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 ANAPC1 64682 broad.mit.edu 37 2 112608431 112608431 + Silent SNP T T G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:112608431T>G ENST00000341068.3 - 14 2344 c.1572A>C c.(1570-1572)acA>acC p.T524T NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 524 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GCCGAGGCATTGTGTTGGACA 0.433000 35 33 0 0 0.006230 0 0 NRXN2 9379 broad.mit.edu 37 11 64434761 64434761 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:64434761C>T ENST00000265459.6 - 9 2220 c.1759G>A c.(1759-1761)Gag>Aag p.E587K NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 587 Laminin G-like 3. cell adhesion integral to membrane metal ion binding p.E587K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TGACACCACTCGCCATCATTG 0.592000 21 76 0 0 0.010504 0 0 CSN3 1448 broad.mit.edu 37 4 71114802 71114802 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:71114802G>C ENST00000304954.3 + 4 261 c.175G>C c.(175-177)Gga>Cga p.G59R NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 59 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TCCTTATTATGGAACCAATTT 0.388000 20 63 0 0 0.002299 0 0 NR0B2 8431 broad.mit.edu 37 1 27238458 27238458 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:27238458G>A ENST00000254227.3 - 2 677 c.652C>T c.(652-654)Ctc>Ttc p.L218F NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 218 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCCGTGAGGAGGACACGGGTC 0.622000 22 91 0 0 0.002299 0 0 FANCG 2189 broad.mit.edu 37 9 35077366 35077366 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:35077366G>A ENST00000378643.3 - 5 1032 c.541C>T c.(541-543)Ctg>Ttg p.L181L NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 181 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CAAGTTTTCAGAAGTAACAGC 0.517000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 16 65 0 0 0.006122 0 0 ZNF70 7621 broad.mit.edu 37 22 24087105 24087105 + Nonsense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:24087105G>A ENST00000341976.3 - 2 683 c.223C>T c.(223-225)Cag>Tag p.Q75* NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 75 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 CTTTGATGCTGAACAGGGCTT 0.493000 47 88 0 0 0.013114 0 0 SYMPK 8189 broad.mit.edu 37 19 46332275 46332275 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:46332275G>A ENST00000245934.7 - 14 2182 c.1938C>T c.(1936-1938)ctC>ctT p.L646L NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 646 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ACAGGCGGATGAGGCAGTCCT 0.652000 30 57 0 0 0.008361 0 0 COL9A1 1297 broad.mit.edu 37 6 70935673 70935673 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:70935673C>A ENST00000357250.6 - 37 2701 c.2543G>T c.(2542-2544)aGa>aTa p.R848I COL9A1_ENST00000320755.7_Missense_Mutation_p.R605I|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.R605I NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 848 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GTTGGGACCTCTTCCTGGAGG 0.453000 21 40 1.96895e-08 2.9082e-08 0.002780 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367750 145367750 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:145367750G>A ENST00000342960.5 + 83 10381 c.10346G>A c.(10345-10347)gGa>gAa p.G3449E NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3449 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aaaagaaggggaagaagatca 0.418000 5 90 0 0 0.000602 0 0 HELLS 3070 broad.mit.edu 37 10 96352226 96352226 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:96352226C>T ENST00000348459.5 + 17 2031 c.1926C>T c.(1924-1926)ttC>ttT p.F642F HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Silent_p.F688F|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Silent_p.F544F NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 642 Helicase C-terminal. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) ATTTCAACTTCAGCAGGCTTG 0.338000 30 29 0 0 0.008361 0 0 SLC5A1 6523 broad.mit.edu 37 22 32498169 32498169 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:32498169C>G ENST00000266088.4 + 13 1860 c.1610C>G c.(1609-1611)tCt>tGt p.S537C SLC5A1_ENST00000543737.1_Missense_Mutation_p.S410C NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 537 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TTCGCCATTTCTTTCATCACC 0.488000 13 115 0 0 0.001855 0 0 BGLAP 632 broad.mit.edu 37 1 156212041 156212041 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:156212041C>T ENST00000368272.4 + 1 289 c.19C>T c.(19-21)Ctc>Ttc p.L7F PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000490491.1_Intron NM_199173.4 NP_954642.1 P02818 OSTCN_HUMAN bone gamma-carboxyglutamate (gla) protein 7 bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation calcium ion binding|hydroxyapatite binding|structural constituent of bone p.L7I(1) large_intestine(3)|lung(1)|urinary_tract(1) 5 Hepatocellular(266;0.158) Phytonadione(DB01022) CCTCACACTCCTCGCCCTATT 0.657000 8 28 0 0 0.003080 0 0 CR2 1380 broad.mit.edu 37 1 207642005 207642005 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:207642005G>A ENST00000367057.3 + 3 768 c.579G>A c.(577-579)aaG>aaA p.K193K CR2_ENST00000367059.3_Silent_p.K193K|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.K193K|CR2_ENST00000367058.3_Silent_p.K193K NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 193 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTGGAGAAAAGATCATTAACT 0.428000 17 107 0 0 0.006122 0 0 CHD7 55636 broad.mit.edu 37 8 61654172 61654172 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr8:61654172C>G ENST00000423902.2 + 2 660 c.181C>G c.(181-183)Caa>Gaa p.Q61E CHD7_ENST00000524602.1_Missense_Mutation_p.Q61E|CHD7_ENST00000525508.1_Missense_Mutation_p.Q61E NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 61 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTCAACTAATCAAAATCAAAC 0.413000 4 13 0 0 0.000602 0 0 EDNRA 1909 broad.mit.edu 37 4 148463668 148463668 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:148463668G>A ENST00000324300.5 + 8 1697 c.1182G>A c.(1180-1182)ctG>ctA p.L394L EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_Silent_p.L169L|EDNRA_ENST00000506066.1_Silent_p.L285L|EDNRA_ENST00000358556.4_Silent_p.L285L NM_001957.3 NP_001948.1 P25101 EDNRA_HUMAN endothelin receptor type A 394 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CCAAAAGTCTGATGACCTCGG 0.537000 11 45 0 0 0.010729 0 0 NOBOX 135935 broad.mit.edu 37 7 144101655 144101655 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:144101655G>C ENST00000467773.1 - 2 203 c.204C>G c.(202-204)ctC>ctG p.L68L NOBOX_ENST00000483238.1_Silent_p.L68L NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 68 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) GTACTGATTTGAGGGTCTCCA 0.552000 12 19 0 0 0.010729 0 0 ZNF827 152485 broad.mit.edu 37 4 146686228 146686228 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:146686228C>G ENST00000508784.1 - 13 3369 c.3142G>C c.(3142-3144)Gag>Cag p.E1048Q ZNF827_ENST00000379448.4_Missense_Mutation_p.E1048Q|ZNF827_ENST00000513320.1_Missense_Mutation_p.E698Q Q17R98 ZN827_HUMAN zinc finger protein 827 1048 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) ACATCACACTCAAACATCCGG 0.498000 13 52 0 0 0.003163 0 0 ANKRD26 22852 broad.mit.edu 37 10 27311576 27311576 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:27311576C>T ENST00000376087.4 - 29 4291 c.4126G>A c.(4126-4128)Gaa>Aaa p.E1376K ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1392K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E933K NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1375 centrosome p.E1376K(1) breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TTTTCATATTCATTTAACTTC 0.249000 4 42 0 0 0.000602 0 0 KIF20B 9585 broad.mit.edu 37 10 91479204 91479204 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:91479204C>G ENST00000416354.1 + 13 1535 c.1463C>G c.(1462-1464)tCt>tGt p.S488C KIF20B_ENST00000371728.3_Missense_Mutation_p.S488C|KIF20B_ENST00000260753.4_Missense_Mutation_p.S488C|KIF20B_ENST00000394289.2_Missense_Mutation_p.S488C Q96Q89 KI20B_HUMAN kinesin family member 20B 488 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TTAAATTCCTCTCAAGAGAAA 0.299000 11 29 0 0 0.001368 0 0 NARF 26502 broad.mit.edu 37 17 80422294 80422294 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:80422294G>A ENST00000309794.11 + 3 438 c.240G>A c.(238-240)ctG>ctA p.L80L NARF_ENST00000345415.7_Intron|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000390006.4_Silent_p.L21L|NARF_ENST00000457415.3_Silent_p.L80L|NARF_ENST00000581743.1_3'UTR NM_012336.3|NM_031968.2 NP_036468.1|NP_114174.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TCCGCGTTCTGAACCTTAACA 0.532000 21 38 0 0 0.012319 0 0 CELF1 10658 broad.mit.edu 37 11 47498979 47498979 + Splice_Site SNP T T C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:47498979T>C ENST00000395290.2 - 8 770 c.e8-2 CELF1_ENST00000358597.3_Splice_Site|CELF1_ENST00000532048.1_Splice_Site|CELF1_ENST00000310513.5_Splice_Site|CELF1_ENST00000361904.3_Splice_Site|CELF1_ENST00000531165.1_Splice_Site|CELF1_ENST00000395292.2_Splice_Site NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 CATTCAACCCTACAACATCCA 0.488000 13 44 0 0 0.001855 0 0 LPCAT1 79888 broad.mit.edu 37 5 1463832 1463832 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:1463832G>A ENST00000283415.3 - 14 1671 c.1539C>T c.(1537-1539)ttC>ttT p.F513F LPCAT1_ENST00000503252.1_5'UTR NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 513 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) AATCGGCACAGAAGCCGTTTG 0.582000 8 175 0 0 0.003080 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499486 34499486 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:34499486G>A ENST00000538621.1 + 9 1392 c.1147G>A c.(1147-1149)Gac>Aac p.D383N PACSIN1_ENST00000374043.2_Missense_Mutation_p.D341N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.D383N NM_001199583.2 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 383 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CCCCTTTGAGGACGACTCCAA 0.657000 35 185 0 0 0.003271 0 0 PCF11 51585 broad.mit.edu 37 11 82877286 82877286 + Silent SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:82877286C>A ENST00000298281.4 + 5 1799 c.1347C>A c.(1345-1347)atC>atA p.I449I NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 449 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GAAATAAAATCATAAATGGCA 0.378000 5 18 1.26484e-09 1.88823e-09 0.003080 1 0 SLC24A1 9187 broad.mit.edu 37 15 65946369 65946369 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:65946369C>G ENST00000261892.6 + 10 3539 c.3252C>G c.(3250-3252)atC>atG p.I1084M SLC24A1_ENST00000546330.1_Missense_Mutation_p.I1066M|SLC24A1_ENST00000399033.4_Missense_Mutation_p.I1054M|SLC24A1_ENST00000544319.2_Missense_Mutation_p.I970M|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.I1066M NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1084 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TCCTGATAATCAGTGTGATGT 0.408000 21 63 0 0 0.010504 0 0 KSR2 283455 broad.mit.edu 37 12 117968788 117968788 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:117968788C>T ENST00000425217.1 - 12 1727 c.1673G>A c.(1672-1674)cGg>cAg p.R558Q KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R587Q|KSR2_ENST00000302438.5_Missense_Mutation_p.R284Q NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 587 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGGGGCGCCCGGGTCGGCGT 0.557000 28 68 0 0 0.010818 0 0 ATP10B 23120 broad.mit.edu 37 5 160033898 160033898 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:160033898C>G ENST00000327245.5 - 19 3880 c.3034G>C c.(3034-3036)Gag>Cag p.E1012Q NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1012 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) AACTTCTTCTCTAGCTTTCCC 0.507000 13 73 0 0 0.001368 0 0 AIM1 202 broad.mit.edu 37 6 106969025 106969025 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:106969025C>T ENST00000369066.3 + 2 3205 c.2718C>T c.(2716-2718)ttC>ttT p.F906F NM_001624.2 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 906 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TCTTCAATTTCAACTCGTCAA 0.458000 19 99 0 0 0.008871 0 0 DNAH5 1767 broad.mit.edu 37 5 13862767 13862767 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:13862767G>A ENST00000265104.4 - 29 4790 c.4686C>T c.(4684-4686)ttC>ttT p.F1562F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1562 Stem (By similarity). 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) TAAAGCTGCCGAAGGTGAATG 0.458000 Kartagener syndrome 16 284 0 0 0.006122 0 0 NNT 23530 broad.mit.edu 37 5 43649344 43649344 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:43649344C>G ENST00000264663.5 + 11 1761 c.1540C>G c.(1540-1542)Cat>Gat p.H514D NNT_ENST00000344920.4_Missense_Mutation_p.H514D|NNT_ENST00000512996.2_Missense_Mutation_p.H383D NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 514 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGTGGGGTATCATACCGTCTG 0.507000 35 595 0 0 0.002836 0 0 LURAP1L 286343 broad.mit.edu 37 9 12775741 12775741 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:12775741C>T ENST00000319264.3 + 1 722 c.27C>T c.(25-27)ctC>ctT p.L9L LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 9 TGCCAGACCTCAGAGACATCG 0.587000 12 25 0 0 0.001368 0 0 GCC2 9648 broad.mit.edu 37 2 109087004 109087004 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:109087004G>A ENST00000309863.6 + 6 1933 c.1219G>A c.(1219-1221)Gag>Aag p.E407K NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 407 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ATTAAAATCTGAGCTAGCAGG 0.313000 46 30 0 0 0.003610 0 0 OR5H14 403273 broad.mit.edu 37 3 97868604 97868604 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:97868604C>T ENST00000437310.1 + 1 435 c.375C>T c.(373-375)gcC>gcT p.A125A NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GCTATGTAGCCATATGCAAAC 0.403000 24 173 0 0 0.003330 0 0 PQLC3 130814 broad.mit.edu 37 2 11312124 11312124 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:11312124G>A ENST00000295083.3 + 5 603 c.428G>A c.(427-429)gGa>gAa p.G143E PQLC3_ENST00000441908.2_Missense_Mutation_p.G143E|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000402361.1_Intron NM_152391.3 NP_689604.1 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 143 integral to membrane kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) AGAGACTCAGGAACTGTGAGT 0.493000 19 60 0 0 0.007413 0 0 SPATC1 375686 broad.mit.edu 37 8 145095927 145095927 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr8:145095927G>A ENST00000377470.3 + 3 1327 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K SPATC1_ENST00000447830.2_Missense_Mutation_p.E409K NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 409 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGCACCACAGAACCGTCGAC 0.627000 29 28 0 0 0.006320 0 0 ABCC9 10060 broad.mit.edu 37 12 22069998 22069998 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:22069998G>C ENST00000261200.4 - 4 445 c.446C>G c.