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 HSPA2 3306 broad.mit.edu 37 14 65009310 65009310 + Silent SNP C C T rs147636387 TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr14:65009310C>T ENST00000247207.6 + 1 2125 c.1743C>T c.(1741-1743)atC>atT p.I581I HSPA2_ENST00000394709.1_Silent_p.I581I NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 581 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) AGGAGGTGATCAACTGGCTCG 0.473000 30 53 0 0 1 0 0 ARL5B 221079 broad.mit.edu 37 10 18955519 18955519 + Missense_Mutation SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr10:18955519T>C ENST00000377275.3 + 2 295 c.62T>C c.(61-63)aTa>aCa p.I21T NM_178815.3 NP_848930.1 Q96KC2 ARL5B_HUMAN ADP-ribosylation factor-like 5B 21 small GTPase mediated signal transduction intracellular GTP binding lung(1)|ovary(1) 2 AAAGTAATTATAGTGGGACTG 0.308000 11 24 0 0 1 0 0 C9orf78 51759 broad.mit.edu 37 9 132591563 132591563 + Missense_Mutation SNP G G T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr9:132591563G>T ENST00000372447.3 - 8 752 c.699C>A c.(697-699)aaC>aaA p.N233K C9orf78_ENST00000461762.1_5'UTR NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 233 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) GTATGGGCGCGTTGAGCTCCT 0.557000 12 23 2.80697e-09 2.97813e-09 1 1 0 ZNF682 91120 broad.mit.edu 37 19 20117620 20117620 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr19:20117620A>G ENST00000397165.2 - 4 851 c.691T>C c.(691-693)Tgt>Cgt p.C231R ZNF682_ENST00000597972.1_Missense_Mutation_p.C237R|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.C155R|ZNF682_ENST00000358523.5_Missense_Mutation_p.C199R|ZNF682_ENST00000397162.1_Missense_Mutation_p.C199R NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 CATTCTTCACATTTGTATGGT 0.378000 12 17 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29599332 29599332 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr6:29599332G>A ENST00000377034.4 - 3 465 c.130C>T c.(130-132)Cgg>Tgg p.R44W GABBR1_ENST00000376977.3_Missense_Mutation_p.R44W|GABBR1_ENST00000377016.4_Missense_Mutation_p.R44W NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 44 Sushi 1. gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GTCAGGCCCCGGTACCTGATG 0.602000 38 85 0 0 1 0 0 METTL15 196074 broad.mit.edu 37 11 28318476 28318476 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr11:28318476C>T ENST00000342303.5 + 6 1231 c.776C>T c.(775-777)gCa>gTa p.A259V METTL15_ENST00000406787.3_Silent_p.C244C|METTL15_ENST00000407364.3_Missense_Mutation_p.A259V|METTL15_ENST00000303459.6_Missense_Mutation_p.A259V NM_152636.2 NP_689849.2 A6NJ78 MET15_HUMAN methyltransferase like 15 259 methyltransferase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 AGCATCGTTGCAGGTAGCCTC 0.468000 20 34 0 0 1 0 0 TP53INP1 94241 broad.mit.edu 37 8 95952430 95952430 + Nonsense_Mutation SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr8:95952430G>C ENST00000342697.4 - 3 538 c.131C>G c.(130-132)tCa>tGa p.S44* TP53INP1_ENST00000378776.4_Nonsense_Mutation_p.S44*|TP53INP1_ENST00000448464.2_Nonsense_Mutation_p.S44*|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 44 Glu-rich. apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) TTCTTCTGCTGAGAAACCAGT 0.463000 11 19 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109336 21109336 + Missense_Mutation SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr14:21109336T>C ENST00000320704.3 - 1 514 c.515A>G c.(514-516)aAg>aGg p.K172R NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) AGCACCCTGCTTACAGAAAGG 0.602000 21 28 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29735056 29735056 + Missense_Mutation SNP C C T rs145640648 by1000genomes TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr22:29735056C>T ENST00000357586.2 - 16 2272 c.2086G>A c.(2086-2088)Ggc>Agc p.G696S AP1B1_ENST00000402502.1_Missense_Mutation_p.G689S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G689S|AP1B1_ENST00000356015.2_Missense_Mutation_p.G689S|AP1B1_ENST00000317368.7_Missense_Mutation_p.G689S|AP1B1_ENST00000405198.1_Missense_Mutation_p.G696S|AP1B1_ENST00000432560.2_Missense_Mutation_p.G689S|AP1B1_ENST00000472057.1_5'UTR NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 696 Pro-rich (stalk region). endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGGCCACTGCCGATGGGTGCT 0.567000 44 79 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15468426 15468426 + Missense_Mutation SNP C C T rs148644578 byFrequency TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr2:15468426C>T ENST00000281513.5 - 37 4383 c.4358G>A c.(4357-4359)tGt>tAt p.C1453Y NBAS_ENST00000441750.1_Missense_Mutation_p.C1333Y NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1453 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGCACCACCACATTTTTGCCC 0.383000 31 48 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53165944 53165944 + Silent SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr12:53165944G>A ENST00000332411.2 - 5 1124 c.1071C>T c.