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 BLMH 642 broad.mit.edu 37 17 28618498 28618498 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:28618498C>T ENST00000261714.6 - 2 216 c.42G>A c.(40-42)ctG>ctA p.L14L BLMH_ENST00000394819.3_5'UTR NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 14 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 GTTTCTGTATCAGAGCAGCTA 0.567000 49 61 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130493404 130493404 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:130493404G>A ENST00000373289.3 + 14 2422 c.2342G>A c.(2341-2343)cGg>cAg p.R781Q TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 781 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 GCTCGTGGCCGGAGCTGGAGA 0.622000 3 18 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217210 26217210 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:26217210G>A ENST00000303910.2 + 1 46 c.8G>A c.(7-9)gGa>gAa p.G3E NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 3 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) ACTATGTCTGGACGTGGAAAG 0.502000 32 40 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566217 136566217 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:136566217C>T ENST00000264162.2 - 8 3710 c.3700G>A c.(3700-3702)Gag>Aag p.E1234K NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1234 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCTCCTCCTCAGCCATCTCC 0.577000 78 90 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184947316 184947316 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:184947316G>C ENST00000231887.3 - 4 442 c.367C>G c.(367-369)Cca>Gca p.P123A EHHADH_ENST00000456310.1_Missense_Mutation_p.P27A|EHHADH_ENST00000475987.1_5'UTR NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 123 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GTAACTTCTGGTAAGCCAACT 0.473000 31 22 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154433 22154433 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:22154433G>C ENST00000397126.4 - 4 3551 c.3403C>G c.(3403-3405)Cat>Gat p.H1135D ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCCAGTATGAATTACCTTA 0.368000 53 65 0 0 1 0 0 EIF2S2 8894 broad.mit.edu 37 20 32693183 32693183 + Missense_Mutation SNP T T C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:32693183T>C ENST00000374980.2 - 2 405 c.184A>G c.(184-186)Agg>Ggg p.R62G NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 62 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 CCTTTTTTCCTAGTGTCCTCT 0.483000 5 566 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13714730 13714730 + Splice_Site SNP C C A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:13714730C>A ENST00000265104.4 - 75 13014 c.e75-1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGGCAAACTCTGAACAACAG 0.488000 Kartagener syndrome 14 23 4.3838e-07 4.49977e-07 1 1 0 MFHAS1 9258 broad.mit.edu 37 8 8747707 8747707 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr8:8747707G>A ENST00000276282.6 - 1 3448 c.2862C>T c.(2860-2862)acC>acT p.T954T NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 954 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) CTTGCCATGCGGTCCATATAT 0.522000 48 73 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186954356 186954356 + Splice_Site SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:186954356C>G ENST00000296280.6 - 11 1529 c.e11-1 MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TGACCACACTCTGTAAGGAGA 0.552000 50 185 0 0 1 0 0 CEP170 9859 broad.mit.edu 37 1 243349126 243349126 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:243349126C>G ENST00000366542.1 - 10 1572 c.1521G>C c.(1519-1521)gaG>gaC p.E507D CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron NM_014812.2 NP_055627.2 Q5SW79 CE170_HUMAN centrosomal protein 170kDa 507 centriole|microtubule|spindle NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 62 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TGTTGGGATTCTCTAACTCAA 0.348000 66 76 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122618381 122618381 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:122618381C>T ENST00000319080.6 + 9 1711 c.1579C>T c.(1579-1581)Cct>Tct p.P527S MLXIP_ENST00000377037.2_Missense_Mutation_p.P117S|MLXIP_ENST00000538698.1_Missense_Mutation_p.P134S Q9HAP2 MLXIP_HUMAN MLX interacting protein 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGCACTGTCTCCTGTCACCCG 0.627000 14 22 0 0 1 0 0 PARN 5073 broad.mit.edu 37 16 14540841 14540841 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:14540841C>T ENST00000437198.2 - 23 1909 c.1768G>A c.(1768-1770)Gag>Aag p.E590K PARN_ENST00000341484.7_Missense_Mutation_p.E529K|PARN_ENST00000420015.2_Missense_Mutation_p.E544K|PARN_ENST00000539279.1_Missense_Mutation_p.E415K NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 590 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding p.E590Q(2) cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 TGCTCAAGCTCAGTGTCGGAA 0.493000 49 72 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1231186 1231186 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:1231186G>A ENST00000590083.1 - 9 1360 c.1068C>T c.(1066-1068)ttC>ttT p.F356F C19orf26_ENST00000215376.6_Silent_p.F350F|C19orf26_ENST00000382477.2_Silent_p.F376F Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 376 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) TGTACTGGATGAAGTCCTCCT 0.692000 HNSCC(14;0.022) 41 53 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56348162 56348162 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:56348162G>A ENST00000340482.3 - 11 2365 c.2189C>T c.(2188-2190)tCa>tTa p.S730L MPO_ENST00000225275.3_Missense_Mutation_p.S698L P05164 PERM_HUMAN myeloperoxidase 698 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) CCGGGGCAATGAGATCTGGGC 0.547000 24 25 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21825383 21825383 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:21825383G>C ENST00000216297.2 - 22 2971 c.2633C>G c.(2632-2634)tCt>tGt p.S878C NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 878 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GGGGTCAAGAGAGGCTACAGG 0.433000 19 42 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36211785 36211785 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:36211785C>T ENST00000222270.7 + 3 1536 c.1536C>T c.(1534-1536)acC>acT p.T512T WBP7_ENST00000341701.1_Silent_p.T512T|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.T512T NM_014727.1 NP_055542.1 ACAGTCCCACCGTGGCCCCCA 0.652000 7 13 0 0 1 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860798 27860798 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:27860798C>G ENST00000359611.2 - 1 165 c.130G>C c.(130-132)Gtc>Ctc p.V44L HIST1H3J_ENST00000479986.1_5'UTR NM_003514.2 NP_003505.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 44 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2) 14 CCGGCCCCGACCCGCTCAGCG 0.657000 49 98 0 0 1 0 0 SESN2 83667 broad.mit.edu 37 1 28598203 28598203 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:28598203G>C ENST00000253063.3 + 3 496 c.175G>C c.(175-177)Gag>Cag p.E59Q NM_031459.4 NP_113647.1 P58004 SESN2_HUMAN sestrin 2 59 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) GGAGGGGGCTGAGAGCCTCGA 0.587000 22 40 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63416882 63416882 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:63416882C>G ENST00000322893.7 - 7 1606 c.1338G>C c.(1336-1338)aaG>aaC p.K446N KCNH5_ENST00000394968.1_Missense_Mutation_p.K388N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K388N|KCNH5_ENST00000420622.2_Missense_Mutation_p.K446N NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 446 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CCGAAAACATCTTCTCCACAT 0.383000 67 88 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99969386 99969386 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:99969386G>A ENST00000298999.3 + 5 1818 c.1515G>A c.(1513-1515)gtG>gtA p.V505V R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.V505V|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like ACAGTGCCGTGGGCATTGACC 0.408000 55 58 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45364505 45364505 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:45364505G>C ENST00000559488.1 + 6 863 c.847G>C c.(847-849)Gca>Cca p.A283P ITGB3_ENST00000560629.1_Missense_Mutation_p.S271T|ITGB3_ENST00000571680.1_Missense_Mutation_p.A283P|ITGB3_ENST00000435993.2_Missense_Mutation_p.A236P NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 283 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) GACTCATATAGCATTGGACGG 0.463000 66 75 0 0 1 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84547987 84547987 + RNA SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:84547987G>A ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA AAGTCTCATAGACGAAGCACT 0.458000 18 35 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62326478 62326478 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:62326478C>T ENST00000318100.4 + 33 4230 c.3403C>T c.(3403-3405)Ctg>Ttg p.L1135L RTEL1_ENST00000370003.1_Silent_p.L380L|RTEL1_ENST00000370018.3_Silent_p.L1135L|RTEL1_ENST00000360203.5_Silent_p.L1135L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1135L|RTEL1_ENST00000508582.2_Silent_p.L1159L Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 1135 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GTGCACAGACCTGACCGGCCG 0.642000 22 31 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53223011 53223011 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chrX:53223011C>T ENST00000452825.3 - 22 4392 c.3860G>A c.