(445-447)aCa>aGa p.T149R ABCC9_ENST00000261201.4_Missense_Mutation_p.T149R|ABCC9_ENST00000345162.2_Missense_Mutation_p.T149R NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 149 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAATTTTATTGTTTTTGTAAT 0.383000 4 126 0 0 0.000602 0 0 DNAH3 55567 broad.mit.edu 37 16 21069457 21069457 + Missense_Mutation SNP T T C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:21069457T>C ENST00000261383.3 - 27 3873 c.3874A>G c.(3874-3876)Atc>Gtc p.I1292V DNAH3_ENST00000415178.1_Missense_Mutation_p.I1292V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1292 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTCCAAAAGATGGAGGAGACA 0.493000 19 33 0 0 0.006122 0 0 LINC00886 730091 broad.mit.edu 37 3 156527281 156527281 + RNA SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:156527281G>A ENST00000472943.1 - 0 148 NR_038387.1 CACAGAGTCCGGGGTGTGGTG 0.612000 6 29 0 0 0.001168 0 0 PSMC6 5706 broad.mit.edu 37 14 53177836 53177836 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:53177836G>A ENST00000445930.2 + 5 324 c.318G>A c.(316-318)ctG>ctA p.L106L PSMC6_ENST00000606149.1_Silent_p.L92L P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 92 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) AAAGTAAGCTGAAGCCAGGAA 0.333000 8 29 0 0 0.004482 0 0 RNF216 54476 broad.mit.edu 37 7 5781338 5781338 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:5781338C>G ENST00000389902.3 - 4 577 c.310G>C c.(310-312)Gaa>Caa p.E104Q RNF216_ENST00000425013.2_Intron Q9NWF9 RN216_HUMAN ring finger protein 216 65 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTATCTGATTCAAATGCTGCT 0.443000 42 135 0 0 0.003610 0 0 OR2A25 392138 broad.mit.edu 37 7 143771640 143771640 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:143771640G>C ENST00000408898.2 + 1 366 c.328G>C c.(328-330)Gaa>Caa p.E110Q NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGCACATACAGAATGTCTCCT 0.512000 9 68 0 0 0.006214 0 0 RIPK1 8737 broad.mit.edu 37 6 3105811 3105811 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:3105811G>A ENST00000259808.4 + 9 1400 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K RIPK1_ENST00000541791.1_Missense_Mutation_p.E322K|RIPK1_ENST00000380409.2_Missense_Mutation_p.E368K|RIPK1_ENST00000479389.1_3'UTR Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine kinase 1 368 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCACCCACAAGAAGAGAATGA 0.562000 31 155 0 0 0.009535 0 0 ZC3H4 23211 broad.mit.edu 37 19 47572422 47572422 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:47572422C>T ENST00000253048.5 - 14 2362 c.2325G>A c.(2323-2325)caG>caA p.Q775Q ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 775 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CCTGCTGCTTCTGCTGGATCC 0.692000 22 82 0 0 0.012319 0 0 COL6A1 1291 broad.mit.edu 37 21 47420265 47420265 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr21:47420265C>T ENST00000361866.3 + 28 1911 c.1797C>T c.(1795-1797)atC>atT p.I599I NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 599 C-terminal globular domain. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TTTTGGACATCATCATGAAAA 0.592000 7 49 0 0 0.004482 0 0 ATRX 546 broad.mit.edu 37 X 76778781 76778781 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:76778781C>G ENST00000373344.5 - 31 7012 c.6798G>C c.(6796-6798)ttG>ttC p.L2266F ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L2228F NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2266 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTTCTTCAGTCAACTCTTCTT 0.368000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 83 39 0 0 0.003610 0 0 CLK1 1195 broad.mit.edu 37 2 201722768 201722768 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:201722768C>G ENST00000434813.2 - 6 1053 c.719G>C c.(718-720)aGa>aCa p.R240T CLK1_ENST00000321356.4_Missense_Mutation_p.R198T|CLK1_ENST00000409769.2_Missense_Mutation_p.R21T NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 198 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TTCACAGTATCTATCCACATT 0.383000 22 77 0 0 0.012319 0 0 RAI14 26064 broad.mit.edu 37 5 34823814 34823814 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:34823814G>A ENST00000265109.3 + 15 2154 c.1867G>A c.(1867-1869)Gcc>Acc p.A623T RAI14_ENST00000506376.1_Missense_Mutation_p.A615T|RAI14_ENST00000428746.2_Missense_Mutation_p.A623T|RAI14_ENST00000512629.1_Missense_Mutation_p.A594T|RAI14_ENST00000503673.1_Missense_Mutation_p.A623T|RAI14_ENST00000397449.1_Missense_Mutation_p.A616T|RAI14_ENST00000515799.1_Missense_Mutation_p.A626T NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 623 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) GACACAGGAAGCCAGTGATGA 0.388000 12 160 0 0 0.001855 0 0 KRT8 3856 broad.mit.edu 37 12 53294949 53294949 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:53294949G>C ENST00000552551.1 - 4 1020 c.588C>G c.(586-588)atC>atG p.I196M KRT8_ENST00000552150.1_Missense_Mutation_p.I224M|KRT8_ENST00000546897.1_Missense_Mutation_p.I196M|KRT8_ENST00000293308.6_Missense_Mutation_p.I196M P05787 K2C8_HUMAN keratin 8 196 Coil 1B.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACCTTCTTGATGAGGACAA 0.468000 25 73 0 0 0.003954 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413151 105413151 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:105413151C>T ENST00000333244.5 - 7 8756 c.8637G>A c.(8635-8637)gtG>gtA p.V2879V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2879 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGGGAGTTTCACGTCCACCT 0.617000 12 239 0 0 0.010504 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540300 169540300 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:169540300G>A ENST00000340806.6 + 1 591 c.591G>A c.(589-591)gaG>gaA p.E197E NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 197 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 ACCTGGACGAGAACAAAATAG 0.512000 17 114 0 0 0.004990 0 0 RNF111 54778 broad.mit.edu 37 15 59368279 59368279 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:59368279C>T ENST00000348370.4 + 7 2246 c.1813C>T c.(1813-1815)Cag>Tag p.Q605* RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q605* NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 605 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q605*(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) CTTTGGCCATCAGGCCGCTGC 0.557000 23 70 0 0 0.002780 0 0 SRCAP 10847 broad.mit.edu 37 16 30748804 30748804 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:30748804C>G ENST00000262518.4 + 34 7828 c.7443C>G c.(7441-7443)atC>atG p.I2481M SRCAP_ENST00000395059.2_Missense_Mutation_p.I2419M|SRCAP_ENST00000344771.4_Missense_Mutation_p.I2323M NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2481 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity p.I2481I(1) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CTGTCCATATCTTGccttctc 0.562000 4 11 0 0 0.009096 0 0 DMD 1756 broad.mit.edu 37 X 32503183 32503183 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:32503183G>C ENST00000357033.4 - 21 2862 c.2656C>G c.(2656-2658)Caa>Gaa p.Q886E DMD_ENST00000378677.2_Missense_Mutation_p.Q882E NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 886 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CGTTCAATTTGAGGTTGAAGA 0.378000 12 45 0 0 0.002450 0 0 TOP3A 7156 broad.mit.edu 37 17 18181344 18181344 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:18181344G>A ENST00000321105.5 - 18 2686 c.2472C>T c.(2470-2472)gtC>gtT p.V824V TOP3A_ENST00000540524.1_Silent_p.V354V|TOP3A_ENST00000542570.1_Silent_p.V729V NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 824 2 X 27 AA approximate repeats. DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CCTCCTTACGGACAGTGAGCA 0.617000 11 61 0 0 0.010729 0 0 PPL 5493 broad.mit.edu 37 16 4934524 4934524 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:4934524C>G ENST00000345988.2 - 22 4221 c.4132G>C c.(4132-4134)Gag>Cag p.E1378Q PPL_ENST00000590782.2_Missense_Mutation_p.E1376Q NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1378 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGCCGCAGCTCCACATCGATG 0.687000 36 174 0 0 0.003755 0 0 FAT4 79633 broad.mit.edu 37 4 126242275 126242275 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:126242275G>T ENST00000394329.3 + 1 4722 c.4709G>T c.(4708-4710)gGg>gTg p.G1570V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1570 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATCATCAATGGGGACACAGAC 0.458000 71 44 3.56841e-20 5.46371e-20 0.003610 1 0 PDS5A 23244 broad.mit.edu 37 4 39851203 39851203 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:39851203C>G ENST00000303538.8 - 27 3695 c.3156G>C c.(3154-3156)aaG>aaC p.K1052N NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 1052 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TCTCTGCCATCTTCTTCATAA 0.383000 26 19 0 0 0.003330 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 5 351 0 0 0.000602 0 0 XPO6 23214 broad.mit.edu 37 16 28181134 28181134 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:28181134G>A ENST00000304658.5 - 5 1002 c.502C>T c.(502-504)Cgg>Tgg p.R168W XPO6_ENST00000565698.1_Missense_Mutation_p.R154W NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 168 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TCCTCCTTCCGAGCCACACTG 0.572000 16 61 0 0 0.004990 0 0 PTBP1 5725 broad.mit.edu 37 19 808706 808706 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:808706C>T ENST00000356948.6 + 13 1830 c.1407C>T c.(1405-1407)tcC>tcT p.S469S PTBP1_ENST00000350092.4_Silent_p.S109S|PTBP1_ENST00000394601.4_Silent_p.S462S|PTBP1_ENST00000349038.4_Silent_p.S443S NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 443 RRM 4. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCCGGGCTCCAAGAACTTCC 0.672000 12 13 0 0 0.002450 0 0 CUL9 23113 broad.mit.edu 37 6 43163948 43163948 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:43163948G>C ENST00000252050.4 + 10 2614 c.2530G>C c.(2530-2532)Gag>Cag p.E844Q CUL9_ENST00000354495.3_Missense_Mutation_p.E734Q|CUL9_ENST00000372647.2_Missense_Mutation_p.E844Q NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 844 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCCGGGCTCTGAGAGCCTGCT 0.547000 9 60 0 0 0.006214 0 0 SLC12A7 10723 broad.mit.edu 37 5 1063986 1063986 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:1063986G>C ENST00000264930.5 - 20 2755 c.2712C>G c.(2710-2712)atC>atG p.I904M NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 904 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCTCGGCGCTGATGCGCAAGT 0.652000 6 146 0 0 0.003080 0 0 MIR494 574452 broad.mit.edu 37 14 101495970 101495970 + RNA SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:101495970C>T ENST00000349529.2 + 0 0 NR_030174.1 TGCTAATCTTCGATACTCGAA 0.413000 8 32 0 0 0.006214 0 0 CD1D 912 broad.mit.edu 37 1 158151868 158151868 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:158151868G>A ENST00000368171.3 + 4 874 c.375G>A c.(373-375)ggG>ggA p.G125G NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 125 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGCACCCTGGGAACGCCTCAA 0.498000 19 268 0 0 0.006122 0 0 SYT2 127833 broad.mit.edu 37 1 202574758 202574758 + Missense_Mutation SNP T T C rs142067373 TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:202574758T>C ENST00000367267.1 - 2 335 c.143A>G c.(142-144)aAg>aGg p.K48R SYT2_ENST00000367268.4_Missense_Mutation_p.K48R NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 48 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) TAACTTCTCCTTCAGTTTGGC 0.562000 18 47 0 0 0.012319 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406653 38406653 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:38406653C>T ENST00000361085.5 + 7 919 c.574C>T c.(574-576)Cag>Tag p.Q192* ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.Q192* NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 CATCACTCATCAGCAAACACA 0.378000 18 67 0 0 0.007413 0 0 OLFML3 56944 broad.mit.edu 37 1 114524297 114524297 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:114524297G>A ENST00000369551.1 + 4 1355 c.1067G>A c.(1066-1068)cGc>cAc p.R356H OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Missense_Mutation_p.R376H|OLFML3_ENST00000393300.2_Missense_Mutation_p.R356H Q9NRN5 OLFL3_HUMAN olfactomedin-like 3 376 Olfactomedin-like. multicellular organismal development extracellular region p.R376H(1) breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1) 14 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCAGCCTCCGCTATAACCCC 0.572000 5 35 0 0 0.001984 0 0 DLD 1738 broad.mit.edu 37 7 107542259 107542259 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:107542259C>T ENST00000205402.5 + 3 476 c.195C>T c.(193-195)ttC>ttT p.F65F DLD_ENST00000437604.2_Silent_p.F65F|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Intron|DLD_ENST00000440410.1_Silent_p.F65F NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 65 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) AGTTAGGCTTCAAGGTAAGGT 0.343000 6 54 0 0 0.003080 0 0 CLK1 1195 broad.mit.edu 37 2 201722595 201722595 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:201722595C>G ENST00000434813.2 - 7 1138 c.804G>C c.(802-804)caG>caC p.Q268H CLK1_ENST00000321356.4_Missense_Mutation_p.Q226H|CLK1_ENST00000409769.2_Missense_Mutation_p.Q49H NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 226 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 ATTCCAACATCTGGACACAGC 0.353000 26 60 0 0 0.005443 0 0 PDXDC1 23042 broad.mit.edu 37 16 15129997 15129997 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:15129997C>T ENST00000396410.4 + 23 2329 c.2232C>T c.(2230-2232)ctC>ctT p.L744L PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000569715.1_Silent_p.L717L|PDXDC1_ENST00000447912.2_Silent_p.L653L|PDXDC1_ENST00000450288.2_Silent_p.L716L|PDXDC1_ENST00000563679.1_Silent_p.L762L|PDXDC1_ENST00000325823.7_Silent_p.L729L NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 744 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGATCACCCTCGAGGCCAGCA 0.597000 59 91 0 0 0.003610 0 0 NFXL1 152518 broad.mit.edu 37 4 47896226 47896226 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:47896226C>T ENST00000507489.1 - 11 1599 c.1423G>A c.(1423-1425)Gac>Aac p.D475N NFXL1_ENST00000381538.3_Missense_Mutation_p.D475N|NFXL1_ENST00000329043.3_Missense_Mutation_p.D475N NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 475 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TTCTGACAGTCACGCATCTTA 0.378000 7 32 0 0 0.003080 0 0 LILRA6 79168 broad.mit.edu 37 19 54744212 54744212 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:54744212G>A ENST00000419410.2 - 6 1197 c.1196C>T c.