(1069-1071)gtC>gtT p.V357V NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 357 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTGGGCGCGGACCTCGGCAA 0.587000 17 26 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21675544 21675544 + Missense_Mutation SNP T T A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr7:21675544T>A ENST00000328843.6 + 26 4602 c.4571T>A c.(4570-4572)gTg>gAg p.V1524E DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.V1519E Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1524 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATTGAGCAAGTGTTAAGCTGG 0.353000 Kartagener syndrome 4 9 0 0 1 0 0 PPP2CB 5516 broad.mit.edu 37 8 30657142 30657142 + Missense_Mutation SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr8:30657142T>C ENST00000221138.4 - 2 682 c.232A>G c.(232-234)Aca>Gca p.T78A PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 78 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) AAGTAGTTTGTATCCGGTGAT 0.383000 22 43 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803656 1803656 + Silent SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr4:1803656C>T ENST00000340107.4 + 7 1090 c.834C>T c.(832-834)taC>taT p.Y278Y FGFR3_ENST00000440486.2_Silent_p.Y278Y|FGFR3_ENST00000260795.2_Silent_p.Y278Y|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Silent_p.Y278Y|FGFR3_ENST00000352904.1_Silent_p.Y278Y|FGFR3_ENST00000412135.2_Silent_p.Y278Y NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 278 Ig-like C2-type 3. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GCAAGGTGTACAGTGACGCAC 0.672000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 12 15 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411798 105411798 + Silent SNP C C A rs150114169 by1000genomes TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr14:105411798C>A ENST00000333244.5 - 7 10109 c.9990G>T c.(9988-9990)tcG>tcT p.S3330S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3330 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACACATCCACCGAGGCCTGGA 0.597000 79 137 5.21738e-30 6.05216e-30 1 1 0 ATRIP 84126 broad.mit.edu 37 3 48500779 48500779 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:48500779G>A ENST00000412052.1 + 6 1034 c.572G>A c.(571-573)aGa>aAa p.R191K ATRIP_ENST00000320211.3_Missense_Mutation_p.R284K|ATRIP_ENST00000357105.6_Missense_Mutation_p.R157K|ATRIP_ENST00000346691.4_Missense_Mutation_p.R284K NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 284 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACAGTCTGAGAGGTGACTCC 0.418000 Other conserved DNA damage response genes 5 23 0 0 1 0 0 RSRC1 51319 broad.mit.edu 37 3 157841741 157841741 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:157841741A>G ENST00000464171.1 + 3 406 c.281A>G c.(280-282)tAt>tGt p.Y94C RSRC1_ENST00000312179.6_Missense_Mutation_p.Y94C|RSRC1_ENST00000480820.1_Missense_Mutation_p.Y94C|RSRC1_ENST00000295930.3_Missense_Mutation_p.Y94C|RSRC1_ENST00000475278.2_Missense_Mutation_p.Y94C NM_001271834.1 NP_001258763.1 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 94 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GGGAAATCCTATAGAGTTCAG 0.393000 24 26 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29397660 29397660 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr15:29397660C>T ENST00000558402.1 + 12 2202 c.1603C>T c.(1603-1605)Ccc>Tcc p.P535S APBA2_ENST00000558259.1_Missense_Mutation_p.P535S|APBA2_ENST00000558330.1_Missense_Mutation_p.P523S|APBA2_ENST00000411764.1_Missense_Mutation_p.P523S|APBA2_ENST00000561069.1_Missense_Mutation_p.P535S Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 535 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGGCATCAACCCCGAAGACTT 0.572000 13 24 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34204787 34204787 + Silent SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:34204787C>T ENST00000373381.4 - 15 2498 c.2322G>A c.(2320-2322)ctG>ctA p.L774L NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 734 CUB 5. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCCCTCCTTCAGGACGCAGG 0.617000 11 14 0 0 1 0 0 ELL3 80237 broad.mit.edu 37 15 44065412 44065412 + Missense_Mutation SNP A A T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr15:44065412A>T ENST00000319359.3 - 11 1737 c.1096T>A c.(1096-1098)Tac>Aac p.Y366N PDIA3_ENST00000300289.5_3'UTR|ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 366 positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter transcription elongation factor complex cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) TCTTCTCTGTAACTTGGGTAC 0.443000 25 40 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626709 122626709 + Missense_Mutation SNP C C A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr8:122626709C>A ENST00000303924.4 - 4 1836 c.1299G>T c.(1297-1299)atG>atT p.M433I NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 433 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ACATGAAGACCATGACGATAT 0.423000 33 72 1.61788e-16 1.82799e-16 1 1 0 SF3B3 23450 broad.mit.edu 37 16 70562835 70562835 + Missense_Mutation SNP G G T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr16:70562835G>T ENST00000302516.5 + 3 341 c.130G>T c.