483995 + Splice_Site SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr20:20483995C>T ENST00000202677.6 - 35 5350 c.5208_splice c.e35+1 p.K1736_splice NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1736 Rap-GAP. activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GACCCCTTACCTTTTTGGTGA 0.517000 16 23 0 0 8.00594e-06 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735314 109735314 + Missense_Mutation SNP C C T TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:109735314C>T ENST00000369939.3 + 14 1948 c.1765C>T c.(1765-1767)Cgt>Tgt p.R589C KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.R502C NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 589 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CTCCTACTGCCGTCCCTGTGC 0.522000 106 257 0 0 2.47226e-05 0 0 IGFL3 388555 broad.mit.edu 37 19 46627194 46627194 + Missense_Mutation SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr19:46627194A>G ENST00000341415.2 - 3 323 c.299T>C c.(298-300)cTg>cCg p.L100P AC007193.6_ENST00000597989.1_lincRNA NM_207393.1 NP_997276.1 Q6UXB1 IGFL3_HUMAN IGF-like family member 3 100 extracellular region protein binding endometrium(1)|large_intestine(1)|lung(5) 7 Ovarian(192;0.0175)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239) CTTCATACCCAGAACCCTCAA 0.542000 7 120 0 0 5.18039e-06 0 0 APBB1IP 54518 broad.mit.edu 37 10 26790050 26790050 + Missense_Mutation SNP T T C TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr10:26790050T>C ENST00000356785.4 + 5 696 c.463T>C c.(463-465)Tgg>Cgg p.W155R APBB1IP_ENST00000376236.4_Intron Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0 Poly-Glu. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium p.?(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 GGTAAGTATGTGGGACCAGAG 0.488000 30 50 0 0 3.70037e-05 0 0 TTF1 7270 broad.mit.edu 37 9 135273619 135273619 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr9:135273619A>G ENST00000334270.2 - 4 1725 c.1686T>C c.(1684-1686)agT>agC p.S562S NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 562 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GCTTGTCTGCACTCTCAATGC 0.383000 13 39 0 0 9.31168e-06 0 0 ASCC3 10973 broad.mit.edu 37 6 101127554 101127554 + Silent SNP A A G TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr6:101127554A>G ENST00000369162.2 - 14 2570 c.2226T>C c.(2224-2226)tgT>tgC p.C742C NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 742 Helicase C-terminal 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GAATATGGCCACAATTTTTTG 0.368000 5 84 0 0 1.23904e-05 0 0 AHCTF1 25909 broad.mit.edu 37 1 247019110 247019111 + Frame_Shift_Del DEL AC AC - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr1:247019110_247019111delAC ENST00000366508.1 - 31 4516_4517 c.4380_4381delGT c.(4378-4383)aaccfs p.KS1460fs AHCTF1_ENST00000391829.2_Frame_Shift_Del_p.KS1425fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Frame_Shift_Del_p.KS1434fs Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1425 Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GGTACCTTGGACTTCTGGGTGA 0.371 33 86 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88874269 88874270 + Frame_Shift_Del DEL CT CT - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr2:88874269_88874270delCT ENST00000303236.3 - 13 3032_3033 c.2731_2732delAG c.(2731-2733)gfs p.R911fs EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 911 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ACACACGCTCCTCTCTCTCTCC 0.465 10 601 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 8 382 --- --- --- --- ITGA4 3676 broad.mit.edu 37 2 182343491 182343492 + Frame_Shift_Ins INS - - A TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr2:182343491_182343492insA ENST00000397033.2 + 5 994_995 c.564_565insA c.(562-567)gtaaaafs p.VK188fs ITGA4_ENST00000478440.1_3'UTR NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 188 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TAGATTATGTGAAAAAATTTGG 0.243 9 29 --- --- --- --- SLITRK3 22865 broad.mit.edu 37 3 164906282 164906282 + Frame_Shift_Del DEL A A - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr3:164906282delA ENST00000475390.1 - 2 2780 c.2337delT c.(2335-2337)ggfs p.G779fs SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.G779fs O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 779 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GTGTCCCTGGACCCCCACGTT 0.562 HNSCC(40;0.11) 14 53 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 8 120 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 7 460 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 14 3600 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 5 11 --- --- --- --- ENDOV 284131 broad.mit.edu 37 17 78397370 78397370 + Frame_Shift_Del DEL G G - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr17:78397370delG ENST00000518137.1 + 5 482 c.454delG c.(454-456)ggfs p.G152fs ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000517295.2_Frame_Shift_Del_p.G69fs|ENDOV_ENST00000520367.1_Frame_Shift_Del_p.G107fs|ENDOV_ENST00000518644.1_Frame_Shift_Del_p.G69fs|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000323854.5_Frame_Shift_Del_p.G107fs NM_173627.3 NP_775898.2 Q8N8Q3 ENDOV_HUMAN endonuclease V 152 DNA repair endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding endometrium(1)|lung(1)|pancreas(1)|prostate(1) 4 GCCGTGTGTTGGGGTGGCCAA 0.652 Direct reversal of damage 2 4 --- --- --- --- SLC52A3 113278 broad.mit.edu 37 20 744613 744613 + Frame_Shift_Del DEL C C - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr20:744613delC ENST00000381944.3 - 3 843 c.602delG c.(601-603)gafs p.G201fs SLC52A3_ENST00000217254.7_Frame_Shift_Del_p.G201fs|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 201 sensory perception of sound integral to plasma membrane riboflavin transporter activity TGCTTCCATTCCGGGGAGGGC 0.587 2 4 --- --- --- --- CRKL 1399 broad.mit.edu 37 22 21304075 21304075 + Frame_Shift_Del DEL T T - TCGA-D3-A1Q3-06A-11D-A196-08 TCGA-D3-A1Q3-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0955adc-8469-48a3-a66e-b0059adda3a6 ea02a2db-bb1c-43b6-8977-7289dd750b3c g.chr22:21304075delT ENST00000354336.3 + 3 1363 c.854delT c.(853-855)ctfs p.L285fs NM_005207.3 NP_005198.1 P46109 CRKL_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog-like 285 SH3 2. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7) 14 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) CGCAAAGGGCTTTTCCCCTTT 0.468 8 2850 --- --- --- ---