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 DNAJC5G 285126 broad.mit.edu 37 2 27501192 27501192 + Nonsense_Mutation SNP C C T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr2:27501192C>T ENST00000406962.1 + 3 415 c.250C>T c.(250-252)Caa>Taa p.Q84* DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P171L|DNAJC5G_ENST00000296097.3_Missense_Mutation_p.P171L|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P155L Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 gamma 0 J. protein folding membrane heat shock protein binding|unfolded protein binding cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTCAGCCTCCAAGGTCAGGT 0.478000 13 19 0 0 1 0 0 RP11-464F9.1 0 broad.mit.edu 37 10 75487081 75487081 + RNA SNP C C T rs7099599 by1000genomes TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr10:75487081C>T ENST00000399449.3 - 0 396 BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA CCTCTGATCTCGGTCAACTTC 0.517000 5 112 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50244662 50244662 + Missense_Mutation SNP T T C rs148686027 by1000genomes TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr14:50244662T>C ENST00000298307.5 + 4 1318 c.457T>C c.(457-459)Tat>Cat p.Y153H KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Missense_Mutation_p.Y153H|KLHDC2_ENST00000554589.1_Missense_Mutation_p.Y153H NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 153 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TGTCTGGGTATATAAAAACAA 0.403000 5 53 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205554106 205554106 + Missense_Mutation SNP C C T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr1:205554106C>T ENST00000367147.4 + 5 1055 c.962C>T c.(961-963)aCg>aTg p.T321M MFSD4_ENST00000536357.1_Missense_Mutation_p.T234M|MFSD4_ENST00000539267.1_Missense_Mutation_p.T321M NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 321 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CTGTTCATGACGGATGGGTTG 0.587000 OREG0014158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 64 0 0 1 0 0 RP11-85K15.2 0 broad.mit.edu 37 14 35409214 35409214 + RNA SNP T T C rs1967723 by1000genomes TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr14:35409214T>C ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA CAACTTCTAATTCATCTCGCC 0.448000 4 65 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57797761 57797761 + Missense_Mutation SNP A A G TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr4:57797761A>G ENST00000309042.7 + 4 3051 c.2737A>G c.(2737-2739)Atc>Gtc p.I913V NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 913 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) TGCTGCTAATATCAACGAATC 0.413000 23 47 0 0 1 0 0 CSDE1 7812 broad.mit.edu 37 1 115276367 115276367 + Missense_Mutation SNP G G A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr1:115276367G>A ENST00000438362.2 - 9 1339 c.961C>T c.(961-963)Ccc>Tcc p.P321S CSDE1_ENST00000358528.4_Missense_Mutation_p.P275S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P244S|CSDE1_ENST00000534699.1_Missense_Mutation_p.P275S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P290S|CSDE1_ENST00000530886.1_Missense_Mutation_p.P145S|CSDE1_ENST00000339438.6_Missense_Mutation_p.P244S NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 275 CSD 4; truncated. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTTACTGGGTACTTTTGGG 0.348000 11 18 0 0 1 0 0 CSDE1 7812 broad.mit.edu 37 1 115276368 115276368 + Silent SNP T T A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr1:115276368T>A ENST00000438362.2 - 9 1338 c.960A>T c.(958-960)gtA>gtT p.V320V CSDE1_ENST00000358528.4_Silent_p.V274V|CSDE1_ENST00000261443.5_Silent_p.V243V|CSDE1_ENST00000534699.1_Silent_p.V274V|CSDE1_ENST00000369530.1_Silent_p.V289V|CSDE1_ENST00000530886.1_Silent_p.V144V|CSDE1_ENST00000339438.6_Silent_p.V243V NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 274 CSD 4; truncated. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTACTGGGTACTTTTGGGA 0.343000 11 17 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71098922 71098922 + Silent SNP T T C TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr9:71098922T>C ENST00000396396.1 + 9 1666 c.1437T>C c.(1435-1437)ttT>ttC p.F479F NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 479 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 CGGATAGTTTTGAATACGTGG 0.517000 4 91 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80529730 80529730 + Missense_Mutation SNP C C T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr17:80529730C>T ENST00000335255.5 + 4 1067 c.893C>T c.