(130-132)Gac>Tac p.D44Y NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 44 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) GCTTCGCCCAGACCCCAACAC 0.463000 12 29 1.08611e-07 1.13845e-07 1 1 0 PAK7 57144 broad.mit.edu 37 20 9546583 9546583 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr20:9546583A>G ENST00000378429.3 - 6 1985 c.1439T>C c.(1438-1440)aTg>aCg p.M480T PAK7_ENST00000378423.1_Missense_Mutation_p.M480T|PAK7_ENST00000353224.5_Missense_Mutation_p.M480T NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 480 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCGGAGGTCCATTTTCTTCAC 0.448000 55 104 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7810216 7810216 + Silent SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr17:7810216T>C ENST00000380358.4 + 30 4711 c.4710T>C c.(4708-4710)cgT>cgC p.R1570R CHD3_ENST00000330494.7_Silent_p.R1511R|CHD3_ENST00000358181.4_Silent_p.R1511R NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1511 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCAATGGGCGTTGGTCAATGC 0.597000 31 93 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745981 140745981 + Missense_Mutation SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr5:140745981T>C ENST00000518069.1 + 1 2084 c.2084T>C c.(2083-2085)gTg>gCg p.V695A PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATCTTGTGGTGGCAGTGGCT 0.592000 112 197 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2539047 2539047 + Silent SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr18:2539047G>C ENST00000574538.1 - 9 2146 c.1371C>G c.(1369-1371)ctC>ctG p.L457L METTL4_ENST00000319888.6_3'UTR NM_022840.3 NP_073751.3 Q8N3J2 METL4_HUMAN methyltransferase like 4 457 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GCTGAAATTTGAGAACTTCAT 0.393000 22 44 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62522172 62522172 + Missense_Mutation SNP A A T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:62522172A>T ENST00000383710.4 - 12 2400 c.2051T>A c.(2050-2052)aTg>aAg p.M684K CADPS_ENST00000357948.3_Splice_Site_p.M684K|CADPS_ENST00000283269.9_Missense_Mutation_p.M684K NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 684 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GCGTTGTACCATCTCAAAGAG 0.373000 20 40 0 0 1 0 0 RALB 5899 broad.mit.edu 37 2 121047205 121047205 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr2:121047205G>A ENST00000272519.5 + 4 643 c.373G>A c.(373-375)Gtc>Atc p.V125I RALB_ENST00000474855.2_Missense_Mutation_p.V147I|RALB_ENST00000404963.3_Missense_Mutation_p.V146I|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Missense_Mutation_p.V125I NM_002881.2 NP_002872.1 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 125 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(154;0.122) TCCACTGCTCGTCGTGGGAAA 0.507000 28 55 0 0 1 0 0 INO80E 283899 broad.mit.edu 37 16 30012078 30012078 + Splice_Site SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr16:30012078G>C ENST00000563197.1 + 4 1222 c.e4-1 INO80E_ENST00000567705.1_Splice_Site|INO80E_ENST00000567254.1_Splice_Site|INO80E_ENST00000304516.7_Splice_Site NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 CCCCATCACAGACTCAGATGC 0.547000 10 18 0 0 1 0 0 C18orf54 162681 broad.mit.edu 37 18 51888300 51888300 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr18:51888300A>G ENST00000300091.5 + 3 903 c.571A>G c.(571-573)Ata>Gta p.I191V C18orf54_ENST00000382911.4_Missense_Mutation_p.I191V|C18orf54_ENST00000578138.1_Intron NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 191 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) ACGCTCAAATATAAATGGAAA 0.373000 7 17 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1723945 1723945 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr16:1723945A>G ENST00000397412.3 + 21 3808 c.3709A>G c.(3709-3711)Aat>Gat p.N1237D CRAMP1L_ENST00000262317.4_Missense_Mutation_p.N612D|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.N1234D|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.N1237D Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1237 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 TTCTCGGTTCAATGACCTGGC 0.562000 22 33 0 0 1 0 0 STARD3 10948 broad.mit.edu 37 17 37815024 37815024 + Silent SNP C C A rs142935105 byFrequency TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr17:37815024C>A ENST00000336308.5 + 7 815 c.597C>A c.(595-597)tcC>tcA p.S199S STARD3_ENST00000394250.4_Silent_p.S181S|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000580611.1_Silent_p.S173S|STARD3_ENST00000544210.2_Silent_p.S199S NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 199 MENTAL. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGCTGTTCTCCGGTGCTCTGT 0.617000 27 76 2.12542e-12 2.34065e-12 1 1 0 UTY 7404 broad.mit.edu 37 Y 15438105 15438105 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chrY:15438105A>G ENST00000331397.4 - 17 3676 c.2669T>C c.