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 HPCAL4 51440 broad.mit.edu 37 1 40149730 40149730 + Missense_Mutation SNP A A T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr1:40149730A>T ENST00000372844.3 - 3 648 c.257T>A c.(256-258)aTc>aAc p.I86N NM_016257.2 NP_057341.1 Q9UM19 HPCL4_HUMAN hippocalcin like 4 86 EF-hand 2. central nervous system development intracellular calcium ion binding breast(1)|central_nervous_system(1)|lung(5)|stomach(1) 8 all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGGGCGCAGATGAACTCCCG 0.642000 9 18 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239513 31239513 + Missense_Mutation SNP C C T rs41548913 TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr6:31239513C>T ENST00000383329.3 - 2 220 c.206G>A c.(205-207)gGg>gAg p.G69E HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 69 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex p.G69E(5) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CCGCGGCTCCCCTCTCGGACT 0.697000 3 43 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891854 5891854 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr18:5891854G>A ENST00000581347.1 - 3 854 c.209C>T c.(208-210)gCg>gTg p.A70V RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A70V A6NKL6 T200C_HUMAN transmembrane protein 200C 70 integral to membrane p.A70V(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 GCCCACCACCGCCATGGCTAT 0.662000 18 25 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 104034551 104034551 + Silent SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr11:104034551G>A ENST00000302251.5 - 1 556 c.105C>T c.(103-105)aaC>aaT p.N35N PDGFD_ENST00000393158.2_Silent_p.N35N NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 35 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TGAGGTTGGCGTTGCGCAAAG 0.423000 OREG0021315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 30 0 0 1 0 0 CAV2 858 broad.mit.edu 37 7 116140406 116140406 + Silent SNP A A G TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr7:116140406A>G ENST00000222693.4 + 2 635 c.243A>G c.(241-243)aaA>aaG p.K81K CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.K81K NM_001206747.1|NM_001206748.1|NM_001233.4 NP_001193676.1|NP_001193677.1|NP_001224.1 P51636 CAV2_HUMAN caveolin 2 81 caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle D1 dopamine receptor binding|protein homodimerization activity large_intestine(1)|lung(1)|skin(1) 3 all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642) STAD - Stomach adenocarcinoma(10;0.00878) AAATCAGCAAATACGTAATGT 0.532000 4 40 0 0 1 0 0 WNT3A 89780 broad.mit.edu 37 1 228210491 228210491 + Missense_Mutation SNP C C A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr1:228210491C>A ENST00000284523.1 + 2 273 c.195C>A c.(193-195)agC>agA p.S65R WNT3A_ENST00000366753.2_Missense_Mutation_p.S65R NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 65 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) TCATGCCCAGCGTGGCCGAGG 0.652000 3 28 0.115264 0.115264 1 1 0 CNTN6 27255 broad.mit.edu 37 3 1371511 1371511 + Missense_Mutation SNP C C A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr3:1371511C>A ENST00000446702.2 + 11 1883 c.1256C>A c.(1255-1257)tCt>tAt p.S419Y CNTN6_ENST00000350110.2_Missense_Mutation_p.S419Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.S347Y Q9UQ52 CNTN6_HUMAN contactin 6 419 Ig-like C2-type 5. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAAAAAAAGTCTTTTGTTCAA 0.383000 24 41 1.1804e-14 1.28304e-14 1 1 0 TTLL5 23093 broad.mit.edu 37 14 76147908 76147908 + Missense_Mutation SNP A A G TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr14:76147908A>G ENST00000298832.9 + 4 407 c.202A>G c.(202-204)Aag>Gag p.K68E TTLL5_ENST00000557636.1_Missense_Mutation_p.K68E|TTLL5_ENST00000556977.1_Missense_Mutation_p.K68E|TTLL5_ENST00000286650.5_Missense_Mutation_p.K68E NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 68 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TTTGTCTTATAAGATTGTACG 0.343000 5 79 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105086325 105086325 + Splice_Site SNP G G C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr3:105086325G>C ENST00000306107.5 + 1 573 c.73_splice c.e1+1 p.G25_splice ALCAM_ENST00000472644.2_Splice_Site_p.G25_splice NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 25 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 CTTCAGGCCAGGTGAGCAAGG 0.652000 5 11 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76333274 76333274 + Splice_Site SNP G G T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr1:76333274G>T ENST00000263187.3 + 9 1409 c.e9+1 NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TCCTTTAAAGGTAATTTATGT 0.294000 Mismatch excision repair (MMR) 8 19 1.12685e-05 1.1738e-05 1 1 0 STAT4 6775 broad.mit.edu 37 2 191937909 191937909 + Missense_Mutation SNP A A G TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr2:191937909A>G ENST00000392320.2 - 5 694 c.380T>C c.(379-381)cTa>cCa p.L127P STAT4_ENST00000358470.4_Missense_Mutation_p.L127P NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 127 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GGATTTCTCTAGAGGCCCCTG 0.398000 49 58 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676840 100676840 + Missense_Mutation SNP A A T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr7:100676840A>T ENST00000306151.4 + 3 2207 c.2143A>T c.(2143-2145)Acc>Tcc p.T715S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 715 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTGTTGACACCAGCACACC 0.498000 5 328 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116446367 116446367 + Silent SNP T T C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr12:116446367T>C ENST00000281928.3 - 10 2057 c.1851A>G c.