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 KLHL21 9903 broad.mit.edu 37 1 6659137 6659137 + Missense_Mutation SNP G G A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr1:6659137G>A ENST00000377663.3 - 2 1580 c.1397C>T c.(1396-1398)gCg>gTg p.A466V KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V|KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V Q9UJP4 KLH21_HUMAN kelch-like family member 21 466 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule p.A466V(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) GTTTAGAGTCGCAGTCTTGGG 0.592 3 21 --- --- --- --- USP48 84196 broad.mit.edu 37 1 22056252 22056252 + Missense_Mutation SNP C C A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr1:22056252C>A ENST00000308271.9 - 10 1893 c.1245G>T c.(1243-1245)atG>atT p.M415I USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 415 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.M415I(2) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TATAAACCAACATATATGCAT 0.398 11 304 --- --- --- --- PLK3 1263 broad.mit.edu 37 1 45269352 45269352 + Missense_Mutation SNP G G T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr1:45269352G>T ENST00000372201.4 + 9 1392 c.1153G>T c.(1153-1155)Gcc>Tcc p.A385S PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 385 membrane ATP binding|protein binding|protein serine/threonine kinase activity p.A346S(1) endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CCATCAGGATGCCAGGCCAGA 0.597 7 38 --- --- --- --- PLA2G4A 5321 broad.mit.edu 37 1 186915809 186915809 + Silent SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr1:186915809A>G ENST00000367466.3 + 11 1226 c.1074A>G c.(1072-1074)aaA>aaG p.K358K PLA2G4A_ENST00000442353.2_Silent_p.K298K NM_024420.2 NP_077734 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 358 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.K358K(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GCATGGCTAAATATGGTACTT 0.358 23 121 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168105389 168105389 + Missense_Mutation SNP C C T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr2:168105389C>T ENST00000409195.1 + 9 7576 c.7487C>T c.(7486-7488)tCt>tTt p.S2496F XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2321 actin cytoskeleton organization cell junction actin binding p.S2496F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TCTATTGACTCTGCAAACTGT 0.398 9 172 --- --- --- --- HYAL3 8372 broad.mit.edu 37 3 50332156 50332156 + Missense_Mutation SNP C C A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr3:50332156C>A ENST00000336307.1 - 2 1150 c.878G>T c.(877-879)gGg>gTg p.G293V HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 293 carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity p.G293V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CAGGAACCTCCCAGATCTCCG 0.612 27 119 --- --- --- --- SENP7 57337 broad.mit.edu 37 3 101049201 101049201 + Missense_Mutation SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr3:101049201A>G ENST00000394095.2 - 20 2781 c.2728T>C c.(2728-2730)Tct>Cct p.S910P SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 910 Protease. proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GCACTCAAAGACAGTGTCGAA 0.328 3 98 --- --- --- --- ADRB2 154 broad.mit.edu 37 5 148206406 148206406 + Silent SNP C C T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr5:148206406C>T ENST00000305988.4 + 1 251 c.12C>T c.(10-12)ccC>ccT p.P4P NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 4 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity p.P4P(1) endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TGGGGCAACCCGGGAACGGCA 0.726 7 88 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87969899 87969899 + Silent SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr6:87969899A>G ENST00000369577.3 + 8 6595 c.6552A>G c.(6550-6552)caA>caG p.Q2184Q ZNF292_ENST00000339907.4_Silent_p.Q2179Q NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q2039Q(1)|p.Q2184Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GAATTTTCCAAGCAATTACTG 0.363 8 449 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151161999 151161999 + Missense_Mutation SNP A A C TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr6:151161999A>C ENST00000367328.1 + 17 4437 c.4125A>C c.(4123-4125)aaA>aaC p.K1375N PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 1375 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.K1375N(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TAAGGGAAAAATTTCAGTGTC 0.363 28 195 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66296183 66296183 + RNA SNP G G A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr7:66296183G>A ENST00000457166.1 - 0 683 NR_003934.1 CATTTCTTACGTGTCAGCATC 0.567 6 39 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87104731 87104731 + Silent SNP C C T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr7:87104731C>T ENST00000265723.4 - 2 162 c.51G>A c.(49-51)gcG>gcA p.A17A ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 17 cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.A17A(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) AGTCGCCCTCCGCGCTCGTGG 0.577 13 93 --- --- --- --- KCNMA1 3778 broad.mit.edu 37 10 78647070 78647070 + Missense_Mutation SNP C C A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr10:78647070C>A ENST00000286627.5 - 27 4443 c.3491G>T c.