(2668-2670)aTt>aCt p.I890T UTY_ENST00000537580.1_Missense_Mutation_p.I811T|UTY_ENST00000329134.5_Missense_Mutation_p.I890T|UTY_ENST00000545955.1_Missense_Mutation_p.I965T|UTY_ENST00000382896.4_Missense_Mutation_p.I935T|UTY_ENST00000362096.4_Missense_Mutation_p.I890T|UTY_ENST00000538878.1_Missense_Mutation_p.I857T|UTY_ENST00000540140.1_Missense_Mutation_p.I887T NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 890 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ACTCACGTAAATACTAGGTGT 0.398000 38 16 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777766 237777766 + Missense_Mutation SNP C C A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:237777766C>A ENST00000366574.2 + 37 5655 c.5338C>A c.(5338-5340)Cca>Aca p.P1780T RYR2_ENST00000542537.1_Missense_Mutation_p.P1764T|RYR2_ENST00000360064.6_Missense_Mutation_p.P1778T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1780 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1778A(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCAGTACAGTCCAGAGTTCCC 0.532000 29 41 9.39395e-14 1.04779e-13 1 1 0 CYP7B1 9420 broad.mit.edu 37 8 65537041 65537041 + Missense_Mutation SNP G G T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr8:65537041G>T ENST00000310193.3 - 2 351 c.178C>A c.(178-180)Ctg>Atg p.L60M NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 60 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) CGTAAGTTCAGGACCACTCCA 0.378000 23 39 2.79863e-10 3.00594e-10 1 1 0 STAG1 10274 broad.mit.edu 37 3 136170920 136170920 + Silent SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:136170920A>G ENST00000383202.2 - 14 1639 c.1383T>C c.(1381-1383)aaT>aaC p.N461N STAG1_ENST00000536929.1_Silent_p.N45N|STAG1_ENST00000434713.2_Silent_p.N235N|STAG1_ENST00000236698.5_Silent_p.N461N NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 461 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TGAGGTTTCCATTCGGGCTGT 0.348000 20 35 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49659797 49659797 + Silent SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr15:49659797A>G ENST00000299338.6 - 13 1422 c.1119T>C c.(1117-1119)taT>taC p.Y373Y NM_152647.2 NP_689860.2 family with sequence similarity 227, member B CAGTACTACTATAGTGCGACT 0.318000 4 16 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2214798 2214798 + Silent SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr4:2214798C>T ENST00000511885.2 - 4 542 c.189G>A c.(187-189)agG>agA p.R63R POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.R63R Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 63 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) ATTGAGTCTTCCTGTCTTCAA 0.299000 DNA polymerases (catalytic subunits) 3 10 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245180 166245180 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr2:166245180C>T ENST00000357398.3 + 27 5154 c.4864C>T c.(4864-4866)Cct>Tct p.P1622S SCN2A_ENST00000283256.6_Missense_Mutation_p.P1622S|SCN2A_ENST00000375427.2_Missense_Mutation_p.P1622S|SCN2A_ENST00000375437.2_Missense_Mutation_p.P1622S Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1622 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTTTGTGTCCCCTACCCTGTT 0.408000 23 44 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 347109 347109 + Silent SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chrX:347109C>T ENST00000390665.3 - 1 336 c.318G>A c.(316-318)acG>acA p.T106T NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 106 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTACTACTCTCGTCCCTGCGG 0.692000 6 17 0 0 1 0 0 USP12 219333 broad.mit.edu 37 13 27669915 27669915 + Silent SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr13:27669915T>C ENST00000282344.6 - 4 652 c.396A>G c.(394-396)ctA>ctG p.L132L NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 132 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) TTGTATTTAGTAGGTAATTTA 0.274000 8 12 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61441772 61441772 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr2:61441772C>T ENST00000398571.2 - 68 8181 c.8105G>A c.(8104-8106)cGg>cAg p.R2702Q USP34_ENST00000472689.1_Intron NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2702 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCTTGTTGACCGGAACATCTG 0.443000 15 54 0 0 1 0 0 TSLP 85480 broad.mit.edu 37 5 110407688 110407688 + Missense_Mutation SNP T T A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr5:110407688T>A ENST00000420978.2 + 2 1522 c.100T>A c.(100-102)Tgt>Agt p.C34S TSLP_ENST00000344895.3_Missense_Mutation_p.C34S Q969D9 TSLP_HUMAN thymic stromal lymphopoietin 34 extracellular space cytokine activity p.C34S(2) breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109) CTTCACTAACTGTGACTTTGA 0.348000 15 29 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121195572 121195572 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:121195572G>A ENST00000264233.5 - 20 6348 c.6220C>T c.(6220-6222)Cgt>Tgt p.R2074C NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2074 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TCCACCTTACGGAAAACATCT 0.373000 DNA polymerases (catalytic subunits) 5 9 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36556922 36556922 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:36556922G>A ENST00000373178.4 + 2 319 c.289G>A c.