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 OR13F1 138805 broad.mit.edu 37 9 107266930 107266930 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr9:107266930C>T ENST00000334726.2 + 1 476 c.387C>T c.(385-387)ccC>ccT p.P129P NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TCTGCAACCCCCTGAGATACC 0.552000 61 65 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3627984 3627984 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr17:3627984G>A ENST00000325418.4 + 1 774 c.755G>A c.(754-756)gGa>gAa p.G252E ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 252 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity ATGAACTCAGGAACCCCTGAG 0.552000 63 76 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 815715 815715 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr16:815715C>T ENST00000566549.1 + 10 1237 c.820C>T c.(820-822)Cgc>Tgc p.R274C MSLN_ENST00000545450.2_Missense_Mutation_p.R274C|MSLN_ENST00000382862.3_Missense_Mutation_p.R274C|MSLN_ENST00000563941.1_Missense_Mutation_p.R274C Q13421 MSLN_HUMAN mesothelin 274 Required for megakaryocyte-potentiating factor activity. cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GTGGCGGCAACGCTCCTCTCG 0.711000 29 31 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183906 55183906 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr17:55183906G>A ENST00000337714.3 + 2 1314 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 361 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AGAAGCAACCGAACAGGTGCT 0.537000 4 143 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92087443 92087443 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:92087443G>A ENST00000298047.6 + 1 2182 c.2165G>A c.(2164-2166)gGa>gAa p.G722E FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000525166.1_Missense_Mutation_p.G572E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 722 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AATAGACAGGGACCATATTTT 0.398000 TCGA Ovarian(4;0.039) 116 181 0 0 1 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727377 25727377 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr6:25727377C>T ENST00000274764.2 + 1 241 c.241C>T c.(241-243)Cgt>Tgt p.R81C NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 81 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 CGAGGCATCACGTTTGGCTCA 0.507000 4 156 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 191 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 587410 587410 + Silent SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:587410G>A ENST00000264555.5 + 4 494 c.366G>A c.(364-366)acG>acA p.T122T PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000413872.2_Silent_p.T121T NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 122 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCGTGGGGACGCCGGAGAACT 0.557000 60 108 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113633 94113633 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:94113633C>T ENST00000243673.2 - 4 1125 c.954G>A c.(952-954)aaG>aaA p.K318K GPR83_ENST00000539203.2_Silent_p.K276K NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 318 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGCGGATGACCTTGCTGGACA 0.517000 9 194 0 0 1 0 0 RGS6 9628 broad.mit.edu 37 14 72431532 72431532 + Silent SNP A A G TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr14:72431532A>G ENST00000553530.1 + 2 231 c.24A>G c.(22-24)caA>caG p.Q8Q RGS6_ENST00000355512.6_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 8 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCGGGGATCAAAGAGCAGTGG 0.478000 50 84 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124887093 124887093 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr12:124887093C>T ENST00000356219.3 - 15 1652 c.1497G>A c.(1495-1497)caG>caA p.Q499Q NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 499 Poly-Gln. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.Q499Q(9) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) gctgctgctgctgttgttgct 0.617000 3 9 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56181020 56181020 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr19:56181020C>T ENST00000450554.2 + 11 2202 c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|U2AF2_ENST00000308924.4_Missense_Mutation_p.R419W|CTD-2537I9.12_ENST00000589456.1_RNA NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 419 RRM 3. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGAGATCCCCCGGCCTGTGGA 0.657000 27 17 0 0 1 0 0 TRA2B 6434 broad.mit.edu 37 3 185637272 185637272 + Silent SNP T T A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr3:185637272T>A ENST00000453386.2 - 7 1010 c.735A>T c.(733-735)ggA>ggT p.G245G TRA2B_ENST00000382191.4_Silent_p.G145G NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 245 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 ctcctcctcctccacctcctc 0.393000 5 124 0 0 1 0 0 MADCAM1 8174 broad.mit.edu 37 19 501762 501762 + Missense_Mutation SNP A A C TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr19:501762A>C ENST00000587541.1 + 2 958 c.104A>C c.