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 RAB15 376267 broad.mit.edu 37 14 65417801 65417801 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr14:65417801G>A ENST00000533601.2 - 4 652 c.315C>T c.(313-315)gaC>gaT p.D105D CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000267512.5_Silent_p.D105D|RAB15_ENST00000426039.3_Silent_p.D59D|RAB15_ENST00000436278.2_Silent_p.D59D|CHURC1-FNTB_ENST00000447296.2_Intron P59190 RAB15_HUMAN RAB15, member RAS oncogene family 105 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) CCTCATCCACGTCACTGACCC 0.537000 7 63 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117657907 117657907 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr12:117657907G>A ENST00000317775.6 - 27 4828 c.4143C>T c.(4141-4143)gaC>gaT p.D1381D NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D1415D NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1381 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.D1381D(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATACGCCGGCGTCCTCTGCCG 0.577000 29 72 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27062354 27062354 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr17:27062354G>A ENST00000268766.6 + 4 617 c.583G>A c.(583-585)Gag>Aag p.E195K NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 195 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) TGTCCTCTACGAGCTGGCCAG 0.602000 7 16 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) 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) AGGAGAAGTTACGGGAAGGGA 0.527000 4 47 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157062700 157062700 + Missense_Mutation SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr1:157062700C>T ENST00000454449.2 - 5 1111 c.827G>A c.(826-828)aGc>aAc p.S276N NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 276 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CCCTGGGAGGCTCCTAGGTCC 0.642000 12 21 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201822199 201822199 + Missense_Mutation SNP A A G TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr1:201822199A>G ENST00000361565.4 + 6 733 c.664A>G c.(664-666)Atc>Gtc p.I222V IPO9_ENST00000464348.1_3'UTR NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 222 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TGCCCATATGATCTGTAACAT 0.438000 5 182 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28692856 28692856 + Silent SNP C C A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr8:28692856C>A ENST00000416984.2 - 5 737 c.378G>T c.(376-378)gtG>gtT p.V126V INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000521022.1_Silent_p.V147V NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 147 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GAGCCTTTGGCACTCTTTCAA 0.443000 3 37 1 1 1 1 0 CSDC2 27254 broad.mit.edu 37 22 41969756 41969756 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr22:41969756G>A ENST00000306149.7 + 3 818 c.274G>A c.(274-276)Gag>Aag p.E92K NM_014460.3 NP_055275.1 Q9Y534 CSDC2_HUMAN cold shock domain containing C2, RNA binding 92 CSD. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|RNA binding prostate(2)|upper_aerodigestive_tract(1) 3 GAACGGGTCCGAGGACATCTT 0.607000 13 24 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292291 6292291 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr11:6292291G>A ENST00000525462.1 + 4 1072 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K CCKBR_ENST00000532715.1_Missense_Mutation_p.E204K|CCKBR_ENST00000334619.2_Missense_Mutation_p.E288K|CCKBR_ENST00000532396.1_3'UTR P32239 GASR_HUMAN cholecystokinin B receptor 288 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CGCGGTTGGCGAAGACAGCGA 0.677000 4 90 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102027947 102027947 + Silent SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr14:102027947C>T ENST00000510508.4 + 1 260 c.114C>T c.(112-114)ctC>ctT p.L38L DIO3_ENST00000359323.3_Silent_p.L12L P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 12 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CCTTGAGGCTCTGCGCCCAGA 0.657000 10 25 0 0 1 0 0 SLC23A3 151295 broad.mit.edu 37 2 220028152 220028152 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:220028152G>A ENST00000455516.2 - 10 1470 c.1423C>T c.(1423-1425)Ctg>Ttg p.L475L SLC23A3_ENST00000409878.3_Silent_p.L467L|SLC23A3_ENST00000295738.7_Silent_p.L350L|SLC23A3_ENST00000396775.3_3'UTR NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 467 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCTTGGCAGCAGCAAGGCC 0.527000 4 144 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5410912 5410912 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr11:5410912G>A ENST00000328611.3 + 1 306 c.284G>A c.