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 OAS3 4940 broad.mit.edu 37 12 113384760 113384760 + Silent SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr12:113384760C>T ENST00000228928.7 + 4 1028 c.849C>T c.(847-849)ttC>ttT p.F283F RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000546638.1_3'UTR NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 283 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TTGGGCAGTTCTTGCAGCGGC 0.557000 5 27 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 87 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169837159 169837159 + Missense_Mutation SNP T T G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr4:169837159T>G ENST00000335742.7 + 17 3663 c.2306T>G c.(2305-2307)cTc>cGc p.L769R CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.L440R|PALLD_ENST00000505667.1_Missense_Mutation_p.L944R|PALLD_ENST00000261509.6_Missense_Mutation_p.L927R|PALLD_ENST00000512127.1_Missense_Mutation_p.L545R Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 1151 Interaction with EPS8 (By similarity).|Pro-rich. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAAGGAAAACTCTGCAGAATG 0.443000 Pancreatic Cancer, Familial Clustering of 11 36 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70526134 70526134 + Missense_Mutation SNP A A T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr18:70526134A>T ENST00000327305.6 - 4 1053 c.396T>A c.(394-396)ttT>ttA p.F132L NETO1_ENST00000583169.1_Missense_Mutation_p.F132L|NETO1_ENST00000397929.1_Missense_Mutation_p.F131L|NETO1_ENST00000299430.2_Missense_Mutation_p.F131L|NETO1_ENST00000580049.1_5'UTR NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 132 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TAATCCATAGAAATCTTCCAC 0.348000 21 72 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789374 80789374 + Silent SNP G G A rs141585758 TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr17:80789374G>A ENST00000269394.3 - 2 1790 c.957C>T c.(955-957)taC>taT p.Y319Y ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 319 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGTAAAATCCGTAAGGAATCG 0.537000 4 175 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228172604 228172604 + Silent SNP A A G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr2:228172604A>G ENST00000396578.3 + 48 4593 c.4431A>G c.(4429-4431)caA>caG p.Q1477Q AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1477 Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TTTTTGTACAAGGAAATCAAC 0.473000 10 34 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5140517 5140517 + Missense_Mutation SNP T T C TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr16:5140517T>C ENST00000427587.4 - 5 460 c.392A>G c.(391-393)tAc>tGc p.Y131C FAM86A_ENST00000587133.1_Missense_Mutation_p.Y70C|FAM86A_ENST00000458008.4_Missense_Mutation_p.Y97C NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 131 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TGTGGTACCGTAGGAGATGAT 0.617000 11 72 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129807533 129807533 + Silent SNP C C A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr11:129807533C>A ENST00000358825.5 - 8 1230 c.999G>T c.(997-999)gtG>gtT p.V333V PRDM10_ENST00000526082.1_Silent_p.V247V|PRDM10_ENST00000304538.6_Silent_p.V247V|PRDM10_ENST00000360871.3_Silent_p.V333V|PRDM10_ENST00000528746.1_Silent_p.V307V|PRDM10_ENST00000423662.2_Silent_p.V247V NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TTTTCTGGTTCACGAACTCAG 0.363000 7 32 0.0381472 0.0381472 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72832434 72832434 + Nonsense_Mutation SNP C C A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr16:72832434C>A ENST00000268489.5 - 9 4819 c.4147G>T c.(4147-4149)Gaa>Taa p.E1383* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E469* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1383 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCATGCACTTCATTAAAATGC 0.502000 18 33 5.03518e-11 5.28694e-11 1 1 0 EIF5A 1984 broad.mit.edu 37 17 7214340 7214340 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr17:7214340C>T ENST00000336458.8 + 3 570 c.169C>T c.(169-171)Cat>Tat p.H57Y EIF5A_ENST00000571955.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000416016.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000572815.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000419711.2_Missense_Mutation_p.H57Y|EIF5A_ENST00000576930.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000573542.1_Missense_Mutation_p.H57Y|EIF5A_ENST00000336452.7_Missense_Mutation_p.H87Y NM_001970.4 NP_001961.1 P63241 IF5A1_HUMAN eukaryotic translation initiation factor 5A 57 DOHH-binding. induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1) 6 CATACAGGTCCATCTGGTTGG 0.403000 9 74 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10933879 10933879 + Missense_Mutation SNP C C T rs149228869 TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr21:10933879C>T ENST00000298232.7 - 16 1313 c.946G>A c.(946-948)Gta>Ata p.V316I TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.V334I|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 334 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGAATCGCTACGATGTTTTCA 0.313000 19 280 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30884915 30884915 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr6:30884915C>T ENST00000321897.5 + 8 1419 c.787C>T c.(787-789)Cgg>Tgg p.R263W VARS2_ENST00000542001.1_Missense_Mutation_p.R123W|VARS2_ENST00000541562.1_Missense_Mutation_p.R293W|VARS2_ENST00000416670.2_Missense_Mutation_p.R263W Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 263 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity p.R263W(1) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 AGCTTTTGTGCGGCTCTACAA 0.557000 4 100 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59210668 59210668 + Silent SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr11:59210668C>T ENST00000302030.2 + 1 52 c.27C>T c.