(3490-3492)aGg>aTg p.R1164M KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1222 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity p.R1164M(2)|p.R1226M(2) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CCGGGACTCCCTGGACTTGGG 0.552 13 327 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65269992 65269992 + RNA SNP A A T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr11:65269992A>T ENST00000534336.1 + 0 4760 NR_002819.2 TGTTTATTTTAAACTTATCTG 0.308 4 99 --- --- --- --- FOLR3 2352 broad.mit.edu 37 11 71850178 71850178 + Silent SNP G G T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr11:71850178G>T ENST00000445078.2 + 3 533 c.462G>T c.(460-462)ggG>ggT p.G154G FOLR3_ENST00000456237.1_Silent_p.G156G|FOLR3_ENST00000442948.2_Silent_p.G113G P41439 FOLR3_HUMAN folate receptor 3 (gamma) 112 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity p.G156G(1) large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) CCAACCTGGGGCCCTGGATCC 0.562 6 48 --- --- --- --- FKBP4 2288 broad.mit.edu 37 12 2912357 2912357 + Missense_Mutation SNP C C G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr12:2912357C>G ENST00000001008.4 + 10 1500 c.1313C>G c.(1312-1314)aCa>aGa p.T438R RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 438 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging p.T438R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) CCCACTGACACAGAGATGAAG 0.557 2 14 --- --- --- --- DNM1L 10059 broad.mit.edu 37 12 32871615 32871615 + Missense_Mutation SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr12:32871615A>G ENST00000452533.2 + 7 822 c.658A>G c.(658-660)Atg>Gtg p.M220V DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 220 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding p.M220V(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) ACTTGATCTCATGGATGCGGG 0.388 14 312 --- --- --- --- HAL 3034 broad.mit.edu 37 12 96368030 96368030 + Missense_Mutation SNP G G A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr12:96368030G>A ENST00000261208.3 - 21 2322 c.1954C>T c.(1954-1956)Ccg>Tcg p.P652S HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 652 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TCAGACTCCGGGATTTTGGTG 0.428 6 448 --- --- --- --- UGGT2 55757 broad.mit.edu 37 13 96579562 96579562 + Missense_Mutation SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr13:96579562A>G ENST00000376747.3 - 18 2076 c.2006T>C c.(2005-2007)aTt>aCt p.I669T NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 669 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity p.I669T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TAGAAAATCAATTGCATTCGT 0.303 6 154 --- --- --- --- RALGAPA1 253959 broad.mit.edu 37 14 36039876 36039876 + Silent SNP T T G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr14:36039876T>G ENST00000258840.6 - 39 6456 c.6066A>C c.(6064-6066)acA>acC p.T2022T RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1975 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.T1975T(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATTTATAGCTGTTGCTCTAA 0.363 4 66 --- --- --- --- L3HYPDH 112849 broad.mit.edu 37 14 59942813 59942813 + Missense_Mutation SNP T T G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr14:59942813T>G ENST00000247194.4 - 3 911 c.798A>C c.(796-798)gaA>gaC p.E266D L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D NM_144581.1 NP_653182.1 L-3-hydroxyproline dehydratase (trans-) p.E266D(1) TTAATACCTGTTCATCTGCAA 0.348 8 362 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 54006701 54006701 + Missense_Mutation SNP G G T TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr15:54006701G>T ENST00000396328.1 - 6 760 c.521C>A c.(520-522)tCt>tAt p.S174Y WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 174 p.S174Y(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CACCAAGAGAGAATCTTCTGT 0.383 14 119 --- --- --- --- ISLR2 57611 broad.mit.edu 37 15 74426317 74426317 + Missense_Mutation SNP G G A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr15:74426317G>A ENST00000361742.3 + 4 1991 c.1222G>A c.(1222-1224)Gtc>Atc p.V408I ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 408 positive regulation of axon extension cell surface|integral to membrane|plasma membrane p.V408I(1) breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GGGCAACAGCGTCCTGCCTTC 0.662 3 19 --- --- --- --- MRM1 79922 broad.mit.edu 37 17 34958384 34958384 + Missense_Mutation SNP C C A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr17:34958384C>A ENST00000250156.7 + 1 384 c.145C>A c.(145-147)Ctg>Atg p.L49M NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 49 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GACCTCTCGGCTGGAGCTTCT 0.677 4 130 --- --- --- --- ESCO1 114799 broad.mit.edu 37 18 19154390 19154390 + Nonsense_Mutation SNP T T A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr18:19154390T>A ENST00000269214.5 - 4 1352 c.415A>T c.(415-417)Aga>Tga p.R139* NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 139 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding p.R139*(1) breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 TGAATTTCTCTACTGCGTAAC 0.373 14 878 --- --- --- --- FBN3 84467 broad.mit.edu 37 19 8176568 8176568 + Missense_Mutation SNP G G A rs149551378 byFrequency TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr19:8176568G>A ENST00000600128.1 - 32 4462 c.4048C>T c.(4048-4050)Cgc>Tgc p.R1350C FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C Q75N90 FBN3_HUMAN fibrillin 3 1350 EGF-like 20; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.R1350C(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AAGCCCTGGCGGCAGGTGCAG 0.632 12 43 --- --- --- --- DNM2 1785 broad.mit.edu 37 19 10904491 10904491 + Missense_Mutation SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr19:10904491A>G ENST00000314646.5 + 8 1252 c.1088A>G c.