(892-894)gCg>gTg p.A298V NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 298 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TACAGGACTGCGGACAAGGGC 0.488000 13 23 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627394 43627394 + Silent SNP G G A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr9:43627394G>A ENST00000332857.6 - 4 1321 c.1293C>T c.(1291-1293)gcC>gcT p.A431A NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.A431A(1) CAGTTACCCAGGCGTTAGCCA 0.488000 6 149 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42799804 42799804 + Missense_Mutation SNP G G A rs113601691 TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr3:42799804G>A ENST00000310232.6 - 2 117 c.34C>T c.(34-36)Cgg>Tgg p.R12W CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 12 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 AACTGGAGCCGCAAAGTGTTC 0.507000 3 49 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120003514 120003514 + Missense_Mutation SNP G G A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr2:120003514G>A ENST00000354888.5 + 3 946 c.442G>A c.(442-444)Gtc>Atc p.V148I STEAP3_ENST00000393107.2_Missense_Mutation_p.V148I|STEAP3_ENST00000450943.2_Missense_Mutation_p.V148I|STEAP3_ENST00000409811.1_Missense_Mutation_p.V148I|STEAP3_ENST00000425223.2_Missense_Mutation_p.V148I|STEAP3_ENST00000393110.2_Missense_Mutation_p.V158I|STEAP3_ENST00000393108.2_Missense_Mutation_p.V148I|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.V148I NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 148 apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GGCCTTCAATGTCATCTCTGC 0.522000 30 61 0 0 1 0 0 MTF2 22823 broad.mit.edu 37 1 93581066 93581066 + Missense_Mutation SNP T T G TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr1:93581066T>G ENST00000370298.4 + 6 812 c.523T>G c.(523-525)Ttg>Gtg p.L175V MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Missense_Mutation_p.L73V|MTF2_ENST00000370303.4_Missense_Mutation_p.L175V|MTF2_ENST00000540243.1_Missense_Mutation_p.L73V NM_001164392.1|NM_007358.3 NP_001157864.1|NP_031384.1 Q9Y483 MTF2_HUMAN metal response element binding transcription factor 2 175 nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) TGCCAAAGCATTGCAAGTCAT 0.408000 12 33 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17565186 17565186 + Missense_Mutation SNP G G A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr1:17565186G>A ENST00000375471.4 + 13 1626 c.1534G>A c.(1534-1536)Gag>Aag p.E512K PADI1_ENST00000536552.1_5'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.E69K|PADI1_ENST00000413717.2_Missense_Mutation_p.E69K NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 512 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGGTTATGGGGAGGCAGCCCA 0.607000 7 6 0 0 1 0 0 TBCEL 219899 broad.mit.edu 37 11 120916496 120916496 + Missense_Mutation SNP C C A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr11:120916496C>A ENST00000422003.2 + 2 285 c.97C>A c.(97-99)Cat>Aat p.H33N TBCEL_ENST00000529397.1_Missense_Mutation_p.H33N NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 33 cytoplasm|cytoskeleton TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) GATGGGAGTCCATGTCCCAGC 0.428000 8 46 7.48243e-07 7.86614e-07 1 1 0 GIMAP5 55340 broad.mit.edu 37 7 150439701 150439701 + Silent SNP C C T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr7:150439701C>T ENST00000358647.3 + 3 841 c.474C>T c.(472-474)ggC>ggT p.G158G GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTTAGGGGGCCAGGCCCTGG 0.552000 49 82 0 0 1 0 0 SLC39A2 29986 broad.mit.edu 37 14 21469359 21469359 + Missense_Mutation SNP G G A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr14:21469359G>A ENST00000298681.4 + 4 708 c.551G>A c.(550-552)gGg>gAg p.G184E SLC39A2_ENST00000554422.1_3'UTR NM_014579.3 NP_055394.2 Q9NP94 S39A2_HUMAN solute carrier family 39 (zinc transporter), member 2 184 cytoplasmic membrane-bounded vesicle|integral to plasma membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 14 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0187) CTAGCTGTGGGGCTGCAGCCG 0.557000 31 52 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176721621 176721621 + Missense_Mutation SNP C C T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr5:176721621C>T ENST00000439151.2 + 23 7297 c.7252C>T c.