(3859-3861)gGa>gAa p.G1287E KDM5C_ENST00000404049.3_Missense_Mutation_p.G1353E|KDM5C_ENST00000375379.3_Missense_Mutation_p.G1354E|KDM5C_ENST00000375383.3_Missense_Mutation_p.G1313E|KDM5C_ENST00000375401.3_Missense_Mutation_p.G1354E NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1354 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CACACTGTCTCCATTCTCCAG 0.567000 """N, F, S""" clear cell renal carcinoma 14 5 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370281 240370281 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:240370281C>T ENST00000319653.9 + 5 2399 c.2169C>T c.(2167-2169)ctC>ctT p.L723L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 723 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATGTCTGTCTCGAAGCTCTCA 0.532000 22 29 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12298256 12298256 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:12298256G>A ENST00000343979.4 + 4 1203 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K ZNF136_ENST00000398616.2_Missense_Mutation_p.E289K NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 355 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TCAAATACATGAAAGGACTCA 0.403000 47 73 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120181742 120181742 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chrX:120181742G>C ENST00000328078.1 + 1 281 c.204G>C c.(202-204)aaG>aaC p.K68N NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 68 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) ACTTCTTCAAGATGGTGGAGG 0.672000 61 12 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92915514 92915514 + Missense_Mutation SNP C C A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:92915514C>A ENST00000532405.1 + 10 1060 c.834C>A c.(832-834)ttC>ttA p.F278L SLC24A4_ENST00000393265.2_Missense_Mutation_p.F214L|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F261L|SLC24A4_ENST00000531433.1_Intron Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 278 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GTAATGATTTCTATGACGGTA 0.502000 24 47 1.66031e-10 1.71329e-10 1 1 0 NIPBL 25836 broad.mit.edu 37 5 37044527 37044527 + Nonsense_Mutation SNP G G T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:37044527G>T ENST00000282516.8 + 35 6686 c.6187G>T c.(6187-6189)Gaa>Taa p.E2063* NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E2063* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2063 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) GCATCCAAGTGAAACTTTTCT 0.348000 41 59 6.5261e-18 6.7704e-18 1 1 0 ZSCAN2 54993 broad.mit.edu 37 15 85164921 85164921 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr15:85164921G>C ENST00000448803.2 + 3 1787 c.1495G>C c.(1495-1497)Gag>Cag p.E499Q ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E499Q|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E498Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E349Q|ZSCAN2_ENST00000485222.2_Intron NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 499 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCACACGGGAGAGAAACCCTA 0.592000 6 136 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97531637 97531637 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:97531637C>G ENST00000305476.5 - 4 420 c.288G>C c.(286-288)aaG>aaC p.K96N NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 96 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 TACACTCAGTCTTCTTCTCCA 0.597000 27 54 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211536 59211536 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:59211536G>C ENST00000302030.2 + 1 920 c.895G>C c.(895-897)Gag>Cag p.E299Q NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 GAGGAACAAAGAGATCAAGGA 0.433000 80 131 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70713746 70713746 + Nonsense_Mutation SNP C C A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:70713746C>A ENST00000338779.6 - 5 599 c.325G>T c.(325-327)Gag>Tag p.E109* NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 109 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TCGATGCGCTCCTGCAGCGGG 0.736000 10 20 9.31168e-06 9.50772e-06 1 1 0 PLEC 5339 broad.mit.edu 37 8 144995369 144995369 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr8:144995369C>T ENST00000322810.4 - 32 9200 c.9031G>A c.(9031-9033)Gac>Aac p.D3011N PLEC_ENST00000354958.2_Missense_Mutation_p.D2852N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2874N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2897N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2874N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2842N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2860N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2901N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2878N NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3011 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTCTCGGGGTCCTCCACGCAG 0.647000 53 88 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151873545 151873545 + Nonsense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:151873545G>C ENST00000355193.2 - 38 9211 c.8993C>G c.(8992-8994)tCa>tGa p.S2998* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S2998* lysine (K)-specific methyltransferase 2C GTTAACTGTTGATTGACCTGG 0.468000 114 26 0 0 1 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409823 22409823 + RNA SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:22409823G>C ENST00000390441.2 + 0 369 GTCAGACTCAGCGGTGTACTT 0.537000 16 71 0 0 1 0 0 ODF3L1 161753 broad.mit.edu 37 15 76019645 76019645 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr15:76019645G>A ENST00000332145.2 + 4 812 c.589G>A c.(589-591)Gga>Aga p.G197R NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 197 kidney(1)|lung(1) 2 GGATGTGGCAGGAGGCCCTGG 0.612000 29 41 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99757693 99757693 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:99757693C>T ENST00000360039.4 - 4 1711 c.1319G>A c.(1318-1320)cGg>cAg p.R440Q GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378Q|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440Q|GAL3ST4_ENST00000423751.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 440 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAATCCACTCCGAAGTATATA 0.557000 35 64 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31644226 31644226 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:31644226G>A ENST00000399332.1 - 4 982 c.494C>T c.(493-495)tCt>tTt p.S165F HECTD1_ENST00000553700.1_Missense_Mutation_p.S165F NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 165 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity p.S165C(1) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AGCCATAGCAGAGTGCAAGGT 0.418000 56 71 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73675676 73675676 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:73675676C>T ENST00000264448.6 + 8 2130 c.2019C>T c.(2017-2019)gaC>gaT p.D673D ALMS1_ENST00000409009.1_Silent_p.D631D|ALMS1_ENST00000377715.1_Silent_p.D673D NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 673 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ATGTAGAGGACCTCCTCTTTT 0.507000 59 87 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64684434 64684434 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:64684434C>T ENST00000413366.3 + 7 727 c.701C>T c.(700-702)tCa>tTa p.S234L NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 234 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) TTGAAACCTTCAGACAAAGAC 0.448000 40 62 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122617948 122617948 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:122617948C>T ENST00000319080.6 + 9 1278 c.1146C>T c.(1144-1146)ctC>ctT p.L382L MLXIP_ENST00000538698.1_5'UTR Q9HAP2 MLXIP_HUMAN MLX interacting protein 382 Transactivation domain. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CTGACAGCCTCATCGCGCCCC 0.607000 48 69 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21728274 21728274 + Missense_Mutation SNP G G T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:21728274G>T ENST00000388958.3 + 14 1536 c.1535G>T c.(1534-1536)gGg>gTg p.G512V OTOA_ENST00000286149.4_Missense_Mutation_p.G526V|OTOA_ENST00000388956.4_Missense_Mutation_p.G433V|OTOA_ENST00000388957.3_Missense_Mutation_p.G188V NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 526 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GAGATACAAGGGGCTTTCTTT 0.453000 95 132 8.13309e-56 8.66934e-56 1 1 0 KDR 3791 broad.mit.edu 37 4 55984812 55984812 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr4:55984812C>T ENST00000263923.4 - 3 612 c.317G>A c.(316-318)cGg>cAg p.R106Q NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 106 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GTCAGTTTCCCGGTAGAAGCA 0.438000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 4 123 0 0 1 0 0 MTCH2 23788 broad.mit.edu 37 11 47660546 47660546 + Missense_Mutation SNP A A G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:47660546A>G ENST00000302503.3 - 2 302 c.145T>C c.