(289-291)Gag>Aag p.E97K NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 97 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) GGCCTTTGACGAGGTGGACAT 0.577000 7 17 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124732354 124732354 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:124732354G>A ENST00000311127.4 - 6 2136 c.2069C>T c.(2068-2070)tCa>tTa p.S690L HEG1_ENST00000477536.1_5'UTR NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 690 Ser-rich. extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TGGTAAAATTGATGAAAATAA 0.483000 6 9 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157062551 157062551 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:157062551G>A ENST00000454449.2 - 5 1260 c.976C>T c.(976-978)Ccc>Tcc p.P326S NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 326 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) ACCTCCCTGGGATCCAGGCCT 0.602000 24 32 0 0 1 0 0 GPR62 118442 broad.mit.edu 37 3 51990465 51990465 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:51990465C>T ENST00000322241.4 + 1 1136 c.797C>T c.(796-798)gCg>gTg p.A266V NM_080865.3 NP_543141.3 Q9BZJ7 GPR62_HUMAN G protein-coupled receptor 62 266 Ala-rich. integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GCGCCCGCAGCGCGGGCCGCG 0.746000 3 1 0 0 1 0 0 PITHD1 57095 broad.mit.edu 37 1 24106391 24106391 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:24106391A>G ENST00000246151.4 + 3 391 c.280A>G c.(280-282)Atg>Gtg p.M94V NM_020362.4 NP_065095.2 Q9GZP4 PITH1_HUMAN PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 94 PITH. haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 6 CATCATTATAATGGGAGAGGA 0.433000 17 34 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455628 29455628 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr6:29455628A>G ENST00000377127.3 - 1 110 c.52T>C c.(52-54)Ttt>Ctt p.F18L NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 18 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GACTCAGCAAACACTGTCCAT 0.547000 7 18 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432828 73432828 + Silent SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr3:73432828C>T ENST00000263666.4 - 10 3003 c.2889G>A c.(2887-2889)gcG>gcA p.A963A PDZRN3_ENST00000462146.2_Silent_p.A620A|PDZRN3_ENST00000535920.1_Silent_p.A685A|PDZRN3_ENST00000466780.1_Silent_p.A620A|PDZRN3_ENST00000479530.1_Silent_p.A680A NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 963 ubiquitin-protein ligase activity|zinc ion binding p.A963A(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCTCGCTCACCGCGTCGTCGT 0.672000 28 59 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27368192 27368192 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr6:27368192G>A ENST00000244576.4 + 3 588 c.43G>A c.(43-45)Gaa>Aaa p.E15K NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 15 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E15*(2) endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 TCCTACAAATGAAGAAGACTA 0.423000 23 34 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11151198 11151198 + Missense_Mutation SNP G G T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:11151198G>T ENST00000544779.1 - 5 521 c.516C>A c.(514-516)ttC>ttA p.F172L EXOSC10_ENST00000304457.7_Missense_Mutation_p.F172L|EXOSC10_ENST00000376936.4_Missense_Mutation_p.F172L Q01780 EXOSX_HUMAN exosome component 10 172 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding p.F172L(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GAAGCAGCCGGAAAGTTTCAG 0.343000 38 51 2.75727e-19 3.15635e-19 1 1 0 SPON1 10418 broad.mit.edu 37 11 14276187 14276187 + RNA SNP T T G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr11:14276187T>G ENST00000310358.7 + 0 1539 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GCAGAAGATCTGTGCACCAAG 0.552000 20 34 0 0 1 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863060 10863060 + RNA SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr21:10863060C>T ENST00000559480.1 + 0 356 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GTGAGAGACACAATGTGAAAA 0.483000 62 295 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19473496 19473496 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr5:19473496A>G ENST00000507958.1 - 15 3202 c.2212T>C c.(2212-2214)Tat>Cat p.Y738H CDH18_ENST00000274170.4_Missense_Mutation_p.Y738H|CDH18_ENST00000382275.1_Missense_Mutation_p.Y738H|CDH18_ENST00000510297.1_5'UTR Q13634 CAD18_HUMAN cadherin 18, type 2 738 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCATAGGCATAAGTCTGAAGA 0.483000 10 27 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591822 591822 + Missense_Mutation SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chrX:591822G>C ENST00000381578.1 + 2 881 c.190G>C c.(190-192)Ggc>Cgc p.G64R SHOX_ENST00000334060.3_Missense_Mutation_p.G64R|SHOX_ENST00000554971.1_Missense_Mutation_p.G64R|SHOX_ENST00000381575.1_Missense_Mutation_p.G64R NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 64 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGAGGGCGGCGGCCACTGCCC 0.582000 35 44 0 0 1 0 0 PPP4C 5531 broad.mit.edu 37 16 30094853 30094853 + Missense_Mutation SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr16:30094853G>C ENST00000279387.7 + 6 610 c.442G>C c.