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 RNF207 388591 broad.mit.edu 37 1 6270283 6270283 + Splice_Site SNP C C G TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr1:6270283C>G ENST00000377939.4 + 9 928 c.801C>G c.(799-801)agC>agG p.S267R RNF207_ENST00000377948.2_Splice_Site_p.S40R NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 267 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CCTCCCCCAGCCAATACGAAG 0.667 16 44 --- --- --- --- OR2AK2 391191 broad.mit.edu 37 1 248129463 248129463 + Missense_Mutation SNP C C A TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr1:248129463C>A ENST00000366480.3 + 1 929 c.830C>A c.(829-831)cCa>cAa p.P277Q OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TACACAAGGCCACACTCCTTG 0.483 3 42 --- --- --- --- ZNF197 10168 broad.mit.edu 37 3 44684197 44684197 + Silent SNP C C T TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr3:44684197C>T ENST00000396058.1 + 5 1742 c.1575C>T c.(1573-1575)ctC>ctT p.L525L ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.L525L|ZNF197_ENST00000383745.2_Intron O14709 ZN197_HUMAN zinc finger protein 197 525 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AGAAGAGCCTCATTCTGCACC 0.423 17 101 --- --- --- --- QARS 5859 broad.mit.edu 37 3 49140801 49140801 + Missense_Mutation SNP T T C TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr3:49140801T>C ENST00000306125.6 - 5 830 c.493A>G c.(493-495)Atc>Gtc p.I165V QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 165 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) TCATTCTTGATCATTTTGCCA 0.507 14 84 --- --- --- --- NOP16 51491 broad.mit.edu 37 5 175815433 175815433 + Splice_Site SNP C C G TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr5:175815433C>G ENST00000389158.5 - 1 543 c.e1+1 NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein nucleolus central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 8 AGCCCCCTCACCATTCGATCC 0.642 20 88 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75860932 75860932 + Missense_Mutation SNP C C T TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr6:75860932C>T ENST00000322507.8 - 21 4381 c.4072G>A c.(4072-4074)Gtg>Atg p.V1358M COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1358 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAATCTGCCACATTGTATGCA 0.363 25 82 --- --- --- --- UFL1 23376 broad.mit.edu 37 6 96988523 96988523 + Missense_Mutation SNP A A G TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr6:96988523A>G ENST00000369278.4 + 11 1337 c.1271A>G c.(1270-1272)aAa>aGa p.K424R NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 424 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity CGAAGAAGGAAAGCAACAGGT 0.328 3 13 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55542393 55542393 + Missense_Mutation SNP C C T TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr8:55542393C>T ENST00000220676.1 + 4 6099 c.5951C>T c.(5950-5952)gCc>gTc p.A1984V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1984 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATTGATAATGCCATTGGTGAT 0.308 6 19 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20448194 20448194 + Missense_Mutation SNP T T C TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr9:20448194T>C ENST00000380338.4 - 4 633 c.347A>G c.(346-348)cAc>cGc p.H116R MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) ACAGCGGAGGTGATTCACTGG 0.438 T MLL ALL 25 109 --- --- --- --- HSPA12A 259217 broad.mit.edu 37 10 118466766 118466766 + Missense_Mutation SNP G G T TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr10:118466766G>T ENST00000369209.3 - 2 175 c.71C>A c.(70-72)cCa>cAa p.P24Q NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 24 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) ACTCCGGGCTGGAGATGAATA 0.522 3 20 --- --- --- --- MOAP1 64112 broad.mit.edu 37 14 93649656 93649656 + Missense_Mutation SNP A A C TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr14:93649656A>C ENST00000556883.1 - 2 1416 c.932T>G c.(931-933)cTt>cGt p.L311R MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 311 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) tggcagattaagctctctgcg 0.517 16 97 --- --- --- --- TRIP10 9322 broad.mit.edu 37 19 6743805 6743805 + Silent SNP C C T TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr19:6743805C>T ENST00000600428.1 + 7 922 c.276C>T c.(274-276)gaC>gaT p.D92D TRIP10_ENST00000596758.1_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000313244.9_Silent_p.D200D Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 200 Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 TCAACCGAGACCAAGCCCACT 0.507 19 72 --- --- --- --- BACE2 25825 broad.mit.edu 37 21 42615330 42615330 + Missense_Mutation SNP T T A TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chr21:42615330T>A ENST00000347667.5 + 5 1238 c.775T>A c.(775-777)Tat>Aat p.Y259N BACE2_ENST00000330333.6_Missense_Mutation_p.Y259N|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N NM_138991.1 NP_620476.1 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) ACCAAGTTTGTATAAAGGAGA 0.388 8 39 --- --- --- --- CLCN4 1183 broad.mit.edu 37 X 10176202 10176202 + Missense_Mutation SNP G G A TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chrX:10176202G>A ENST00000380833.4 + 9 1352 c.961G>A c.(961-963)Gtg>Atg p.V321M CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 321 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCTCTTTTATGTGGAATACCA 0.542 37 60 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70348454 70348454 + Missense_Mutation SNP G G T TCGA-EJ-7792-01A-11D-2114-08 TCGA-EJ-7792-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2903d109-d1bb-4545-a90a-81a3d8d62406 c6995bd6-51d1-4786-9c0a-e4aebe984d5f g.chrX:70348454G>T ENST00000333646.6 + 24 3560 c.3361G>T c.(3361-3363)Gac>Tac p.D1121Y MED12_ENST00000374080.3_Missense_Mutation_p.D1121Y|MED12_ENST00000374102.1_Missense_Mutation_p.D1121Y NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1121 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCAGGTCAGTGACCTATCTTT 0.532 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 --- --- --- ---