(25-27)agC>agT p.S9S NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CCTGGAACAGCTCATCAGTGA 0.507000 8 34 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235887435 235887435 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr1:235887435C>T ENST00000389794.3 - 39 9382 c.9208G>A c.(9208-9210)Gaa>Aaa p.E3070K LYST_ENST00000389793.2_Missense_Mutation_p.E3070K|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3070 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) TTAATTTCTTCATATGTCCAG 0.353000 10 46 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76828505 76828505 + Silent SNP T T A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr7:76828505T>A ENST00000248598.5 - 1 638 c.606A>T c.(604-606)tcA>tcT p.S202S CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 202 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TACCTGGACGTGACTGTATTT 0.318000 7 55 0 0 1 0 0 VEPH1 79674 broad.mit.edu 37 3 157081476 157081476 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr3:157081476C>T ENST00000362010.2 - 9 1719 c.1412G>A c.(1411-1413)gGa>gAa p.G471E VEPH1_ENST00000392832.2_Missense_Mutation_p.G471E|VEPH1_ENST00000392833.2_Missense_Mutation_p.G471E|VEPH1_ENST00000543418.1_Missense_Mutation_p.G471E|RP11-550I24.2_ENST00000487238.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 471 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TGGTATGTCTCCCCTGTTTTC 0.468000 12 64 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42598785 42598785 + Silent SNP A A G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr15:42598785A>G ENST00000318010.8 + 7 840 c.600A>G c.(598-600)ggA>ggG p.G200G GANC_ENST00000566442.1_Silent_p.G200G NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 200 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGAAATTTGGAAAATTTGTGG 0.328000 5 24 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41075904 41075904 + Splice_Site SNP C C T rs146661515 by1000genomes TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chrX:41075904C>T ENST00000324545.7 + 35 6717 c.6085_splice c.e35+1 p.P2028_splice USP9X_ENST00000378308.2_Splice_Site_p.P2028_splice NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2028 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ACCCTCCTCCCGGTGAGTATC 0.323000 9 15 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306299 2306299 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr4:2306299C>T ENST00000290974.2 - 8 2107 c.1768G>A c.(1768-1770)Gtc>Atc p.V590I RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V520I|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V560I NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 590 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 GCACCAATGACGCCTCCCGGG 0.667000 4 19 0 0 1 0 0 MAOB 4129 broad.mit.edu 37 X 43652801 43652801 + Missense_Mutation SNP G G C TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chrX:43652801G>C ENST00000378069.4 - 8 940 c.793C>G c.(793-795)Cct>Gct p.P265A MAOB_ENST00000538942.1_Missense_Mutation_p.P249A|MAOB_ENST00000536181.1_Missense_Mutation_p.P249A NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B 265 xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) AGAGTAGGAGGAATAGCACTA 0.408000 12 15 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17314696 17314696 + Silent SNP G G A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr1:17314696G>A ENST00000452699.1 - 25 2970 c.2781C>T c.(2779-2781)agC>agT p.S927S RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.S888S|ATP13A2_ENST00000326735.8_Silent_p.S932S NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 932 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) ACTTGAAGACGCTGAACGAAG 0.607000 9 30 0 0 1 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 3 21 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079477 38079477 + Missense_Mutation SNP C C T rs143117795 by1000genomes TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr1:38079477C>T ENST00000356545.2 - 7 1311 c.524G>A c.(523-525)cGg>cAg p.R175Q RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.R148Q|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.R175Q|RSPO1_ENST00000401069.1_Missense_Mutation_p.R175Q NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 175 TSP type-1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCTGCGTGTCCGCTCCTCGGA 0.637000 8 49 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67384185 67384185 + Missense_Mutation SNP T T C TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr16:67384185T>C ENST00000329956.6 + 5 588 c.569T>C c.(568-570)aTt>aCt p.I190T LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.I69T|LRRC36_ENST00000435835.3_Missense_Mutation_p.I69T NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 190 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GACAGCAGGATTGAAATGGGT 0.378000 14 77 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51009808 51009808 + Missense_Mutation SNP A A C TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr22:51009808A>C ENST00000360719.2 - 14 1873 c.1736T>G c.(1735-1737)tTc>tGc p.F579C CPT1B_ENST00000440709.1_Missense_Mutation_p.F498C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.F545C|CPT1B_ENST00000405237.3_Missense_Mutation_p.F579C|CPT1B_ENST00000434492.2_Missense_Mutation_p.F374C|CPT1B_ENST00000395650.2_Missense_Mutation_p.F579C|CPT1B_ENST00000312108.7_Missense_Mutation_p.F579C NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 579 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TCCTACCCGGAAGTGAGCCAG 0.602000 16 55 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887677 12887677 + Silent SNP A A G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr1:12887677A>G ENST00000535591.1 - 3 375 c.180T>C c.