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 MTURN 222166 broad.mit.edu 37 7 30174858 30174858 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:30174858G>T ENST00000324453.8 + 1 433 c.106G>T c.(106-108)Gac>Tac p.D36Y C7orf41_ENST00000415604.1_Missense_Mutation_p.D36Y|C7orf41_ENST00000409688.1_Missense_Mutation_p.D36Y NM_152793.2 NP_690006.2 Q8N3F0 CG041_HUMAN 36 NS(1)|large_intestine(2) 3 TTTCTACGCCGACCCCGGCGT 0.632000 10 12 2.17888e-05 2.27376e-05 0.058154 1 0 LRIG2 9860 broad.mit.edu 37 1 113652911 113652911 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:113652911G>T ENST00000361127.4 + 13 1723 c.1525G>T c.(1525-1527)Gct>Tct p.A509S LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 509 Ig-like C2-type 1. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) AACCATAATTGCTCTAAGAGG 0.428000 63 110 3.13296e-38 4.36859e-38 0.139131 1 0 SLITRK4 139065 broad.mit.edu 37 X 142717687 142717687 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:142717687A>G ENST00000381779.4 - 2 1463 c.1238T>C c.(1237-1239)aTt>aCt p.I413T SLITRK4_ENST00000356928.1_Missense_Mutation_p.I413T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I413T NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 413 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AATCACTGTAATTTGATTGCT 0.388000 131 25 0 0 0.139131 0 0 ZNF320 162967 broad.mit.edu 37 19 53384177 53384177 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53384177G>A ENST00000595635.1 - 8 1703 c.1202C>T c.(1201-1203)gCa>gTa p.A401V ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A401V|ZNF320_ENST00000600930.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TTGATGACATGCGAGGTACGC 0.388000 61 114 0 0 0.139131 0 0 BSX 390259 broad.mit.edu 37 11 122850115 122850115 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:122850115C>A ENST00000343035.2 - 2 361 c.313G>T c.(313-315)Ggg>Tgg p.G105W NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 105 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 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;0.0361) CAGTGCTTCCCCGGCAGCTCC 0.667000 31 14 4.02929e-09 4.35945e-09 0.153744 1 0 GRIA2 2891 broad.mit.edu 37 4 158262467 158262467 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:158262467C>T ENST00000296526.7 + 12 2221 c.1896C>T c.(1894-1896)atC>atT p.I632I GRIA2_ENST00000393815.2_Silent_p.I585I|GRIA2_ENST00000507898.1_Silent_p.I585I|GRIA2_ENST00000264426.9_Silent_p.I632I|GRIA2_ENST00000449365.1_Silent_p.I585I NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 632 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TTACCCTGATCATAATCTCCT 0.433000 154 58 0 0 0.139131 0 0 KIAA1109 84162 broad.mit.edu 37 4 123207877 123207877 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:123207877A>G ENST00000264501.4 + 53 9592 c.9219A>G c.(9217-9219)atA>atG p.I3073M KIAA1109_ENST00000388738.3_Missense_Mutation_p.I3073M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I3073M Q2LD37 K1109_HUMAN KIAA1109 3073 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGTGGAGTATAGATGAACTGC 0.378000 66 23 0 0 0.139131 0 0 KDM4B 23030 broad.mit.edu 37 19 5134010 5134010 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:5134010G>T ENST00000159111.4 + 14 2241 c.2023G>T c.(2023-2025)Gca>Tca p.A675S KDM4B_ENST00000536461.1_Missense_Mutation_p.A709S NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 675 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GAAGTTCAACGCAGCGGCTGC 0.667000 93 139 7.0407e-44 1.01681e-43 0.139131 1 0 FASN 2194 broad.mit.edu 37 17 80041269 80041269 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:80041269G>A ENST00000306749.2 - 32 5592 c.5374C>T c.(5374-5376)Cac>Tac p.H1792Y NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1792 Enoyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AGGACCCCGTGGAATGTCACG 0.652000 35 48 0 0 0.203993 0 0 ZNF117 51351 broad.mit.edu 37 7 64439659 64439659 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:64439659T>G ENST00000282869.5 - 4 1574 c.290A>C c.(289-291)aAt>aCt p.N97T NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 97 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) CTTGTGTCTATTTGAATTTGA 0.279000 35 48 0 0 0.163468 0 0 ATP10B 23120 broad.mit.edu 37 5 160115002 160115002 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:160115002G>A ENST00000327245.5 - 5 926 c.80C>T c.(79-81)aCc>aTc p.T27I ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 27 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) CAGCGGTGTGGTTTCCGATGG 0.547000 63 29 0 0 0.139131 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55441888 55441888 + Silent SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:55441888A>C ENST00000398661.2 - 2 317 c.186T>G c.(184-186)gcT>gcG p.A62A HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000358072.5_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 62 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) agtggatacaagccaccgtgc 0.438000 14 21 0 0 0.119110 0 0 OR5A2 219981 broad.mit.edu 37 11 59189575 59189575 + Silent SNP G G T rs150394868 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:59189575G>T ENST00000302040.4 - 1 874 c.852C>A c.(850-852)ccC>ccA p.P284P NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P284P(1) large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 GATTCACCACGGGGATCACCA 0.473000 55 66 6.4308e-24 8.06343e-24 0.139131 1 0 SCRIB 23513 broad.mit.edu 37 8 144877207 144877207 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:144877207C>A ENST00000356994.2 - 27 3853 c.e27+1 SCRIB_ENST00000377533.3_Splice_Site|SCRIB_ENST00000320476.3_Splice_Site NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGGGCACTCACCCTCTGCACG 0.682000 21 37 1.64113e-05 1.71815e-05 0.219247 1 0 AP5B1 91056 broad.mit.edu 37 11 65546371 65546371 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:65546371C>G ENST00000532090.2 - 2 1803 c.1593G>C c.(1591-1593)ccG>ccC p.P531P NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 474 protein binding lung(1) 1 CATCCCTGCCCGGCCTGGACA 0.607000 14 14 0 0 0.105934 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329715 88329715 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:88329715G>T ENST00000325089.6 + 2 2291 c.2072G>T c.(2071-2073)cGc>cTc p.R691L SLITRK5_ENST00000400028.3_Missense_Mutation_p.R450L NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 691 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GTCATGAAGCGCAGGAAGAAG 0.602000 25 18 1.55469e-16 1.78983e-16 0.083992 1 0 ZNF497 162968 broad.mit.edu 37 19 58868799 58868799 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:58868799C>A ENST00000311044.3 - 3 391 c.203G>T c.(202-204)gGa>gTa p.G68V ZNF497_ENST00000425453.3_Missense_Mutation_p.G68V|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) GCCGGGGCCTCCCTGTTCGTC 0.746000 6 11 0.000442599 0.000456717 0.058154 1 0 NLRP12 91662 broad.mit.edu 37 19 54314439 54314439 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:54314439G>T ENST00000324134.6 - 3 642 c.474C>A c.