(1849-1851)ttA>ttG p.L617L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 617 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCCCACAATATAAGGCTGTCT 0.522000 18 11 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39521167 39521167 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr17:39521167C>T ENST00000251646.3 - 6 1010 c.961G>A c.(961-963)Gtg>Atg p.V321M NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 321 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TGGGACTCCACGTTGGTGATC 0.612000 5 46 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57109973 57109973 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr12:57109973C>T ENST00000454682.1 - 3 5622 c.5341G>A c.(5341-5343)Gtc>Atc p.V1781I NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V628I|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTAGGAAGGACCTTCTCAAAG 0.557000 T BCL6 NHL 13 15 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111146236 111146236 + Missense_Mutation SNP A A G TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr1:111146236A>G ENST00000485317.1 - 3 1842 c.1169T>C c.(1168-1170)gTg>gCg p.V390A KCNA2_ENST00000440270.1_Missense_Mutation_p.V390A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V390A|KCNA2_ENST00000369770.3_Intron P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 390 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) TAGGGAACCCACTATCTTTCC 0.517000 5 59 0 0 1 0 0 MS4A6A 64231 broad.mit.edu 37 11 59942906 59942906 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr11:59942906G>A ENST00000528851.1 - 5 658 c.518C>T c.(517-519)aCg>aTg p.T173M MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T173M|MS4A6A_ENST00000426738.2_Missense_Mutation_p.T128M|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T201M|MS4A6A_ENST00000530839.1_Missense_Mutation_p.T173M|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T201M Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 173 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATAGCAGTCCGTGGTATAAAG 0.368000 13 11 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100678519 100678519 + Missense_Mutation SNP A A C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr9:100678519A>C ENST00000375119.3 - 2 254 c.178T>G c.(178-180)Ttg>Gtg p.L60V C9orf156_ENST00000478126.1_Intron NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 60 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) CTAATCCTCAAACAGGCTCGA 0.408000 3 46 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151131069 151131069 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chrX:151131069C>T ENST00000370325.1 - 4 442 c.389G>A c.(388-390)cGc>cAc p.R130H GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.R130H P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 130 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GTAACAGAGGCGTTCGTCGTA 0.468000 34 6 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73953635 73953635 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr17:73953635C>T ENST00000537812.1 - 4 977 c.329G>A c.(328-330)cGa>cAa p.R110Q ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R148Q|ACOX1_ENST00000293217.5_Missense_Mutation_p.R148Q NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 148 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TTCCAAGCCTCGAAGGTGAGT 0.448000 21 22 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850219 14850219 + Silent SNP T T A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr18:14850219T>A ENST00000358984.4 + 35 3225 c.3045T>A c.(3043-3045)acT>acA p.T1015T NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1100 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 GCAGATTGACTTTAAATCAAG 0.284000 11 5 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120668 38120668 + Missense_Mutation SNP A A G TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr22:38120668A>G ENST00000406386.3 + 7 2360 c.2105A>G c.(2104-2106)cAa>cGa p.Q702R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 702 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TCCTGTGCCCAACGGGACGAT 0.582000 3 42 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34935916 34935916 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr19:34935916G>A ENST00000439527.2 + 8 871 c.373G>A c.(373-375)Gaa>Aaa p.E125K UBA2_ENST00000246548.4_Missense_Mutation_p.E221K Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 221 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GGAACCAACGGAAGCCGAAGC 0.363000 16 61 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236882229 236882229 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr1:236882229C>T ENST00000366578.4 + 3 443 c.277C>T c.(277-279)Cgg>Tgg p.R93W ACTN2_ENST00000542672.1_Missense_Mutation_p.R93W|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 93 Actin-binding.|CH 1. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GGGAAAAATGCGGTTCCACAA 0.483000 3 42 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 3 35 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111888850 111888850 + Missense_Mutation SNP A A T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr6:111888850A>T ENST00000368761.5 - 6 1814 c.1336T>A c.(1336-1338)Tgg>Agg p.W446R TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.W446R|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.W455R|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.W34R NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 455 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CGCTCCATCCATTTAATGATA 0.373000 23 31 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121758446 121758446 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr7:121758446G>A ENST00000393376.1 - 5 697 c.602C>T c.(601-603)gCt>gTt p.A201V AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A201V Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 201 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) TTCATAGCCAGCATCACGGAC 0.423000 3 61 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579447 55579447 + Missense_Mutation SNP T T C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr11:55579447T>C ENST00000333973.2 + 1 594 c.505T>C c.