(442-444)Gac>Cac p.D148H PPP4C_ENST00000561610.1_Missense_Mutation_p.D148H NM_002720.1 NP_002711.1 P60510 PP4C_HUMAN protein phosphatase 4, catalytic subunit 148 microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination centrosome|nucleus metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1) 9 TGAGATCTTTGACTACCTCAG 0.602000 16 20 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141335209 141335209 + Silent SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr5:141335209G>A ENST00000231484.3 - 1 3418 c.2208C>T c.(2206-2208)ttC>ttT p.F736F NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 736 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGGACATGAACAAAGCCA 0.592000 9 28 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29040838 29040838 + Missense_Mutation SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr18:29040838G>A ENST00000257189.4 + 7 810 c.727G>A c.(727-729)Gat>Aat p.D243N NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 243 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCAGACAAAGATGGAGAAGG 0.343000 5 16 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783764 47783764 + Missense_Mutation SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr21:47783764G>C ENST00000359568.5 + 14 2631 c.2524G>C c.(2524-2526)Gag>Cag p.E842Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 842 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.E842*(1)|p.E842K(1)|p.E842Q(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTGTGGGCGGGAGCCGCCCAC 0.662000 63 116 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183609317 183609317 + Splice_Site SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr4:183609317A>G ENST00000511685.1 + 12 2158 c.e12-1 TENM3_ENST00000406950.2_Splice_Site|TENM3_ENST00000502950.1_Splice_Site teneurin transmembrane protein 3 CCTCCCACATAGAAATATGTT 0.512000 48 67 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65628283 65628283 + Missense_Mutation SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr17:65628283G>C ENST00000580974.1 + 6 1087 c.391G>C c.(391-393)Gtg>Ctg p.V131L PITPNC1_ENST00000581322.1_Missense_Mutation_p.V131L|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V131L|PITPNC1_ENST00000299954.9_Missense_Mutation_p.V131L NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 131 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding p.V131L(1) breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) AGCCAAAGACGTGGAGAGAGA 0.433000 7 18 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139726772 139726772 + Missense_Mutation SNP G G T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr9:139726772G>T ENST00000371675.3 + 7 1195 c.310G>T c.(310-312)Ggc>Tgc p.G104C RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000371671.4_Missense_Mutation_p.G219C|RABL6_ENST00000432842.2_Missense_Mutation_p.G181C|RABL6_ENST00000371663.4_Missense_Mutation_p.G220C|RABL6_ENST00000311502.7_Missense_Mutation_p.G219C|RABL6_ENST00000357466.2_Missense_Mutation_p.G219C RAB, member RAS oncogene family-like 6 GAACAGCTTCGGCCTAAAGTA 0.488000 19 29 1.01871e-10 1.10785e-10 1 1 0 PPP2R3C 55012 broad.mit.edu 37 14 35565813 35565813 + Missense_Mutation SNP C C G rs147465664 byFrequency TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr14:35565813C>G ENST00000261475.5 - 9 1142 c.789G>C c.(787-789)gaG>gaC p.E263D NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 263 centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TTTCTTGACTCTCCTTGGACA 0.333000 15 35 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 5 12 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5212049 5212049 + Missense_Mutation SNP A A G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr17:5212049A>G ENST00000262477.6 + 2 319 c.95A>G c.(94-96)cAa>cGa p.Q32R RABEP1_ENST00000546142.2_Missense_Mutation_p.Q32R|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q32R|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q32R|RABEP1_ENST00000537505.1_Intron NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 32 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 TTACGTGCACAACAGCAGCTT 0.343000 18 20 0 0 1 0 0 CAPNS1 826 broad.mit.edu 37 19 36640691 36640691 + Silent SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr19:36640691C>T ENST00000587718.1 + 10 998 c.933C>T c.(931-933)ctC>ctT p.L311L CAPNS1_ENST00000246533.3_Intron|CAPNS1_ENST00000588780.1_Intron|CAPNS1_ENST00000588815.1_Intron|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000589146.1_Intron P04632 CPNS1_HUMAN calpain, small subunit 1 0 positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCCTGTCCTCACTCTCCACC 0.607000 12 36 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438821 120438821 + Missense_Mutation SNP C C G TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:120438821C>G ENST00000369400.1 - 1 297 c.139G>C c.