(472-474)acC>acA p.T158T NLRP12_ENST00000351894.4_Silent_p.T158T|NLRP12_ENST00000354278.3_Silent_p.T158T|NLRP12_ENST00000345770.5_Silent_p.T158T|NLRP12_ENST00000391772.1_Silent_p.T158T|NLRP12_ENST00000391773.1_Silent_p.T158T|NLRP12_ENST00000391775.3_Silent_p.T158T|NLRP12_ENST00000535162.1_Silent_p.T158T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 158 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCAGGAGCCGGGTGTACCGGT 0.617000 93 128 8.64784e-51 1.28921e-50 0.139131 1 0 TTC8 123016 broad.mit.edu 37 14 89338730 89338730 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:89338730C>A ENST00000338104.6 + 13 1381 c.1329C>A c.(1327-1329)aaC>aaA p.N443K TTC8_ENST00000346301.4_Missense_Mutation_p.N387K|TTC8_ENST00000358622.5_Missense_Mutation_p.N229K|TTC8_ENST00000536576.1_Missense_Mutation_p.N188K|TTC8_ENST00000380656.2_Missense_Mutation_p.N427K|TTC8_ENST00000354441.6_Missense_Mutation_p.N162K|TTC8_ENST00000345383.5_Missense_Mutation_p.N417K Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 453 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGGTCAACAACAACAACCACG 0.532000 63 18 1.12612e-26 1.43992e-26 0.139131 1 0 TRPM8 79054 broad.mit.edu 37 2 234904971 234904971 + Splice_Site SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:234904971T>G ENST00000324695.4 + 22 2981 c.2939_splice c.e22-1 p.Y981_splice TRPM8_ENST00000433712.2_Splice_Site_p.Y559_splice NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 981 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCTCACCAGCTACACGGTGGG 0.512000 45 74 0 0 0.139131 0 0 UBXN7 26043 broad.mit.edu 37 3 196098827 196098827 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:196098827G>A ENST00000296328.4 - 6 629 c.555C>T c.(553-555)cgC>cgT p.R185R UBXN7_ENST00000535858.1_Silent_p.R37R|UBXN7_ENST00000428095.1_Silent_p.R23R NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 185 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TCCACACATCGCGGTTGAGGC 0.413000 91 333 0 0 0.139131 0 0 RECQL4 9401 broad.mit.edu 37 8 145739431 145739431 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:145739431G>T ENST00000428558.2 - 12 1980 c.1939C>A c.(1939-1941)Cgc>Agc p.R647S RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 647 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGGCAGTGCGGCGTGTGGCT 0.672000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 4 4 1.23904e-05 1.30139e-05 0.184627 1 0 IGSF9B 22997 broad.mit.edu 37 11 133802070 133802070 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:133802070C>G ENST00000321016.8 - 8 1236 c.1006G>C c.(1006-1008)Gtg>Ctg p.V336L IGSF9B_ENST00000533871.2_Missense_Mutation_p.V336L Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 336 Ig-like 4. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCCACGGGCACGTAAATCACA 0.607000 8 2 0 0 0.058154 0 0 CENPF 1063 broad.mit.edu 37 1 214819347 214819347 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:214819347G>A ENST00000366955.3 + 13 6602 c.6434G>A c.(6433-6435)cGc>cAc p.R2145H NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2241 Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CTGAAAGAACGCGAGCGGGAG 0.468000 94 13 0 0 0.139131 0 0 RYR2 6262 broad.mit.edu 37 1 237711878 237711878 + Nonsense_Mutation SNP T T A rs113422365 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237711878T>A ENST00000366574.2 + 26 3371 c.3054T>A c.(3052-3054)taT>taA p.Y1018* RYR2_ENST00000542537.1_Nonsense_Mutation_p.Y1002*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Y1016* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1018 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTGGACTTATGGCATCCAAC 0.428000 42 11 0 0 0.257332 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444432 25444432 + RNA SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:25444432G>A ENST00000424208.1 + 0 1705 SNHG14_ENST00000424333.1_RNA NR_003305.1 AGGAAGACTTGCATTGGGCCC 0.582000 8 19 0 0 0.038147 0 0 MMP12 4321 broad.mit.edu 37 11 102742585 102742585 + RNA SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:102742585T>A ENST00000532855.1 - 0 544 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TTAATCTTGCTGAATTTCAAG 0.418000 30 2 0 0 0.134883 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032945 110032945 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:110032945G>A ENST00000369870.3 + 9 1304 c.1289G>A c.(1288-1290)cGc>cAc p.R430H NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 430 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GTGTTTAGCCGCCGGCTGGAC 0.577000 OREG0013635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 72 0 0 0.139131 0 0 MYH15 22989 broad.mit.edu 37 3 108159997 108159997 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:108159997C>T ENST00000273353.3 - 24 2882 c.2826G>A c.(2824-2826)gaG>gaA p.E942E NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 942 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AATTTATCTCCTCTTCTTCCT 0.478000 83 256 0 0 0.139131 0 0 ATG2A 23130 broad.mit.edu 37 11 64668018 64668018 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:64668018T>C ENST00000421419.2 - 31 4532 c.4418A>G c.(4417-4419)cAg>cGg p.Q1473R ATG2A_ENST00000377264.3_Missense_Mutation_p.Q1471R Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1471 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCTGCCCCCCTGCGTGCGCCA 0.642000 69 102 0 0 0.139131 0 0 HECTD3 79654 broad.mit.edu 37 1 45472642 45472642 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:45472642T>A ENST00000372172.4 - 12 1673 c.1602A>T c.(1600-1602)gcA>gcT p.A534A HECTD3_ENST00000372168.3_Silent_p.A144A NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 534 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) TGATGCCTTCTGCAATAAATT 0.507000 34 53 0 0 0.257332 0 0 COL6A3 1293 broad.mit.edu 37 2 238283363 238283363 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:238283363G>C ENST00000295550.4 - 8 3823 c.3371C>G c.(3370-3372)gCg>gGg p.A1124G COL6A3_ENST00000346358.4_Missense_Mutation_p.A924G|COL6A3_ENST00000347401.3_Missense_Mutation_p.A923G|COL6A3_ENST00000472056.1_Missense_Mutation_p.A517G|COL6A3_ENST00000409809.1_Missense_Mutation_p.A918G|COL6A3_ENST00000392003.2_Missense_Mutation_p.A717G|COL6A3_ENST00000392004.3_Missense_Mutation_p.A918G|COL6A3_ENST00000353578.4_Missense_Mutation_p.A918G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1124 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCTGCTTCCCGCAGAGCTGAC 0.647000 45 68 0 0 0.124865 0 0 MTNR1B 4544 broad.mit.edu 37 11 92714792 92714792 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:92714792G>C ENST00000257068.2 + 2 409 c.403G>C c.(403-405)Gcc>Ccc p.A135P NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 135 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CACTGCCATCGCCATTAACCG 0.597000 48 11 0 0 0.139131 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157206 65157206 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:65157206G>C ENST00000323544.4 + 6 720 c.592G>C c.(592-594)Gag>Cag p.E198Q AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 198 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCAACCTCGGGAGACACCCCG 0.622000 59 149 0 0 0.139131 0 0 ATP8A2 51761 broad.mit.edu 37 13 26129169 26129169 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:26129169T>A ENST00000381655.2 + 13 1368 c.1226T>A c.(1225-1227)aTg>aAg p.M409K ATP8A2_ENST00000255283.8_Missense_Mutation_p.M369K NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 369 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ACTCCTGCCATGGCCAGGACA 0.418000 61 19 0 0 0.139131 0 0 LAMA2 3908 broad.mit.edu 37 6 129775417 129775417 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:129775417C>A ENST00000421865.2 + 47 6740 c.6691C>A c.