(505-507)Tat>Cat p.Y169H NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GATCCCCTTCTATAGATCTAA 0.453000 70 73 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 3 29 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140250402 140250402 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr5:140250402G>A ENST00000398640.2 + 1 1714 c.1714G>A c.(1714-1716)Gcg>Acg p.A572T PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTGGCAGCGCGGGAGGCGC 0.677000 11 117 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 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 4 60 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628301 29628301 + Silent SNP T T C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr20:29628301T>C ENST00000278882.3 + 6 683 c.303T>C c.(301-303)agT>agC p.S101S FRG1B_ENST00000358464.4_Silent_p.S101S|FRG1B_ENST00000439954.2_Silent_p.S106S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGCAAAAAGTAAAACAGCAG 0.353000 5 41 0 0 1 0 0 LGI4 163175 broad.mit.edu 37 19 35616120 35616120 + Missense_Mutation SNP G G C TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr19:35616120G>C ENST00000310123.3 - 9 2110 c.1591C>G c.(1591-1593)Cac>Gac p.H531D LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 531 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TCGATCTCGTGATGCTGGTAG 0.642000 5 39 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113331065 113331065 + Splice_Site SNP C C A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr8:113331065C>A ENST00000297405.5 - 47 7605 c.e47+1 CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCATTGAATACCTTGACAAAC 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 11 3.08376e-08 3.2806e-08 1 1 0 GLDC 2731 broad.mit.edu 37 9 6554737 6554737 + Silent SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr9:6554737G>A ENST00000321612.6 - 19 2397 c.2247C>T c.(2245-2247)caC>caT p.H749H NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 749 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GAAGATTTAGGTGCGAGACAT 0.557000 6 7 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 46 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151932975 151932975 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr7:151932975G>A ENST00000355193.2 - 16 2914 c.2696C>T c.(2695-2697)gCa>gTa p.A899V KMT2C_ENST00000262189.6_Missense_Mutation_p.A899V lysine (K)-specific methyltransferase 2C CGACAGTCCTGCACCTCGAGG 0.483000 6 68 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 6 45 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263027 34263027 + Missense_Mutation SNP C C T TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr19:34263027C>T ENST00000262622.3 + 4 1092 c.334C>T c.(334-336)Cgc>Tgc p.R112C CHST8_ENST00000438847.2_Missense_Mutation_p.R112C|CHST8_ENST00000434302.1_Missense_Mutation_p.R112C NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 112 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) CCAGCGCCGTCGCCGTCTGCT 0.711000 5 19 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28847368 28847368 + Missense_Mutation SNP G G A TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr16:28847368G>A ENST00000336783.4 + 22 3177 c.3010G>A c.(3010-3012)Gcg>Acg p.A1004T RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A1004T|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A1010T|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A1004T|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A1004T|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A1004T|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A1004T NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1004 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCCCCAAGGCGCGGTGCCCCA 0.706000 27 27 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 54 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122620180 122620180 + Frame_Shift_Del DEL G G - TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr12:122620180delG ENST00000319080.6 + 11 2131 c.1999delG c.(1999-2001)ggfs p.G668fs MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs Q9HAP2 MLXIP_HUMAN MLX interacting protein 668 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CCCGCTGCATGGGGGCAGCCC 0.677 2 4 --- --- --- --- PRPF8 10594 broad.mit.edu 37 17 1577185 1577216 + Splice_Site DEL ACCTACACCAGACCAGGTACACTGCTGAGGCC ACCTACACCAGACCAGGTACACTGCTGAGGCC - TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr17:1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC ENST00000572621.1 - 21 3565_3566 c.3299_splice c.e21-1 p.S1100_splice PRPF8_ENST00000304992.6_Splice_Site_p.S1100_splice Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1100 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCTGCTGTGAACCTACACCAGACCAGGTACACTGCTGAGGCCCCAGTACACT 0.530 8 56 --- --- --- --- CTD-2206N4.4 0 broad.mit.edu 37 17 37213525 37213526 + RNA INS - - TTTTG rs59291335 TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chr17:37213525_37213526insTTTTG ENST00000583447.1 + 0 141 NR_036551.1 CTGAAGGACTCttttttttttt 0.550 2 4 --- --- --- --- HDAC6 10013 broad.mit.edu 37 X 48673084 48673084 + Frame_Shift_Del DEL G G - TCGA-YL-A9WL-01A-11D-A41K-08 TCGA-YL-A9WL-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc2626e6-65db-4905-97c5-46d61ea9e208 9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536 g.chrX:48673084delG ENST00000334136.5 + 12 1114 c.936delG c.(934-936)gtfs p.V312fs HDAC6_ENST00000413163.2_Frame_Shift_Del_p.V257fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.V312fs|HDAC6_ENST00000444343.2_Frame_Shift_Del_p.V326fs Q9UBN7 HDAC6_HUMAN histone deacetylase 6 312 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GTCTGCAGGTGGGGATGCGGG 0.642 2 4 --- --- --- ---