(145-147)Tgt>Cgt p.C49R MTCH2_ENST00000542981.1_5'UTR NM_014342.3 NP_055157.1 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 49 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 GGAAGCTGACACACTTGCCGC 0.383000 43 56 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 110223071 110223071 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr4:110223071G>A ENST00000399132.1 - 2 635 c.105C>T c.(103-105)gcC>gcT p.A35A COL25A1_ENST00000399126.1_Silent_p.A35A|COL25A1_ENST00000399127.1_Silent_p.A35A NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 35 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCGCCAGGACGGCACACGGGG 0.662000 38 60 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219180 180219180 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:180219180G>A ENST00000446023.2 - 3 1542 c.792C>T c.(790-792)ttC>ttT p.F264F MGAT1_ENST00000307826.4_Silent_p.F264F|MGAT1_ENST00000393340.3_Silent_p.F264F|MGAT1_ENST00000333055.3_Silent_p.F264F|MGAT1_ENST00000427865.2_Silent_p.F264F NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 264 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGCCAGGGAAAAAGTCGG 0.667000 39 46 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459540 56459540 + Missense_Mutation SNP G G A rs149738419 TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:56459540G>A ENST00000291971.3 + 1 343 c.272G>A c.(271-273)cGt>cAt p.R91H NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 91 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGATAGAGCGTTTCCCTGGA 0.512000 24 50 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76332495 76332495 + Nonsense_Mutation SNP G G T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:76332495G>T ENST00000312916.7 + 4 1013 c.631G>T c.(631-633)Gaa>Taa p.E211* NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 211 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) TAGTTATGATGAAAATACTGG 0.388000 43 94 8.16277e-20 8.55988e-20 1 1 0 DIP2C 22982 broad.mit.edu 37 10 436214 436214 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:436214G>A ENST00000280886.6 - 12 1571 c.1484C>T c.(1483-1485)gCg>gTg p.A495V DIP2C_ENST00000381496.3_Missense_Mutation_p.A388V NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 495 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTCAATATACGCAGTGTCGTT 0.517000 15 98 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121474984 121474984 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:121474984C>T ENST00000260197.7 + 33 4731 c.4602C>T c.(4600-4602)tgC>tgT p.C1534C SORL1_ENST00000525532.1_Silent_p.C478C|SORL1_ENST00000534286.1_Silent_p.C444C|SORL1_ENST00000532694.1_Silent_p.C380C|SORL1_ENST00000527934.1_Silent_p.C149C NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1534 LDL-receptor class A 11. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGGAGCGCTGCGACGGCTTCC 0.647000 55 8 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100786 89100786 + RNA SNP A A T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:89100786A>T ENST00000393525.3 + 0 1260 TGAAAGAAAAAGAACGCCAAT 0.313000 30 51 0 0 1 0 0 PROSER2 254427 broad.mit.edu 37 10 11911548 11911548 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:11911548G>A ENST00000277570.5 + 4 605 c.451G>A c.(451-453)Gac>Aac p.D151N PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA NM_153256.3 NP_694988.3 proline and serine-rich protein 2 TCCACCTCCAGACCCCCCGGC 0.692000 15 15 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718032 2718032 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:2718032C>T ENST00000382082.3 + 1 531 c.293C>T c.(292-294)aCg>aTg p.T98M NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 98 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CTGCTGTCCACGCTGAATGTG 0.682000 12 14 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30884369 30884369 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:30884369G>A ENST00000251071.5 - 6 1718 c.968C>T c.(967-969)gCc>gTc p.A323V CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A323V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A323V|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A323V NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 323 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CTTTTCCTTGGCATTTTTGGG 0.363000 38 25 0 0 1 0 0 RANBP6 26953 broad.mit.edu 37 9 6012686 6012686 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:6012686G>A ENST00000259569.5 - 1 2932 c.2922C>T c.(2920-2922)gtC>gtT p.V974V NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 974 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) CTGTAGCAATGACATTTTTTT 0.363000 37 71 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35515735 35515735 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:35515735G>A ENST00000378880.2 - 2 604 c.159C>T c.(157-159)tgC>tgT p.C53C PAMR1_ENST00000378878.3_Silent_p.C53C|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.C53C|PAMR1_ENST00000532848.1_Silent_p.C13C NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 53 Cys-rich. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CGGGGCAGACGCACTCAATCT 0.507000 5 145 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53960233 53960233 + RNA SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:53960233G>A ENST00000454407.1 + 0 2925 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATACTGGAGAGAAACCATAAA 0.403000 7 16 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284385 223284385 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:223284385G>A ENST00000540964.1 - 4 2450 c.1989C>T c.(1987-1989)ttC>ttT p.F663F TLR5_ENST00000342210.6_Silent_p.F663F O60602 TLR5_HUMAN toll-like receptor 5 663 Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AGAAGCCCCGGAACTTTGTGA 0.443000 5 75 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140762697 140762697 + Silent SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:140762697G>C ENST00000518325.1 + 1 231 c.231G>C c.(229-231)ctG>ctC p.L77L PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCGCCCTGAACCAGCGCA 0.622000 61 82 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71146832 71146832 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:71146832G>A ENST00000355527.3 - 9 1293 c.1017C>T c.(1015-1017)ggC>ggT p.G339G DHCR7_ENST00000407721.2_Silent_p.G339G NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 339 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) GCAGCAGGACGCCCACGGCGT 0.677000 Smith-Lemli-Opitz syndrome 22 36 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98760970 98760970 + Missense_Mutation SNP G G A rs147599893 TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:98760970G>A ENST00000266058.4 - 37 4749 c.4504C>T c.(4504-4506)Cgg>Tgg p.R1502W SLIT1_ENST00000371070.4_Silent_p.F1460F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1502 CTCK. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGCTTCAGCCGAAGGCCCTGG 0.647000 5 155 0 0 1 0 0 NUDT14 256281 broad.mit.edu 37 14 105643040 105643040 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:105643040G>A ENST00000392568.2 - 4 352 c.259C>T c.(259-261)Cgg>Tgg p.R87W RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 87 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity p.R87G(1) cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TGTAGCTCCCGAGGCCCGTCC 0.667000 HNSCC(42;0.11) 47 48 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18748409 18748409 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chrX:18748409G>A ENST00000361511.4 + 5 651 c.157G>A c.(157-159)Gaa>Aaa p.E53K PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.E53K|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.E53K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E53K NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 53 detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) ATATGCTGATGAACAAGGCCA 0.428000 101 11 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71419642 71419642 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:71419642C>G ENST00000392650.3 - 14 1780 c.1780G>C c.(1780-1782)Gag>Cag p.E594Q SDK2_ENST00000388726.3_Missense_Mutation_p.E594Q NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 594 Fibronectin type-III 1. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACTGGGTGCTCGGGCGCGTGG 0.612000 15 5 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859151 105859151 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:105859151G>A ENST00000258456.1 + 1 952 c.836G>A c.(835-837)tGc>tAc p.C279Y NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 279 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TTCTCCCTCTGCTGGCTGCCC 0.612000 23 241 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61556405 61556405 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:61556405C>G ENST00000290866.4 + 3 479 c.455C>G c.(454-456)tCc>tGc p.S152C ACE_ENST00000538928.1_Missense_Mutation_p.S152C|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S152C NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 152 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGGATCTACTCCACCGCCAAG 0.637000 OREG0024639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 17 0 0 1 0 0 PIDD 55367 broad.mit.edu 37 11 800350 800350 + Nonsense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:800350G>A ENST00000347755.5 - 13 2284 c.2143C>T c.