(7252-7254)Ctc>Ttc p.L2418F NSD1_ENST00000361032.4_Missense_Mutation_p.L2315F|NSD1_ENST00000354179.4_Missense_Mutation_p.L2149F|NSD1_ENST00000347982.4_Missense_Mutation_p.L2149F NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2418 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTCCCAGAGACTCCCACCTCC 0.507000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 8 79 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121651553 121651553 + Missense_Mutation SNP C C A TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr7:121651553C>A ENST00000393386.2 + 12 2864 c.2453C>A c.(2452-2454)cCt>cAt p.P818H PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 818 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.P818L(2) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GATGGTGCACCTTTGCTTCCA 0.458000 61 124 2.5401e-28 2.8147e-28 1 1 0 DMTN 2039 broad.mit.edu 37 8 21925135 21925135 + Missense_Mutation SNP A A T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr8:21925135A>T ENST00000358242.3 + 4 684 c.191A>T c.(190-192)tAc>tTc p.Y64F DMTN_ENST00000443491.2_Missense_Mutation_p.Y39F|DMTN_ENST00000517600.1_Missense_Mutation_p.Y39F|DMTN_ENST00000432128.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523266.1_Missense_Mutation_p.Y64F|DMTN_ENST00000415253.1_Missense_Mutation_p.Y64F|DMTN_ENST00000381470.3_Missense_Mutation_p.Y64F|DMTN_ENST00000265800.5_Missense_Mutation_p.Y64F|DMTN_ENST00000519907.1_Missense_Mutation_p.Y64F|DMTN_ENST00000523782.2_Missense_Mutation_p.Y39F dematin actin binding protein CTCATGATCTACGAGCCTCAC 0.637000 13 63 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570580 20570580 + Missense_Mutation SNP T T C TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr16:20570580T>C ENST00000329697.6 - 3 535 c.367A>G c.(367-369)Atc>Gtc p.I123V ACSM2B_ENST00000565232.1_Missense_Mutation_p.I123V|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I123V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I44V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.I123V NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 123 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CAGCCCAGGATCACCAGCCAC 0.577000 3 27 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28712043 28712043 + Silent SNP G G T TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr17:28712043G>T ENST00000225719.4 + 2 859 c.783G>T c.(781-783)gtG>gtT p.V261V CPD_ENST00000543464.2_Silent_p.V14V NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 261 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GTGGCTCAGTGGTAGCAAGCT 0.368000 40 152 7.63091e-17 8.23335e-17 1 1 0 PRPF38B 55119 broad.mit.edu 37 1 109242566 109242580 + In_Frame_Del DEL ATGATCGTCGAAGGA ATGATCGTCGAAGGA - rs140893827 TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr1:109242566_109242580delATGATCGTCGAAGGA ENST00000370021.1 + 7 1869_1883 c.1232_1246delATGATCGTCGAAGGA c.(1231-1248)cgc>c p.HDRRRS411del PRPF38B_ENST00000370025.4_In_Frame_Del_p.HDRRRS522del Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 522 Arg-rich. mRNA processing|RNA splicing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TCAGACAAACATGATCGTCGAAGGAGCCAAAGTAT 0.377 7 151 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 5 7 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5434124 5434124 + Frame_Shift_Del DEL G G - TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr7:5434124delG ENST00000399537.4 - 3 638 c.290delC c.(289-291)cafs p.P97fs TNRC18_ENST00000399434.2_Frame_Shift_Del_p.P23fs|TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P97fs O15417 TNC18_HUMAN trinucleotide repeat containing 18 97 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCTAGGGGTTGGGGAGCGGAA 0.677 2 4 --- --- --- --- SNORA26 0 broad.mit.edu 37 9 89875500 89875500 + RNA DEL A A - rs142686931 TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr9:89875500delA ENST00000391119.1 + 0 136 GAGCCACAGCaaaaaaaaaaa 0.363 3 6 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174141 13174142 + RNA INS - - AAC rs112328257 by1000genomes TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr12:13174141_13174142insAAC ENST00000543321.1 + 0 1025 tctgtctcaaaaacaacaacaa 0.550 4 5 --- --- --- --- NPIPB5 100132247 broad.mit.edu 37 16 22545540 22545558 + Frame_Shift_Del DEL CGAGCGTCTGCGGGGGCCG CGAGCGTCTGCGGGGGCCG - TCGA-DJ-A4UQ-01A-11D-A257-08 TCGA-DJ-A4UQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 076a1f31-3612-4a04-9def-a013b04ba13c 0c59ca72-7df5-4854-883a-7b204a87f2f0 g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG ENST00000424340.1 + 7 1515_1533 c.1236_1254delCGAGCGTCTGCGGGGGCCG c.(1234-1254)gcfs p.AERLRGP412fs NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT 0.562 4 8 --- --- --- ---