(103-105)cAg>cCg p.Q35P MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000215637.3_Missense_Mutation_p.Q254P|MADCAM1_ENST00000382683.4_Intron Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion molecule 1 254 Ig-like 1. cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane p.Q254P(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCACCTCCCAGGAGCCTCCC 0.721000 5 47 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 4 47 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48053616 48053616 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chrX:48053616C>T ENST00000311798.1 - 5 404 c.352G>A c.(352-354)Gca>Aca p.A118T SSX5_ENST00000376923.1_Missense_Mutation_p.A77T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TGGAAGTCTGCGACCCGTTTA 0.488000 137 23 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1247990 1247990 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:1247990C>T ENST00000447027.1 + 4 403 c.345C>T c.(343-345)aaC>aaT p.N115N MUC5B_ENST00000529681.1_Silent_p.N115N Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 115 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGACTTCAACGTCCAGCTAC 0.632000 5 53 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105593272 105593272 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr12:105593272G>A ENST00000258530.3 - 10 967 c.742C>T c.(742-744)Cgg>Tgg p.R248W APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 248 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGGGACACCCGCATCTTTTCC 0.502000 4 142 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21238368 21238368 + Missense_Mutation SNP G G A rs72653076 byFrequency TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr2:21238368G>A ENST00000233242.1 - 22 3509 c.3382C>T c.(3382-3384)Cgt>Tgt p.R1128C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1128 R -> H (in dbSNP:rs12713843). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCTTGCAAACGGGGTATGGAA 0.453000 41 59 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143806961 143806961 + Missense_Mutation SNP T T C TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr7:143806961T>C ENST00000408979.2 + 1 355 c.286T>C c.(286-288)Tgc>Cgc p.C96R NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) CTTTGTTCCATGCATAATGCA 0.433000 5 354 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69957819 69957819 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:69957819C>T ENST00000355303.5 + 7 1111 c.806C>T c.(805-807)aCg>aTg p.T269M ANO1_ENST00000538023.1_Missense_Mutation_p.T269M|ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000531349.1_Missense_Mutation_p.T4M NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 269 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 TAAGGCATCACGAGCCTGCTG 0.532000 5 216 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 480554 480554 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr20:480554G>A ENST00000217244.3 - 5 613 c.238C>T c.(238-240)Cgt>Tgt p.R80C CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000400217.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 80 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) TTTATTTCACGCTTAATTTTC 0.343000 5 281 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36962286 36962286 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr5:36962286G>A ENST00000282516.8 + 6 1019 c.520G>A c.(520-522)Gtg>Atg p.V174M NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 174 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AAATAGCCCAGTGCCTAGTCC 0.438000 181 250 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 4 122 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47883203 47883203 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr19:47883203C>T ENST00000328771.4 + 14 3292 c.2943C>T c.(2941-2943)gcC>gcT p.A981A NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 981 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGGAGGTGGCCACCCTGAGCA 0.662000 4 38 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 71 102 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93719 93719 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr10:93719C>T ENST00000447903.2 - 4 712 c.397G>A c.(397-399)Gaa>Aaa p.E133K TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E205K Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 205 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.E205K(1) NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TACAGAGCTTCGTTATCTATG 0.537000 8 290 0 0 1 0 0 BVES 11149 broad.mit.edu 37 6 105573335 105573335 + Missense_Mutation SNP T T C TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr6:105573335T>C ENST00000314641.5 - 4 686 c.470A>G c.(469-471)aAg>aGg p.K157R BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 157 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity p.K157R(1) NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) AGTTTGGCCCTTTTTCAAGGT 0.438000 5 378 0 0 1 0 0 TRAF5 7188 broad.mit.edu 37 1 211544684 211544684 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr1:211544684C>T ENST00000261464.5 + 10 1025 c.971C>T c.(970-972)gCt>gTt p.A324V TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000336184.2_Missense_Mutation_p.A324V|TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 324 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TGGCTAGAAGCTCAAGTGCAT 0.318000 31 98 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42792003 42792003 + Nonsense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr19:42792003G>A ENST00000572681.2 + 7 3602 c.3534G>A c.