(2143-2145)Cag>Tag p.Q715* PIDD_ENST00000411829.2_Intron NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 715 apoptosis|signal transduction cytoplasm|nucleus death receptor binding CGCACAGCCTGAGCCTCCCGG 0.642000 23 44 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148903144 148903144 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:148903144C>G ENST00000264613.6 - 12 2429 c.2167G>C c.(2167-2169)Gag>Cag p.E723Q CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 723 cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTGGAATCCTCAGACTGCCGC 0.478000 83 300 0 0 1 0 0 NPIPB4 440345 broad.mit.edu 37 16 21847243 21847243 + Nonsense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:21847243G>C ENST00000451409.1 - 9 2617 c.1790C>G c.(1789-1791)tCa>tGa p.S597* NPIPB4_ENST00000415645.2_Intron|NPIPB4_ENST00000357370.5_Nonsense_Mutation_p.S616*|NPIPB4_ENST00000537951.1_Intron nuclear pore complex interacting protein family, member B4 CAGGTGTCTTGATATTATCAT 0.597000 44 55 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157667192 157667192 + Silent SNP C C A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:157667192C>A ENST00000368184.3 - 6 873 c.582G>T c.(580-582)ctG>ctT p.L194L FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L194L NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 194 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AGCTGGCTCTCAGCACAGGAT 0.527000 19 48 0.000175454 0.00017821 1 1 0 DAXX 1616 broad.mit.edu 37 6 33288805 33288805 + Silent SNP G G A rs140033328 TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:33288805G>A ENST00000374542.5 - 3 951 c.747C>T c.(745-747)acC>acT p.T249T DAXX_ENST00000266000.6_Silent_p.T249T|DAXX_ENST00000414083.2_Silent_p.T174T|DAXX_ENST00000477162.1_Intron NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 249 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 TGACACGGCCGGTCAGTGAAG 0.582000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 35 59 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140127073 140127073 + Silent SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:140127073C>G ENST00000538474.1 + 4 446 c.222C>G c.(220-222)ctC>ctG p.L74L SLC34A3_ENST00000361134.2_Silent_p.L74L NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 74 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCAGCGTCCTCAAGGCCTGCG 0.692000 74 75 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 107 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71445160 71445160 + Missense_Mutation SNP T T G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:71445160T>G ENST00000304743.2 + 6 2552 c.2106T>G c.(2104-2106)aaT>aaG p.N702K PCNX_ENST00000238570.5_Missense_Mutation_p.N702K|PCNX_ENST00000439984.3_Missense_Mutation_p.N702K NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 702 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CATGTTTGAATGACTCAAACA 0.473000 62 72 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98515050 98515050 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:98515050G>A ENST00000359863.4 + 20 2579 c.2370G>A c.(2368-2370)ctG>ctA p.L790L TRRAP_ENST00000446306.3_Silent_p.L789L|TRRAP_ENST00000355540.3_Silent_p.L790L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 790 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CCCTAGGGCTGAACATGCTTC 0.582000 106 15 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138178050 138178050 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:138178050C>T ENST00000389567.4 + 5 789 c.603C>T c.(601-603)atC>atT p.I201I ESYT3_ENST00000289135.4_Silent_p.I201I NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 201 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 ACTGTGAGATCAGTGTGGAGC 0.602000 78 253 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98606091 98606091 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:98606091C>T ENST00000359863.4 + 69 11012 c.10803C>T c.(10801-10803)tgC>tgT p.C3601C TRRAP_ENST00000446306.3_Silent_p.C3590C|TRRAP_ENST00000355540.3_Silent_p.C3572C NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3601 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCAGCGCTGCGCCAAGAAGG 0.617000 54 81 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98386580 98386580 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:98386580G>A ENST00000339364.5 - 10 1673 c.1554C>T c.(1552-1554)gaC>gaT p.D518D PIK3AP1_ENST00000371110.2_Silent_p.D340D|PIK3AP1_ENST00000371109.3_Silent_p.D117D NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 518 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) AGGCCTCATCGTCATCCACCG 0.552000 41 66 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19414202 19414202 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:19414202C>T ENST00000247001.5 - 6 1065 c.718G>A c.(718-720)Gag>Aag p.E240K SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 240 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TTTCTTATCTCAGCCACCTTC 0.507000 64 75 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39934241 39934241 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:39934241C>T ENST00000281961.2 + 3 623 c.567C>T c.(565-567)ctC>ctT p.L189L TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A CCGTCCTTCTCTGCGGCTGCA 0.512000 39 38 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131246304 131246304 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:131246304G>A ENST00000303890.5 + 13 1588 c.1003G>A c.(1003-1005)Gag>Aag p.E335K ODF2_ENST00000372791.3_Missense_Mutation_p.E340K|ODF2_ENST00000372796.4_Missense_Mutation_p.E359K|ODF2_ENST00000546203.1_Missense_Mutation_p.E340K|ODF2_ENST00000372807.5_Missense_Mutation_p.E354K|ODF2_ENST00000393533.2_Missense_Mutation_p.E359K|ODF2_ENST00000444119.2_Missense_Mutation_p.E335K|ODF2_ENST00000448249.3_Missense_Mutation_p.E278K|ODF2_ENST00000372814.3_Missense_Mutation_p.E403K|ODF2_ENST00000434106.2_Missense_Mutation_p.E359K|ODF2_ENST00000351030.3_Missense_Mutation_p.E354K NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 359 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 CAAAGAGGCTGAGAACAGTCG 0.557000 42 42 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160025845 160025845 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:160025845C>T ENST00000327245.5 - 22 4342 c.3496G>A c.(3496-3498)Gac>Aac p.D1166N NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1166 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGTCTTTGTCAAGGACTCCA 0.483000 160 178 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414043 179414043 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:179414043G>C ENST00000589042.1 - 339 92534 c.92310C>G c.(92308-92310)atC>atG p.I30770M TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I21705M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I21830M|TTN_ENST00000342992.6_Missense_Mutation_p.I28202M|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I21897M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29129M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29129 Fibronectin type-III 124. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCGTTTGCTGATCACTTTTA 0.428000 46 78 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44981932 44981932 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:44981932G>C ENST00000221327.4 - 5 1047 c.766C>G c.(766-768)Cag>Gag p.Q256E ZNF180_ENST00000592529.1_Missense_Mutation_p.Q229E|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q231E NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) TGAATGCTCTGAGGGGGTTTT 0.353000 95 118 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8389622 8389622 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:8389622C>T ENST00000330915.3 - 9 2240 c.2175G>A c.(2173-2175)caG>caA p.Q725Q KANK3_ENST00000593649.1_Silent_p.Q725Q NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 725 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CATCCGCATCCTGCGCATTCA 0.657000 6 77 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75530782 75530782 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:75530782C>G ENST00000339365.2 + 24 3376 c.3214C>G c.(3214-3216)Ctg>Gtg p.L1072V SEC24C_ENST00000540668.1_Missense_Mutation_p.L320V|SEC24C_ENST00000535742.1_Missense_Mutation_p.L320V|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1072V|SEC24C_ENST00000411652.2_Missense_Mutation_p.L953V NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 1072 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) AGACAAGAGTCTGAGTGGGGG 0.493000 90 117 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17688095 17688095 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr22:17688095G>C ENST00000399839.1 - 3 678 c.408C>G c.(406-408)atC>atG p.I136M CECR1_ENST00000262607.3_Missense_Mutation_p.I136M|CECR1_ENST00000399837.2_Missense_Mutation_p.I136M|CECR1_ENST00000449907.2_Missense_Mutation_p.I94M Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 136 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGGTGAAACAGATGTGGCAGT 0.527000 5 167 0 0 1 0 0 PROSER2 254427 broad.mit.edu 37 10 11911722 11911722 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:11911722G>A ENST00000277570.5 + 4 779 c.625G>A c.(625-627)Gaa>Aaa p.E209K PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Missense_Mutation_p.E13K|PROSER2-AS1_ENST00000453242.1_RNA NM_153256.3 NP_694988.3 proline and serine-rich protein 2 GGCGGGGAACGAAGCCCTCTC 0.741000 3 5 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140127032 140127032 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:140127032C>T ENST00000538474.1 + 4 405 c.181C>T c.