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 KCND3 3752 broad.mit.edu 37 1 112524826 112524826 + Missense_Mutation SNP T T C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr1:112524826T>C ENST00000369697.1 - 1 592 c.523A>G c.(523-525)Aac>Gac p.N175D KCND3_ENST00000315987.2_Missense_Mutation_p.N175D|KCND3_ENST00000302127.4_Missense_Mutation_p.N175D Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 175 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GTGTGGGGGTTCTCGAAGGCC 0.627000 9 44 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 3 8 0 0 1 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377236 84377236 + Silent SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr4:84377236C>T ENST00000295491.4 + 1 119 c.6C>T c.(4-6)gcC>gcT p.A2A MRPS18C_ENST00000507349.1_Silent_p.A2A|MRPS18C_ENST00000507019.1_Silent_p.A2A NM_016067.2 NP_057151.1 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C 2 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) GAACCATGGCCGCTGTGGTTG 0.562000 37 169 0 0 1 0 0 SNX20 124460 broad.mit.edu 37 16 50707544 50707544 + Missense_Mutation SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr16:50707544G>A ENST00000330943.4 - 4 895 c.724C>T c.(724-726)Cgc>Tgc p.R242C SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron NM_182854.2 NP_878274.1 Q7Z614 SNX20_HUMAN sorting nexin 20 242 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1) 15 TCGGCGGGGCGGTCGAGGTCG 0.756000 5 18 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 3 10 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35742769 35742769 + Silent SNP A A G TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr14:35742769A>G ENST00000557565.1 + 8 2130 c.1749A>G c.(1747-1749)acA>acG p.T583T KIAA0391_ENST00000250377.7_Silent_p.T488T|KIAA0391_ENST00000321130.10_Silent_p.T567T|KIAA0391_ENST00000604948.1_Silent_p.T488T|KIAA0391_ENST00000603544.1_Silent_p.T567T|KIAA0391_ENST00000534898.4_Silent_p.T583T|KIAA0391_ENST00000605870.1_Silent_p.T211T O15091 MRRP3_HUMAN KIAA0391 583 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) ACCAAAAGACATAGAGATTCT 0.453000 4 41 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30998961 30998961 + Missense_Mutation SNP G G A rs140768346 byFrequency TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr8:30998961G>A ENST00000298139.5 + 25 3232 c.2983G>A c.(2983-2985)Gcc>Acc p.A995T NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 995 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TCAGCGTCTTGCCGATCAATA 0.378000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 4 51 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30776280 30776280 + Silent SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr22:30776280G>A ENST00000382363.3 - 6 929 c.855C>T c.(853-855)ctC>ctT p.L285L NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 285 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CCTGGCCTCCGAGCTCCCGCT 0.687000 9 47 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000301897.4_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 4 43 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703767 4703767 + Missense_Mutation SNP A A G TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr11:4703767A>G ENST00000396950.3 - 2 414 c.175T>C c.(175-177)Tac>Cac p.Y59H NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGAAAGAGGTACATCGGAGCG 0.512000 7 86 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48431804 48431804 + Nonsense_Mutation SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr17:48431804C>T ENST00000017003.2 + 3 713 c.664C>T c.(664-666)Caa>Taa p.Q222* XYLT2_ENST00000507602.1_Nonsense_Mutation_p.Q222* NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 222 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) GGATGAGAGCCAAGCCCAGCA 0.657000 7 40 0 0 1 0 0 ZCCHC10 54819 broad.mit.edu 37 5 132342584 132342584 + Missense_Mutation SNP G G C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr5:132342584G>C ENST00000324170.3 - 2 136 c.70C>G c.(70-72)Cag>Gag p.Q24E ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.Q46E|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.Q24E|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.Q46E NM_017665.1 NP_060135.1 Q8TBK6 ZCH10_HUMAN zinc finger, CCHC domain containing 10 46 nucleic acid binding|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGCATTTCTGACATCTTACA 0.338000 6 17 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634427 32634427 + Missense_Mutation SNP C C A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr9:32634427C>A ENST00000242310.4 - 1 1240 c.1151G>T c.(1150-1152)gGc>gTc p.G384V RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 384 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAGTTTGAAGCCATAGTCAAA 0.463000 35 146 1.36615e-20 1.45428e-20 1 1 0 UNC79 57578 broad.mit.edu 37 14 94158128 94158128 + Missense_Mutation SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr14:94158128G>A ENST00000553484.1 + 48 7643 c.7489G>A c.(7489-7491)Gcg>Acg p.A2497T UNC79_ENST00000256339.4_Missense_Mutation_p.A2298T|UNC79_ENST00000555664.1_Missense_Mutation_p.A2436T|UNC79_ENST00000393151.2_Missense_Mutation_p.A2475T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2475 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCTCTTCCACGCGTTCATCTT 0.527000 9 93 0 0 1 0 0 ARCN1 372 broad.mit.edu 37 11 118455206 118455206 + Missense_Mutation SNP C C T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr11:118455206C>T ENST00000359415.4 + 6 953 c.788C>T c.