(178-180)ctT>ctC p.L60L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 60 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CCAGCACTTGAAGTTTCCATC 0.463000 4 186 0 0 1 0 0 KIAA1430 57587 broad.mit.edu 37 4 186085310 186085310 + Silent SNP G G A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr4:186085310G>A ENST00000458385.2 - 4 1463 c.1344C>T c.(1342-1344)gcC>gcT p.A448A NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 448 endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TTGGTTTCACGGCCTCAAGCC 0.393000 7 26 0 0 1 0 0 ZFP3 124961 broad.mit.edu 37 17 4996197 4996197 + Missense_Mutation SNP A A G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr17:4996197A>G ENST00000318833.3 + 2 1734 c.1398A>G c.(1396-1398)atA>atG p.I466M NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 AACTTATCATACATCAGAGAA 0.423000 10 48 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56527593 56527593 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr12:56527593C>T ENST00000394048.5 + 13 1673 c.1409C>T c.(1408-1410)tCt>tTt p.S470F ESYT1_ENST00000267113.4_Missense_Mutation_p.S470F|ESYT1_ENST00000541590.1_Missense_Mutation_p.S470F NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 470 C2 2. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GGAGTCTCCTCTCGACCAGAT 0.552000 6 72 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 18 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181721292 181721292 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr1:181721292C>T ENST00000526775.1 + 26 3853 c.3688C>T c.(3688-3690)Cgg>Tgg p.R1230W CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1181W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1249W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R856W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1230W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1200W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1249W NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1249 Poly-Val. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CAACAAAGGACGGGACATCAA 0.483000 8 53 0 0 1 0 0 GTF2H3 2967 broad.mit.edu 37 12 124139496 124139496 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr12:124139496C>T ENST00000543341.2 + 8 543 c.512C>T c.(511-513)gCg>gTg p.A171V GTF2H3_ENST00000228955.7_Missense_Mutation_p.A130V NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 171 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) GAAGACAGTGCGTTGCAGTAT 0.428000 Nucleotide excision repair (NER) 15 46 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124358571 124358571 + Missense_Mutation SNP C C T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr10:124358571C>T ENST00000368909.3 + 26 3344 c.3238C>T c.(3238-3240)Cac>Tac p.H1080Y DMBT1_ENST00000344338.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.H581Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H581Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1070Y|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1080Y NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1080 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTGGCTCTCCCACAACTGTGG 0.567000 25 111 0 0 1 0 0 IFNLR1 163702 broad.mit.edu 37 1 24483789 24483789 + Missense_Mutation SNP G G A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr1:24483789G>A ENST00000327535.1 - 7 1406 c.1394C>T c.(1393-1395)cCc>cTc p.P465L IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P436L NM_170743.3|NM_173064.2 NP_734464.1|NP_775087.1 interferon, lambda receptor 1 AGAAACTGGGGGTCCCCCAGG 0.597000 12 67 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217347605 217347605 + Missense_Mutation SNP G G A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr2:217347605G>A ENST00000357276.4 + 18 3100 c.2770G>A c.(2770-2772)Gac>Aac p.D924N AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D924N NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 924 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GAACATGGGAGACACCCTGGA 0.468000 Schimke Immuno-Osseous Dysplasia 27 97 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12257790 12257790 + Missense_Mutation SNP G G A TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr11:12257790G>A ENST00000256194.4 + 16 2350 c.2062G>A c.(2062-2064)Gag>Aag p.E688K MICAL2_ENST00000527546.1_Missense_Mutation_p.E688K|MICAL2_ENST00000342902.5_Missense_Mutation_p.E688K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E688K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E688K NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 688 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CAACCTGGACGAGGTTTGTGT 0.552000 OREG0020771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 43 0 0 1 0 0 RP11-167H9.4 0 broad.mit.edu 37 3 149769406 149769407 + RNA INS - - C TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr3:149769406_149769407insC ENST00000487840.1 + 0 46 caagcaattctctgcctcagcc 0.515 2 4 --- --- --- --- RP11-53I6.2 0 broad.mit.edu 37 18 29656287 29656288 + RNA INS - - T TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr18:29656287_29656288insT ENST00000583184.1 + 0 539 ttgtttttttgttttttttttg 0.441 2 4 --- --- --- --- TCF3 6929 broad.mit.edu 37 19 1611797 1611797 + Frame_Shift_Del DEL T T - TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr19:1611797delT ENST00000262965.5 - 19 2218 c.1874delA c.(1873-1875)agfs p.K625fs TCF3_ENST00000588136.1_Frame_Shift_Del_p.K622fs|TCF3_ENST00000344749.5_Frame_Shift_Del_p.K622fs|TCF3_ENST00000453954.2_Frame_Shift_Del_p.K537fs|TCF3_ENST00000395423.3_Frame_Shift_Del_p.K629fs NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 625 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGACACCTTTTCCTCTTC 0.607 T """PBX1, HLF, TFPT""" pre B-ALL 21 57 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-V1-A9ZG-01A-11D-A41K-08 TCGA-V1-A9ZG-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 463bc174-d782-4e0f-b8ab-e424b330c7f7 05454125-24ef-4c09-b1e9-71cd7a15a98e g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 4 4 --- --- --- ---