(181-183)Cgc>Tgc p.R61C SLC34A3_ENST00000361134.2_Missense_Mutation_p.R61C NM_001177316.1|NM_001177317.1 NP_001170787.1|NP_001170788.1 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 61 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CTCAGAGCTCCGCGTGGCCGG 0.682000 38 50 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13727702 13727702 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:13727702G>A ENST00000265104.4 - 70 12051 c.11947C>T c.(11947-11949)Ctt>Ttt p.L3983F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3983 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L3983F(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCATTTGGAAGAGGTTCCTCC 0.413000 Kartagener syndrome 44 52 0 0 1 0 0 PRPF3 9129 broad.mit.edu 37 1 150312892 150312892 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:150312892G>C ENST00000324862.6 + 9 1386 c.1221G>C c.(1219-1221)aaG>aaC p.K407N PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K358N|PRPF3_ENST00000543398.1_Missense_Mutation_p.E271Q NM_004698.2 NP_004689.1 O43395 PRPF3_HUMAN pre-mRNA processing factor 3 407 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) AAAATCCCAAGAGAGAAGATT 0.378000 26 47 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87928350 87928350 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:87928350G>A ENST00000369577.3 + 4 482 c.439G>A c.(439-441)Gaa>Aaa p.E147K ZNF292_ENST00000339907.4_Missense_Mutation_p.E147K|ZNF292_ENST00000369578.2_3'UTR NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TGGCAGCTGTGAATTGCATTT 0.383000 3 1 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55601988 55601988 + Missense_Mutation SNP A A G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:55601988A>G ENST00000436346.1 - 4 1146 c.305T>C c.(304-306)tTg>tCg p.L102S CCDC88A_ENST00000413716.2_Missense_Mutation_p.L102S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L102S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L102S NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 102 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GACATTTGGCAACGACATCAT 0.308000 67 125 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180311336 180311336 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:180311336C>T ENST00000410066.1 - 7 1435 c.832G>A c.(832-834)Gaa>Aaa p.E278K ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.E176K|ZNF385B_ENST00000409343.1_Missense_Mutation_p.E202K|ZNF385B_ENST00000336917.5_Missense_Mutation_p.E176K NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 278 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GCTTTTTCTTCTTCTGATTCA 0.463000 46 60 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13339234 13339234 + RNA SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr4:13339234G>A ENST00000602906.1 + 0 862 kidney(3)|lung(1) 4 AACTTTATCCGTGGTGTGGTT 0.418000 16 19 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100463561 100463561 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:100463561G>A ENST00000354161.3 + 14 2204 c.2079G>A c.(2077-2079)atG>atA p.M693I NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 693 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCTCAAGATGAACAAGAATG 0.692000 106 13 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48166709 48166709 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:48166709G>A ENST00000244043.4 - 2 121 c.92C>T c.(91-93)cCc>cTc p.P31L PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 31 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CAGGTCCAGGGGAGGCTCACC 0.527000 43 54 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263204 39263204 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr13:39263204G>A ENST00000280481.7 + 1 1939 c.1723G>A c.(1723-1725)Gaa>Aaa p.E575K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 575 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGCAGAGGGTGAAACAGTGCC 0.537000 22 43 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 302467 302467 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:302467G>A ENST00000428720.1 - 14 2249 c.1506C>T c.(1504-1506)ctC>ctT p.L502L SLC6A12_ENST00000536824.1_Silent_p.L502L|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000424061.2_Silent_p.L502L|SLC6A12_ENST00000397296.2_Silent_p.L502L|SLC6A12_ENST00000359674.4_Silent_p.L502L NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 502 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GGGTCAGGAAGAGCCAGGAGA 0.592000 31 11 0 0 1 0 0 SKA2 348235 broad.mit.edu 37 17 57196839 57196839 + Silent SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:57196839G>C ENST00000330137.7 - 3 243 c.138C>G c.(136-138)ctC>ctG p.L46L SKA2_ENST00000580541.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Silent_p.L46L|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000578105.1_Silent_p.L17L|SKA2_ENST00000583927.1_Intron NM_182620.3 NP_872426.1 Q8WVK7 SKA2_HUMAN spindle and kinetochore associated complex subunit 2 46 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding lung(4) 4 ATTCCTTTAAGAGTGTAACTG 0.323000 4 143 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133527593 133527593 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chrX:133527593G>A ENST00000332070.3 + 4 505 c.303G>A c.(301-303)agG>agA p.R101R PHF6_ENST00000370799.1_Silent_p.R101R|PHF6_ENST00000370803.3_Silent_p.R101R|PHF6_ENST00000416404.2_Silent_p.R67R|PHF6_ENST00000370800.4_Silent_p.R101R|PHF6_ENST00000394292.1_Silent_p.R101R NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) CATGTCACAGGACATACCACT 0.343000 """F, N, Splice, Mis""" ETP ALL 86 6 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58232845 58232845 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:58232845G>A ENST00000317398.6 - 4 704 c.609C>T c.(607-609)ttC>ttT p.F203F AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.F105F NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGTCTGTACTGAACCAGAATT 0.493000 61 61 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155233062 155233062 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:155233062G>A ENST00000368361.4 - 13 1762 c.1447C>T c.(1447-1449)Cgg>Tgg p.R483W CLK2_ENST00000536801.1_Missense_Mutation_p.R483W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R481W|CLK2_ENST00000361168.5_Missense_Mutation_p.R482W P49760 CLK2_HUMAN CDC-like kinase 2 483 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGCTCAGCCCGAAGGCGGGCG 0.572000 Other conserved DNA damage response genes 26 36 0 0 1 0 0 CEP72 55722 broad.mit.edu 37 5 635560 635560 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:635560G>A ENST00000264935.5 + 6 855 c.765G>A c.(763-765)acG>acA p.T255T CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 255 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GCCGTGAGACGAGGAGGAGCA 0.542000 17 25 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15688893 15688893 + Missense_Mutation SNP C C T rs142735096 TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:15688893C>T ENST00000378076.3 - 12 1512 c.1159G>A c.(1159-1161)Ggt>Agt p.G387S NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 387 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 ATAGCACTACCGAATCTCCCA 0.478000 24 52 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140168205 140168205 + Missense_Mutation SNP C C A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:140168205C>A ENST00000504120.2 + 1 2330 c.2330C>A c.(2329-2331)tCt>tAt p.S777Y PCDHA1_ENST00000378133.3_Missense_Mutation_p.S777Y|PCDHA1_ENST00000394633.3_Intron 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) CCAGGCCTATCTCCAAGTCTT 0.498000 4 82 0.150653 0.150653 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62284339 62284339 + Silent SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:62284339C>G ENST00000378024.4 - 5 17824 c.17550G>C c.(17548-17550)ggG>ggC p.G5850G AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5850 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACACCCCACTCCCCTGTAACT 0.532000 91 127 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69633616 69633616 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr8:69633616G>C ENST00000337103.4 + 9 2607 c.1015G>C c.(1015-1017)Gaa>Caa p.E339Q C8orf34_ENST00000325233.3_Missense_Mutation_p.E108Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E364Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E450Q Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 364 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGGGACTGAAGAAGCACTAAT 0.294000 20 39 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16464522 16464522 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:16464522C>T ENST00000358432.5 - 5 1292 c.1138G>A c.(1138-1140)Gag>Aag p.E380K NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 380 Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACACTGGCCTCACACGGCCCG 0.657000 31 21 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42170772 42170772 + Nonsense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:42170772G>A ENST00000225983.6 - 5 762 c.439C>T c.(439-441)Cag>Tag p.Q147* HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000393622.2_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q146* Q9UQL6 HDAC5_HUMAN histone deacetylase 5 146 R -> G (in Ref. 6; BX458255). B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) tgctcccgctgccgctgctgc 0.642000 11 16 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110394259 110394259 + Nonsense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr4:110394259C>G ENST00000265175.5 + 3 1032 c.977C>G c.