(6691-6693)Cgt>Agt p.R2231S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2231 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATATTGGTACCGTATCGTAGC 0.363000 47 46 2.81731e-22 3.44574e-22 0.139131 1 0 CPED1 79974 broad.mit.edu 37 7 120629907 120629907 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:120629907G>A ENST00000310396.5 + 2 699 c.232G>A c.(232-234)Gcc>Acc p.A78T CPED1_ENST00000450913.2_Missense_Mutation_p.A78T|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.A78T NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 CTCTGGTAATGCCCAGGAAAC 0.458000 60 98 0 0 0.139131 0 0 OGFOD3 79701 broad.mit.edu 37 17 80352369 80352369 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:80352369G>T ENST00000329197.5 - 9 964 c.874C>A c.(874-876)Ccg>Acg p.P292T OGFOD3_ENST00000313056.5_Intron 2-oxoglutarate and iron-dependent oxygenase domain containing 3 CTGGCTCTCGGTCCATTAACT 0.572000 81 62 1.78839e-46 2.62974e-46 0.139131 1 0 UNC13C 440279 broad.mit.edu 37 15 54307549 54307549 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:54307549C>A ENST00000545554.1 + 1 2449 c.2449C>A c.(2449-2451)Cag>Aag p.Q817K UNC13C_ENST00000260323.11_Missense_Mutation_p.Q817K|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q817K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 817 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAAAAGCACACAGAGTCTGAG 0.428000 33 45 1.60099e-16 1.83985e-16 0.214465 1 0 POLR2G 5436 broad.mit.edu 37 11 62533149 62533149 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:62533149G>T ENST00000301788.7 + 6 529 c.424G>T c.(424-426)Gag>Tag p.E142* NM_002696.2 NP_002687.1 P62487 RPB7_HUMAN polymerase (RNA) II (DNA directed) polypeptide G 142 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|protein binding|RNA binding lung(3) 3 GCAGGACGATGAGATCCGCTT 0.468000 67 100 3.41413e-29 4.45351e-29 0.139131 1 0 ITFG2 55846 broad.mit.edu 37 12 2929961 2929961 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:2929961G>A ENST00000228799.2 + 6 757 c.618G>A c.(616-618)gcG>gcA p.A206A ITFG2_ENST00000419778.2_Silent_p.A29A|ITFG2_ENST00000542548.1_Silent_p.A94A NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 206 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CAGGTTGTGCGTATGCAATTC 0.562000 38 63 0 0 0.235728 0 0 ZIC1 7545 broad.mit.edu 37 3 147128064 147128064 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:147128064G>C ENST00000282928.4 + 1 894 c.165G>C c.(163-165)gaG>gaC p.E55D NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 55 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E55D(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GTTCGCACGAGCTGGCTTCGG 0.711000 89 50 0 0 0.139131 0 0 AKR1D1 6718 broad.mit.edu 37 7 137773407 137773407 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:137773407A>G ENST00000242375.3 + 2 196 c.154A>G c.(154-156)Att>Gtt p.I52V AKR1D1_ENST00000432161.1_Missense_Mutation_p.I52V|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.I52V NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 52 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 GTACCGACATATTGATGGGGC 0.488000 32 41 0 0 0.153744 0 0 C1orf173 127254 broad.mit.edu 37 1 75037355 75037355 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:75037355C>A ENST00000326665.5 - 14 4257 c.4039G>T c.(4039-4041)Ggt>Tgt p.G1347C C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1347 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GCCGTTTCACCACCTCCGTGT 0.537000 44 66 2.14255e-21 2.57664e-21 0.139131 1 0 NSUN3 63899 broad.mit.edu 37 3 93783306 93783306 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:93783306T>A ENST00000314622.4 + 2 249 c.38T>A c.(37-39)cTt>cAt p.L13H NSUN3_ENST00000485793.1_3'UTR NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 13 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 GAGGGGAAGCTTGCAAAACAG 0.363000 30 104 0 0 0.153744 0 0 OR2A25 392138 broad.mit.edu 37 7 143772005 143772005 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:143772005G>C ENST00000408898.2 + 1 731 c.693G>C c.(691-693)gaG>gaC p.E231D NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 231 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) AGTCAGGAGAGGGGTGCCAGA 0.483000 92 140 0 0 0.139131 0 0 TMEM8C 389827 broad.mit.edu 37 9 136380685 136380685 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:136380685G>A ENST00000339996.3 - 4 545 c.444C>T c.(442-444)agC>agT p.S148S TMEM8C_ENST00000413714.1_5'UTR NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 148 integral to membrane p.S148R(2) NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 GGGTGTAGACGCTCTTGTCTG 0.597000 47 68 0 0 0.139131 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43630658 43630658 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:43630658G>A ENST00000332857.6 - 1 72 c.44C>T c.(43-45)tCg>tTg p.S15L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GGCGTTTAGCGATGAGGCACT 0.488000 80 25 0 0 0.139131 0 0 NLGN4X 57502 broad.mit.edu 37 X 6069249 6069249 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:6069249G>T ENST00000381095.3 - 2 886 c.259C>A c.(259-261)Cgg>Agg p.R87R NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.R87R|NLGN4X_ENST00000381092.1_Silent_p.R87R|NLGN4X_ENST00000275857.6_Silent_p.R87R|NLGN4X_ENST00000538097.1_Silent_p.R87R NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 87 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGCTGAAACCGCCTCTCTCCA 0.572000 75 12 6.20995e-33 8.30132e-33 0.139131 1 0 PHIP 55023 broad.mit.edu 37 6 79679576 79679576 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:79679576C>A ENST00000275034.4 - 27 3348 c.3181G>T c.(3181-3183)Gca>Tca p.A1061S PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1061 Mediates interaction with IRS1 (By similarity). insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTGTATTTTGCATCATCAAAT 0.308000 21 37 3.10358e-05 3.23352e-05 0.249174 1 0 CAV1 857 broad.mit.edu 37 7 116164934 116164934 + Translation_Start_Site SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:116164934A>T ENST00000341049.2 + 0 96 NM_001753.4 NP_001744.2 Q03135 CAV1_HUMAN caveolin 1, caveolae protein, 22kDa blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) GGCGCAGCACACGTCCGGGCC 0.677000 12 14 0 0 0.093190 0 0 CDH7 1005 broad.mit.edu 37 18 63489364 63489364 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:63489364C>A ENST00000536984.2 + 5 1367 c.673C>A c.(673-675)Cag>Aag p.Q225K CDH7_ENST00000397968.2_Missense_Mutation_p.Q225K|CDH7_ENST00000323011.3_Missense_Mutation_p.Q225K Q9ULB5 CADH7_HUMAN cadherin 7, type 2 225 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GGCTAAAGACCAGTATTTGCT 0.403000 43 60 1.02591e-13 1.15437e-13 0.117977 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90502556 90502556 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:90502556A>C ENST00000325643.5 + 4 3220 c.3154A>C c.