(1195-1197)tCa>tTa p.S399L LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.S399L|LILRA6_ENST00000245621.5_Missense_Mutation_p.S399L leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAGCTGTATGAGCCGTAGCA 0.592000 5 116 0 0 0.001168 0 0 LRRTM3 347731 broad.mit.edu 37 10 68688159 68688159 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:68688159G>A ENST00000361320.4 + 2 2063 c.1485G>A c.(1483-1485)ctG>ctA p.L495L CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 495 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AGATGCTGCTGAATGGGACGG 0.458000 21 39 0 0 0.012319 0 0 BIRC7 79444 broad.mit.edu 37 20 61870805 61870805 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:61870805G>A ENST00000217169.3 + 6 959 c.745G>A c.(745-747)Gag>Aag p.E249K BIRC7_ENST00000342412.6_Missense_Mutation_p.E231K|BIRC7_ENST00000395306.1_Missense_Mutation_p.E144K NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 249 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) GCTGCAGGAGGAGAGGACGTG 0.692000 25 45 0 0 0.003954 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473806 145473806 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:145473806C>G ENST00000323397.4 + 4 1771 c.478C>G c.(478-480)Ctc>Gtc p.L160V NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 160 endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCGGCAGTATCTCAATTCTCC 0.622000 11 94 0 0 0.001368 0 0 CSPP1 79848 broad.mit.edu 37 8 68044210 68044210 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr8:68044210G>C ENST00000262210.5 + 14 1738 c.1707G>C c.(1705-1707)ctG>ctC p.L569L CSPP1_ENST00000412460.1_Silent_p.L275L NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 604 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGAATGAACTGAAGATTACAA 0.333000 9 48 0 0 0.008291 0 0 ASIC2 40 broad.mit.edu 37 17 31618767 31618767 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:31618767C>G ENST00000225823.2 - 1 1239 c.367G>C c.(367-369)Gag>Cag p.E123Q ASIC2_ENST00000359872.6_Intron NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 79 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CGGCTCCACTCGCGGTGCACC 0.642000 12 17 0 0 0.002450 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 18 0 0 0.007291 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68255549 68255549 + Translation_Start_Site SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr8:68255549G>A ENST00000262215.3 - 0 363 NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCGGCGGCTCGTCCGACCCGC 0.612000 13 54 0 0 0.002450 0 0 FABP9 646480 broad.mit.edu 37 8 82371425 82371425 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr8:82371425G>A ENST00000379071.2 - 2 276 c.221C>T c.(220-222)aCt>aTt p.T74I RP11-157I4.4_ENST00000524085.2_RNA NM_001080526.1 NP_001073995.1 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 74 lipid binding|transporter activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Epithelial(68;0.186) GTCTGCTGTAGTTTCATCAAA 0.388000 16 102 0 0 0.004990 0 0 APOB 338 broad.mit.edu 37 2 21238118 21238118 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:21238118C>G ENST00000233242.1 - 23 3650 c.3523G>C c.(3523-3525)Gaa>Caa p.E1175Q NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1175 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATTCAAATTCAATCTTCTCT 0.398000 7 70 0 0 0.001984 0 0 EVC2 132884 broad.mit.edu 37 4 5690922 5690922 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:5690922G>C ENST00000310917.2 - 5 1159 c.428C>G c.(427-429)tCg>tGg p.S143W EVC2_ENST00000344938.1_Missense_Mutation_p.S223W|EVC2_ENST00000344408.5_Missense_Mutation_p.S223W NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 223 integral to membrane p.S223L(1) NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GAATCCTTCCGAGGTCCTGTT 0.488000 10 37 0 0 0.010729 0 0 B3GALT4 8705 broad.mit.edu 37 6 33246332 33246332 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:33246332G>A ENST00000451237.1 + 1 1416 c.1136G>A c.(1135-1137)tGa>tAa p.*379* NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 0 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.*379fs?(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CTTCAGAGCTGAGAGTGCCTG 0.612000 21 100 0 0 0.002780 0 0 MMP25 64386 broad.mit.edu 37 16 3100371 3100371 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:3100371C>T ENST00000336577.4 + 4 722 c.485C>T c.(484-486)tCc>tTc p.S162F MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 162 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 GAGGTGGATTCCCCCCAGGGC 0.647000 7 42 0 0 0.003080 0 0 PLXDC2 84898 broad.mit.edu 37 10 20290841 20290841 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:20290841C>A ENST00000377252.4 + 2 1091 c.250C>A c.(250-252)Caa>Aaa p.Q84K PLXDC2_ENST00000377242.3_Missense_Mutation_p.Q84K NM_001282736.1|NM_032812.7 NP_001269665.1|NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 AAGCGTCGGCCAAGACTCTCC 0.507000 14 16 1.3612e-06 1.97564e-06 0.003163 1 0 GPR141 353345 broad.mit.edu 37 7 37780414 37780414 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:37780414G>T ENST00000447769.1 + 4 708 c.419G>T c.(418-420)tGg>tTg p.W140L GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.W140L|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 140 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCTGGCATGTGGACGCTGGTG 0.468000 12 107 5.50884e-06 7.94032e-06 0.001368 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140794341 140794341 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:140794341G>A ENST00000398610.2 + 1 1599 c.1599G>A c.(1597-1599)caG>caA p.Q533Q PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 p.Q533H(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGCTACAGATGCAGGTGA 0.547000 73 145 0 0 0.003610 0 0 SF1 7536 broad.mit.edu 37 11 64537844 64537844 + Silent SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:64537844C>A ENST00000377390.3 - 4 610 c.273G>T c.(271-273)ggG>ggT p.G91G SF1_ENST00000377387.1_Silent_p.G216G|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000433274.2_Silent_p.G65G|SF1_ENST00000377394.3_Silent_p.G91G|SF1_ENST00000227503.9_Silent_p.G91G|SF1_ENST00000334944.5_Silent_p.G91G NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 91 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 TAAGCCGCTTCCCCTCGCTAT 0.537000 15 75 3.27435e-08 4.81929e-08 0.002450 1 0 APC2 10297 broad.mit.edu 37 19 1466155 1466155 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:1466155C>T ENST00000535453.1 + 14 4568 c.2855C>T c.(2854-2856)tCg>tTg p.S952L C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.S952L|APC2_ENST00000238483.4_Missense_Mutation_p.S678L O95996 APC2_HUMAN adenomatosis polyposis coli 2 952 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GCACTGGCTTCGCGCCGCGAG 0.731000 11 6 0 0 0.001368 0 0 KLHL9 55958 broad.mit.edu 37 9 21333031 21333031 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:21333031G>C ENST00000359039.4 - 1 2348 c.1828C>G c.(1828-1830)Ctt>Gtt p.L610V KLHL9_ENST00000537938.1_Missense_Mutation_p.L542V Q9P2J3 KLHL9_HUMAN kelch-like family member 9 610 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) GGTGCTGAAAGAGGTGATTCT 0.438000 10 38 0 0 0.001368 0 0 FGF12 2257 broad.mit.edu 37 3 191888340 191888340 + Missense_Mutation SNP A A C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:191888340A>C ENST00000445105.2 - 5 579 c.334T>G c.(334-336)Ttt>Gtt p.F112V FGF12_ENST00000450716.1_Missense_Mutation_p.F112V|FGF12_ENST00000454309.2_Missense_Mutation_p.F174V|FGF12_ENST00000264730.3_Missense_Mutation_p.F112V|FGF12_ENST00000430714.1_Missense_Mutation_p.F75V NM_004113.5 NP_004104.3 P61328 FGF12_HUMAN fibroblast growth factor 12 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) AGTCCCAGAAACCAAGCTCGG 0.408000 7 274 0 0 0.004482 0 0 DMXL1 1657 broad.mit.edu 37 5 118507480 118507480 + Nonsense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:118507480C>G ENST00000311085.8 + 25 6577 c.6497C>G c.(6496-6498)tCa>tGa p.S2166* DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S2166* NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2166 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AAGGAAACATCAGAACCACTA 0.378000 19 77 0 0 0.010504 0 0 GALE 2582 broad.mit.edu 37 1 24124220 24124220 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:24124220C>T ENST00000374497.3 - 6 584 c.493G>A c.(493-495)Gag>Aag p.E165K NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 165 E -> K (in EDG). galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) ATCATTTCCTCGATGAAGAAC 0.612000 9 34 0 0 0.008291 0 0 MAPK6 5597 broad.mit.edu 37 15 52356397 52356397 + Missense_Mutation SNP A A G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:52356397A>G ENST00000261845.5 + 6 2173 c.1366A>G c.(1366-1368)Aac>Gac p.N456D CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 456 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) ATATTTAGATAACTTAGTTTG 0.338000 5 14 0 0 0.000602 0 0 FMN2 56776 broad.mit.edu 37 1 240374455 240374455 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:240374455G>C ENST00000319653.9 + 6 4215 c.3985G>C c.(3985-3987)Gag>Cag p.E1329Q NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1329 FH2. 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) TCATGAATTTGAGGAATTATT 0.328000 17 115 0 0 0.004007 0 0 TRBV7-3 28595 broad.mit.edu 37 7 142247226 142247226 + RNA SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:142247226G>C ENST00000390361.3 - 0 279 GGGCAGCCCTGAGTCATCTGC 0.562000 4 86 0 0 0.009096 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532448 84532448 + RNA SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:84532448G>A ENST00000527857.1 + 0 2470 NR_026851.1 AAACTCATATGATGCATCTGT 0.448000 6 38 0 0 0.006214 0 0 NDST1 3340 broad.mit.edu 37 5 149915293 149915293 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:149915293C>T ENST00000261797.6 + 6 1785 c.1283C>T c.(1282-1284)gCa>gTa p.A428V NDST1_ENST00000523767.1_Missense_Mutation_p.A428V NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 428 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGGGGTATGCAGTGGCGCCC 0.627000 10 42 0 0 0.001368 0 0 TCHH 7062 broad.mit.edu 37 1 152081456 152081456 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:152081456C>T ENST00000368804.1 - 2 4236 c.4237G>A c.(4237-4239)Gac>Aac p.D1413N NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1413 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AATTTTCTGTCGCGGTCCTGA 0.607000 23 154 0 0 0.003330 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39381968 39381968 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:39381968C>G ENST00000402182.3 + 3 381 c.326C>G c.(325-327)tCt>tGt p.S109C APOBEC3B_ENST00000407298.3_Missense_Mutation_p.S109C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.S109C Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 109 S -> A (in dbSNP:rs17000697). negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) GAATTCCTGTCTGAGCACCCC 0.582000 18 112 0 0 0.008871 0 0 SLC2A6 11182 broad.mit.edu 37 9 136337290 136337290 + Silent SNP G G A rs116420154 by1000genomes TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:136337290G>A ENST00000371899.4 - 10 1454 c.1377C>T c.(1375-1377)ttC>ttT p.F459F SLC2A6_ENST00000371897.4_Silent_p.F397F|SLC2A6_ENST00000485978.1_5'UTR NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 459 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) CCTGGAGGCCGAAGGTGCTCT 0.657000 8 42 0 0 0.003080 0 0 TMC4 147798 broad.mit.edu 37 19 54676798 54676798 + Silent SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:54676798C>G ENST00000376591.4 - 1 146 c.15G>C c.(13-15)ccG>ccC p.P5P TMC4_ENST00000301187.4_Silent_p.P5P NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 5 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ATTCCAAGGTCGGGTTTTCTT 0.647000 23 113 0 0 0.003330 0 0 CUL7 9820 broad.mit.edu 37 6 43014801 43014801 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:43014801C>T ENST00000535468.1 - 10 2552 c.2466G>A c.(2464-2466)gtG>gtA p.V822V CUL7_ENST00000265348.3_Silent_p.V738V|CUL7_ENST00000478630.1_5'UTR NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 738 DOC. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGTCCCTGCTCACTGAGGTCA 0.587000 59 88 0 0 0.003610 0 0 ADRM1 11047 broad.mit.edu 37 20 60881753 60881753 + Silent SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:60881753C>A ENST00000253003.2 + 5 550 c.504C>A c.(502-504)ctC>ctA p.L168L ADRM1_ENST00000462554.1_3'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 168 Gly-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) ACAGCCAGCTCATGCAGCTCA 0.657000 4 12 0.00024832 0.000351857 0.009096 1 0 ATP10B 23120 broad.mit.edu 37 5 160033891 160033891 + Missense_Mutation SNP T T A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:160033891T>A ENST00000327245.5 - 19 3887 c.3041A>T c.(3040-3042)aAg>aTg p.K1014M NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1014 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) TTCCAGAAACTTCTTCTCTAG 0.512000 13 75 0 0 0.001368 0 0 RBM5 10181 broad.mit.edu 37 3 50131152 50131152 + Splice_Site SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:50131152G>A ENST00000347869.3 + 4 358 c.e4-1 RBM5_ENST00000469838.1_Splice_Site NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTGTAACTCAGAGAGAGCGTG 0.433000 39 62 0 0 0.004878 0 0 CNTRL 11064 broad.mit.edu 37 9 123907177 123907177 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:123907177C>T ENST00000373855.1 + 21 3368 c.3108C>T c.(3106-3108)ctC>ctT p.L1036L CNTRL_ENST00000373850.1_Silent_p.L484L|CNTRL_ENST00000373847.1_Silent_p.L484L|CNTRL_ENST00000238341.5_Silent_p.L1036L Q7Z7A1 CNTRL_HUMAN centriolin 1036 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 CCAGAGATCTCACCCGAGCAG 0.537000 20 99 0 0 0.007413 0 0 NDST1 3340 broad.mit.edu 37 5 149918799 149918799 + Silent SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:149918799C>A ENST00000261797.6 + 7 1949 c.1447C>A c.(1447-1449)Cgg>Agg p.R483R NDST1_ENST00000523767.1_Silent_p.R483R NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 483 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTTCTCCCACGGCAGACCTG 0.607000 19 90 1.56452e-12 2.38676e-12 0.007413 1 0 TEAD1 7003 broad.mit.edu 37 11 12951826 12951826 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:12951826G>C ENST00000361905.4 + 12 1740 c.1075G>C c.(1075-1077)Gag>Cag p.E359Q TEAD1_ENST00000361985.2_Missense_Mutation_p.E374Q|TEAD1_ENST00000526600.1_Missense_Mutation_p.E278Q|TEAD1_ENST00000334310.6_Missense_Mutation_p.E305Q|TEAD1_ENST00000527575.1_Missense_Mutation_p.E316Q|TEAD1_ENST00000527636.1_Missense_Mutation_p.E374Q NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 374 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) ACACTTACCAGAGAAATATAT 0.398000 15 78 0 0 0.002450 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135767973 135767973 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:135767973G>C ENST00000250617.6 - 12 2460 c.1255C>G c.