(976-978)tCa>tGa p.S326* SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S326*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S357* NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 326 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) GGATCCTCATCAACAAGAACA 0.438000 31 59 0 0 1 0 0 SLC23A1 9963 broad.mit.edu 37 5 138715753 138715753 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:138715753C>T ENST00000353963.3 - 7 710 c.672G>A c.(670-672)ctG>ctA p.L224L SLC23A1_ENST00000348729.3_Silent_p.L220L NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 220 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) AGAGGATGATCAGGAGAATGG 0.592000 9 12 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69143614 69143614 + Missense_Mutation SNP C C T rs146829742 TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:69143614C>T ENST00000306560.1 + 2 472 c.316C>T c.(316-318)Cgc>Tgc p.R106C HAS3_ENST00000569188.1_Missense_Mutation_p.R106C|HAS3_ENST00000219322.3_Missense_Mutation_p.R106C NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 106 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) CAAGTGCCTGCGCTCGGCCCA 0.657000 33 36 0 0 1 0 0 KPNA1 3836 broad.mit.edu 37 3 122186243 122186243 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:122186243C>T ENST00000344337.6 - 3 339 c.163G>A c.(163-165)Gaa>Aaa p.E55K NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 55 IBB. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TCTGTTTCTTCTTCTGCTGTA 0.363000 28 88 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6194321 6194321 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:6194321C>T ENST00000306177.5 + 15 3294 c.3136C>T c.(3136-3138)Cgg>Tgg p.R1046W NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 1046 Arg-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TGGCTGGGGCCGGGAGAAGTT 0.677000 9 7 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714086 183714086 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr4:183714086C>G ENST00000511685.1 + 26 6384 c.6261C>G c.(6259-6261)atC>atG p.I2087M TENM3_ENST00000406950.2_Missense_Mutation_p.I2087M teneurin transmembrane protein 3 ATGGCCGTATCAAGGAGATTC 0.378000 22 26 0 0 1 0 0 IGLV5-52 28779 broad.mit.edu 37 22 22673296 22673296 + RNA SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr22:22673296C>G ENST00000390289.2 + 0 94 LL22NC03-80A10.6_ENST00000426066.1_RNA TCTTCCCATTCTGCATCTTCT 0.517000 95 176 0 0 1 0 0 ZNF747 65988 broad.mit.edu 37 16 30544358 30544358 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:30544358G>A ENST00000535210.1 - 3 627 c.455C>T c.(454-456)gCc>gTc p.A152V ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000569360.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR Q9BV97 ZN747_HUMAN zinc finger protein 747 40 regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 CTCCAACCCGGCAAAGGGGGC 0.682000 4 69 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572383 186572383 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:186572383G>A ENST00000412955.2 + 3 766 c.625G>A c.(625-627)Gac>Aac p.D209N ADIPOQ_ENST00000320741.2_Missense_Mutation_p.D209N|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.D209N|ADIPOQ-AS1_ENST00000422718.1_RNA Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 209 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGAGGTGGGCGACCAAGTCTG 0.507000 93 99 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40852293 40852293 + Missense_Mutation SNP A A G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:40852293A>G ENST00000254691.5 + 3 1058 c.859A>G c.(859-861)Aaa>Gaa p.K287E CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 287 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAAGGTGTTTAAAGATGTCCT 0.378000 25 39 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102302509 102302509 + Missense_Mutation SNP T T C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:102302509T>C ENST00000370103.4 - 2 355 c.142A>G c.(142-144)Aca>Gca p.T48A OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.T68A|OLFM3_ENST00000359814.3_Missense_Mutation_p.T68A NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 68 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GCAACAACTGTGCAAATGCAC 0.498000 42 51 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113638916 113638916 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:113638916G>A ENST00000361127.4 + 8 1218 c.1020G>A c.(1018-1020)ttG>ttA p.L340L NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 340 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TGGAGAGATTGAATTTAGGAG 0.398000 89 118 0 0 1 0 0 SPATA1 100505741 broad.mit.edu 37 1 84982061 84982061 + RNA SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:84982061C>T ENST00000370638.2 + 0 284 spermatogenesis associated 1 breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1) 10 Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111) CAATCCAAGTCGACCTTCCTC 0.274000 6 5 0 0 1 0 0 VASN 114990 broad.mit.edu 37 16 4431562 4431562 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:4431562G>A ENST00000304735.3 + 2 839 c.684G>A c.(682-684)ctG>ctA p.L228L CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 228 extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 ACAACCAGCTGGAGCGAGTGC 0.711000 5 10 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85664082 85664082 + Missense_Mutation SNP G G T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr15:85664082G>T ENST00000310298.4 + 19 2041 c.1789G>T c.(1789-1791)Gat>Tat p.D597Y PDE8A_ENST00000557957.1_Missense_Mutation_p.D525Y|PDE8A_ENST00000339708.5_Missense_Mutation_p.D551Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.D597Y O60658 PDE8A_HUMAN phosphodiesterase 8A 597 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) CACCATTCATGATGTGGATCA 0.483000 10 193 0.000978159 0.000988348 1 1 0 TENM2 57451 broad.mit.edu 37 5 167689329 167689329 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:167689329C>T ENST00000519204.1 + 28 7594 c.7476C>T c.(7474-7476)atC>atT p.I2492I TENM2_ENST00000545108.1_Silent_p.I2612I|TENM2_ENST00000520394.1_Silent_p.I2374I|TENM2_ENST00000518659.1_Silent_p.I2613I|TENM2_ENST00000403607.2_Silent_p.I2437I teneurin transmembrane protein 2 ACTACAGCATCGAGGGCAAGG 0.597000 9 11 0 0 1 0 0 DDN 23109 broad.mit.edu 37 12 49392030 49392030 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:49392030C>G ENST00000421952.2 - 2 650 c.629G>C c.(628-630)aGa>aCa p.R210T NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 210 Interaction with MAGI2. dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 GGCAGAACCTCTCAGCAGCAG 0.726000 19 22 0 0 1 0 0 DMTN 2039 broad.mit.edu 37 8 21925182 21925182 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr8:21925182C>T ENST00000358242.3 + 4 731 c.238C>T c.(238-240)Cgc>Tgc p.R80C DMTN_ENST00000443491.2_Missense_Mutation_p.R55C|DMTN_ENST00000415253.1_Missense_Mutation_p.R80C|DMTN_ENST00000523266.1_Missense_Mutation_p.R80C|DMTN_ENST00000265800.5_Missense_Mutation_p.R80C|DMTN_ENST00000519907.1_Missense_Mutation_p.R80C|DMTN_ENST00000381470.3_Missense_Mutation_p.R80C|DMTN_ENST00000523782.2_Missense_Mutation_p.R55C|DMTN_ENST00000432128.1_Missense_Mutation_p.R80C|DMTN_ENST00000517600.1_Missense_Mutation_p.R55C dematin actin binding protein GGAGCTGCCTCGCAGCCGCGA 0.652000 24 32 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26527508 26527508 + Missense_Mutation SNP A A T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:26527508A>T ENST00000456354.2 + 8 1242 c.1175A>T c.(1174-1176)aAg>aTg p.K392M NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 392 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) AGGCAGTACAAGGAGATCCGA 0.562000 4 89 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 133015481 133015481 + Splice_Site SNP A A T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr8:133015481A>T ENST00000254624.5 + 22 2535 c.e22-1 EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000521940.1_Splice_Site NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TCTTTTTTGCAGGCAAATTTG 0.294000 4 104 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31194536 31194536 + Missense_Mutation SNP G G A rs145452251 TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:31194536G>A ENST00000373765.4 - 2 192 c.157C>T c.(157-159)Cgg>Tgg p.R53W MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 53 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TCAACAGGCCGAACGCTGCGA 0.607000 70 68 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114886635 114886635 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:114886635C>T ENST00000374270.3 - 6 960 c.788G>A c.(787-789)cGc>cAc p.R263H SUSD1_ENST00000374264.2_Missense_Mutation_p.R263H|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.R263H NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 263 Sushi 2. integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ACAGACATAGCGAGCCACACC 0.522000 5 154 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115389442 115389442 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:115389442C>T ENST00000369358.4 - 19 2213 c.1969G>A c.