(3154-3156)Agt>Cgt p.S1052R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CTTGGGAGCCAGTGTGAGGGC 0.592000 64 121 0 0 0.139131 0 0 AC008268.2 0 broad.mit.edu 37 2 96458199 96458199 + RNA SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:96458199G>T ENST00000471661.1 + 0 217 GTGGTCGTCAGGCTTTGGGAT 0.577000 8 36 6.40141e-05 6.64801e-05 0.080935 1 0 SSTR4 6754 broad.mit.edu 37 20 23016732 23016732 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:23016732C>A ENST00000255008.3 + 1 676 c.612C>A c.(610-612)caC>caA p.H204Q RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 204 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGTGGCCACACCCGGCCTGGT 0.657000 37 107 1.00953e-15 1.15197e-15 0.131918 1 0 DCC 1630 broad.mit.edu 37 18 51013172 51013172 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:51013172G>C ENST00000442544.2 + 26 4358 c.3742G>C c.(3742-3744)Gtg>Ctg p.V1248L RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.V883L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1248 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.V1248M(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGCAGCTGTCGTGAGCGCCAT 0.488000 80 100 0 0 0.139131 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496764 20496764 + RNA SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:20496764A>G ENST00000555186.1 + 0 817 NR_038836.1 TGTTTTTTATAGTGTGTATTT 0.358000 4 21 0 0 0.150653 0 0 REG1A 5967 broad.mit.edu 37 2 79348763 79348763 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:79348763G>T ENST00000233735.1 + 3 243 c.140G>T c.(139-141)tGc>tTc p.C47F NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 47 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 CGCTCCTACTGCTACTACTTT 0.542000 133 199 1.3892e-51 2.08059e-51 0.139131 1 0 ABCA9 10350 broad.mit.edu 37 17 67041454 67041454 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:67041454C>G ENST00000340001.4 - 4 539 c.328G>C c.(328-330)Gat>Cat p.D110H ABCA9_ENST00000453985.2_Missense_Mutation_p.D110H|ABCA9_ENST00000495634.1_Missense_Mutation_p.D110H|ABCA9_ENST00000370732.2_Missense_Mutation_p.D110H NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 110 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTTTTTTCATCAGGCCACCCC 0.378000 61 123 0 0 0.139131 0 0 SI 6476 broad.mit.edu 37 3 164786619 164786619 + Splice_Site SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:164786619C>G ENST00000264382.3 - 5 436 c.373_splice c.e5-1 p.G125_splice NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 125 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGCTTCAACTCCTTAAAGAAT 0.303000 HNSCC(35;0.089) 5 253 0 0 0.184627 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3664871 3664871 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:3664871C>T ENST00000335312.3 - 3 256 c.168G>A c.(166-168)aaG>aaA p.K56K PIP5K1C_ENST00000537021.1_Silent_p.K56K|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Silent_p.K56K|PIP5K1C_ENST00000539785.1_Silent_p.K56K NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 56 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCCAACTTCTTCCCATGGC 0.632000 90 121 0 0 0.139131 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260672 30260672 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:30260672C>T ENST00000378982.2 + 1 616 c.420C>T c.(418-420)agC>agT p.S140S NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 140 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 AGATCATCAGCAAAAAGTACA 0.473000 25 3 0 0 0.099896 0 0 CFAP221 200373 broad.mit.edu 37 2 120413946 120413946 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:120413946A>G ENST00000602047.1 + 25 2677 c.1565A>G c.(1564-1566)aAa>aGa p.K522R PCDP1_ENST00000413369.3_Missense_Mutation_p.K808R Q4G0U5 PCDP1_HUMAN 808 cilium calmodulin binding Colorectal(110;0.196) AGAGAAGTGAAAGATCAAGCA 0.498000 30 47 0 0 0.134883 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71189914 71189914 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:71189914C>G ENST00000234396.4 + 9 866 c.793C>G c.(793-795)Cgg>Ggg p.R265G ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R265G|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 265 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 CAGGATCGAGCGGATCATCAC 0.582000 35 83 0 0 0.203993 0 0 TANC2 26115 broad.mit.edu 37 17 61489388 61489388 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:61489388G>A ENST00000424789.2 + 21 3577 c.3573G>A c.(3571-3573)atG>atA p.M1191I RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.M1191I NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1191 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 ATGGGGCCATGATCGAGCACG 0.542000 43 41 0 0 0.257332 0 0 EOMES 8320 broad.mit.edu 37 3 27763724 27763724 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:27763724G>T ENST00000295743.4 - 1 265 c.62C>A c.(61-63)cCg>cAg p.P21Q EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.P21Q|EOMES_ENST00000537516.1_Intron O95936 EOMES_HUMAN eomesodermin 21 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ACTCTCCAGCGGGTAGAAGTG 0.642000 6 2 0.00198382 0.00203412 0.248553 1 0 SEMA5A 9037 broad.mit.edu 37 5 9052125 9052125 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:9052125C>T ENST00000382496.5 - 20 3370 c.2705G>A c.(2704-2706)tGg>tAg p.W902* NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 902 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCAGTCCGACCACTCCGACCA 0.587000 16 46 0 0 0.132662 0 0 ATP8B4 79895 broad.mit.edu 37 15 50336882 50336882 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:50336882G>T ENST00000284509.6 - 5 350 c.209C>A c.(208-210)cCa>cAa p.P70Q ATP8B4_ENST00000559829.1_Missense_Mutation_p.P70Q NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 70 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 breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGAAATTTCTGGAATTAGCTG 0.353000 22 37 1.10513e-12 1.23492e-12 0.249174 1 0 RYR2 6262 broad.mit.edu 37 1 237778123 237778123 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237778123C>T ENST00000366574.2 + 37 6012 c.5695C>T c.(5695-5697)Cca>Tca p.P1899S RYR2_ENST00000542537.1_Missense_Mutation_p.P1883S|RYR2_ENST00000360064.6_Missense_Mutation_p.P1897S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1899 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AATGAAACTGCCAGAGCCAGT 0.468000 63 9 0 0 0.139131 0 0 MUC17 140453 broad.mit.edu 37 7 100677017 100677017 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:100677017A>T ENST00000306151.4 + 3 2384 c.2320A>T c.(2320-2322)Aca>Tca p.T774S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 774 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTCTTGACACAAGCACACA 0.468000 226 310 0 0 0.139131 0 0 LIMK1 3984 broad.mit.edu 37 7 73521389 73521389 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:73521389C>T ENST00000418310.1 + 8 1123 c.1021C>T c.(1021-1023)Ccg>Tcg p.P341S LIMK1_ENST00000336180.2_Missense_Mutation_p.P311S|LIMK1_ENST00000538333.3_Missense_Mutation_p.P277S P53667 LIMK1_HUMAN LIM domain kinase 1 311 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) ACTGGGCTCCCCGGCCTCCCA 0.701000 13 16 0 0 0.093190 0 0 CSMD3 114788 broad.mit.edu 37 8 113277643 113277643 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:113277643T>C ENST00000297405.5 - 60 9929 c.9685A>G c.(9685-9687)Aga>Gga p.R3229G CSMD3_ENST00000343508.3_Missense_Mutation_p.R3189G|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3159G|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3060G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3229 Sushi 24. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATCATACCTCTACAAGTTGGC 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 81 114 0 0 0.139131 0 0 CELA3B 23436 broad.mit.edu 37 1 22304901 22304901 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:22304901G>T ENST00000337107.6 + 2 102 c.83G>T c.(82-84)cGc>cTc p.R28L NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 28 cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 CCTTCCAGCCGCGTTGTCAAT 0.612000 42 23 6.27289e-28 8.13339e-28 0.139131 1 0 RAC1 5879 broad.mit.edu 37 7 6441558 6441558 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:6441558A>C ENST00000348035.4 + 5 561 c.348A>C c.(346-348)aaA>aaC p.K116N RAC1_ENST00000356142.4_Missense_Mutation_p.K135N|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 116 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) TGGGAACTAAACTTGATCTTA 0.493000 79 79 0 0 0.139131 0 0 COL4A4 1286 broad.mit.edu 37 2 227985813 227985813 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:227985813G>A ENST00000396625.3 - 5 451 c.244C>T c.(244-246)Cca>Tca p.P82S COL4A4_ENST00000329662.7_Missense_Mutation_p.P82S NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 82 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ATGGGTCCTGGGGCTCCCAGG 0.542000 59 72 0 0 0.139131 0 0 ABCC9 10060 broad.mit.edu 37 12 21965011 21965011 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:21965011C>A ENST00000261200.4 - 34 4182 c.4183G>T c.(4183-4185)Gat>Tat p.D1395Y ABCC9_ENST00000345162.2_Missense_Mutation_p.D1359Y|ABCC9_ENST00000261201.4_Missense_Mutation_p.D1395Y NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1395 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTATTGGATCCTGCAGAATG 0.378000 52 113 1.12612e-26 1.43992e-26 0.139131 1 0 OR5AN1 390195 broad.mit.edu 37 11 59132216 59132216 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:59132216T>C ENST00000313940.2 + 1 332 c.285T>C c.(283-285)ttT>ttC p.F95F NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 CTATCACTTTTGTTGGTTGTA 0.423000 158 229 0 0 0.139131 0 0 CTNND2 1501 broad.mit.edu 37 5 11346684 11346684 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:11346684G>T ENST00000304623.8 - 9 1617 c.1428C>A c.(1426-1428)caC>caA p.H476Q CTNND2_ENST00000503622.1_Missense_Mutation_p.H139Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.H476Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.H385Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.H43Q NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 476 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCTGTGGGCCGTGCTGGCTGC 0.617000 46 98 3.68427e-32 4.88468e-32 0.117977 1 0 MAGEA6 4105 broad.mit.edu 37 X 151869846 151869846 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:151869846C>G ENST00000329342.5 + 3 761 c.536C>G c.(535-537)gCc>gGc p.A179G NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 179 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TACATCTTTGCCACCTGCCTG 0.527000 102 18 0 0 0.139131 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135878405 135878405 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:135878405C>T ENST00000264158.8 + 8 708 c.665C>T c.(664-666)cCa>cTa p.P222L RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P178L|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P222L NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 222 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) CCTTTAACTCCATTGCCTCCA 0.378000 93 138 0 0 0.139131 0 0 KIF1B 23095 broad.mit.edu 37 1 10386207 10386207 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:10386207C>T ENST00000377086.1 + 27 2916 c.2714C>T c.(2713-2715)gCc>gTc p.A905V KIF1B_ENST00000377081.1_Missense_Mutation_p.A905V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A859V O60333 KIF1B_HUMAN kinesin family member 1B 905 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GAGCGCCTTGCCGACCGCACA 0.542000 5 244 0 0 0.217242 0 0 FAT1 2195 broad.mit.edu 37 4 187630465 187630465 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:187630465C>G ENST00000441802.2 - 2 726 c.517G>C c.(517-519)Gcc>Ccc p.A173P NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 173 Cadherin 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCATCCGTGGCGCTGACTCTT 0.438000 HNSCC(5;0.00058) 137 35 0 0 0.139131 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 3 76 0 0 0.248553 0 0 LRP2 4036 broad.mit.edu 37 2 170062967 170062967 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:170062967G>A ENST00000263816.3 - 39 7548 c.7263C>T c.(7261-7263)gtC>gtT p.V2421V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2421 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTAGAGACATGACAGTTCTTT 0.413000 71 96 0 0 0.139131 0 0 ERMAP 114625 broad.mit.edu 37 1 43308691 43308691 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:43308691A>G ENST00000328249.3 + 9 1984 c.946A>G c.(946-948)Aca>Gca p.T316A RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.2_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.T406A|ERMAP_ENST00000372517.2_Missense_Mutation_p.T406A|RP11-342M1.3_ENST00000425076.1_RNA Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 406 B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGAAAAAACACAGCACCTCT 0.463000 62 115 0 0 0.139131 0 0 C20orf26 26074 broad.mit.edu 37 20 20177362 20177362 + Missense_Mutation SNP G G T rs115927004 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:20177362G>T ENST00000245957.5 + 16 1815 c.1739G>T c.(1738-1740)cGt>cTt p.R580L C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 580 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GAGATCCTGCGTTTAGGCTTT 0.483000 120 187 5.01229e-73 7.68472e-73 0.139131 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58549383 58549383 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:58549383G>C ENST00000282326.1 + 3 426 c.179G>C c.(178-180)tGg>tCg p.W60S ZSCAN1_ENST00000601162.1_Missense_Mutation_p.W60S|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.W60S NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 60 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W60*(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGCCAGCTCTGGACGCTGTGC 0.711000 8 7 0 0 0.093190 0 0 ZFP42 132625 broad.mit.edu 37 4 188924029 188924029 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:188924029G>T ENST00000326866.4 + 4 476 c.68G>T c.(67-69)aGt>aTt p.S23I ZFP42_ENST00000509524.1_Missense_Mutation_p.S23I NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 23 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AGAGCCCCCAGTGGGGCTAAG 0.547000 50 15 3.21987e-24 4.04516e-24 0.139131 1 0 FILIP1L 11259 broad.mit.edu 37 3 99567165 99567165 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:99567165G>A ENST00000331335.5 - 5 3825 c.3355C>T c.(3355-3357)Cct>Tct p.P1119S FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P879S|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P1119S|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P879S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P695S|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 1119 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CGAGGAAGAGGTGTGGCTGTT 0.413000 75 258 0 0 0.139131 0 0 CTNND1 1500 broad.mit.edu 37 11 57569636 57569636 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:57569636C>A ENST00000524630.1 + 7 1901 c.1388C>A c.