(3532-3534)tgG>tgA p.W1178* CIC_ENST00000575354.2_Nonsense_Mutation_p.W269*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W269* Q96RK0 CIC_HUMAN capicua transcriptional repressor 269 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) ATTGGAAGTGGTGCAACAAGG 0.632000 """Mis, F, S""" oligodendroglioma 15 6 0 0 1 0 0 CTD-2049J23.2 0 broad.mit.edu 37 3 159819357 159819357 + RNA SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr3:159819357G>A ENST00000497452.1 - 0 517 AGAGCCTGAAGCAGAGCATAG 0.453000 6 312 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123517 12123517 + Silent SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr6:12123517G>A ENST00000379388.2 + 4 3821 c.3489G>A c.(3487-3489)caG>caA p.Q1163Q NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1163 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTTCTTTCCAGGAGCTGAATA 0.522000 37 62 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179674427 179674427 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr5:179674427G>A ENST00000425491.2 - 7 866 c.700C>T c.(700-702)Cgc>Tgc p.R234C MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000343111.6_Intron NM_001135044.1 NP_001128516.1 P45984 MK09_HUMAN mitogen-activated protein kinase 9 0 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAAGGTCGCGGGGAAGGATA 0.502000 4 66 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21997752 21997752 + Missense_Mutation SNP G G C TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr12:21997752G>C ENST00000261200.4 - 25 3193 c.3194C>G c.(3193-3195)gCc>gGc p.A1065G ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G|ABCC9_ENST00000261201.4_Missense_Mutation_p.A1065G|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1065 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAGATTTTTGGCAGCTGTGAG 0.398000 7 191 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196229932 196229932 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr3:196229932G>A ENST00000318037.3 - 1 707 c.113C>T c.(112-114)cCg>cTg p.P38L NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 38 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding p.P38Q(1) NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CTGGAAGCACGGTTTACACAG 0.582000 5 184 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75877843 75877843 + Silent SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr10:75877843G>A ENST00000211998.4 + 22 3415 c.3321G>A c.(3319-3321)cgG>cgA p.R1107R VCL_ENST00000417648.2_Silent_p.R300R|VCL_ENST00000372755.3_Silent_p.R1039R NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 1107 C-terminal tail. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) AGACTGTGCGGGAAGCTGAAG 0.522000 5 268 0 0 1 0 0 GPR18 0 broad.mit.edu 37 13 99907196 99907196 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr13:99907196G>A ENST00000340807.3 - 3 1487 c.931C>T c.(931-933)Cgc>Tgc p.R311C GPR18_ENST00000397470.2_Missense_Mutation_p.R311C|GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 311 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) CTTTTTCTGCGCATGCTTCGA 0.378000 4 194 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347047 71347047 + Missense_Mutation SNP T T C TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr4:71347047T>C ENST00000413702.1 + 4 874 c.586T>C c.(586-588)Tct>Cct p.S196P MUC7_ENST00000456088.1_Missense_Mutation_p.S196P|MUC7_ENST00000304887.5_Missense_Mutation_p.S196P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 196 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.587000 4 229 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193218979 193218979 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr1:193218979C>T ENST00000367435.3 + 16 1721 c.1537C>T c.(1537-1539)Cgg>Tgg p.R513W CDC73_ENST00000477868.1_3'UTR NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 513 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 AGTGTTCTTACGGTTTTGGGA 0.348000 63 106 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934297 4934297 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr16:4934297C>T ENST00000345988.2 - 22 4448 c.4359G>A c.(4357-4359)ccG>ccA p.P1453P PPL_ENST00000590782.2_Silent_p.P1451P NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1453 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GCGCCTGCTGCGGGTCCTGCT 0.657000 4 251 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911840 80911840 + Translation_Start_Site SNP T T C TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr13:80911840T>C ENST00000377102.1 - 2 978 c.1A>G c.(1-3)Atg>Gtg p.M1V SPRY2_ENST00000540649.1_Start_Codon_SNP_p.M1V|SPRY2_ENST00000377104.3_Start_Codon_SNP_p.M1V O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 1 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CTGGCCTCCATCAGGTCTTGG 0.587000 22 34 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118968694 118968694 + Missense_Mutation SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:118968694G>A ENST00000409993.2 - 8 2339 c.788C>T c.(787-789)gCc>gTc p.A263V DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V|DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 263 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GCCCACCACGGCAAAGGTCAT 0.532000 5 168 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123887129 123887129 + Missense_Mutation SNP A A G TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:123887129A>G ENST00000320891.4 + 1 848 c.848A>G c.