(1969-1971)Gac>Aac p.D657N NRAP_ENST00000369360.3_Missense_Mutation_p.D622N|NRAP_ENST00000359988.3_Missense_Mutation_p.D649N|NRAP_ENST00000360478.3_Missense_Mutation_p.D614N Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 649 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TAGTCCAGGTCACTGGCGAGA 0.493000 41 66 0 0 1 0 0 HSPBP1 23640 broad.mit.edu 37 19 55776691 55776691 + Silent SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:55776691G>C ENST00000255631.5 - 8 1270 c.960C>G c.(958-960)ctC>ctG p.L320L HSPBP1_ENST00000376343.3_Silent_p.L218L|HSPBP1_ENST00000433386.2_Silent_p.L320L|HSPBP1_ENST00000587922.1_Silent_p.L320L NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 323 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding p.L320L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GGTGGCGGAGGAGCTCCTCCA 0.657000 82 89 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 80063916 80063916 + Missense_Mutation SNP G G T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:80063916G>T ENST00000265081.6 + 14 2141 c.2061G>T c.(2059-2061)aaG>aaT p.K687N NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 687 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATTACTTAAAGATACTCAATG 0.398000 Mismatch excision repair (MMR) 51 57 2.69953e-25 2.84625e-25 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49423200 49423200 + Nonsense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:49423200G>A ENST00000301067.7 - 43 14058 c.14059C>T c.(14059-14061)Cag>Tag p.Q4687* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCCTCAGTCTGATTGTGAGGG 0.542000 8 7 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25966997 25966997 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:25966997G>A ENST00000357085.3 + 3 723 c.247G>A c.(247-249)Gcc>Acc p.A83T TRIM38_ENST00000349458.3_Missense_Mutation_p.A83T NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 83 positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 CCTCATTGAAGCCCTCAAAGA 0.542000 22 40 0 0 1 0 0 NFU1 27247 broad.mit.edu 37 2 69659119 69659119 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:69659119C>G ENST00000410022.2 - 2 286 c.81G>C c.(79-81)aaG>aaC p.K27N NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.K3N NM_001002755.2 NP_001002755.1 Q9UMS0 NFU1_HUMAN NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) 27 iron-sulfur cluster assembly cytosol|mitochondrion|nucleus 4 iron, 4 sulfur cluster binding|iron ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 7 TGTATGGATTCTTCAACATAT 0.353000 19 35 0 0 1 0 0 NELFCD 51497 broad.mit.edu 37 20 57565975 57565975 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:57565975G>A ENST00000602795.1 + 8 901 c.853G>A c.(853-855)Gcc>Acc p.A285T NELFCD_ENST00000344018.3_Missense_Mutation_p.A276T negative elongation factor complex member C/D p.A276P(1) AGGTCATGACGCCAGTCAGAT 0.507000 4 123 0 0 1 0 0 ZNF431 170959 broad.mit.edu 37 19 21365997 21365997 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:21365997C>T ENST00000311048.7 + 5 1035 c.891C>T c.(889-891)ttC>ttT p.F297F ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 GCAAAGCCTTCAACCGGTCCT 0.408000 6 142 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446921 85446921 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:85446921C>G ENST00000369663.5 - 8 1643 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 436 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TTGTAGGTCTCTGCCAAAGAT 0.612000 35 9 0 0 1 0 0 MTF2 22823 broad.mit.edu 37 1 93575922 93575922 + Missense_Mutation SNP A A T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:93575922A>T ENST00000370298.4 + 2 430 c.141A>T c.(139-141)gaA>gaT p.E47D MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.E47D NM_001164392.1|NM_007358.3 NP_001157864.1|NP_031384.1 Q9Y483 MTF2_HUMAN metal response element binding transcription factor 2 47 nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) GTAAATTTGAAGAGGGTCAGG 0.418000 4 161 0 0 1 0 0 SKP2 6502 broad.mit.edu 37 5 36163786 36163786 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:36163786G>C ENST00000274255.6 + 3 516 c.320G>C c.(319-321)gGa>gCa p.G107A SKP2_ENST00000274254.5_Missense_Mutation_p.G107A|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 107 F-box. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGCTCTTGGGAATCTTTTCC 0.478000 26 40 0 0 1 0 0 KGFLP2 654466 broad.mit.edu 37 9 41963929 41963929 + RNA SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr9:41963929G>C ENST00000454645.1 - 0 666 NR_003670.1 CTACTGTCCTGATTTCCATGA 0.398000 9 127 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3726181 3726181 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:3726181G>C ENST00000254963.2 + 6 640 c.495G>C c.(493-495)aaG>aaC p.K165N HSPA12B_ENST00000542646.1_5'UTR NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 165 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 TAAATGGAAAGACGATGCCCG 0.637000 32 58 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101606073 101606073 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr15:101606073G>A ENST00000284395.5 + 33 5822 c.5422G>A c.(5422-5424)Gac>Aac p.D1808N LRRK1_ENST00000388948.3_Missense_Mutation_p.D1811N|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1811 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCCTGAGGGGGACTCCATCGC 0.632000 27 38 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7230030 7230030 + Splice_Site SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:7230030C>G ENST00000399464.2 - 4 1107 c.1092_splice c.e4+1 p.E364_splice NEURL4_ENST00000315614.7_Splice_Site_p.E364_splice|NEURL4_ENST00000570460.1_Splice_Site_p.E342_splice NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTTTGCACACCTCAAACATCT 0.557000 12 27 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30705086 30705086 + Missense_Mutation SNP T T C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr8:30705086T>C ENST00000256246.2 - 1 1522 c.1448A>G c.(1447-1449)gAg>gGg p.E483G NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 483 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCTTTAGCCTCATTTTGGTT 0.328000 6 243 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141812813 141812813 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:141812813C>T ENST00000389484.3 - 10 2395 c.1424G>A c.(1423-1425)tGt>tAt p.C475Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 475 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCGACTTCACATGCATGGCT 0.418000 TSP Lung(27;0.18) 4 80 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71495348 71495348 + Missense_Mutation SNP A A G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr5:71495348A>G ENST00000296755.7 + 5 6464 c.6166A>G c.(6166-6168)Aca>Gca p.T2056A NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 2056 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCAGGCATCCACATATTCCTA 0.463000 23 122 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70729300 70729300 + Missense_Mutation SNP C C A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:70729300C>A ENST00000229195.3 + 8 1311 c.732C>A c.(730-732)aaC>aaA p.N244K CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N244K NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GAAGTGGTAACCCAACTCCAT 0.413000 55 90 9.79885e-19 1.02203e-18 1 1 0 CTAGE5 4253 broad.mit.edu 37 14 39818085 39818085 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr14:39818085C>G ENST00000553728.1 + 27 3970 c.3757C>G c.(3757-3759)Cct>Gct p.P1253A CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P718A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P638A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P723A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P675A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P643A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P689A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P706A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P718A AAGAGGACCTCCTTTCCCCCC 0.532000 11 231 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33577935 33577935 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:33577935C>T ENST00000262873.7 + 19 2104 c.2012C>T c.(2011-2013)gCg>gTg p.A671V NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 629 Actin-binding (By similarity).|Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity p.A671V(2) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGAATTATGCGGGCTCCTGC 0.547000 9 1083 0 0 1 0 0 ALKBH7 84266 broad.mit.edu 37 19 6374950 6374950 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:6374950C>T ENST00000245812.3 + 4 1020 c.632C>T c.(631-633)cCa>cTa p.P211L ALKBH7_ENST00000599849.1_Missense_Mutation_p.P150L|ALKBH7_ENST00000596657.1_Missense_Mutation_p.P69L NM_032306.3 NP_115682.1 Q9BT30 ALKB7_HUMAN alkB, alkylation repair homolog 7 (E. coli) 211 extracellular region|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 GGCATGGGGCCAGGGGAGTCT 0.612000 31 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179392441 179392441 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:179392441C>G ENST00000589042.1 - 362 107636 c.107412G>C c.(107410-107412)ttG>ttC p.L35804F TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L26739F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26864F|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L33236F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26931F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L34163F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34163 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACTTGTTCTCAATACTACCT 0.468000 20 27 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150710425 150710425 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:150710425C>T ENST00000297494.3 + 25 3570 c.3213C>T c.