(283-285)gGg>gAg p.G95E HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 95 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCACTATGGGGATCTTCTGG 0.507000 35 81 0 0 1 0 0 CXCL1 2919 broad.mit.edu 37 4 74735480 74735480 + Silent SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr4:74735480C>T ENST00000395761.3 + 2 262 c.195C>T c.(193-195)ccC>ccT p.P65P CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 65 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGAAGTCCCCCGGACCCCACT 0.652000 37 68 0 0 1 0 0 NFKBID 84807 broad.mit.edu 37 19 36381296 36381296 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr19:36381296G>A ENST00000396901.1 - 10 1276 c.703C>T c.(703-705)Cgg>Tgg p.R235W NFKBID_ENST00000340950.2_Missense_Mutation_p.R72W|NFKBID_ENST00000352614.2_Missense_Mutation_p.R387W|NFKBID_ENST00000606253.1_Missense_Mutation_p.R235W NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 235 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 ACAAAGGTCCGCAGGTCTCCC 0.617000 7 40 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63991021 63991021 + Silent SNP G G A rs137949367 TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr6:63991021G>A ENST00000370658.5 - 4 468 c.435C>T c.(433-435)agC>agT p.S145S LGSN_ENST00000370657.4_Silent_p.S145S NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 145 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GGACTATGTCGCTATTAAAAC 0.423000 21 65 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216269132 216269132 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:216269132G>A ENST00000354785.4 - 20 3602 c.3233C>T c.(3232-3234)gCc>gTc p.A1078V FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V P02751 FINC_HUMAN fibronectin 1 1078 Fibronectin type-III 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACTCCAGTGGCTTTGGGGCT 0.433000 6 87 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168093667 168093667 + Missense_Mutation SNP C C T rs61735416 TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr5:168093667C>T ENST00000519560.1 - 36 4783 c.4364G>A c.(4363-4365)cGa>cAa p.R1455Q CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1462Q NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1455 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GATCACCTCTCGGACTACTTG 0.597000 9 38 0 0 1 0 0 FBXO16 157574 broad.mit.edu 37 8 28304692 28304692 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr8:28304692G>A ENST00000380254.2 - 7 987 c.839C>T c.(838-840)tCa>tTa p.S280L FBXO16_ENST00000518734.1_Missense_Mutation_p.S268L|FBXO16_ENST00000346498.2_Missense_Mutation_p.S268L NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 280 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) ACTTACCATTGATTGTGCTTT 0.318000 22 53 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94454307 94454307 + Missense_Mutation SNP A A C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:94454307A>C ENST00000282728.5 + 4 2394 c.595A>C c.(595-597)Aac>Cac p.N199H HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 199 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 TATTCAGGAGAACCCTCAAAG 0.368000 11 13 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5564760 5564760 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr4:5564760G>A ENST00000310917.2 - 22 4233 c.3502C>T c.(3502-3504)Ccc>Tcc p.P1168S EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1248 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TCGCCAATGGGCTCCAGTGAC 0.443000 9 146 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63672332 63672332 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr11:63672332G>A ENST00000402010.2 + 16 2330 c.1751G>A c.(1750-1752)cGa>cAa p.R584Q MARK2_ENST00000377809.4_Missense_Mutation_p.R584Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R530Q|MARK2_ENST00000509502.2_Missense_Mutation_p.R550Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R504Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R529Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R583Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R584Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R496Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R529Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R551Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R530Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R496Q NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 584 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GCCCCAGACCGAACTAACTTC 0.637000 22 34 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 3 29 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16328576 16328576 + Translation_Start_Site SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr6:16328576C>T ENST00000244769.4 - 0 902 ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GACTGTTTCACTGTCTGGATG 0.527000 3 8 0 0 1 0 0 PTGES3L-AARSD1 0 broad.mit.edu 37 17 41107892 41107892 + Missense_Mutation SNP T T C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr17:41107892T>C ENST00000421990.2 - 12 1628 c.1283A>G c.