(1255-1257)Caa>Gaa p.Q419E ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q265E|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q292E|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q265E NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 419 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) CTCAGATCTTGACATTGCCCC 0.378000 16 43 0 0 0.004007 0 0 OSBPL3 26031 broad.mit.edu 37 7 24882005 24882005 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:24882005G>C ENST00000313367.2 - 13 1745 c.1294C>G c.(1294-1296)Cta>Gta p.L432V OSBPL3_ENST00000396431.1_Missense_Mutation_p.L401V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L396V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L396V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.L365V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L401V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L365V NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 432 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TGATGAACTAGAGCTCGGTTT 0.343000 4 191 0 0 0.009096 0 0 PIBF1 10464 broad.mit.edu 37 13 73539441 73539441 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:73539441G>C ENST00000326291.6 + 15 2201 c.1863G>C c.(1861-1863)caG>caC p.Q621H NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 621 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) TATTAAACCAGACTCAACAGC 0.358000 4 48 0 0 0.000602 0 0 TRDN 10345 broad.mit.edu 37 6 123892118 123892118 + Nonsense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:123892118G>C ENST00000334268.4 - 2 499 c.182C>G c.(181-183)tCa>tGa p.S61* TRDN_ENST00000546248.1_Nonsense_Mutation_p.S61*|TRDN_ENST00000542443.1_Nonsense_Mutation_p.S61*|TRDN_ENST00000398178.3_Nonsense_Mutation_p.S61* Q13061 TRDN_HUMAN triadin 61 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GGCAACAGCTGACCACGTGAT 0.408000 21 52 0 0 0.012319 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776406 77776406 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr8:77776406C>T ENST00000521891.2 + 11 10904 c.10456C>T c.(10456-10458)Cat>Tat p.H3486Y ZFHX4_ENST00000050961.6_Missense_Mutation_p.H3437Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H3441Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H3460Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3437 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCCAAAGAGCATGTTAGATT 0.433000 HNSCC(33;0.089) 7 38 0 0 0.001984 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100007089 100007089 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:100007089G>A ENST00000398027.2 - 9 1077 c.830C>T c.(829-831)tCa>tTa p.S277L ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S157L|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S157L|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S278L NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 277 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGGGAGAACTGAGGGGTCAAT 0.448000 22 27 0 0 0.003954 0 0 PELI2 57161 broad.mit.edu 37 14 56763420 56763420 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:56763420C>G ENST00000267460.4 + 6 1085 c.799C>G c.(799-801)Cag>Gag p.Q267E NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 267 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 TACTCCAACTCAGAAGCACAT 0.577000 6 37 0 0 0.001168 0 0 KCNA10 3744 broad.mit.edu 37 1 111061107 111061107 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:111061107G>C ENST00000369771.2 - 1 690 c.303C>G c.(301-303)ctC>ctG p.L101L NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 101 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TAAGGGTTCTGAGCTGGGTCT 0.507000 18 51 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13786347 13786347 + Missense_Mutation SNP T T A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:13786347T>A ENST00000265104.4 - 52 8865 c.8761A>T c.(8761-8763)Atc>Ttc p.I2921F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2921 AAA 4 (By similarity). 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) GCGCCACGGATGCTCTCATTA 0.463000 Kartagener syndrome 4 133 0 0 0.009096 0 0 COPB2 9276 broad.mit.edu 37 3 139077643 139077643 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:139077643C>G ENST00000333188.5 - 20 2677 c.2496G>C c.(2494-2496)gaG>gaC p.E832D COPB2_ENST00000507777.1_Missense_Mutation_p.E803D NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 832 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TGACATTTCTCTCTTCATTTG 0.383000 6 58 0 0 0.001168 0 0 MCCC1 56922 broad.mit.edu 37 3 182788831 182788831 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:182788831G>A ENST00000492597.1 - 6 1092 c.390C>T c.(388-390)ttC>ttT p.F130F MCCC1_ENST00000265594.4_Silent_p.F239F|MCCC1_ENST00000539926.1_Silent_p.F104F Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 239 Biotin carboxylation. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CATCATCATTGAAAGACTTCT 0.353000 12 53 0 0 0.002450 0 0 ZNF70 7621 broad.mit.edu 37 22 24087015 24087015 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:24087015G>C ENST00000341976.3 - 2 773 c.313C>G c.(313-315)Cag>Gag p.Q105E NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 105 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TGGATTATCTGACACATGCTG 0.532000 53 95 0 0 0.003610 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144916618 144916618 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:144916618G>A ENST00000529945.1 - 9 2665 c.2226C>T c.(2224-2226)atC>atT p.I742I PDE4DIP_ENST00000313431.9_Silent_p.I742I|PDE4DIP_ENST00000530740.1_Silent_p.I716I|PDE4DIP_ENST00000369351.3_Silent_p.I579I|PDE4DIP_ENST00000369354.3_Silent_p.I579I|PDE4DIP_ENST00000369359.4_Silent_p.I716I|PDE4DIP_ENST00000313382.9_Silent_p.I645I|PDE4DIP_ENST00000369356.4_Silent_p.I579I|PDE4DIP_ENST00000369349.3_Silent_p.I579I|PDE4DIP_ENST00000479408.2_Silent_p.I366I Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 579 Breakpoint for insertion to form PDE4DIP- PDGFRB fusion protein. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ACTGCTGAATGATACTCTCTT 0.408000 T PDGFRB MPD 10 1081 0 0 0.006214 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1798271 1798271 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:1798271G>A ENST00000250894.4 + 7 1175 c.1018G>A c.(1018-1020)Gat>Aat p.D340N MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D340N NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 340 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CGAGTGGTCTGATGTTCAAGA 0.637000 13 46 0 0 0.004007 0 0 ATP11C 286410 broad.mit.edu 37 X 138864738 138864738 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:138864738C>T ENST00000370557.1 - 18 2947 c.1920G>A c.(1918-1920)atG>atA p.M640I ATP11C_ENST00000370543.1_Missense_Mutation_p.M643I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.M643I|ATP11C_ENST00000359686.2_Missense_Mutation_p.M643I|ATP11C_ENST00000361648.2_Missense_Mutation_p.M643I Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 643 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) CAATTAAATTCATGTTTGTCT 0.343000 29 17 0 0 0.006320 0 0 USP29 57663 broad.mit.edu 37 19 57642258 57642258 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:57642258G>C ENST00000254181.4 + 4 2669 c.2215G>C c.(2215-2217)Gag>Cag p.E739Q USP29_ENST00000598197.1_Missense_Mutation_p.E739Q NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 739 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCAGTGTATTGAGGAGAGCAT 0.468000 20 42 0 0 0.008871 0 0 DDX4 54514 broad.mit.edu 37 5 55075822 55075822 + Nonsense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:55075822C>G ENST00000505374.1 + 8 517 c.425C>G c.(424-426)tCa>tGa p.S142* DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S122*|DDX4_ENST00000511853.1_Intron NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 142 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) TCAGAAGCTTCAGGGCCATAC 0.413000 7 14 0 0 0.006214 0 0 MUC16 94025 broad.mit.edu 37 19 9067696 9067696 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:9067696C>G ENST00000397910.4 - 3 19953 c.19750G>C c.(19750-19752)Gag>Cag p.E6584Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6586 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TACATTTTCTCTGTATCTTTA 0.453000 19 60 0 0 0.008871 0 0 BTN3A3 10384 broad.mit.edu 37 6 26448522 26448522 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:26448522G>C ENST00000244519.2 + 6 1005 c.762G>C c.(760-762)ggG>ggC p.G254G BTN3A3_ENST00000339789.4_Silent_p.G212G|BTN3A3_ENST00000361232.3_Silent_p.G212G NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 254 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 CCCTGGCAGGGACCCTGCCTA 0.592000 11 89 0 0 0.010729 0 0 CUBN 8029 broad.mit.edu 37 10 17147549 17147549 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:17147549G>C ENST00000377833.4 - 11 1202 c.1137C>G c.(1135-1137)ctC>ctG p.L379L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 379 EGF-like 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TATAACCCGGGAGACACGTGC 0.443000 30 49 0 0 0.007291 0 0 SRSF2 6427 broad.mit.edu 37 17 74732291 74732291 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:74732291C>T ENST00000392485.2 - 2 790 c.618G>A c.(616-618)tcG>tcA p.S206S RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Silent_p.S194S|SRSF2_ENST00000359995.5_Silent_p.S206S|MFSD11_ENST00000586622.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 206 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity p.S186S(1)|p.S206S(1) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GGGGACTCTTCGATCGCGACC 0.547000 Mis """MDS, CLL""" 10 102 0 0 0.006214 0 0 RGPD3 653489 broad.mit.edu 37 2 107029618 107029618 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:107029618C>G ENST00000409886.3 - 22 5275 c.5188G>C c.(5188-5190)Gag>Cag p.E1730Q RGPD3_ENST00000304514.7_Missense_Mutation_p.E1730Q NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1730 GRIP. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AGAAGTCTCTCTCTTTCACTA 0.448000 23 119 0 0 0.005443 0 0 CSTF1 1477 broad.mit.edu 37 20 54974087 54974087 + Missense_Mutation SNP A A T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:54974087A>T ENST00000217109.4 + 5 1062 c.710A>T c.(709-711)cAg>cTg p.Q237L CSTF1_ENST00000493039.1_3'UTR NM_001033521.1|NM_001324.2 NP_001028693.1|NP_001315.1 Q05048 CSTF1_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa 237 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 15 Colorectal(105;0.202) GTCGGAACTCAGCATCCTACT 0.398000 51 108 0 0 0.003610 0 0 KIF5C 3800 broad.mit.edu 37 2 149803434 149803434 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:149803434G>A ENST00000435030.1 + 8 979 c.611G>A c.(610-612)aGa>aAa p.R204K KIF5C_ENST00000414838.2_Missense_Mutation_p.R109K O60282 KIF5C_HUMAN kinesin family member 5C 204 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.R204I(1)|p.R107I(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CACAGCTCTAGAAGTCACAGT 0.348000 15 12 0 0 0.003163 0 0 KCNH5 27133 broad.mit.edu 37 14 63447854 63447854 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:63447854G>C ENST00000322893.7 - 6 946 c.678C>G c.(676-678)ttC>ttG p.F226L KCNH5_ENST00000420622.2_Missense_Mutation_p.F226L|KCNH5_ENST00000394964.2_Missense_Mutation_p.F168L|KCNH5_ENST00000394968.1_Missense_Mutation_p.F168L NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 226 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) TGGCGGTGTAGAAGGTAAGAA 0.388000 7 42 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179588222 179588222 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:179588222G>A ENST00000589042.1 - 74 21829 c.21605C>T c.(21604-21606)tCt>tTt p.S7202F TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5958F|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6885F|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6885 Ig-like 54. 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) CCCACTCTGAGATATGTCAAT 0.438000 4 23 0 0 0.000602 0 0 MRPL38 64978 broad.mit.edu 37 17 73897805 73897805 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:73897805C>T ENST00000309352.3 - 4 1116 c.579G>A c.(577-579)gtG>gtA p.V193V MRPL38_ENST00000409963.3_Silent_p.V9V|MRPL38_ENST00000585475.1_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 193 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGTTGGAGTCACCTCATTGC 0.582000 7 31 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179639084 179639084 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:179639084C>A ENST00000589042.1 - 30 7131 c.6907G>T c.(6907-6909)Gat>Tat p.D2303Y TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2303Y|TTN_ENST00000359218.5_Missense_Mutation_p.D2257Y|TTN_ENST00000460472.2_Missense_Mutation_p.D2257Y|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D2303Y|TTN_ENST00000591111.1_Missense_Mutation_p.D2303Y|TTN_ENST00000342175.6_Missense_Mutation_p.D2257Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2015 Ig-like 12. 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) AGCTCCACATCATTATGATAC 0.398000 20 78 4.35082e-09 6.44908e-09 0.010504 1 0 SKIL 6498 broad.mit.edu 37 3 170078952 170078952 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:170078952C>A ENST00000458537.3 + 1 1542 c.833C>A c.(832-834)cCc>cAc p.P278H SKIL_ENST00000413427.2_Missense_Mutation_p.P278H|SKIL_ENST00000426052.2_Missense_Mutation_p.P258H|SKIL_ENST00000259119.4_Missense_Mutation_p.P278H NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 278 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTATTTGCACCCCAGTTTTAT 0.463000 16 58 6.31663e-08 9.26439e-08 0.003163 1 0 RGL4 266747 broad.mit.edu 37 22 24038808 24038808 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:24038808G>A ENST00000290691.5 + 7 2264 c.1094G>A c.(1093-1095)aGc>aAc p.S365N RGL4_ENST00000401461.1_Missense_Mutation_p.S229N|KB-1572G7.2_ENST00000421064.1_RNA NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 365 Ras-GEF. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CAGGCGGGGAGCTTTAAGGTG 0.657000 8 29 0 0 0.003080 0 0 FNTB 2342 broad.mit.edu 37 14 65528024 65528024 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:65528024C>T ENST00000246166.2 + 12 1542 c.1308C>T c.(1306-1308)acC>acT p.T436T FNTB_ENST00000447296.2_Silent_p.T470T|FNTB_ENST00000542227.1_Silent_p.T390T|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.T471T NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGCCTGCAACCGACTAGAGGA 0.507000 8 32 0 0 0.003080 0 0 CEP85 64793 broad.mit.edu 37 1 26595074 26595074 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:26595074G>A ENST00000252992.4 + 8 1573 c.1442G>A c.(1441-1443)cGc>cAc p.R481H CEP85_ENST00000451429.2_Missense_Mutation_p.R430H NM_001281517.1|NM_022778.2 NP_001268446.1|NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 481 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 ACCTTGGAGCGCTACCTGGCT 0.517000 13 44 0 0 0.001855 0 0 NRCAM 4897 broad.mit.edu 37 7 107880462 107880462 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:107880462C>G ENST00000379028.3 - 4 517 c.47G>C c.