(1387-1389)gCt>gAt p.A463D CTNND1_ENST00000361391.6_Missense_Mutation_p.A463D|CTNND1_ENST00000358694.6_Missense_Mutation_p.A463D|CTNND1_ENST00000399050.4_Missense_Mutation_p.A463D|CTNND1_ENST00000525902.1_Missense_Mutation_p.A140D|CTNND1_ENST00000532463.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529919.1_Missense_Mutation_p.A463D|CTNND1_ENST00000361796.4_Missense_Mutation_p.A463D|CTNND1_ENST00000532245.1_Missense_Mutation_p.A362D|CTNND1_ENST00000532649.1_Missense_Mutation_p.A409D|CTNND1_ENST00000529873.1_Missense_Mutation_p.A409D|CTNND1_ENST00000360682.6_Missense_Mutation_p.A463D|CTNND1_ENST00000534579.1_Missense_Mutation_p.A409D|CTNND1_ENST00000533667.1_Missense_Mutation_p.A140D|CTNND1_ENST00000399039.4_Missense_Mutation_p.A463D|CTNND1_ENST00000531014.1_Missense_Mutation_p.A140D|CTNND1_ENST00000529526.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526357.1_Missense_Mutation_p.A409D|CTNND1_ENST00000528621.1_Missense_Mutation_p.A409D|CTNND1_ENST00000530094.1_Missense_Mutation_p.A362D|CTNND1_ENST00000530748.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526938.1_Missense_Mutation_p.A463D|CTNND1_ENST00000526772.1_Missense_Mutation_p.A140D|CTNND1_ENST00000532787.1_Missense_Mutation_p.A362D|CTNND1_ENST00000428599.2_Missense_Mutation_p.A463D|CTNND1_ENST00000527467.1_Missense_Mutation_p.A140D|CTNND1_ENST00000426142.2_Missense_Mutation_p.A362D|CTNND1_ENST00000532844.1_Missense_Mutation_p.A409D|CTNND1_ENST00000415361.2_Missense_Mutation_p.A362D|CTNND1_ENST00000361332.4_Missense_Mutation_p.A463D|CTNND1_ENST00000528232.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529986.1_Missense_Mutation_p.A362D O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 463 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CTTCGAAAGGCTCGTGATATG 0.443000 160 294 2.83121e-50 4.21101e-50 0.139131 1 0 ACTR5 79913 broad.mit.edu 37 20 37395021 37395021 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:37395021G>A ENST00000243903.4 + 7 1470 c.e7+1 NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) TTCTGGACAGGTGAGACAGCG 0.433000 362 140 0 0 0.139131 0 0 ABCC2 1244 broad.mit.edu 37 10 101591439 101591439 + Silent SNP G G A rs139082536 byFrequency TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:101591439G>A ENST00000370449.4 + 22 3068 c.2955G>A c.(2953-2955)gcG>gcA p.A985A NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 985 ABC transmembrane type-1 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.A985A(1) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCATCCTTGCGTTTGTGATGA 0.433000 6 181 0 0 0.248553 0 0 ARID4B 51742 broad.mit.edu 37 1 235345469 235345469 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:235345469T>G ENST00000264183.3 - 20 3262 c.2765A>C c.(2764-2766)aAa>aCa p.K922T ARID4B_ENST00000349213.3_Missense_Mutation_p.K836T|ARID4B_ENST00000366603.2_Missense_Mutation_p.K922T NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TTTTCGATCTTTGGCCCTGCT 0.408000 191 31 0 0 0.139131 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018684 161018684 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:161018684A>G ENST00000368013.3 - 12 2447 c.2127T>C c.(2125-2127)agT>agC p.S709S ARHGAP30_ENST00000368015.1_Silent_p.S532S|ARHGAP30_ENST00000368016.3_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 709 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TCTCTTCCCTACTCCCTTCTC 0.527000 263 354 0 0 0.139131 0 0 ELAVL4 1996 broad.mit.edu 37 1 50659494 50659494 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:50659494G>A ENST00000371824.1 + 4 669 c.412G>A c.(412-414)Ggc>Agc p.G138S ELAVL4_ENST00000357083.4_Missense_Mutation_p.G155S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G141S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G138S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G143S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G138S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.G143S P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 138 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 CTATGTTAGCGGCCTTCCCAA 0.488000 105 140 0 0 0.139131 0 0 LAMB2 3913 broad.mit.edu 37 3 49161040 49161040 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:49161040C>T ENST00000418109.1 - 26 3986 c.3822G>A c.(3820-3822)gaG>gaA p.E1274E LAMB2_ENST00000305544.4_Silent_p.E1274E NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1274 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAGTCAGGTGCTCAGTGGCCT 0.557000 69 25 0 0 0.139131 0 0 MYH13 8735 broad.mit.edu 37 17 10265781 10265781 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:10265781G>T ENST00000418404.3 - 3 407 c.244C>A c.(244-246)Cct>Act p.P82T MYH13_ENST00000252172.4_Missense_Mutation_p.P82T|MYH13_ENST00000570743.1_Missense_Mutation_p.P82T Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 82 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AATTTGGGAGGGTTCATGGGG 0.478000 94 164 1.52783e-54 2.29884e-54 0.139131 1 0 ZNF292 23036 broad.mit.edu 37 6 87928449 87928449 + Splice_Site SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:87928449G>C ENST00000369577.3 + 4 581 c.538_splice c.e4+1 p.V180_splice ZNF292_ENST00000339907.4_Splice_Site_p.A180_splice|ZNF292_ENST00000369578.2_3'UTR NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAAGGATAAAGGTAAATTTTC 0.328000 6 8 0 0 0.217242 0 0 CALN1 83698 broad.mit.edu 37 7 71571224 71571224 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:71571224C>T ENST00000395275.2 - 4 688 c.300G>A c.(298-300)aaG>aaA p.K100K CALN1_ENST00000405452.2_Silent_p.K58K|CALN1_ENST00000412588.1_Silent_p.K100K|CALN1_ENST00000431984.1_Silent_p.K58K|CALN1_ENST00000329008.5_Silent_p.K58K|CALN1_ENST00000395276.2_Silent_p.K58K NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 58 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) CCAGCTCCTGCTTGGAGATGA 0.567000 28 33 0 0 0.108266 0 0 A2M 2 broad.mit.edu 37 12 9262518 9262518 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:9262518C>T ENST00000318602.7 - 6 925 c.618G>A c.(616-618)gtG>gtA p.V206V NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 206 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TCTTCTGTACCACCACCTTGT 0.458000 127 186 0 0 0.139131 0 0 ZNF253 56242 broad.mit.edu 37 19 20002455 20002455 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:20002455C>G ENST00000589717.1 + 4 491 c.399C>G c.(397-399)aaC>aaG p.N133K ZNF253_ENST00000355650.4_Missense_Mutation_p.N57K NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 133 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGGACTTAACCAATGTTTGA 0.323000 28 66 0 0 0.125774 0 0 CPN2 1370 broad.mit.edu 37 3 194063363 194063363 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:194063363G>T ENST00000323830.3 - 2 158 c.69C>A c.(67-69)ccC>ccA p.P23P CPN2_ENST00000429275.1_Silent_p.P23P NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 23 LRRNT. protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CACAACCCATGGGACAGGGCT 0.582000 237 88 6.35764e-115 9.84065e-115 0.139131 1 0 MPDZ 8777 broad.mit.edu 37 9 13196141 13196141 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:13196141C>T ENST00000319217.7 - 13 1882 c.1635G>A c.