(1282-1284)cAt>cGt p.H428R PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R NM_001136042.2 NP_001129514.2 TTCAGTTCCATGACTTCTCTC 0.438000 5 155 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94454417 94454417 + Missense_Mutation SNP A A C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:94454417A>C ENST00000282728.5 + 4 2504 c.705A>C c.(703-705)caA>caC p.Q235H HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 235 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 ATAGCTCTCAATGTTCGCCCT 0.438000 17 27 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903707 11903707 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr20:11903707G>A ENST00000405977.1 + 5 1587 c.962G>A c.(961-963)cGc>cAc p.R321H BTBD3_ENST00000254977.3_Missense_Mutation_p.R260H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R321H|BTBD3_ENST00000399006.2_Missense_Mutation_p.R260H Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 321 p.R321H(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 TACTTGATCCGCATACCCACA 0.473000 4 96 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529581 80529581 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:80529581G>A ENST00000295057.3 - 2 2020 c.1364C>T c.(1363-1365)gCc>gTc p.A455V CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 455 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CCTGAGGCTGGCTGGGAAACA 0.572000 HNSCC(69;0.2) 19 27 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5353440 5353440 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr7:5353440G>A ENST00000399537.4 - 27 7430 c.7082C>T c.(7081-7083)cCc>cTc p.P2361L TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L O15417 TNC18_HUMAN trinucleotide repeat containing 18 2361 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CAGGGCTAAGGGGGTACTGGG 0.662000 10 18 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98844716 98844716 + Missense_Mutation SNP C C A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:98844716C>A ENST00000477737.1 + 15 2275 c.2071C>A c.(2071-2073)Ctg>Atg p.L691M NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 691 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCACAGTGATCTGGAGAAGAT 0.433000 19 44 8.00594e-06 8.33952e-06 1 1 0 HHEX 3087 broad.mit.edu 37 10 94454330 94454330 + Missense_Mutation SNP A A C TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:94454330A>C ENST00000282728.5 + 4 2417 c.618A>C c.(616-618)gaA>gaC p.E206D HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 206 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 ATAAAAAAGAAGAACTGGAAA 0.393000 12 20 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr15:102304883C>T ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 7 7 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98712028 98712028 + Missense_Mutation SNP G G T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr8:98712028G>T ENST00000336273.3 + 7 1423 c.1095G>T c.(1093-1095)caG>caT p.Q365H MTDH_ENST00000519934.1_Intron NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 365 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) CTGATTATCAGTGGGATGTTA 0.328000 31 56 3.78316e-11 4.02464e-11 1 1 0 SRRM4 84530 broad.mit.edu 37 12 119563255 119563255 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr12:119563255G>A ENST00000267260.4 + 7 973 c.585G>A c.(583-585)tcG>tcA p.S195S SRRM4_ENST00000537597.1_3'UTR NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 195 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CCCAGAGCTCGGAGTCCCGCC 0.627000 13 31 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57326531 57326531 + Silent SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr19:57326531G>A ENST00000326441.9 - 10 3642 c.3279C>T c.(3277-3279)gaC>gaT p.D1093D PEG3_ENST00000423103.2_Silent_p.D1093D|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.D967D NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1093 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTCTTCCATGTCTGAGCCTT 0.522000 41 60 0 0 1 0 0 SOCS5 0 broad.mit.edu 37 2 46985998 46985998 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr2:46985998G>A ENST00000306503.5 + 2 501 c.329G>A c.