(46-48)aGa>aCa p.R16T NRCAM_ENST00000351718.4_Missense_Mutation_p.R16T|NRCAM_ENST00000413765.2_Missense_Mutation_p.R16T|NRCAM_ENST00000425651.2_Missense_Mutation_p.R16T|NRCAM_ENST00000379024.4_Missense_Mutation_p.R16T|NRCAM_ENST00000379022.4_Missense_Mutation_p.R16T Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 16 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding p.R16K(2) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CAGGGGCACTCTGCCCGCAGA 0.433000 12 63 0 0 0.001855 0 0 HERC5 51191 broad.mit.edu 37 4 89415392 89415392 + Missense_Mutation SNP A A G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:89415392A>G ENST00000264350.3 + 18 2507 c.2354A>G c.(2353-2355)aAc>aGc p.N785S HERC5_ENST00000508159.1_Missense_Mutation_p.N423S NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 785 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AATGTTGCCAACCTTCCTTTC 0.373000 5 50 0 0 0.000602 0 0 NPY2R 4887 broad.mit.edu 37 4 156136118 156136118 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:156136118G>C ENST00000329476.3 + 2 1516 c.1027G>C c.(1027-1029)Gag>Cag p.E343Q NPY2R_ENST00000506608.1_Missense_Mutation_p.E343Q NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 343 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CTTCCGCTGTGAGCAGCGGTT 0.512000 54 38 0 0 0.003610 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185269663 185269663 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:185269663C>T ENST00000367498.3 - 11 1770 c.1148G>A c.(1147-1149)cGa>cAa p.R383Q IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R165Q NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 383 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex p.R383Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 TTCGACTGTTCGAAGACATTC 0.398000 16 92 0 0 0.006122 0 0 TMEM62 80021 broad.mit.edu 37 15 43441253 43441253 + Missense_Mutation SNP A A G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:43441253A>G ENST00000260403.2 + 7 1049 c.770A>G c.(769-771)cAt>cGt p.H257R NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 257 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TTGTGTGGACATCTCCATACA 0.413000 27 75 0 0 0.006320 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504349 151504349 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:151504349G>C ENST00000317605.4 + 1 1273 c.168G>C c.(166-168)ttG>ttC p.L56F LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 56 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) TCAGCTCCTTGAGCGAGATCG 0.582000 12 24 0 0 0.010729 0 0 KLHL5 51088 broad.mit.edu 37 4 39083642 39083642 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:39083642C>T ENST00000261425.3 + 5 915 c.763C>T c.(763-765)Cag>Tag p.Q255* KLHL5_ENST00000261426.5_Nonsense_Mutation_p.Q240*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.Q301*|KLHL5_ENST00000504108.1_Nonsense_Mutation_p.Q301*|KLHL5_ENST00000508137.2_Nonsense_Mutation_p.Q114*|KLHL5_ENST00000359687.2_Nonsense_Mutation_p.Q301* NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 301 BTB. cytoplasm|cytoskeleton actin binding p.Q301*(1) endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TTGCCTTCTTCAGCTTTCACA 0.383000 13 67 0 0 0.001855 0 0 SBNO1 55206 broad.mit.edu 37 12 123800103 123800103 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:123800103C>G ENST00000420886.2 - 21 3039 c.3040G>C c.(3040-3042)Gag>Cag p.E1014Q SBNO1_ENST00000267176.4_Missense_Mutation_p.E1013Q|SBNO1_ENST00000602398.1_Missense_Mutation_p.E1014Q|SBNO1_ENST00000602750.1_Missense_Mutation_p.E1013Q NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1014 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ACCAAACTCTCAAGTCTTTTA 0.373000 11 65 0 0 0.008291 0 0 CCDC17 149483 broad.mit.edu 37 1 46086493 46086493 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:46086493C>G ENST00000421127.2 - 12 1728 c.1585G>C c.(1585-1587)Gag>Cag p.E529Q CCDC17_ENST00000343901.2_Missense_Mutation_p.E506Q|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Missense_Mutation_p.E538Q NM_001114938.2|NM_001190182.1 NP_001108410.2|NP_001177111.1 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 538 kidney(1)|large_intestine(1)|lung(1)|ovary(2) 5 Acute lymphoblastic leukemia(166;0.155) AGAAAGAGCTCAGCCTGACCT 0.532000 4 12 0 0 0.009096 0 0 AKAP13 11214 broad.mit.edu 37 15 86228025 86228025 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:86228025C>T ENST00000394518.2 + 16 5305 c.5210C>T c.(5209-5211)tCt>tTt p.S1737F AKAP13_ENST00000361243.2_Missense_Mutation_p.S1741F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1737 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAGAAAGATTCTGAATGGAAG 0.363000 13 68 0 0 0.001368 0 0 ATP1B4 23439 broad.mit.edu 37 X 119509292 119509292 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:119509292G>T ENST00000218008.3 + 5 685 c.628G>T c.(628-630)Gat>Tat p.D210Y ATP1B4_ENST00000539306.1_Missense_Mutation_p.D167Y|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D206Y NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 210 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 CTTCATCCAAGATGGCAATGA 0.463000 6 82 5.9392e-07 8.65012e-07 0.001168 1 0 SP100 6672 broad.mit.edu 37 2 231380326 231380326 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:231380326G>A ENST00000264052.5 + 25 2966 c.2611G>A c.(2611-2613)Gag>Aag p.E871K SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 871 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) tgaacaagaggaggaaaatga 0.358000 4 13 0 0 0.009096 0 0 P2RX2 22953 broad.mit.edu 37 12 133196313 133196313 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:133196313C>T ENST00000389110.3 + 3 395 c.358C>T c.(358-360)Cag>Tag p.Q120* P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.Q120*|P2RX2_ENST00000348800.5_Nonsense_Mutation_p.Q120*|P2RX2_ENST00000351222.4_Intron NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 120 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) CACCCACTCCCAGACCCAGGG 0.731000 9 25 0 0 0.006214 0 0 OR12D3 81797 broad.mit.edu 37 6 29342313 29342313 + Missense_Mutation SNP T T C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:29342313T>C ENST00000396806.3 - 1 755 c.752A>G c.(751-753)tAt>tGt p.Y251C OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 CACAGGTCCATAGAAAAGACA 0.478000 10 39 0 0 0.006214 0 0 VPRBP 9730 broad.mit.edu 37 3 51440609 51440609 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:51440609G>A ENST00000335891.5 - 16 3095 c.3086C>T c.(3085-3087)gCa>gTa p.A1029V Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1478 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CTCCTCATCTGCATCAGAGTC 0.542000 7 39 0 0 0.004482 0 0 TRIM39-RPP21 202658 broad.mit.edu 37 6 30314549 30314549 + Missense_Mutation SNP G G A rs149764842 TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:30314549G>A ENST00000513556.1 + 10 1210 c.1210G>A c.(1210-1212)Gag>Aag p.E404K RPP21_ENST00000436442.2_Silent_p.*145*|RPP21_ENST00000428040.2_Missense_Mutation_p.E166K|RPP21_ENST00000433076.2_Missense_Mutation_p.E151K|RPP21_ENST00000442966.2_Missense_Mutation_p.E143K NM_001199119.1 NP_001186048.1 A6ZJ12 A6ZJ12_HUMAN 404 intracellular zinc ion binding CCGCCTTCCTGAGGAGAAAAT 0.428000 24 121 0 0 0.002780 0 0 NALCN 259232 broad.mit.edu 37 13 101735522 101735522 + Missense_Mutation SNP T T A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:101735522T>A ENST00000251127.6 - 32 3692 c.3611A>T c.(3610-3612)tAt>tTt p.Y1204F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1204 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGTTATGTCATACATTTTAGC 0.398000 9 60 0 0 0.004482 0 0 PTN 5764 broad.mit.edu 37 7 136936138 136936138 + Splice_Site SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:136936138G>T ENST00000348225.2 - 4 717 c.290C>A c.(289-291)gCg>gAg p.A97E PTN_ENST00000393083.2_Splice_Site_p.A97E NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin 97 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity p.A97V(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 TTTGCACTCCGCTAAAGGCAG 0.448000 12 108 4.36969e-10 6.5467e-10 0.001855 1 0 PFDN2 5202 broad.mit.edu 37 1 161070565 161070565 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:161070565G>A ENST00000368010.3 - 4 457 c.373C>T c.(373-375)Cgt>Tgt p.R125C PFDN2_ENST00000468311.1_5'UTR NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 125 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCCATGAGACGAATGTTGTGC 0.498000 8 149 0 0 0.004482 0 0 DTL 51514 broad.mit.edu 37 1 212245552 212245552 + Nonsense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:212245552G>A ENST00000366991.4 + 11 1346 c.1032G>A c.(1030-1032)tgG>tgA p.W344* DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Nonsense_Mutation_p.W302* NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 344 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) CCTACATATGGAAGGTAAGTT 0.388000 20 62 0 0 0.008871 0 0 ATP7A 538 broad.mit.edu 37 X 77254178 77254178 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:77254178G>A ENST00000341514.6 + 5 1695 c.1540G>A c.(1540-1542)Gaa>Aaa p.E514K ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E514K NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 514 HMA 5. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 AAGGCGGGAAGAAGGTGAGAC 0.398000 4 69 0 0 0.009096 0 0 TUBB6 84617 broad.mit.edu 37 18 12325866 12325866 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr18:12325866G>A ENST00000317702.5 + 4 1312 c.1078G>A c.(1078-1080)Ggc>Agc p.G360S TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 360 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CCCGCCCCGCGGCCTGAAGAT 0.607000 41 237 0 0 0.005524 0 0 DEAF1 10522 broad.mit.edu 37 11 674639 674639 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:674639G>A ENST00000382409.3 - 10 1884 c.1400C>T c.(1399-1401)gCg>gTg p.A467V RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.A378V NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 467 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CAGCTGCTGCGCTGTGTTGAG 0.592000 16 80 0 0 0.004990 0 0 CATSPERD 257062 broad.mit.edu 37 19 5763290 5763290 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:5763290G>A ENST00000381624.3 + 16 1553 c.1492G>A c.(1492-1494)Gat>Aat p.D498N CATSPERD_ENST00000381614.2_Missense_Mutation_p.D156N|CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 498 integral to membrane TTCATGTGTGGATATCAAGCC 0.438000 9 45 0 0 0.006214 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138196164 138196164 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:138196164G>A ENST00000237289.4 + 3 544 c.478G>A c.(478-480)Gat>Aat p.D160N NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 160 OTU.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GCTTTGCTATGATACTCGGGT 0.498000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 18 67 0 0 0.006122 0 0 SLC25A30 253512 broad.mit.edu 37 13 45983092 45983092 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:45983092C>T ENST00000539591.1 - 2 192 c.29G>A c.(28-30)aGa>aAa p.R10K Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 61 mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) CCCTTCTTCTCTGCCTATCCT 0.453000 15 72 0 0 0.004007 0 0 TMEM97 27346 broad.mit.edu 37 17 26653744 26653744 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:26653744C>T ENST00000226230.6 + 3 601 c.456C>T c.(454-456)ctC>ctT p.L152L TMEM97_ENST00000336687.6_Silent_p.L45L|TMEM97_ENST00000583381.1_Silent_p.L45L NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 152 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CCTACTTACTCATCCCATTCA 0.423000 14 31 0 0 0.002450 0 0 GTF2H3 2967 broad.mit.edu 37 12 124123888 124123888 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:124123888C>T ENST00000543341.2 + 2 122 c.91C>T c.(91-93)Cag>Tag p.Q31* GTF2H3_ENST00000228955.7_Intron NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 31 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) AAAGGAATCTCAGGTAAGACT 0.323000 Nucleotide excision repair (NER) 4 11 0 0 0.009096 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261824 21261824 + Nonsense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:21261824G>T ENST00000311620.5 + 2 1010 c.937G>T c.(937-939)Gag>Tag p.E313* NM_145865.2 NP_665872.2 Q8N8V4 ANS4B_HUMAN ankyrin repeat and sterile alpha motif domain containing 4B 313 NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2) 20 GBM - Glioblastoma multiforme(48;0.0565) AGAGGCTGATGAGGGTGCAGC 0.498000 4 26 1.024e-07 1.49662e-07 0.000602 1 0 AGL 178 broad.mit.edu 37 1 100340960 100340960 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:100340960G>A ENST00000294724.4 + 10 1710 c.1232G>A c.(1231-1233)gGc>gAc p.G411D AGL_ENST00000370165.3_Missense_Mutation_p.G411D|AGL_ENST00000370163.3_Missense_Mutation_p.G411D|AGL_ENST00000370161.2_Missense_Mutation_p.G395D|AGL_ENST00000361915.3_Missense_Mutation_p.G411D|AGL_ENST00000361522.4_Missense_Mutation_p.G394D|AGL_ENST00000361302.3_Missense_Mutation_p.G395D|AGL_ENST00000477753.1_3'UTR NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 411 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CGACTGGCTGGCCATGGTCCA 0.353000 4 42 0 0 0.000602 0 0 DDX41 51428 broad.mit.edu 37 5 176942243 176942243 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:176942243C>T ENST00000507955.1 - 7 1111 c.588G>A c.(586-588)ctG>ctA p.L196L DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 196 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) CTTTCTTCTTCAGGCCTCTCA 0.532000 6 87 0 0 0.003080 0 0 PIAS3 10401 broad.mit.edu 37 1 145580263 145580263 + Nonsense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:145580263C>T ENST00000393045.2 + 6 835 c.745C>T c.(745-747)Cga>Tga p.R249* PIAS3_ENST00000369299.3_Nonsense_Mutation_p.R240*|PIAS3_ENST00000369298.1_Nonsense_Mutation_p.R214* NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 249 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACCCCTGGCTCGACTCTCAGC 0.582000 73 136 0 0 0.003610 0 0 GJB4 127534 broad.mit.edu 37 1 35227215 35227215 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:35227215G>C ENST00000339480.1 + 2 730 c.360G>C c.(358-360)ctG>ctC p.L120L RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 120 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ACGACAACCTGAGCAAGAAGC 0.612000 19 38 0 0 0.008871 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103052607 103052607 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:103052607C>T ENST00000375735.2 + 40 6613 c.6469C>T c.(6469-6471)Cta>Tta p.L2157L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2157L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2157 AAA 2 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACAATGGGTTCTAAAGCAGGT 0.318000 3 11 0 0 0.004672 0 0 EIF4E2 9470 broad.mit.edu 37 2 233421129 233421129 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:233421129G>A ENST00000409514.1 + 2 66 c.24G>A c.