(1633-1635)atG>atA p.M545I MPDZ_ENST00000536827.1_Missense_Mutation_p.M545I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M545I|MPDZ_ENST00000541718.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M545I|MPDZ_ENST00000447879.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M545I NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 545 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) AGTTAATTCCCATAATCCTTT 0.383000 11 3 0 0 0.080935 0 0 ROBO2 6092 broad.mit.edu 37 3 77666777 77666777 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:77666777G>A ENST00000461745.1 + 22 4307 c.3407G>A c.(3406-3408)gGc>gAc p.G1136D ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.G1152D|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1136D NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1136 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCTGTTCGAGGCGTGGCTTCT 0.527000 85 21 0 0 0.139131 0 0 GATA3-AS1 399717 broad.mit.edu 37 10 8092959 8092959 + RNA SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:8092959G>T ENST00000355358.1 - 0 1667 NR_024256.1 TGGCTCTGGTGGGTGGCCCGG 0.741000 12 3 5.16669e-11 5.70452e-11 0.080935 1 0 GPR128 84873 broad.mit.edu 37 3 100373869 100373869 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:100373869C>A ENST00000273352.3 + 12 1838 c.1570C>A c.(1570-1572)Ccc>Acc p.P524T GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P229T NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 524 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CATCCCGAATCCCATGTGCAC 0.423000 286 380 2.29708e-82 3.53019e-82 0.139131 1 0 SNHG14 104472715 broad.mit.edu 37 15 25415898 25415898 + RNA SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:25415898C>A ENST00000549301.1 + 0 327 SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA TTATATTATCCTGAAGAGAGG 0.537000 5 350 0.217242 0.218934 0.217242 1 0 ATM 472 broad.mit.edu 37 11 108213984 108213984 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:108213984A>G ENST00000278616.4 + 57 8689 c.8304A>G c.(8302-8304)gaA>gaG p.E2768E C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.E2768E NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2768 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTGTTCTTGAATGGTGCACAG 0.403000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 158 56 0 0 0.139131 0 0 MUC4 4585 broad.mit.edu 37 3 195505813 195505813 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:195505813T>C ENST00000463781.3 - 2 13097 c.12638A>G c.(12637-12639)gAc>gGc p.D4213G MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213G(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGG 0.592000 4 26 0 0 0.150653 0 0 PGM1 5236 broad.mit.edu 37 1 64117492 64117492 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:64117492A>T ENST00000371083.4 + 9 1855 c.1487A>T c.(1486-1488)gAc>gTc p.D496V PGM1_ENST00000371084.3_Missense_Mutation_p.D478V|PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000540265.1_Missense_Mutation_p.D281V NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 478 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GAATACAGCGACCCAGTGGAT 0.463000 21 53 0 0 0.249174 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829578 146829578 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:146829578T>A ENST00000361727.3 + 8 1841 c.1325T>A c.(1324-1326)aTg>aAg p.M442K NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 442 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGACCAAGATGAGCCAAATC 0.408000 HNSCC(39;0.1) 48 69 0 0 0.139131 0 0 USP13 8975 broad.mit.edu 37 3 179472519 179472519 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:179472519G>T ENST00000263966.3 + 15 2269 c.e15-1 USP13_ENST00000496897.1_Splice_Site|USP13_ENST00000482333.1_Intron NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TCATTTTGCAGATGTTTCTAT 0.448000 89 293 1.54307e-61 2.3491e-61 0.139131 1 0 ADAL 161823 broad.mit.edu 37 15 43627996 43627996 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:43627996G>A ENST00000422466.2 + 5 740 c.166G>A c.(166-168)Gac>Aac p.D56N ADAL_ENST00000389651.4_Missense_Mutation_p.D56N|ADAL_ENST00000562188.1_Missense_Mutation_p.D56N|ADAL_ENST00000428046.3_Missense_Mutation_p.D56N Q6DHV7 ADAL_HUMAN adenosine deaminase-like 56 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GACTGTGATTGACAAGGGAAA 0.378000 88 110 0 0 0.139131 0 0 GPR22 2845 broad.mit.edu 37 7 107115363 107115363 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:107115363T>A ENST00000304402.4 + 3 2201 c.858T>A c.(856-858)acT>acA p.T286T COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron NM_005295.2 NP_005286.2 Q99680 GPR22_HUMAN G protein-coupled receptor 22 286 integral to plasma membrane G-protein coupled receptor activity large_intestine(3)|lung(6)|ovary(2)|stomach(1) 12 GTGTAAGAACTTCAGTTTCTG 0.408000 51 49 0 0 0.139131 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94879404 94879404 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:94879404G>T ENST00000289495.5 + 8 2383 c.2167G>T c.(2167-2169)Gaa>Taa p.E723* PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E745*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E723* NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 723 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ACAAAACATAGAAGAGAATAA 0.413000 HNSCC(28;0.073) 16 32 4.75885e-15 5.39225e-15 0.160694 1 0 PPIG 9360 broad.mit.edu 37 2 170462555 170462555 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:170462555A>G ENST00000260970.3 + 5 363 c.143A>G c.(142-144)aAg>aGg p.K48R PPIG_ENST00000462903.1_Missense_Mutation_p.K48R|PPIG_ENST00000409714.3_Missense_Mutation_p.K48R|PPIG_ENST00000448752.2_Missense_Mutation_p.K48R NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 48 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) ATAGGTGAAAAGGGGACCGGG 0.353000 3 137 0 0 0.150653 0 0 DNAH5 1767 broad.mit.edu 37 5 13752361 13752361 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:13752361A>G ENST00000265104.4 - 64 11014 c.10910T>C c.(10909-10911)cTg>cCg p.L3637P NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3637 AAA 5 (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) GCTGTCTTCCAGGTGGTTTCT 0.403000 Kartagener syndrome 69 147 0 0 0.139131 0 0 ROCK1 6093 broad.mit.edu 37 18 18535194 18535194 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:18535194G>C ENST00000399799.1 - 30 4465 c.3525C>G c.(3523-3525)caC>caG p.H1175Q NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 1175 Auto-inhibitory.|PH. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CAGGTCTAACGTGAAACAGTT 0.289000 14 23 0 0 0.160694 0 0 FOLH1 2346 broad.mit.edu 37 11 49197499 49197499 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:49197499C>A ENST00000340334.7 - 9 1254 c.886G>T c.(886-888)Ggc>Tgc p.G296C FOLH1_ENST00000256999.2_Missense_Mutation_p.G311C|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.G296C|FOLH1_ENST00000343844.4_Missense_Mutation_p.G3C|FOLH1_ENST00000356696.3_Missense_Mutation_p.G311C NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 311 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GGTGCTGAGCCACCCATTTTT 0.393000 62 88 8.52622e-23 1.05076e-22 0.139131 1 0 MBD5 55777 broad.mit.edu 37 2 149240960 149240960 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:149240960C>G ENST00000407073.1 + 10 3797 c.2800C>G c.