(328-330)cGa>cAa p.R110Q SOCS5_ENST00000394861.2_Missense_Mutation_p.R110Q NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 110 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AGACTTGCACGAAGAGATTCC 0.403000 16 33 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99661288 99661288 + Missense_Mutation SNP G G A TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:99661288G>A ENST00000370597.3 - 8 1460 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369C NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 369 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GAGGAGCTGCGGTAGGCAATG 0.577000 10 9 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14197915 14197915 + Silent SNP C C T TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr3:14197915C>T ENST00000285021.7 - 10 2167 c.1953G>A c.(1951-1953)cgG>cgA p.R651R XPC_ENST00000449060.2_Silent_p.R614R NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 651 DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCAGGAGATGCCGCTTCAGGG 0.532000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 126 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 36 0 0 1 0 0 EGFL7 51162 broad.mit.edu 37 9 139564162 139564162 + Frame_Shift_Del DEL C C - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr9:139564162delC ENST00000371699.1 + 5 1213 c.302delC c.(301-303)gcfs p.A101fs EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000371698.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000308874.7_Frame_Shift_Del_p.A101fs Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 101 EMI. angiogenesis|vasculogenesis calcium ion binding kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CTTCCTGGGGCCTGTGGAGCA 0.667 2 4 --- --- --- --- PDCD11 22984 broad.mit.edu 37 10 105201643 105201643 + Frame_Shift_Del DEL A A - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr10:105201643delA ENST00000369797.3 + 31 4712 c.4618delA c.(4618-4620)atfs p.N1540fs NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1540 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTTCGCTTGGAATGTGGGACT 0.577 10 25 --- --- --- --- DGKZ 8525 broad.mit.edu 37 11 46388339 46388339 + Frame_Shift_Del DEL G G - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr11:46388339delG ENST00000454345.1 + 2 658 c.533delG c.(532-534)tgfs p.W178fs DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000528615.1_Intron NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 178 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CACGCTCTCTGGGGCCTGCAC 0.736 2 4 --- --- --- --- PRPF40B 25766 broad.mit.edu 37 12 50036730 50036730 + Frame_Shift_Del DEL C C - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr12:50036730delC ENST00000261897.1 + 21 2585 c.2034delC c.(2032-2034)ctfs p.L678fs FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 691 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GCCAGCACCTCCACACCAAAG 0.542 2 4 --- --- --- --- CHD6 0 broad.mit.edu 37 20 40049644 40049655 + In_Frame_Del DEL GTTTTCCTCCTC GTTTTCCTCCTC - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr20:40049644_40049655delGTTTTCCTCCTC ENST00000373233.3 - 31 5797_5808 c.5620_5631delGAGGAGGAAAAC c.(5620-5631)del p.EEEN1874del NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1874 Poly-Glu. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCATGGCTAAgttttcctcctcgttttcctcc 0.429 13 40 --- --- --- --- MICAL3 57553 broad.mit.edu 37 22 18389469 18389477 + In_Frame_Del DEL TCACAGAGC TCACAGAGC - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chr22:18389469_18389477delTCACAGAGC ENST00000441493.2 - 2 454_462 c.102_110delGCTCTGTGA c.(100-111)gac>ga p.ELCD34del MICAL3_ENST00000207726.7_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000585038.1_In_Frame_Del_p.ELCD34del NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 34 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TTCCAGGTGGTCACAGAGCTCCTGGAAAG 0.526 13 148 --- --- --- --- COL4A5 1287 broad.mit.edu 37 X 107840258 107840258 + Frame_Shift_Del DEL A A - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chrX:107840258delA ENST00000328300.6 + 23 1791 c.1547delA c.(1546-1548)gafs p.E516fs COL4A5_ENST00000361603.2_Frame_Shift_Del_p.E516fs NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 516 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CAGAAAGGGGAAAAAGGACAA 0.398 Alport syndrome with Diffuse Leiomyomatosis 2 4 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-XQ-A8TB-01A-11D-A364-08 TCGA-XQ-A8TB-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba 21a67a0f-4f96-4d09-b462-3e06269d787c g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 5 10 --- --- --- ---