(139-141)Gag>Cag p.E47Q NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 47 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CTCAGCTTCTCAGGAATGGTG 0.507000 13 23 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29888671 29888671 + Silent SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr16:29888671G>A ENST00000308713.5 - 11 2357 c.1830C>T c.(1828-1830)ccC>ccT p.P610P SEZ6L2_ENST00000350527.3_Silent_p.P540P|SEZ6L2_ENST00000537485.1_Silent_p.P566P|SEZ6L2_ENST00000346932.5_Silent_p.P496P NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 610 CUB 3. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTGTGAGGTCGGGCCCAGAGG 0.672000 10 15 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123179197 123179197 + Nonsense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chrX:123179197C>T ENST00000371160.1 + 8 936 c.646C>T c.(646-648)Cga>Tga p.R216* STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 216 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CAGAGCATTTCGACATACAAG 0.343000 37 8 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110754200 110754200 + Missense_Mutation SNP G G C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:110754200G>C ENST00000369787.3 + 1 106 c.79G>C c.(79-81)Gag>Cag p.E27Q KCNC4_ENST00000438661.2_Missense_Mutation_p.E27Q|KCNC4_ENST00000413138.3_Missense_Mutation_p.E27Q NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 27 Inactivation gate. synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) ATGTCTGAAGGAGGAGATGGC 0.627000 12 24 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234891724 234891724 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr2:234891724C>T ENST00000324695.4 + 20 2657 c.2617C>T c.(2617-2619)Ctc>Ttc p.L873F TRPM8_ENST00000433712.2_Missense_Mutation_p.L451F NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 873 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTTCCTGTTCCTCTTTGCGGT 0.607000 68 132 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48936855 48936855 + Missense_Mutation SNP T T C TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr15:48936855T>C ENST00000316623.5 - 2 567 c.112A>G c.(112-114)Aga>Gga p.R38G FBN1_ENST00000560355.1_Missense_Mutation_p.R38G NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 38 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGACTGGCTCTGGTTTCCTTC 0.582000 62 101 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626715 122626715 + Silent SNP G G A TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr8:122626715G>A ENST00000303924.4 - 4 1830 c.1293C>T c.(1291-1293)atC>atT p.I431I NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 431 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AGACCATGACGATATTTCCTC 0.423000 32 72 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100928218 100928218 + Missense_Mutation SNP C C T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:100928218C>T ENST00000336454.3 + 9 974 c.619C>T c.(619-621)Cac>Tac p.H207Y CDC14A_ENST00000370125.2_Silent_p.F177F|CDC14A_ENST00000370124.3_Missense_Mutation_p.H207Y|CDC14A_ENST00000544534.1_Missense_Mutation_p.H207Y|CDC14A_ENST00000361544.6_Missense_Mutation_p.H207Y|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000542213.1_Missense_Mutation_p.H149Y NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 207 B. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) TTATCCTCTTCACGCCCCTGA 0.403000 11 15 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27058083 27058083 + Frame_Shift_Del DEL C C - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:27058083delC ENST00000324856.7 + 3 2162 c.1791delC c.(1789-1791)ttcfs p.F597fs ARID1A_ENST00000374152.2_Frame_Shift_Del_p.F214fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.F597fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 597 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCAGCGCTTCCCTCCACCGC 0.582 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 91 --- --- --- --- MKNK1 8569 broad.mit.edu 37 1 47024369 47024369 + Frame_Shift_Del DEL C C - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr1:47024369delC ENST00000371946.4 - 14 1439 c.1276delG c.(1276-1278)gcafs p.A426fs MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Frame_Shift_Del_p.A290fs|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371945.4_Frame_Shift_Del_p.A385fs NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 426 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) TCAGCTAGTGCCTCTGGCTCC 0.622 14 39 --- --- --- --- MUC7 4589 broad.mit.edu 37 4 71347116 71347116 + Frame_Shift_Del DEL C C - rs41454651 byFrequency TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr4:71347116delC ENST00000413702.1 + 4 943 c.655delC c.(655-657)cctfs p.P219fs MUC7_ENST00000304887.5_Frame_Shift_Del_p.P219fs|MUC7_ENST00000456088.1_Frame_Shift_Del_p.P219fs NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 219 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) ACCCACACCTCCTGCAACTAC 0.587 50 122 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152702364 152702365 + Frame_Shift_Ins INS - - A rs143313866 TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr6:152702364_152702365insA ENST00000367255.5 - 56 9386_9387 c.8785_8786insT c.