(22-24)ttG>ttA p.L8L EIF4E2_ENST00000409322.1_Silent_p.L8L|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000258416.3_Silent_p.L8L|EIF4E2_ENST00000409167.3_Silent_p.L8L|EIF4E2_ENST00000409394.1_Silent_p.L8L|EIF4E2_ENST00000409098.1_Silent_p.L8L|EIF4E2_ENST00000409495.1_Silent_p.L8L NM_001282958.1 NP_001269887.1 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 8 MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871). regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CATTCAGTTTGAAAGATGATG 0.413000 4 10 0 0 0.009096 0 0 MYH3 4621 broad.mit.edu 37 17 10535959 10535959 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:10535959G>A ENST00000583535.1 - 34 4877 c.4790C>T c.(4789-4791)aCc>aTc p.T1597I MYH3_ENST00000226209.7_Missense_Mutation_p.T1597I NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1597 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GCTCTGCATGGTTTCCACTGT 0.507000 170 128 0 0 0.003610 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822517 43822517 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:43822517C>G ENST00000389420.3 - 25 3574 c.3575G>C c.(3574-3576)tGt>tCt p.C1192S ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C310S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1192S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1192 TSP type-1 7. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAAGTGGGCACAATATGATTC 0.448000 13 13 0 0 0.001368 0 0 PROKR2 128674 broad.mit.edu 37 20 5294562 5294562 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:5294562C>T ENST00000546004.1 - 2 700 c.454G>A c.(454-456)Gac>Aac p.D152N PROKR2_ENST00000217270.3_Missense_Mutation_p.D152N Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 152 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CCTCACCTGTCAATGGCAATG 0.592000 HNSCC(71;0.22) 9 19 0 0 0.004482 0 0 ENTPD2 954 broad.mit.edu 37 9 139945802 139945802 + Nonsense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:139945802G>T ENST00000355097.2 - 4 454 c.407C>A c.(406-408)tCg>tAg p.S136* ENTPD2_ENST00000312665.5_Nonsense_Mutation_p.S136* NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 136 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CACACTGGTCGAGGCCTCTGG 0.612000 21 38 1.96292e-10 2.95144e-10 0.010504 1 0 MMP25 64386 broad.mit.edu 37 16 3100093 3100093 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:3100093C>T ENST00000336577.4 + 3 553 c.316C>T c.(316-318)Cgc>Tgc p.R106C MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 106 Poly-Arg. inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CAGGCGGCGTCGCCGGTACGC 0.701000 26 119 0 0 0.004656 0 0 IRX2 153572 broad.mit.edu 37 5 2749162 2749162 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:2749162G>A ENST00000382611.6 - 3 908 c.660C>T c.(658-660)atC>atT p.I220I IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.I220I NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 220 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CGTGCAGGCTGATCCCTGTGG 0.736000 9 48 0 0 0.004482 0 0 CDH6 1004 broad.mit.edu 37 5 31317488 31317488 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:31317488C>G ENST00000265071.2 + 10 1784 c.1519C>G c.(1519-1521)Cag>Gag p.Q507E CDH6_ENST00000514738.1_Missense_Mutation_p.Q452E NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 507 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.Q507E(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTAGTTGATTCAGACCCTGCA 0.383000 7 176 0 0 0.006214 0 0 GPATCH8 23131 broad.mit.edu 37 17 42478101 42478101 + Silent SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:42478101C>A ENST00000434000.1 - 9 1392 c.1110G>T c.(1108-1110)gcG>gcT p.A370A GPATCH8_ENST00000591680.1_Silent_p.A448A Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 448 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GGCTTGCTGCCGCCTTGATGC 0.502000 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 191 3.59834e-05 5.116e-05 0.001168 1 0 RASGRP3 25780 broad.mit.edu 37 2 33745693 33745693 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:33745693G>A ENST00000403687.3 + 6 1050 c.310G>A c.(310-312)Gaa>Aaa p.E104K RASGRP3_ENST00000402538.3_Missense_Mutation_p.E104K|RASGRP3_ENST00000407811.1_Missense_Mutation_p.E104K NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 104 N-terminal Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) GGAATTTCGGGAAGTAGCTAG 0.428000 31 143 0 0 0.008361 0 0 OR6B1 135946 broad.mit.edu 37 7 143701739 143701739 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:143701739C>G ENST00000408922.2 + 1 718 c.650C>G c.(649-651)tCc>tGc p.S217C NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) ACTGTCCTGTCCTACGGATGC 0.463000 32 108 0 0 0.012213 0 0 FREM2 341640 broad.mit.edu 37 13 39451377 39451377 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:39451377G>A ENST00000280481.7 + 21 8884 c.8668G>A c.(8668-8670)Gaa>Aaa p.E2890K NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2890 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) TGCTTTTGCAGAAGGTATCAC 0.423000 48 253 0 0 0.003610 0 0 ASNSD1 54529 broad.mit.edu 37 2 190531514 190531514 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:190531514C>T ENST00000260952.4 + 4 1069 c.656C>T c.(655-657)tCa>tTa p.S219L ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 219 asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) AGTCAAATTTCAGCAGACTTA 0.348000 9 57 0 0 0.004482 0 0 TRIM41 90933 broad.mit.edu 37 5 180661766 180661766 + Silent SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:180661766C>G ENST00000315073.5 + 6 2594 c.1884C>G c.(1882-1884)ctC>ctG p.L628L TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 628 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCATCAAGCTCTGCCCTTGAT 0.622000 9 129 0 0 0.004482 0 0 TRIP6 7205 broad.mit.edu 37 7 100469339 100469339 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:100469339C>A ENST00000200457.4 + 7 1534 c.1174C>A c.(1174-1176)Cac>Aac p.H392N NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 392 LIM zinc-binding 2. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) TGAGGACTTTCACAGGTCAGG 0.577000 9 36 1.12685e-05 1.61864e-05 0.004482 1 0 KIRREL3 84623 broad.mit.edu 37 11 126333074 126333074 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:126333074C>T ENST00000525144.2 - 6 969 c.720G>A c.(718-720)acG>acA p.T240T KIRREL3_ENST00000525704.2_Silent_p.T240T|KIRREL3_ENST00000529097.2_Silent_p.T240T NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 240 Ig-like C2-type 2. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TGGTGACCGACGTCTCCTTTC 0.617000 6 23 0 0 0.001984 0 0 ZNF564 163050 broad.mit.edu 37 19 12638575 12638575 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:12638575G>A ENST00000339282.7 - 4 543 c.347C>T c.(346-348)tCa>tTa p.S116L CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 ACTAAGGGATGAATGATGCAT 0.393000 15 68 0 0 0.003163 0 0 UFL1 23376 broad.mit.edu 37 6 96973212 96973212 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:96973212G>T ENST00000369278.4 + 4 358 c.292G>T c.(292-294)Ggt>Tgt p.G98C NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 98 Required for E3 UFM1-protein ligase activity. negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity AAATAGAATTGGTGACATTAT 0.274000 4 120 3.59834e-05 5.116e-05 0.001168 1 0 DENND4B 9909 broad.mit.edu 37 1 153902856 153902856 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:153902856C>T ENST00000361217.4 - 28 4826 c.4408G>A c.(4408-4410)Gag>Aag p.E1470K NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1470 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCCTCAGCTCCTCCTTGCCC 0.542000 17 69 0 0 0.004990 0 0 AGTR1 185 broad.mit.edu 37 3 148459512 148459512 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:148459512G>A ENST00000542281.1 + 4 1136 c.690G>A c.(688-690)aaG>aaA p.K230K AGTR1_ENST00000404754.2_Silent_p.K230K|AGTR1_ENST00000475347.1_Silent_p.K230K|AGTR1_ENST00000474935.1_Silent_p.K230K|AGTR1_ENST00000497524.1_Silent_p.K230K|AGTR1_ENST00000349243.3_Silent_p.K230K|AGTR1_ENST00000418473.2_Silent_p.K230K|AGTR1_ENST00000461609.1_Silent_p.K230K|AGTR1_ENST00000402260.1_Silent_p.K230K NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 230 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AAATTCAGAAGAACAAACCAA 0.328000 8 55 0 0 0.004482 0 0 GRM8 2918 broad.mit.edu 37 7 126746602 126746602 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:126746602C>T ENST00000339582.2 - 3 1483 c.675G>A c.(673-675)ggG>ggA p.G225G GRM8_ENST00000405249.1_Silent_p.G225G|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.G225G|GRM8_ENST00000358373.3_Silent_p.G225G O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 225 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACCATAGTTCCCCTCAGAAG 0.502000 HNSCC(24;0.065) 8 37 0 0 0.004482 0 0 SEMA6C 10500 broad.mit.edu 37 1 151109452 151109452 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:151109452G>A ENST00000341697.3 - 11 2546 c.855C>T c.(853-855)ctC>ctT p.L285L Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 285 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CAGAGCAGTTGAGCCGAAGCT 0.572000 34 231 0 0 0.012213 0 0 DRD2 1813 broad.mit.edu 37 11 113283435 113283435 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:113283435C>T ENST00000362072.3 - 7 1325 c.981G>A c.(979-981)aaG>aaA p.K327K DRD2_ENST00000542968.1_Silent_p.K327K|DRD2_ENST00000538967.1_Silent_p.K329K|DRD2_ENST00000355319.2_Silent_p.K329K|DRD2_ENST00000544518.1_Silent_p.K326K|DRD2_ENST00000346454.3_Silent_p.K298K NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 327 Interaction with PPP1R9B (By similarity). K -> E (in dbSNP:rs71653614). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.K327N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CATGCCCATTCTTCTCTGGTT 0.597000 9 50 0 0 0.004482 0 0 PTEN 5728 broad.mit.edu 37 10 89692851 89692851 + Missense_Mutation SNP T T C rs121909230 TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:89692851T>C ENST00000371953.3 + 5 1692 c.335T>C c.(334-336)cTa>cCa p.L112P NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 112 Phosphatase tensin-type. L -> P (in CD and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4).|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L112P(2)|p.Y27fs*1(2)|p.L112Q(1)|p.L112R(1)|p.F56fs*2(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GACCAATGGCTAAGTGAAGAT 0.388000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 55 37 0 0 0.003610 0 0 MYH7B 57644 broad.mit.edu 37 20 33587435 33587435 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:33587435G>A ENST00000262873.7 + 35 4820 c.4728G>A c.(4726-4728)gaG>gaA p.E1576E NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1534 membrane|myosin filament actin binding|ATP binding|motor activity 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) AGGAACTGGAGAAAACCAAGA 0.612000 4 21 0 0 0.009096 0 0 COL4A1 1282 broad.mit.edu 37 13 110817268 110817268 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:110817268G>C ENST00000375820.4 - 46 4212 c.4091C>G c.(4090-4092)cCt>cGt p.P1364R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1364 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGGCCCTCAGGACCAGGGAG 0.637000 10 5 0 0 0.006214 0 0 ATP5C1 509 broad.mit.edu 37 10 7841097 7841097 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:7841097C>T ENST00000356708.7 + 4 447 c.368C>T c.(367-369)gCa>gTa p.A123V ATP5C1_ENST00000335698.4_Missense_Mutation_p.A123V|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.A76V NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 123 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.L121_E127>Q(1) breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 ACACTAACAGCAGCTGGGAAA 0.368000 14 101 0 0 0.003163 0 0 CDC25B 994 broad.mit.edu 37 20 3781979 3781979 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:3781979G>C ENST00000245960.5 + 8 1481 c.784G>C c.(784-786)Gag>Cag p.E262Q CDC25B_ENST00000439880.2_Missense_Mutation_p.E248Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.E198Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.E198Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.E221Q|CDC25B_ENST00000467519.1_3'UTR NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 262 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 GACCCCTGCAGAGGGGGATAC 0.552000 25 176 0 0 0.006320 0 0 FBLN7 129804 broad.mit.edu 37 2 112942910 112942910 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:112942910C>T ENST00000331203.2 + 7 1212 c.941C>T c.(940-942)tCt>tTt p.S314F FBLN7_ENST00000409450.3_Missense_Mutation_p.S268F|FBLN7_ENST00000409903.1_Missense_Mutation_p.S314F|FBLN7_ENST00000409667.3_Missense_Mutation_p.S180F NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 314 EGF-like 3; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GTGAAGACGTCTCCATTGTGA 0.592000 20 27 0 0 0.010504 0 0 BOC 91653 broad.mit.edu 37 3 112992091 112992091 + Silent SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:112992091C>G ENST00000495514.1 + 8 1841 c.1137C>G c.(1135-1137)ctC>ctG p.L379L BOC_ENST00000355385.3_Silent_p.L379L|BOC_ENST00000273395.4_Silent_p.L379L Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 379 Ig-like C2-type 4. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) TGCGCGTGCTCAGCATGGGGC 0.687000 5 20 0 0 0.000602 0 0 COPB2 9276 broad.mit.edu 37 3 139077618 139077618 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:139077618C>G ENST00000333188.5 - 20 2702 c.2521G>C c.(2521-2523)Gac>Cac p.D841H COPB2_ENST00000507777.1_Missense_Mutation_p.D812H NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 841 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 GGCTGAAAGTCTTTTCCCTCT 0.353000 5 66 0 0 0.001168 0 0 AANAT 15 broad.mit.edu 37 17 74465350 74465350 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:74465350G>A ENST00000250615.3 + 6 1401 c.394G>A c.(394-396)Gag>Aag p.E132K AANAT_ENST00000392492.3_Missense_Mutation_p.E87K NM_001166579.1 NP_001160051.1 Q16613 SNAT_HUMAN aralkylamine N-acetyltransferase 87 Acetyl-CoA binding (By similarity).|N-acetyltransferase. circadian rhythm|melatonin biosynthetic process cytosol aralkylamine N-acetyltransferase activity lung(1) 1 CTGGTTCGAGGAGGGCTGCCT 0.627000 42 127 0 0 0.006999 0 0 RGS6 9628 broad.mit.edu 37 14 73002911 73002911 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:73002911G>A ENST00000553530.1 + 16 1503 c.1296G>A c.(1294-1296)ctG>ctA p.L432L RGS6_ENST00000343854.6_Silent_p.L395L|RGS6_ENST00000556437.1_Silent_p.L432L|RGS6_ENST00000434263.2_Silent_p.L363L|RGS6_ENST00000406236.4_Silent_p.L432L|RGS6_ENST00000355512.6_Silent_p.L432L|RGS6_ENST00000554782.1_Silent_p.L293L|RGS6_ENST00000555571.1_Silent_p.L432L|RGS6_ENST00000553525.1_Silent_p.L432L|RGS6_ENST00000404301.2_Silent_p.L432L|RGS6_ENST00000402788.2_Silent_p.L432L|RGS6_ENST00000407322.4_Silent_p.L432L NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 432 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TCTACAAGCTGATGAAGAGTG 0.488000 56 65 0 0 0.003610 0 0 CDC25B 994 broad.mit.edu 37 20 3782967 3782967 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:3782967G>C ENST00000245960.5 + 11 1835 c.1138G>C c.