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 ANXA4 307 broad.mit.edu 37 2 70045734 70045734 + Missense_Mutation SNP T T G TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr2:70045734T>G ENST00000394295.4 + 10 880 c.632T>G c.(631-633)tTt>tGt p.F211C ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C|ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 209 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 TCTGCAGTGTTTGATGAATAC 0.333 6 76 --- --- --- --- UGT1A1 54658 broad.mit.edu 37 2 234527191 234527191 + Nonsense_Mutation SNP G G T TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr2:234527191G>T ENST00000373450.4 + 1 901 c.838G>T c.(838-840)Gga>Tga p.G280* NM_019076.4 NP_061949.3 P22309 UD11_HUMAN bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTGCCATCAGGGAAAGCCATT 0.403 13 270 --- --- --- --- SLC6A20 54716 broad.mit.edu 37 3 45812921 45812921 + Missense_Mutation SNP C C A TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr3:45812921C>A ENST00000358525.4 - 6 838 c.723G>T c.(721-723)tgG>tgT p.W241C SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C|SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 241 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CTGCATTGATCCAGGCCTTGG 0.587 4 45 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50005401 50005401 + Silent SNP T T C TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr3:50005401T>C ENST00000443081.1 + 3 1066 c.147T>C c.(145-147)taT>taC p.Y49Y RBM6_ENST00000266022.4_Silent_p.Y181Y|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 181 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGGGCACTTATGATTTAGATT 0.498 6 53 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85758212 85758212 + Missense_Mutation SNP A A G TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr4:85758212A>G ENST00000322366.6 - 7 853 c.446T>C c.(445-447)gTg>gCg p.V149A WDFY3_ENST00000295888.4_Missense_Mutation_p.V149A Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 149 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGTGGAAGGCACTGACATTGT 0.413 6 45 --- --- --- --- COQ3 51805 broad.mit.edu 37 6 99817564 99817564 + Missense_Mutation SNP G G A TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr6:99817564G>A ENST00000254759.3 - 7 1046 c.1022C>T c.(1021-1023)tCt>tTt p.S341F COQ3_ENST00000369240.1_Missense_Mutation_p.S113F|COQ3_ENST00000369242.1_Missense_Mutation_p.S113F NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 341 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) AAACTCAGCAGAGGCTGGGTG 0.453 21 151 --- --- --- --- PEX3 8504 broad.mit.edu 37 6 143780272 143780272 + Nonsense_Mutation SNP G G T TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr6:143780272G>T ENST00000367591.4 + 2 187 c.124G>T c.(124-126)Gaa>Taa p.E42* NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 42 Targeting to peroxisomes. protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) AGAAATACAGGAAAGGGAGGC 0.348 6 62 --- --- --- --- ABTB2 25841 broad.mit.edu 37 11 34186310 34186310 + Missense_Mutation SNP C C A TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr11:34186310C>A ENST00000435224.2 - 9 2335 c.1911G>T c.(1909-1911)atG>atT p.M637I ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 451 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GGGCCTCCAGCATGCTGAGGA 0.627 3 34 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40901385 40901385 + Silent SNP C C T TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr19:40901385C>T ENST00000324001.7 - 7 3144 c.2874G>A c.(2872-2874)aaG>aaA p.K958K PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 958 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ATTTGGATACCTTCAGCTTGG 0.607 13 130 --- --- --- --- SERPIND1 3053 broad.mit.edu 37 22 21141285 21141285 + Missense_Mutation SNP C C G TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr22:21141285C>G ENST00000215727.5 + 5 1714 c.1431C>G c.(1429-1431)ttC>ttG p.F477L SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 477 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CCTTTCTTTTCCTCATCTACG 0.592 11 78 --- --- --- --- KRTAP19-3 337970 broad.mit.edu 37 21 31864115 31864115 + Frame_Shift_Del DEL C C - TCGA-EJ-A46D-01A-21D-A257-08 TCGA-EJ-A46D-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bfa7723-1fe3-42f2-8575-70305679ac12 35d8332c-f08f-40f6-9484-3b17a3081894 g.chr21:31864115delC ENST00000334063.4 - 1 160 c.161delG c.(160-162)ggafs p.G54fs NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 54 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 AGAGCCATATCCATAGCCTCC 0.537 8 343 --- --- --- ---