(1087-1089)aAt>aGt p.N363S DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S P50570 DYN2_HUMAN dynamin 2 363 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GCCCGAATCAATCGCATCTTC 0.617 """F, N, Splice, Mis, O""" ETP ALL 5 208 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54754760 54754760 + Missense_Mutation SNP C C T rs112549096 byFrequency TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr19:54754760C>T ENST00000316219.5 - 13 1770 c.1663G>A c.(1663-1665)Gcc>Acc p.A555T LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T NM_001081442.1|NM_006840.3 NP_001074911.1|NP_006831.1 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 555 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity p.A555T(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTAGCTGGGCGTAGGTCACA 0.652 8 73 --- --- --- --- LILRB1 10859 broad.mit.edu 37 19 55148219 55148219 + Missense_Mutation SNP G G A TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr19:55148219G>A ENST00000396331.1 + 16 2200 c.1843G>A c.(1843-1845)Gcc>Acc p.A615T LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 615 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGTGACCTACGCCCAGCTGCA 0.667 HNSCC(37;0.09) 4 138 --- --- --- --- N6AMT1 29104 broad.mit.edu 37 21 30255333 30255333 + Silent SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr21:30255333A>G ENST00000303775.5 - 2 220 c.195T>C c.(193-195)tcT>tcC p.S65S N6AMT1_ENST00000351429.3_Silent_p.S65S NM_013240.4 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 (putative) 65 positive regulation of cell growth protein complex nucleic acid binding|protein binding|protein methyltransferase activity p.S65S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 GGCCTATCATAGAGGCTAGGA 0.333 24 125 --- --- --- --- PFKL 5211 broad.mit.edu 37 21 45742931 45742931 + Splice_Site SNP A A G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr21:45742931A>G ENST00000403390.1 + 16 1637 c.1637A>G c.(1636-1638)gAg>gGg p.E546G PFKL_ENST00000349048.4_Splice_Site_p.E499G P17858 K6PL_HUMAN phosphofructokinase, liver 499 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GGTGGGTTTGAGGTGAGAGCT 0.622 3 106 --- --- --- --- PIGA 5277 broad.mit.edu 37 X 15342939 15342939 + Missense_Mutation SNP T T C TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chrX:15342939T>C ENST00000333590.4 - 5 1120 c.1036A>G c.(1036-1038)Att>Gtt p.I346V PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 346 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding p.I346V(1) endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) TCACATAAAATAATAAGGTTT 0.383 5 118 --- --- --- --- HUWE1 10075 broad.mit.edu 37 X 53657925 53657925 + Missense_Mutation SNP T T C TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chrX:53657925T>C ENST00000342160.3 - 11 1281 c.824A>G c.(823-825)cAg>cGg p.Q275R HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 275 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CTGAACTGCCTGCAATCGCTT 0.393 3 112 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76940433 76940433 + Missense_Mutation SNP A A C TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chrX:76940433A>C ENST00000373344.5 - 8 874 c.660T>G c.(658-660)tgT>tgG p.C220W ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 220 ADD. C -> R (in ATRX).|C -> Y (in MRXSHF1). DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.C220W(2)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTACCTACCTACATTGTTCAT 0.328 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 134 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135593930 135593930 + Missense_Mutation SNP T T G TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chrX:135593930T>G ENST00000535601.1 + 10 2448 c.2026T>G c.(2026-2028)Tca>Gca p.S676A HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 676 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding p.S676A(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GTTTGAAGAGTCAGATGACAA 0.403 6 66 --- --- --- --- DISP1 84976 broad.mit.edu 37 1 223178140 223178162 + Frame_Shift_Del DEL TTGGACCACAGGGTACCTGTGGT TTGGACCACAGGGTACCTGTGGT - TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT ENST00000284476.6 + 8 3565_3587 c.3401_3423delTTGGACCACAGGGTACCTGTGGT c.(3400-3423)cttggaccacagggtacctgtggtfs p.LGPQGTCG1134fs NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1134 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT 0.480 8 186 --- --- --- --- MSTN 2660 broad.mit.edu 37 2 190925125 190925125 + Frame_Shift_Del DEL C C - TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr2:190925125delC ENST00000260950.4 - 2 542 c.410delG c.(409-411)tgtfs p.C138fs C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 138 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) AAAGAAGCAACATTTGGGTTT 0.328 10 160 --- --- --- --- ZDHHC20 253832 broad.mit.edu 37 13 21987884 21987895 + In_Frame_Del DEL GTTCCTTTTCAG GTTCCTTTTCAG - TCGA-EJ-5508-01A-02D-1576-08 TCGA-EJ-5508-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 275b578d-a786-4fdc-a995-5ab0505d68ee 1e2392d3-82f0-4f1e-b949-a0a634c87743 g.chr13:21987884_21987895delGTTCCTTTTCAG ENST00000400590.3 - 4 464_475 c.266_277delCTGAAAAGGAAC c.(265-279)tctgaaaaggaacgt>tgt p.89_93SEKER>C ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 89 integral to membrane acyltransferase activity|zinc ion binding p.K91N(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) TTTTCATAACGTTCCTTTTCAGAATTGGACAA 0.302 8 83 --- --- --- ---