(1138-1140)Gag>Cag p.E380Q CDC25B_ENST00000439880.2_Missense_Mutation_p.E366Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.E316Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.E289Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.E339Q|CDC25B_ENST00000467519.1_3'UTR NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 380 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 GTGTCACGATGAGATCGAGAA 0.582000 7 41 0 0 0.003080 0 0 LTB4R 1241 broad.mit.edu 37 14 24785316 24785316 + Silent SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:24785316C>G ENST00000396789.4 + 2 2184 c.459C>G c.(457-459)ctC>ctG p.L153L LTB4R_ENST00000396782.2_Silent_p.L153L|LTB4R_ENST00000345363.3_Silent_p.L153L NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 153 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CACCCGTCCTCGCGTACCGCA 0.637000 22 58 0 0 0.002299 0 0 FRMPD1 22844 broad.mit.edu 37 9 37737217 37737217 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:37737217C>T ENST00000539465.1 + 14 2119 c.1526C>T c.(1525-1527)gCg>gTg p.A509V FRMPD1_ENST00000541302.1_Missense_Mutation_p.A378V|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A331V|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A509V|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 509 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AAACAACAAGCGCACCGGGTA 0.532000 19 21 0 0 0.012319 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499002 31499002 + Silent SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:31499002C>G ENST00000330498.3 + 7 826 c.807C>G c.(805-807)ccC>ccG p.P269P AC026471.6_ENST00000565137.1_RNA NM_003041.3 NP_003032.1 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 2 269 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TCCGGCACCCCGTGACCGGGG 0.667000 6 44 0 0 0.001984 0 0 CRISP3 10321 broad.mit.edu 37 6 49701492 49701492 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:49701492C>A ENST00000433368.2 - 5 485 c.416G>T c.(415-417)tGg>tTg p.W139L CRISP3_ENST00000371159.4_Missense_Mutation_p.W147L|CRISP3_ENST00000423399.2_Missense_Mutation_p.W26L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W129L|CRISP3_ENST00000393666.1_Missense_Mutation_p.W116L NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 116 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTCATCAAACCAGCTTTGGAT 0.433000 18 52 1.02788e-11 1.55672e-11 0.004990 1 0 TLR9 54106 broad.mit.edu 37 3 52257699 52257699 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:52257699G>A ENST00000494383.1 - 5 1092 c.1093C>T c.(1093-1095)Cac>Tac p.H365Y TLR9_ENST00000597542.1_Silent_p.L235L|TLR9_ENST00000360658.2_Silent_p.L211L Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GCACCACAGTGAGGTTGTTGT 0.602000 16 22 0 0 0.006122 0 0 RFC4 5984 broad.mit.edu 37 3 186507803 186507803 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:186507803G>A ENST00000392481.2 - 11 1328 c.1047C>T c.(1045-1047)atC>atT p.I349I RFC4_ENST00000296273.2_Silent_p.I349I|RFC4_ENST00000433496.1_Silent_p.I322I NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 349 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CACAAAGGCTGATGAGTTGCA 0.358000 5 33 0 0 0.001984 0 0 C1orf43 25912 broad.mit.edu 37 1 154187045 154187045 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:154187045C>G ENST00000368521.5 - 3 372 c.174G>C c.(172-174)ttG>ttC p.L58F C1orf43_ENST00000368519.1_Missense_Mutation_p.L58F|C1orf43_ENST00000350592.3_Missense_Mutation_p.L24F|C1orf43_ENST00000368516.1_Missense_Mutation_p.L24F|C1orf43_ENST00000368518.1_Missense_Mutation_p.L58F|C1orf43_ENST00000362076.4_Missense_Mutation_p.L24F NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 58 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TCTCCTCTTTCAAGTCCTGTT 0.413000 4 104 0 0 0.009096 0 0 RPTOR 57521 broad.mit.edu 37 17 78796025 78796025 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:78796025G>T ENST00000306801.3 + 8 1277 c.915G>T c.(913-915)agG>agT p.R305S RPTOR_ENST00000570891.1_Missense_Mutation_p.R305S|RPTOR_ENST00000537330.1_Missense_Mutation_p.R120S|RPTOR_ENST00000544334.2_Missense_Mutation_p.R305S|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 305 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 TGAACGACAGGAGGACGCCCC 0.602000 25 380 2.21704e-12 3.36989e-12 0.002780 1 0 PAX3 5077 broad.mit.edu 37 2 223085999 223085999 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:223085999C>T ENST00000350526.4 - 6 1036 c.900G>A c.(898-900)ccG>ccA p.P300P PAX3_ENST00000409551.3_Silent_p.P299P|PAX3_ENST00000392069.2_Silent_p.P300P|PAX3_ENST00000336840.6_Silent_p.P300P|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Silent_p.P300P|PAX3_ENST00000344493.4_Silent_p.P300P NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 300 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGCAAGGTCGGCATGGCAG 0.542000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 5 255 0 0 0.001168 0 0 MAGI1 9223 broad.mit.edu 37 3 65344796 65344796 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:65344796C>G ENST00000330909.8 - 24 3749 c.3750G>C c.(3748-3750)atG>atC p.M1250I MAGI1_ENST00000402939.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1251 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTTCATTTCTCATACATGCAG 0.463000 26 139 0 0 0.004656 0 0 SALL2 6297 broad.mit.edu 37 14 22005046 22005046 + Nonsense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr14:22005046G>A ENST00000327430.3 - 1 304 c.10C>T c.(10-12)Cga>Tga p.R4* SALL2_ENST00000317492.5_Nonsense_Mutation_p.R4* NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 4 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CGCTGCTTTCGCCGAGACATT 0.632000 14 27 0 0 0.004007 0 0 DCAF8 50717 broad.mit.edu 37 1 160209537 160209537 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:160209537G>A ENST00000368073.3 - 4 1107 c.673C>T c.(673-675)Cgg>Tgg p.R225W DCAF8_ENST00000326837.2_Missense_Mutation_p.R225W|DCAF8_ENST00000608310.1_Missense_Mutation_p.R379W|DCAF8_ENST00000610139.1_Missense_Mutation_p.R225W|DCAF8_ENST00000368074.1_Missense_Mutation_p.R225W|DCAF8_ENST00000475733.1_Missense_Mutation_p.R225W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R379W Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 225 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 ACTGGCTGCCGCCGTACCCAA 0.537000 5 178 0 0 0.000602 0 0 LRIG1 26018 broad.mit.edu 37 3 66436578 66436578 + Missense_Mutation SNP T T A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:66436578T>A ENST00000383703.3 - 14 2291 c.1688A>T c.(1687-1689)aAt>aTt p.N563I LRIG1_ENST00000273261.3_Missense_Mutation_p.N539I|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 539 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CATGTCTGCATTGGTCAGGAC 0.567000 76 95 0 0 0.003610 0 0 NDNF 79625 broad.mit.edu 37 4 121957890 121957890 + Missense_Mutation SNP T T G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:121957890T>G ENST00000379692.4 - 4 1762 c.1236A>C c.(1234-1236)aaA>aaC p.K412N NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 412 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TAGCTTTAGGTTTTCCTCTAA 0.423000 4 120 0 0 0.009096 0 0 ELN 2006 broad.mit.edu 37 7 73480280 73480280 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:73480280C>T ENST00000252034.7 + 31 2438 c.2039C>T c.(2038-2040)gCt>gTt p.A680V ELN_ENST00000320492.7_Missense_Mutation_p.A599V|ELN_ENST00000414324.1_Missense_Mutation_p.A656V|ELN_ENST00000458204.1_Missense_Mutation_p.A670V|ELN_ENST00000357036.5_Intron|ELN_ENST00000358929.4_Missense_Mutation_p.A748V|ELN_ENST00000380584.4_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000380562.4_Missense_Mutation_p.A686V|ELN_ENST00000429192.1_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.A661V|ELN_ENST00000380575.4_Intron|ELN_ENST00000320399.6_Missense_Mutation_p.A713V|ELN_ENST00000380553.4_Intron NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 742 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TCAGGTGCTGCTGGCCTTGGA 0.607000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 26 34 0 0 0.004656 0 0 KCNQ5 56479 broad.mit.edu 37 6 73905045 73905045 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:73905045C>T ENST00000342056.2 + 15 3162 c.2764C>T c.(2764-2766)Cta>Tta p.L922L KCNQ5_ENST00000414165.2_Silent_p.L793L|KCNQ5_ENST00000403813.2_Silent_p.L894L|KCNQ5_ENST00000370398.1_Silent_p.L903L|KCNQ5_ENST00000355194.4_Silent_p.L903L|KCNQ5_ENST00000402622.2_Silent_p.L913L|KCNQ5_ENST00000355635.3_Silent_p.L904L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 903 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ATCAGACTCTCTAAGGACTGG 0.488000 30 42 0 0 0.009535 0 0 PDCD4 27250 broad.mit.edu 37 10 112653936 112653936 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:112653936C>A ENST00000393104.2 + 10 1405 c.1045C>A c.(1045-1047)Cac>Aac p.H349N PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.H360N NM_145341.3 NP_663314.1 Q53EL6 PDCD4_HUMAN programmed cell death 4 (neoplastic transformation inhibitor) 360 MI 2. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 13 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) ACCTCATTTTCACCATGAGCT 0.328000 11 59 2.80697e-09 4.1755e-09 0.010729 1 0 CD109 135228 broad.mit.edu 37 6 74466381 74466381 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:74466381C>G ENST00000437994.2 + 6 1080 c.649C>G c.(649-651)Caa>Gaa p.Q217E CD109_ENST00000422508.2_Missense_Mutation_p.Q140E|CD109_ENST00000287097.5_Missense_Mutation_p.Q217E NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 217 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.Q217E(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GACATACTATCAATCATTTCA 0.313000 15 66 0 0 0.004007 0 0 CAMTA1 23261 broad.mit.edu 37 1 7826553 7826553 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:7826553G>A ENST00000439411.2 + 22 4951 c.4951G>A c.(4951-4953)Gac>Aac p.D1651N CAMTA1_ENST00000303635.7_3'UTR|CAMTA1_ENST00000476864.1_Missense_Mutation_p.D229N Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGAACTTGAAGACATACAGCA 0.398000 T WWTR1 epitheliod hemangioendothelioma 8 39 0 0 0.006214 0 0 DCTN1 1639 broad.mit.edu 37 2 74595869 74595869 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:74595869G>A ENST00000361874.3 - 16 2157 c.1840C>T c.(1840-1842)Cgt>Tgt p.R614C DCTN1_ENST00000409240.1_Missense_Mutation_p.R577C|DCTN1_ENST00000394003.3_Missense_Mutation_p.R607C|DCTN1_ENST00000409438.1_Missense_Mutation_p.R480C|DCTN1_ENST00000407639.2_Missense_Mutation_p.R480C|DCTN1_ENST00000409868.1_Missense_Mutation_p.R597C|DCTN1_ENST00000409567.3_Missense_Mutation_p.R594C NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 614 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CAAATGAGACGAGGCATGAGC 0.512000 10 52 0 0 0.008291 0 0 VPS13D 55187 broad.mit.edu 37 1 12381879 12381879 + Missense_Mutation SNP G G T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:12381879G>T ENST00000358136.3 + 33 7692 c.7562G>T c.(7561-7563)cGa>cTa p.R2521L VPS13D_ENST00000356315.4_Missense_Mutation_p.R2521L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2521 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTTTCATGCCGACTAGGGAAT 0.408000 26 47 2.48779e-11 3.75415e-11 0.005443 1 0 GPANK1 7918 broad.mit.edu 37 6 31630141 31630141 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:31630141G>A ENST00000375906.1 - 4 1657 c.973C>T c.(973-975)Cgg>Tgg p.R325W GPANK1_ENST00000375893.2_Missense_Mutation_p.R325W|GPANK1_ENST00000375896.4_Missense_Mutation_p.R325W|GPANK1_ENST00000375900.4_Missense_Mutation_p.R325W|GPANK1_ENST00000375895.2_Missense_Mutation_p.R325W NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 325 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 GTGGCCACCCGAGGGGGTCTC 0.597000 11 72 0 0 0.010729 0 0 ARVCF 421 broad.mit.edu 37 22 19966493 19966493 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:19966493C>T ENST00000263207.3 - 7 1798 c.1507G>A c.(1507-1509)Gag>Aag p.E503K ARVCF_ENST00000344269.3_Missense_Mutation_p.E440K|ARVCF_ENST00000406522.1_Missense_Mutation_p.E440K|ARVCF_ENST00000401994.1_Missense_Mutation_p.E440K|ARVCF_ENST00000406259.1_Missense_Mutation_p.E503K NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 503 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TCGTTGGGCTCACGCTCCCAT 0.597000 11 29 0 0 0.001855 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242217 5242217 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:5242217C>T ENST00000274181.7 + 17 2713 c.2575C>T c.(2575-2577)Cgc>Tgc p.R859C NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 859 Spacer. R -> L (in dbSNP:rs16875122). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R859C(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CTCCATGCCTCGCTTGGGGAC 0.552000 13 192 0 0 0.002450 0 0 FRG1B 284802 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 6 136 0 0 0.004482 0 0 RAD54L 8438 broad.mit.edu 37 1 46739349 46739349 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:46739349G>A ENST00000371975.4 + 14 2214 c.1540G>A c.(1540-1542)Gac>Aac p.D514N RAD54L_ENST00000442598.1_Missense_Mutation_p.D514N NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 514 Helicase C-terminal. meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CCGTAGCAGTGACAAAGTAGT 0.537000 Direct reversal of damage;Homologous recombination 12 19 0 0 0.001368 0 0 PPM1E 22843 broad.mit.edu 37 17 57057840 57057840 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:57057840C>T ENST00000308249.2 + 7 1845 c.1716C>T c.(1714-1716)ctC>ctT p.L572L NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 581 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ACCTAGATCTCACACAAATAG 0.468000 13 64 0 0 0.001368 0 0 DOPEY1 23033 broad.mit.edu 37 6 83855310 83855310 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:83855310G>A ENST00000349129.2 + 25 5869 c.5609G>A c.(5608-5610)aGa>aAa p.R1870K DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1861K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1851K|DOPEY1_ENST00000484282.1_3'UTR NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1870 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGTGTCATGAGAGCAGAAACT 0.378000 11 13 0 0 0.008291 0 0 SUPT6H 6830 broad.mit.edu 37 17 27002171 27002171 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:27002171G>C ENST00000314616.6 + 5 812 c.529G>C c.(529-531)Gag>Cag p.E177Q SUPT6H_ENST00000347486.4_Missense_Mutation_p.E177Q NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 177 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AGAAGATGATGAGGAGTCAGG 0.527000 11 73 0 0 0.010729 0 0 SLC13A3 64849 broad.mit.edu 37 20 45221095 45221095 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr20:45221095G>A ENST00000279027.4 - 6 886 c.868C>T c.