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 HIVEP3 59269 broad.mit.edu 37 1 41978662 41978662 + Missense_Mutation SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr1:41978662G>A ENST00000372584.1 - 7 7244 c.6230C>T c.(6229-6231)gCc>gTc p.A2077V HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2077 6 X 4 AA tandem repeats of S-P-X-[RK]. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGGTGACTCGGCCTGACCTGG 0.687 3 43 --- --- --- --- KIRREL 55243 broad.mit.edu 37 1 158057909 158057909 + Missense_Mutation SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr1:158057909G>T ENST00000368172.1 + 3 287 c.275G>T c.(274-276)gGa>gTa p.G92V KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 294 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) AACAAAGTGGGAAGCACCAAT 0.522 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 253 --- --- --- --- CAMKMT 79823 broad.mit.edu 37 2 44933479 44933479 + Splice_Site SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr2:44933479T>G ENST00000378494.3 + 5 535 c.491T>G c.(490-492)aTg>aGg p.M164R NM_024766.4 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 164 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 GCTGGGCTCATGGTAGGTCTT 0.483 5 155 --- --- --- --- CLIC1 1192 broad.mit.edu 37 6 31701956 31701956 + Missense_Mutation SNP T T G TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr6:31701956T>G ENST00000375780.2 - 3 696 c.124A>C c.(124-126)Aat>Cat p.N42H CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H|CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H O00299 CLIC1_HUMAN chloride intracellular channel 1 42 Required for insertion into the membrane. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GTGGTAACATTGAAGGTGACT 0.517 3 63 --- --- --- --- RFX6 222546 broad.mit.edu 37 6 117248236 117248236 + Silent SNP C C A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr6:117248236C>A ENST00000332958.2 + 17 1948 c.1932C>A c.(1930-1932)ccC>ccA p.P644P NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 644 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGACACCACCCATTTCTCCAG 0.488 5 182 --- --- --- --- PPP3CC 5533 broad.mit.edu 37 8 22368644 22368644 + Missense_Mutation SNP C C A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr8:22368644C>A ENST00000240139.5 + 5 857 c.530C>A c.(529-531)aCa>aAa p.T177K PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K|PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 177 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) TGTATGGAGACATTTGACTGT 0.383 5 122 --- --- --- --- NUDT2 318 broad.mit.edu 37 9 34343327 34343327 + Silent SNP C C T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr9:34343327C>T ENST00000379158.2 + 5 691 c.333C>T c.(331-333)caC>caT p.H111H NUDT2_ENST00000379155.5_Silent_p.H111H|NUDT2_ENST00000346365.4_Silent_p.H111H NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 111 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CCCATGAGCACCAAGCCTACC 0.557 4 94 --- --- --- --- HIF1AN 55662 broad.mit.edu 37 10 102306905 102306905 + Silent SNP C C A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr10:102306905C>A ENST00000299163.6 + 7 1003 c.903C>A c.(901-903)ccC>ccA p.P301P NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor Interaction with HIF1A.|Interaction with VHL.|JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) AGGGGGCTCCCACCCCTAAGA 0.478 3 28 --- --- --- --- UBQLNL 143630 broad.mit.edu 37 11 5536505 5536505 + Silent SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr11:5536505G>T ENST00000380184.1 - 1 1430 c.1167C>A c.(1165-1167)acC>acA p.T389T HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 389 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GAAGCTGCTGGGTAAGCTCTA 0.502 5 159 --- --- --- --- MGAT5B 146664 broad.mit.edu 37 17 74900388 74900388 + Missense_Mutation SNP G G T TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr17:74900388G>T ENST00000569840.2 + 6 1148 c.574G>T c.(574-576)Ggc>Tgc p.G192C MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.G203C|MGAT5B_ENST00000301618.4_Missense_Mutation_p.G192C NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 192 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGGGGTGGACGGCACCGAGTG 0.682 3 17 --- --- --- --- IL2RB 3560 broad.mit.edu 37 22 37524348 37524348 + Silent SNP G G A TCGA-G9-6353-01A-11D-1961-08 TCGA-G9-6353-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8b6ecad-0b33-446c-b7f5-6ad7a95ca260 8c34b0c6-72f2-4a77-a188-e4148283941d g.chr22:37524348G>A ENST00000216223.5 - 10 1642 c.1444C>T c.(1444-1446)Ctg>Ttg p.L482L NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 482 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) AAATCCACCAGGTCTGGGACT 0.662 5 73 --- --- --- ---