(847-849)aAc>aGc p.N283S NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CCCCTTCTCAACCCTGTTGTG 0.458000 27 161 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3143689 3143689 + Missense_Mutation SNP G G A rs11542782 TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr10:3143689G>A ENST00000381075.2 + 6 597 c.373G>A c.(373-375)Ggg>Agg p.G125R PFKP_ENST00000381125.4_Missense_Mutation_p.G133R NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 133 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GAGCCTCACCGGGGCCAACCT 0.667000 8 20 0 0 1 0 0 ZNF366 0 broad.mit.edu 37 5 71756109 71756109 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr5:71756109C>T ENST00000318442.5 - 2 1705 c.1215G>A c.(1213-1215)ccG>ccA p.P405P NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GCAGCTGGCTCGGGTACTGGA 0.597000 37 38 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149679717 149679717 + Silent SNP A A G TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr2:149679717A>G ENST00000435030.1 + 2 506 c.138A>G c.(136-138)ccA>ccG p.P46P O60282 KIF5C_HUMAN kinesin family member 5C 46 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) AAGGGAAGCCATATGTCTTCG 0.388000 16 35 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97583115 97583115 + Silent SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr10:97583115C>T ENST00000371207.3 + 2 237 c.174C>T c.(172-174)aaC>aaT p.N58N ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.N46N|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000490659.1_3'UTR NM_001164178.1 NP_001157650.1 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 46 SS -> G (in Ref. 8; AA sequence). cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TGCCAGAAAACGTTAAGGTAA 0.468000 64 70 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477535 58477535 + Missense_Mutation SNP G G A rs138125182 TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr11:58477535G>A ENST00000344743.3 - 6 736 c.595C>T c.(595-597)Cgc>Tgc p.R199C GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 199 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TGAATGCAGCGCTCAATGAAT 0.502000 69 104 0 0 1 0 0 SLC16A3 9123 broad.mit.edu 37 17 80195354 80195354 + Silent SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr17:80195354G>A ENST00000581287.1 + 3 3030 c.708G>A c.(706-708)tcG>tcA p.S236S SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 236 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TGGCCGCCTCGGTCATGGTGC 0.716000 16 23 0 0 1 0 0 ASF1B 55723 broad.mit.edu 37 19 14231314 14231314 + Missense_Mutation SNP C C A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr19:14231314C>A ENST00000263382.3 - 4 1065 c.566G>T c.(565-567)tGc>tTc p.C189F ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F NM_018154.2 NP_060624.1 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B histone chaperone 189 cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 GCCAGGGATGCAGCCAGGGAG 0.642000 11 52 1.77063e-15 1.80116e-15 1 1 0 PCDHA1 0 broad.mit.edu 37 5 140167257 140167257 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr5:140167257C>T ENST00000504120.2 + 1 1382 c.1382C>T c.(1381-1383)aCa>aTa p.T461I PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGTACACAGTATTCGTG 0.672000 94 132 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122399950 122399950 + Missense_Mutation SNP C C G TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr12:122399950C>G ENST00000288912.4 + 15 3228 c.2374C>G c.(2374-2376)Cag>Gag p.Q792E WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 792 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CCACACCGACCAGGGCTGCTA 0.512000 119 158 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6928249 6928249 + Silent SNP G G A TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr19:6928249G>A ENST00000381404.4 + 16 2190 c.2160G>A c.(2158-2160)gcG>gcA p.A720A EMR1_ENST00000250572.8_Intron|EMR1_ENST00000312053.4_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381407.5_Intron NM_001256252.1 NP_001243181.1 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 763 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) ACAGCCTGGCGAAGTGTGTTC 0.498000 60 88 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 3 3 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 118 --- --- --- --- GPR149 344758 broad.mit.edu 37 3 154146723 154146727 + Frame_Shift_Del DEL TGGAG TGGAG - TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr3:154146723_154146727delTGGAG ENST00000389740.2 - 1 777_781 c.678_682delCTCCA c.(676-684)caacfs p.HSN226fs NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 226 integral to membrane|plasma membrane G-protein coupled receptor activity p.S227S(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCCTGGTAGTTGGAGTGGAGTCTCG 0.595 42 102 --- --- --- --- KIAA1586 57691 broad.mit.edu 37 6 56918978 56918979 + Frame_Shift_Ins INS - - T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr6:56918978_56918979insT ENST00000370733.4 + 4 1888_1889 c.1681_1682insT c.(1681-1683)aagfs p.K561fs KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.K534fs NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 561 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAAACGTACCATAAGAGCTTTG 0.267 52 57 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365dcb4e-892f-4f2d-ab03-c12d53456e44 f5d9c98d-0660-4659-b8b9-ccd4679de3f4 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 4 --- --- --- ---