(868-870)Ctg>Ttg p.L290L SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Silent_p.L243L|SLC13A3_ENST00000290317.5_Silent_p.L243L|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000472148.1_Silent_p.L243L|SLC13A3_ENST00000396360.1_Silent_p.L243L NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 290 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CCTGCCAACAGGAACAACAGC 0.517000 4 55 0 0 0.009096 0 0 ABCC12 94160 broad.mit.edu 37 16 48162640 48162640 + Silent SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:48162640G>C ENST00000311303.3 - 9 1590 c.1245C>G c.(1243-1245)ctC>ctG p.L415L ABCC12_ENST00000416054.1_Silent_p.L415L|ABCC12_ENST00000448542.1_Silent_p.L415L NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 415 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TTTTATCTATGAGAATTTTCT 0.398000 37 48 0 0 0.009718 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173916487 173916487 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:173916487C>G ENST00000264111.6 + 31 3212 c.3025C>G c.(3025-3027)Cga>Gga p.R1009G RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R857G|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R1010G|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R839G|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R866G|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R857G|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R942G|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R790G Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 1010 Ras-GEF. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) AGAGCCTCGTCGACCATAGAC 0.403000 9 64 0 0 0.004482 0 0 STAG3 10734 broad.mit.edu 37 7 99798560 99798560 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:99798560C>T ENST00000426455.1 + 19 2436 c.2029C>T c.(2029-2031)Cgc>Tgc p.R677C STAG3_ENST00000317296.5_Missense_Mutation_p.R677C|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R619C NM_001282716.1 NP_001269645.1 Q9UJ98 STAG3_HUMAN stromal antigen 3 677 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCTGACTGACCGCTTCCAGCA 0.592000 3 33 0 0 0.004672 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179555610 179555610 + Splice_Site SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:179555610C>T ENST00000393371.2 - 4 735 c.439G>A c.(439-441)Gca>Aca p.A147T RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000361132.4_Splice_Site_p.A147T|RASGEF1C_ENST00000519883.1_5'UTR Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 147 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCGGTATGCCTGGTGGGTG 0.597000 3 21 0 0 0.004672 0 0 TSPAN3 10099 broad.mit.edu 37 15 77348409 77348409 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:77348409G>A ENST00000267970.4 - 2 525 c.252C>T c.(250-252)gcC>gcT p.A84A TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000346495.2_Silent_p.A84A|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000424443.3_Intron|TSPAN3_ENST00000558745.1_5'UTR NM_001168412.1|NM_005724.5|NM_198902.2 NP_001161884.1|NP_005715.1|NP_944492.1 O60637 TSN3_HUMAN tetraspanin 3 84 integral to membrane kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) ATCTTACCGTGGCAAGTCCAC 0.468000 27 53 0 0 0.008361 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178521 140178521 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr3:140178521C>G ENST00000458420.3 + 7 1322 c.1132C>G c.(1132-1134)Cag>Gag p.Q378E RP11-68L1.2_ENST00000503357.1_RNA NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 378 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTGACCGATCAGTTCACCAT 0.552000 HNSCC(16;0.037) 8 64 0 0 0.003080 0 0 SLTM 79811 broad.mit.edu 37 15 59191728 59191728 + Missense_Mutation SNP T T C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:59191728T>C ENST00000380516.2 - 7 1085 c.998A>G c.(997-999)aAa>aGa p.K333R SLTM_ENST00000536328.1_Intron NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 333 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATCCTTTTCTTTGTCTCCAGA 0.443000 9 42 0 0 0.006214 0 0 GABRG1 2565 broad.mit.edu 37 4 46043072 46043072 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr4:46043072C>A ENST00000295452.4 - 9 1498 c.1331G>T c.(1330-1332)aGa>aTa p.R444I NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 444 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GAAAAATATTCTAGAATAAGA 0.383000 12 59 3.07112e-06 4.44196e-06 0.010729 1 0 RNF213 57674 broad.mit.edu 37 17 78324137 78324137 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:78324137C>T ENST00000582970.1 + 31 10268 c.10125C>T c.(10123-10125)ctC>ctT p.L3375L RNF213_ENST00000336301.6_Silent_p.L1448L|RNF213_ENST00000508628.2_Silent_p.L3424L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GTAAAATCCTCATTTTTCAGA 0.338000 4 29 0 0 0.000602 0 0 WT1-AS 51352 broad.mit.edu 37 11 32460611 32460611 + RNA SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:32460611G>C ENST00000395900.1 + 0 1489 WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA NR_023920.1 endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 GCATCTGACAGAGCGCGGAGC 0.592000 5 26 0 0 0.000602 0 0 HOXD4 3233 broad.mit.edu 37 2 177016641 177016641 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:177016641G>C ENST00000306324.3 + 1 692 c.280G>C c.(280-282)Gag>Cag p.E94Q HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 94 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) CGCTCCAGGAGAGCCTTGCCC 0.776000 3 8 0 0 0.004672 0 0 XRCC6BP1 91419 broad.mit.edu 37 12 58335497 58335497 + Missense_Mutation SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr12:58335497C>A ENST00000300145.3 + 1 138 c.13C>A c.(13-15)Ccg>Acg p.P5T NM_033276.2 NP_150592.1 Q9Y6H3 ATP23_HUMAN XRCC6 binding protein 1 5 double-strand break repair via nonhomologous end joining DNA-dependent protein kinase-DNA ligase 4 complex DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 11 GGCGGGAGCTCCGGACGAgcg 0.711000 6 7 3.59834e-05 5.116e-05 0.001168 1 0 MS4A1 931 broad.mit.edu 37 11 60229912 60229912 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:60229912C>T ENST00000534668.1 + 2 354 c.65C>T c.(64-66)gCt>gTt p.A22V MS4A1_ENST00000528313.1_Missense_Mutation_p.A22V|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Missense_Mutation_p.A22V|MS4A1_ENST00000389939.2_Missense_Mutation_p.A22V|MS4A1_ENST00000345732.4_Missense_Mutation_p.A22V NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 22 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GGCCCTATTGCTATGCAATCT 0.443000 23 25 0 0 0.002299 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1810496 1810496 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr16:1810496G>C ENST00000250894.4 + 12 1574 c.1417G>C c.(1417-1419)Gaa>Caa p.E473Q MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E467Q NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 473 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AGTCAAGCTGGAAAACCGTAT 0.592000 19 64 0 0 0.007413 0 0 FAM208B 54906 broad.mit.edu 37 10 5789825 5789825 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr10:5789825C>T ENST00000328090.5 + 15 5066 c.4441C>T c.(4441-4443)Cta>Tta p.L1481L NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1481 p.L1481V(1) CGAAATGCCTCTAATATTAAC 0.413000 5 29 0 0 0.000602 0 0 KLK10 5655 broad.mit.edu 37 19 51518712 51518712 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:51518712C>G ENST00000309958.3 - 5 857 c.639G>C c.(637-639)atG>atC p.M213I KLK10_ENST00000391805.1_Missense_Mutation_p.M213I|KLK10_ENST00000358789.3_Missense_Mutation_p.M213I NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 213 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CAGCACATATCATGTTGTTGG 0.562000 46 214 0 0 0.011902 0 0 SLC16A8 23539 broad.mit.edu 37 22 38476986 38476986 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr22:38476986G>A ENST00000320521.5 - 4 1167 c.1059C>T c.(1057-1059)ttC>ttT p.F353F SLC16A8_ENST00000469516.1_Intron NM_013356.2 NP_037488.2 O95907 MOT3_HUMAN solute carrier family 16 (monocarboxylate transporter), member 8 353 blood coagulation|leukocyte migration|pyruvate metabolic process integral to plasma membrane|membrane fraction lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity kidney(1)|large_intestine(1)|prostate(1) 3 Melanoma(58;0.045) Pyruvic acid(DB00119) AGGAGAGGCCGAAGGCGACGC 0.701000 3 8 0 0 0.009096 0 0 CEP72 55722 broad.mit.edu 37 5 640714 640714 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr5:640714G>C ENST00000264935.5 + 9 1624 c.1534G>C c.(1534-1536)Gag>Cag p.E512Q CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 512 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) CACACACAAGGAGCTGGTGAG 0.622000 4 70 0 0 0.009096 0 0 SOX9 6662 broad.mit.edu 37 17 70119832 70119832 + Silent SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:70119832G>A ENST00000245479.2 + 3 1206 c.834G>A c.(832-834)ctG>ctA p.L278L NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 278 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) TCGGCGAGCTGAGCAGCGACG 0.672000 14 115 0 0 0.001855 0 0 KLRG2 346689 broad.mit.edu 37 7 139168194 139168194 + Silent SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr7:139168194C>T ENST00000340940.4 - 1 264 c.195G>A c.(193-195)tcG>tcA p.S65S KLRG2_ENST00000393039.2_Silent_p.S65S NM_198508.2 NP_940910.1 A4D1S0 KLRG2_HUMAN killer cell lectin-like receptor subfamily G, member 2 65 Pro-rich. integral to membrane sugar binding central_nervous_system(1)|large_intestine(2)|lung(3) 6 Melanoma(164;0.233) TTTTCTTGCTCGAGGGCTCCA 0.746000 4 17 0 0 0.009096 0 0 ADD2 119 broad.mit.edu 37 2 70901855 70901855 + Missense_Mutation SNP C C G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr2:70901855C>G ENST00000264436.4 - 14 2140 c.1696G>C c.(1696-1698)Gag>Cag p.E566Q ADD2_ENST00000407644.2_Missense_Mutation_p.E566Q|ADD2_ENST00000355733.3_Missense_Mutation_p.E566Q NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTGTACTCCTCCAACTCCTGG 0.537000 12 68 0 0 0.010729 0 0 SHANK2 22941 broad.mit.edu 37 11 70505935 70505935 + Missense_Mutation SNP C C T TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:70505935C>T ENST00000338508.4 - 23 2061 c.2062G>A c.(2062-2064)Gag>Aag p.E688K SHANK2_ENST00000423696.2_Missense_Mutation_p.E308K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E99K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E99K|SHANK2_ENST00000409530.1_Missense_Mutation_p.E98K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E98K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E99K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 308 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GTCCCTACCTCAATCAAGAAG 0.612000 7 28 0 0 0.006214 0 0 XIST 7503 broad.mit.edu 37 X 73067788 73067788 + RNA SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chrX:73067788G>C ENST00000429829.1 - 0 4800 NR_001564.2 ACATTGTTGTGATCAGTTGCC 0.418000 4 57 0 0 0.009096 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24200927 24200927 + Silent SNP G G A rs143483716 TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:24200927G>A ENST00000382263.3 + 5 625 c.441G>A c.(439-441)ccG>ccA p.P147P TNFRSF19_ENST00000403372.2_Silent_p.P15P|TNFRSF19_ENST00000248484.4_Silent_p.P147P|TNFRSF19_ENST00000382258.4_Silent_p.P147P NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 147 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) CTTACGAACCGCACTGTGAGT 0.463000 24 10 0 0 0.006320 0 0 NDUFV2 4729 broad.mit.edu 37 18 9134252 9134252 + Missense_Mutation SNP G G C TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr18:9134252G>C ENST00000400033.1 + 9 851 c.734G>C c.(733-735)gGa>gCa p.G245A NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.G242A P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 242 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) AAGGGACCTGGATTTGGTGTA 0.363000 6 54 0 0 0.001168 0 0 SNHG12 85028 broad.mit.edu 37 1 28907692 28907692 + RNA DEL C C - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr1:28907692delC ENST00000488745.1 - 0 943 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA CCACGCTGTGCCAATAGCTGG 0.493 6 10 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cctcca>cca p.720_721PP>P NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 7 94 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gagaag>gag p.K545del RABL6_ENST00000311502.7_In_Frame_Del_p.K660del|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000357466.2_Intron RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 7 57 --- --- --- --- HSPA8 3312 broad.mit.edu 37 11 122928486 122928487 + Frame_Shift_Ins INS - - G TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr11:122928486_122928487insG ENST00000534624.1 - 9 2172_2173 c.1896_1897insC c.(1894-1899)ccctctfs p.S633fs HSPA8_ENST00000526110.1_Frame_Shift_Ins_p.S614fs|HSPA8_ENST00000534319.1_Frame_Shift_Ins_p.S397fs|HSPA8_ENST00000532636.1_Frame_Shift_Ins_p.S633fs|HSPA8_ENST00000227378.3_Frame_Shift_Ins_p.S633fs|HSPA8_ENST00000533540.1_Frame_Shift_Ins_p.S487fs|HSPA8_ENST00000453788.2_Frame_Shift_Ins_p.S480fs NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 633 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GCACCACCAGAGGGAGGAGCTC 0.510 39 62 --- --- --- --- RB1 5925 broad.mit.edu 37 13 49047527 49047530 + Splice_Site DEL GTGA GTGA - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr13:49047527_49047530delGTGA ENST00000267163.4 + 24 2658 c.e24+1 NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(15) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCATTCGGGGTGAGTATTTTCTT 0.270 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 35 48 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 2 4 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15995343 15995343 + Frame_Shift_Del DEL A A - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr17:15995343delA ENST00000268712.3 - 22 3107 c.2850delT c.(2848-2850)attfs p.I950fs NCOR1_ENST00000395851.1_Frame_Shift_Del_p.I966fs|NCOR1_ENST00000395848.1_Frame_Shift_Del_p.I857fs NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 950 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGGGGTTCCAATTGGTATGT 0.433 51 32 --- --- --- --- CACNG7 59284 broad.mit.edu 37 19 54418637 54418637 + Frame_Shift_Del DEL C C - TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr19:54418637delC ENST00000391767.1 + 4 514 c.302delC c.(301-303)accfs p.T101fs CACNG7_ENST00000222212.2_Frame_Shift_Del_p.T101fs|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Frame_Shift_Del_p.T101fs P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 101 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CGCACGGCCACCCCCTTCCCC 0.612 24 46 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11047597 11047598 + RNA INS - - A rs61660722 TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx b21c2b7d-c283-401e-abc1-17bc78aa36f3 710e318b-bf41-47c3-8094-08ea43433a91 g.chr21:11047597_11047598insA ENST00000470054.1 - 0 659 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCCGATTGTCTAAAAAGTAAGA 0.351 13 342 --- --- --- ---