(3211-3213)ggC>ggT p.G1071G ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Silent_p.G865G NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 1071 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGGTGTTTGGCCGAGTCCTCA 0.617000 OREG0018443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 75 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 10 418 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57074583 57074583 + Silent SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr16:57074583C>G ENST00000436936.1 + 17 3117 c.2892C>G c.(2890-2892)ctC>ctG p.L964L NLRC5_ENST00000308149.7_Silent_p.L964L|NLRC5_ENST00000539144.1_Silent_p.L964L|NLRC5_ENST00000262510.6_Silent_p.L964L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 964 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TTGACAGCCTCATGCTCCAGA 0.602000 38 51 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49867055 49867055 + Missense_Mutation SNP C C G TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:49867055C>G ENST00000331456.2 - 13 1344 c.1231G>C c.(1231-1233)Gat>Cat p.D411H TRAIP_ENST00000469027.1_Missense_Mutation_p.D256H NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 411 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCACCACATCTTTGCTGCAA 0.572000 28 47 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458578 45458578 + RNA SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr12:45458578G>A ENST00000548424.1 + 0 448 ACAAACTGTCGGCTACTAGAG 0.463000 12 26 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46929948 46929948 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr17:46929948G>A ENST00000258947.3 + 8 884 c.783G>A c.(781-783)ctG>ctA p.L261L CALCOCO2_ENST00000416445.2_Silent_p.L219L|CALCOCO2_ENST00000448105.2_Silent_p.L285L|CALCOCO2_ENST00000509507.1_Silent_p.L282L|CALCOCO2_ENST00000508679.1_Silent_p.L189L NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 261 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 TAGAGCAGCTGAAAAAGGAAA 0.388000 49 40 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049848 42049848 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:42049848G>A ENST00000372584.1 - 3 1635 c.621C>T c.(619-621)ctC>ctT p.L207L HIVEP3_ENST00000429157.2_Silent_p.L207L|HIVEP3_ENST00000372583.1_Silent_p.L207L|HIVEP3_ENST00000247584.5_Silent_p.L207L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 207 ZAS1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGTGCTTCTGGAGCACGCTGG 0.582000 47 50 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3180497 3180497 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr10:3180497C>T ENST00000380989.2 - 26 2991 c.2953G>A c.(2953-2955)Gag>Aag p.E985K PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.E886K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E542K|PITRM1_ENST00000224949.4_Missense_Mutation_p.E984K NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 886 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TGCTTCATCTCATCCGAGAGG 0.607000 38 43 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41193508 41193508 + Translation_Start_Site SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chrX:41193508G>C ENST00000399959.2 + 1 858 c.3G>C c.(1-3)atG>atC p.M1I DDX3X_ENST00000441189.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000457138.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 1 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 CTTCAGGGATGAGTCATGTGG 0.612000 HNSCC(61;0.18) 12 3 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44261974 44261974 + Missense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr18:44261974G>A ENST00000315087.7 - 6 1283 c.623C>T c.(622-624)aCg>aTg p.T208M ST8SIA5_ENST00000536490.1_Missense_Mutation_p.T177M|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.T244M|ST8SIA5_ENST00000590497.1_5'UTR NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 208 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GACCACATCCGTCTTCACCCC 0.532000 27 31 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54818780 54818780 + Missense_Mutation SNP C C T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr19:54818780C>T ENST00000301219.3 - 7 937 c.818G>A c.(817-819)gGc>gAc p.G273D LILRA5_ENST00000346508.3_Missense_Mutation_p.G261D NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 273 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGATCAAGCCGGCCATGCC 0.537000 45 75 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28609991 28609991 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr7:28609991G>A ENST00000357727.2 + 5 690 c.300G>A c.(298-300)tcG>tcA p.S100S CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000409603.1_Silent_p.S67S|CREB5_ENST00000396300.2_Silent_p.S93S NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 100 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGAATATCTCGATGCATAATG 0.517000 6 115 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31674465 31674465 + Silent SNP T T C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:31674465T>C ENST00000295770.2 + 15 2435 c.2226T>C c.(2224-2226)cgT>cgC p.R742R NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 742 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 ACCGAACACGTAATGCTGAGA 0.368000 6 148 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16450954 16450954 + Missense_Mutation SNP G G C TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:16450954G>C ENST00000334133.4 - 4 641 c.369C>G c.(367-369)atC>atG p.I123M RFTN1_ENST00000432519.1_Missense_Mutation_p.I87M NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 123 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 CTAATTCCAAGATGTAGCCTT 0.418000 36 54 0 0 1 0 0 PARD6G 84552 broad.mit.edu 37 18 77918383 77918383 + Silent SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr18:77918383G>A ENST00000353265.3 - 3 599 c.402C>T c.(400-402)atC>atT p.I134I AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 134 Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB. cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) GCGGGAGGCCGATGTCCAGGT 0.731000 6 6 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200619732 200619732 + Nonsense_Mutation SNP G G A TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:200619732G>A ENST00000447706.2 - 5 1286 c.1135C>T c.(1135-1137)Cag>Tag p.Q379* DDX59_ENST00000367348.3_Nonsense_Mutation_p.Q379*|DDX59_ENST00000331314.6_Nonsense_Mutation_p.Q379* Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 379 Helicase ATP-binding. intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 AAAATGGTCTGACAATCATTA 0.363000 40 55 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087901 27087902 + Frame_Shift_Ins INS - - GT TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr1:27087901_27087902insGT ENST00000324856.7 + 6 2559_2560 c.2188_2189insGT c.(2188-2190)tggfs p.W730fs ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.W730fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.W347fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 730 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 p.R727fs*12(1)|p.P728fs(1) 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) TCGGCCACCCAGTGGCCAGTCG 0.530 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 24 63 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 7 105 --- --- --- --- LINC01158 100506421 broad.mit.edu 37 2 105440927 105440929 + RNA DEL TGG TGG - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr2:105440927_105440929delTGG ENST00000458253.1 - 0 147 AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA gtggtggtgatggtggtggtggt 0.591 5 7 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 9 240 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 7 110 --- --- --- --- ETV7 51513 broad.mit.edu 37 6 36341235 36341235 + Frame_Shift_Del DEL G G - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr6:36341235delG ENST00000373738.1 - 3 1108 c.263delC c.(262-264)cgfs p.P88fs ETV7_ENST00000339796.5_Frame_Shift_Del_p.P143fs|ETV7_ENST00000340181.4_Frame_Shift_Del_p.P143fs|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000373737.4_Frame_Shift_Del_p.P143fs NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 143 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CTCACCTTCCGGGGGGACTGG 0.597 2 4 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89403521 89403522 + RNA INS - - T TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr11:89403521_89403522insT ENST00000532352.1 + 0 908 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GTTTTGTTTTGTTTTTTTTCAA 0.332 31 40 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54547341 54547347 + Frame_Shift_Del DEL TGAGGGA TGAGGGA - TCGA-RS-A6TP-01A-12D-A34J-08 TCGA-RS-A6TP-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx a866e3eb-84ab-4a03-82a6-1bfef7869e49 dee93deb-7249-4f7a-a59b-d4fa5acc13e6 g.chr18:54547341_54547347delTGAGGGA ENST00000254442.3 + 21 3682_3688 c.3471_3477delTGAGGGA c.(3469-3477)ccfs p.PEG1157fs WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Del_p.PEG1124fs NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1157 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GCCAAATTCCTGAGGGATTCGGGTTGA 0.411 17 40 --- --- --- ---