(8785-8787)gacfs p.D2929fs SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.D2968fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.D2929fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.D2936fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.D2936fs NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2929 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGCTTCCAGTCGGCACGCAGG 0.574 HNSCC(10;0.0054) 53 51 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151878427 151878427 + Frame_Shift_Del DEL G G - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr7:151878427delG ENST00000355193.2 - 36 6736 c.6518delC c.(6517-6519)ccafs p.P2173fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.P2173fs lysine (K)-specific methyltransferase 2C CTGACTATATGGGTCAACAGT 0.463 32 36 --- --- --- --- MARK2 2011 broad.mit.edu 37 11 63670556 63670556 + Frame_Shift_Del DEL A A - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr11:63670556delA ENST00000402010.2 + 14 2019 c.1440delA c.(1438-1440)acafs p.T480fs MARK2_ENST00000408948.3_Frame_Shift_Del_p.T446fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.T479fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.T480fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.T446fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.T446fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.T479fs|MARK2_ENST00000377809.4_Frame_Shift_Del_p.T480fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.T447fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.T480fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.T479fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.T480fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.T446fs NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 480 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CCACCAGCACAAATCGAAGCA 0.582 58 125 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77090412 77090412 + Frame_Shift_Del DEL G G - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr11:77090412delG ENST00000356341.3 - 4 844 c.313delC c.(313-315)cgcfs p.R105fs PAK1_ENST00000278568.4_Frame_Shift_Del_p.R105fs|PAK1_ENST00000528203.1_Frame_Shift_Del_p.R7fs|PAK1_ENST00000530617.1_Frame_Shift_Del_p.R105fs NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 105 Autoregulatory region.|GTPase-binding (By similarity). apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity p.R105S(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) TGAAGCAAGCGGGCCCACTGC 0.478 19 34 --- --- --- --- CREBBP 1387 broad.mit.edu 37 16 3819231 3819231 + Frame_Shift_Del DEL G G - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr16:3819231delG ENST00000262367.5 - 15 3813 c.3004delC c.(3004-3006)caafs p.Q1002fs CREBBP_ENST00000382070.3_Frame_Shift_Del_p.Q964fs NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1002 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCCTCTGCTTGGGTCTCCGTC 0.582 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 23 42 --- --- --- --- NINL 22981 broad.mit.edu 37 20 25436326 25436326 + Frame_Shift_Del DEL C C - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr20:25436326delC ENST00000278886.6 - 23 4013 c.3940delG c.(3940-3942)gatfs p.D1314fs NINL_ENST00000422516.1_Frame_Shift_Del_p.D965fs|NINL_ENST00000464285.1_5'UTR NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1314 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TTCAGCTTATCCACTTTCTCT 0.498 49 91 --- --- --- --- GTPBP1 9567 broad.mit.edu 37 22 39112986 39112987 + Frame_Shift_Ins INS - - T TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr22:39112986_39112987insT ENST00000216044.5 + 4 1048_1049 c.815_816insT c.(814-819)cctgacfs p.D273fs NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 273 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) GGCCATCTGCCTGACTTCTGCA 0.530 12 34 --- --- --- --- SELO 83642 broad.mit.edu 37 22 50649179 50649191 + Frame_Shift_Del DEL TGCCCCTGGAGCT TGCCCCTGGAGCT - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chr22:50649179_50649191delTGCCCCTGGAGCT ENST00000380903.2 + 5 1248_1260 c.1190_1202delTGCCCCTGGAGCT c.(1189-1203)ctgcccctggagctgfs p.LPLEL397fs SELO_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 Q9BVL4 SELO_HUMAN all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CAGCCGGAACTGCCCCTGGAGCTGGGGGAGGCC 0.657 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 62 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44942739 44942739 + Frame_Shift_Del DEL C C - TCGA-E7-A519-01A-11D-A26M-08 TCGA-E7-A519-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 272ccb50-e0b9-446b-a620-b5473caa7478 68fcc5b6-6be4-4bee-ac08-3c4dc59eab92 g.chrX:44942739delC ENST00000377967.4 + 23 3360 c.3319delC c.(3319-3321)cctfs p.P1107fs KDM6A_ENST00000536777.1_Frame_Shift_Del_p.P1062fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.P1028fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.P1114fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1107 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GACTAAACTTCCTGCTTTTGT 0.403 """D, N, F, S""" """renal, oesophageal SCC, MM""" 16 6 --- --- --- ---