(787-789)cCc>cTc p.P263L ARCN1_ENST00000264028.4_Missense_Mutation_p.P222L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.P134L P48444 COPD_HUMAN archain 1 222 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCTTCAGGCCCCAGCAAGGCT 0.393000 5 29 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64587880 64587880 + Silent SNP G G A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr12:64587880G>A ENST00000311915.8 - 3 1107 c.1080C>T c.(1078-1080)caC>caT p.H360H C12orf66_ENST00000398055.3_Silent_p.H360H|C12orf66_ENST00000544871.1_Silent_p.H307H Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 360 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 CATTGGGCCAGTGCATGACTG 0.522000 9 112 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31138963 31138963 + Missense_Mutation SNP T T C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr10:31138963T>C ENST00000538351.1 - 7 978 c.224A>G c.(223-225)tAt>tGt p.Y75C ZNF438_ENST00000331737.6_Missense_Mutation_p.Y114C|ZNF438_ENST00000444692.2_Missense_Mutation_p.Y114C|ZNF438_ENST00000361310.3_Missense_Mutation_p.Y124C|ZNF438_ENST00000452305.1_Missense_Mutation_p.Y114C|ZNF438_ENST00000436087.2_Missense_Mutation_p.Y124C|ZNF438_ENST00000442986.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000413025.1_Missense_Mutation_p.Y124C|ZNF438_ENST00000375311.1_Intron NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) AGGGGGTTGATATCTAGGAAT 0.448000 7 100 0 0 1 0 0 TMEM203 94107 broad.mit.edu 37 9 140099754 140099754 + Missense_Mutation SNP T T C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr9:140099754T>C ENST00000343666.5 - 1 336 c.113A>G c.(112-114)gAt>gGt p.D38G TMEM203_ENST00000537254.1_Missense_Mutation_p.D38G NM_053045.1 NP_444273.1 Q969S6 TM203_HUMAN transmembrane protein 203 38 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GACCAGGCCATCCACACGCAG 0.637000 3 20 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34808710 34808710 + Missense_Mutation SNP C C A TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr5:34808710C>A ENST00000265109.3 + 7 688 c.401C>A c.(400-402)gCt>gAt p.A134D RAI14_ENST00000512629.1_Missense_Mutation_p.A134D|RAI14_ENST00000397449.1_Missense_Mutation_p.A127D|RAI14_ENST00000503673.1_Missense_Mutation_p.A134D|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Missense_Mutation_p.A126D|RAI14_ENST00000515799.1_Missense_Mutation_p.A137D|RAI14_ENST00000428746.2_Missense_Mutation_p.A134D NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 134 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TGCCTTCAAGCTGTGCAGATT 0.478000 6 37 3.09899e-07 3.19583e-07 1 1 0 PRDM15 63977 broad.mit.edu 37 21 43259762 43259762 + Missense_Mutation SNP G G C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr21:43259762G>C ENST00000422911.1 - 7 1053 c.952C>G c.(952-954)Cta>Gta p.L318V PRDM15_ENST00000447207.2_Missense_Mutation_p.L281V|PRDM15_ENST00000538201.1_Missense_Mutation_p.L281V|PRDM15_ENST00000398548.1_Missense_Mutation_p.L318V|PRDM15_ENST00000269844.3_Missense_Mutation_p.L647V P57071 PRD15_HUMAN PR domain containing 15 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 ACGATGACTAGAGGCTGCTCA 0.617000 12 253 0 0 1 0 0 VMP1 81671 broad.mit.edu 37 17 57915689 57915689 + Missense_Mutation SNP G G C TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr17:57915689G>C ENST00000262291.4 + 11 1318 c.1008G>C c.(1006-1008)aaG>aaC p.K336N VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Missense_Mutation_p.K144N|VMP1_ENST00000537567.1_Missense_Mutation_p.K202N|VMP1_ENST00000545362.1_Missense_Mutation_p.K280N|VMP1_ENST00000536180.1_Missense_Mutation_p.K239N NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 336 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 CTCTGCAGAAGCCATTTCAGG 0.493000 10 52 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52852225 52852225 + Splice_Site DEL G G - TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr3:52852225delG ENST00000346281.5 - 18 2149 c.2089_splice c.e18-1 p.A697_splice ITIH4_ENST00000266041.4_Intron|ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000406595.1_Intron NM_001166449.1 NP_001159921.1 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 725 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) AGGAAGGGCAGGCTGGGGGCA 0.602 8 59 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 5 6 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 4 3 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329450 106329451 + RNA INS - - ACC rs74454466 by1000genomes TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr14:106329450_106329451insACC ENST00000390560.2 - 0 17_18 CAGACGTCCATGTAGTAGTAGT 0.540 9 69 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15436915 15436915 + RNA DEL G G - TCGA-DJ-A3VK-01A-11D-A23M-08 TCGA-DJ-A3VK-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8f26be4-e2af-4f97-a57f-ed36defb74b5 d839b4e3-7b94-49f6-9dfc-6e9b56e6e2a9 g.chr21:15436915delG ENST00000428809.1 + 0 177 CCCCTGGGACGGGGGCCTTGG 0.687 3 5 --- --- --- ---