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 SEMG1 6406 broad.mit.edu 37 20 43836817 43836817 + Silent SNP A A G rs17850164 TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr20:43836817A>G ENST00000372781.3 + 2 936 c.879A>G c.(877-879)acA>acG p.T293T SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I p.T293T(2) cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTTCAAGTACAGAAGAAAGAC 0.383000 4 80 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206566110 206566110 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:206566110C>T ENST00000414007.1 + 2 131 c.131C>T c.(130-132)gCg>gTg p.A44V SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 184 FCH. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CTAAAGGAGGCGGAGAAGCAG 0.557000 4 39 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41205821 41205821 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chrX:41205821G>A ENST00000399959.2 + 14 2416 c.1561G>A c.(1561-1563)Gat>Aat p.D521N DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 521 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 CTTGCCAAGTGATATTGAAGA 0.363000 HNSCC(61;0.18) 5 147 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 3 43 0 0 1 0 0 EPB41 2035 broad.mit.edu 37 1 29365807 29365807 + Missense_Mutation SNP C C A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:29365807C>A ENST00000343067.4 + 11 1632 c.1505C>A c.(1504-1506)gCg>gAg p.A502E EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E|EPB41_ENST00000347529.3_Missense_Mutation_p.A467E NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 502 Hydrophilic. blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) AAATTTCTTGCGCTAGGATCC 0.428000 16 70 1.02788e-11 1.06333e-11 1 1 0 IGSF9B 22997 broad.mit.edu 37 11 133790306 133790306 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr11:133790306C>T ENST00000321016.8 - 18 3544 c.3314G>A c.(3313-3315)gGc>gAc p.G1105D IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1105D Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1105 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGCGACTTGCCTGCCCAACC 0.706000 3 45 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 4 23 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153884185 153884185 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr4:153884185C>T ENST00000511601.1 + 8 1120 c.932C>T c.(931-933)gCc>gTc p.A311V FHDC1_ENST00000260008.3_Missense_Mutation_p.A311V Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 311 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGAGGGTATGCCGGCAATGCA 0.403000 4 173 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303977 53303977 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr19:53303977C>T ENST00000438150.2 - 2 1855 c.962G>A c.(961-963)cGt>cAt p.R321H ZNF28_ENST00000457749.2_Missense_Mutation_p.R374H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H P17035 ZNF28_HUMAN zinc finger protein 28 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) ATGAAGCCTACGATGGCGTGC 0.383000 4 172 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32200859 32200859 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr22:32200859G>A ENST00000400246.1 + 17 1317 c.1175G>A c.(1174-1176)cGt>cAt p.R392H DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H O75140 DEPD5_HUMAN DEP domain containing 5 392 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CGTGATTCTCGTCTGGGCGAT 0.453000 4 178 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162172 90162172 + RNA SNP T T C TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr16:90162172T>C ENST00000567960.1 + 0 908 TUBB8P7_ENST00000564451.1_RNA GATGGCTGCCTGTGACCCCCG 0.567000 5 146 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5074086 5074086 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr17:5074086G>A ENST00000574788.1 + 36 6060 c.3830G>A c.(3829-3831)tGt>tAt p.C1277Y USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.C960Y|USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1277 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CATGAAGCATGTGGCAATGGC 0.522000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 5 93 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38958370 38958370 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr19:38958370G>A ENST00000355481.4 + 25 3430 c.3299G>A c.(3298-3300)cGc>cAc p.R1100H RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1100 6 X approximate repeats.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCGAGATGCGCGTGGGCTGG 0.627000 12 73 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96112725 96112725 + Silent SNP C C G TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr10:96112725C>G ENST00000371361.3 - 7 886 c.786G>C c.(784-786)ctG>ctC p.L262L NOC3L_ENST00000543788.1_5'UTR|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 262 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ATAACTCCATCAGAGAAACAA 0.333000 4 242 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235969125 235969125 + Missense_Mutation SNP C C T rs148299757 by1000genomes TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:235969125C>T ENST00000389794.3 - 6 3485 c.3311G>A c.(3310-3312)cGa>cAa p.R1104Q LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q|LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q Q99698 LYST_HUMAN lysosomal trafficking regulator 1104 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTCCAAAAGTCGTATACTTTG 0.428000 34 51 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74725330 74725330 + Silent SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr16:74725330C>T ENST00000308807.7 - 4 1030 c.567G>A c.(565-567)ccG>ccA p.P189P MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 189 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TTTGCTCTTGCGGGATCTCCT 0.478000 8 245 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 44 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58077523 58077523 + Missense_Mutation SNP A A G TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr16:58077523A>G ENST00000219271.3 + 9 2347 c.1562A>G c.(1561-1563)aAt>aGt p.N521S NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 521 Hemopexin-like 4. protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 TTCCTGAGCAATGACGCAGGT 0.627000 8 11 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167494 140167494 + Missense_Mutation SNP C C T TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr5:140167494C>T ENST00000504120.2 + 1 1619 c.1619C>T c.(1618-1620)gCg>gTg p.A540V PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGATGCGGGCGTGCCG 0.682000 5 160 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52864053 52864053 + RNA SNP T T A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr13:52864053T>A ENST00000451298.1 - 0 116 RP11-64P12.8_ENST00000606031.1_RNA AACTTTGCTATCAGTGAAAAT 0.308000 3 34 0 0 1 0 0 ILDR1 286676 broad.mit.edu 37 3 121720708 121720708 + Missense_Mutation SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr3:121720708G>A ENST00000273691.3 - 4 488 c.383C>T c.(382-384)gCa>gTa p.A128V ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.A128V NM_175924.3 NP_787120.1 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 1 128 Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(114;0.156) CACGAGATCTGCTCCTACACA 0.517000 16 34 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39817410 39817410 + Silent SNP G G A TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr21:39817410G>A ENST00000442448.1 - 4 445 c.174C>T c.(172-174)gtC>gtT p.V58V ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000417133.2_Silent_p.V58V|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398905.1_Silent_p.V51V|ERG_ENST00000453032.2_Intron NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 58 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) CCTGCTGAGGGACGCGTGGGC 0.562000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 8 65 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10699541 10699541 + Frame_Shift_Del DEL G G - TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr1:10699541delG ENST00000377022.3 - 21 5055 c.4738delC c.(4738-4740)acfs p.H1580fs RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1580 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACCACCGTGTGGCGGCAGCCC 0.697 2 4 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 3 --- --- --- --- C2CD4B 388125 broad.mit.edu 37 15 62456957 62456957 + Frame_Shift_Del DEL G G - TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr15:62456957delG ENST00000380392.3 - 2 355 c.227delC c.(226-228)agfs p.T76fs NM_001007595.2 NP_001007596.2 A6NLJ0 C2C4B_HUMAN C2 calcium-dependent domain containing 4B 76 nucleus skin(1) 1 GTCCCAGTCCGTGCGGCCGGC 0.751 2 4 --- --- --- --- MIR3648-2 103504731 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-RW-A67W-01A-11D-A35D-08 TCGA-RW-A67W-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a2802760-5ae5-4aa6-8221-6410cfd3fe5f 962810ca-3ae8-4c48-ac0b-aba7aea29b12 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 8 8 --- --- --- ---