(2800-2802)Cta>Gta p.L934V MBD5_ENST00000404807.1_Missense_Mutation_p.L934V NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 934 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACAGCATCTCCTAAACCAGAA 0.468000 116 219 0 0 0.139131 0 0 SHF 90525 broad.mit.edu 37 15 45460274 45460274 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:45460274C>G ENST00000290894.8 - 8 1637 c.1143G>C c.(1141-1143)gtG>gtC p.V381V SHF_ENST00000458022.2_Silent_p.V197V|SHF_ENST00000560540.1_3'UTR|SHF_ENST00000318390.6_Silent_p.V391V|SHF_ENST00000560734.1_3'UTR NM_138356.2 NP_612365.2 B3KTY1 B3KTY1_HUMAN Src homology 2 domain containing F 0 endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) TCTGGCCCAGCACATATTTGT 0.572000 OREG0023104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 44 0 0 0.204396 0 0 UNC5D 137970 broad.mit.edu 37 8 35588529 35588529 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:35588529G>A ENST00000287272.2 + 10 1494 c.e10-1 UNC5D_ENST00000449677.1_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000420357.1_Splice_Site|UNC5D_ENST00000404895.2_Splice_Site Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTCTGTTTTAGGGGTGAGCTT 0.423000 40 41 0 0 0.246493 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278431 7278431 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:7278431G>T ENST00000436587.2 + 3 989 c.766G>T c.(766-768)Gat>Tat p.D256Y C1GALT1_ENST00000223122.2_Missense_Mutation_p.D256Y|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D256Y NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 256 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) AGAAGCAGGAGATTCCAGAGA 0.368000 4 108 0.150653 0.152301 0.150653 1 0 AMPD1 270 broad.mit.edu 37 1 115231345 115231345 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:115231345G>T ENST00000369538.3 - 2 186 c.139C>A c.(139-141)Cgc>Agc p.R47S AMPD1_ENST00000353928.6_Missense_Mutation_p.R18S|AMPD1_ENST00000520113.2_Missense_Mutation_p.R51S NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 18 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) GCAAAGTTGCGCATTGCATCA 0.423000 68 138 4.66136e-34 6.28313e-34 0.139131 1 0 UGT2B4 7363 broad.mit.edu 37 4 70352383 70352383 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:70352383T>A ENST00000305107.6 - 4 1080 c.1034A>T c.(1033-1035)gAt>gTt p.D345V UGT2B4_ENST00000512583.1_Missense_Mutation_p.D345V|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D209V NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 345 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TCCTAAAGTATCTGGTTTATT 0.348000 102 40 0 0 0.139131 0 0 MAP4K5 11183 broad.mit.edu 37 14 50912808 50912808 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:50912808G>A ENST00000013125.4 - 17 1492 c.1174C>T c.(1174-1176)Cta>Tta p.L392L NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 392 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) TTAGGAGGTAGGGGAGGTGGT 0.279000 9 6 0 0 0.069234 0 0 NLRP5 126206 broad.mit.edu 37 19 56539566 56539566 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:56539566C>A ENST00000390649.3 + 7 1967 c.1967C>A c.(1966-1968)cCc>cAc p.P656H NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 656 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTGGGCTGTCCCGTTCCCCTG 0.597000 77 113 5.21738e-30 6.83329e-30 0.139131 1 0 SLC15A3 51296 broad.mit.edu 37 11 60718768 60718768 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:60718768G>A ENST00000227880.3 - 1 489 c.256C>T c.(256-258)Ctg>Ttg p.L86L NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 86 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 ACGGGCGCCAGCAGGTAGGAG 0.716000 4 4 0 0 0.150653 0 0 MGEA5 10724 broad.mit.edu 37 10 103558944 103558944 + Silent SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:103558944A>C ENST00000361464.3 - 9 1859 c.1464T>G c.(1462-1464)gtT>gtG p.V488V MGEA5_ENST00000357797.5_Silent_p.V435V|MGEA5_ENST00000370094.3_Silent_p.V488V|MGEA5_ENST00000439817.1_Silent_p.V435V|MGEA5_ENST00000482611.1_5'UTR NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 488 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TTTTCGCTTCAACAATTTCAC 0.393000 204 79 0 0 0.139131 0 0 RELN 5649 broad.mit.edu 37 7 103234159 103234159 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:103234159G>T ENST00000424685.2 - 27 4041 c.3882C>A c.(3880-3882)acC>acA p.T1294T RELN_ENST00000428762.1_Silent_p.T1294T|RELN_ENST00000343529.5_Silent_p.T1294T P78509 RELN_HUMAN reelin 1294 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGGTTTCAGGGTCAAATCTC 0.393000 83 153 1.55023e-36 2.14316e-36 0.139131 1 0 DNAH7 56171 broad.mit.edu 37 2 196659124 196659124 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:196659124T>A ENST00000312428.6 - 57 10754 c.10654A>T c.(10654-10656)Att>Ttt p.I3552F DNAH7_ENST00000409063.1_Missense_Mutation_p.I35F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3552 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TATGATCGAATGATATTAGCC 0.453000 71 95 0 0 0.139131 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107832 26107832 + Missense_Mutation SNP C C G rs148167379 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:26107832C>G ENST00000338379.4 - 1 532 c.490G>C c.(490-492)Gtt>Ctt p.V164L NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 164 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 CCGCTCCTAACAGTTTTAGGA 0.483000 155 229 0 0 0.139131 0 0 CNTN1 1272 broad.mit.edu 37 12 41422960 41422960 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:41422960T>A ENST00000551295.2 + 23 3036 c.2919T>A c.(2917-2919)gtT>gtA p.V973V CNTN1_ENST00000348761.2_Silent_p.V962V|CNTN1_ENST00000347616.1_Silent_p.V973V NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 973 Fibronectin type-III 4. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAGAATACGTTGTGGAGGTTC 0.448000 148 167 0 0 0.139131 0 0 C3P1 388503 broad.mit.edu 37 19 10169598 10169598 + RNA SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:10169598G>A ENST00000495140.1 + 0 1998 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 CTTGCCAACAGCTCCCAAGCC 0.562000 88 86 0 0 0.139131 0 0 NPHS1 4868 broad.mit.edu 37 19 36341873 36341873 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:36341873G>A ENST00000378910.5 - 4 515 c.516C>T c.(514-516)acC>acT p.T172T NPHS1_ENST00000353632.6_Silent_p.T172T NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 172 Ig-like C2-type 2. Missing (in NPHS1). cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCAGGAGAATGGTGATGTCAG 0.602000 21 28 0 0 0.249174 0 0 KRT73 319101 broad.mit.edu 37 12 53012037 53012037 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:53012037A>G ENST00000305748.3 - 1 306 c.272T>C c.(271-273)tTg>tCg p.L91S NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 91 Gly-rich.|Head. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CACGGACCCCAAGGCCACACT 0.627000 111 162 0 0 0.139131 0 0 CCDC85A 114800 broad.mit.edu 37 2 56602977 56602977 + Silent SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:56602977T>A ENST00000407595.2 + 5 1981 c.1479T>A c.(1477-1479)gcT>gcA p.A493A RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 493 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CATCAGGGGCTGATGGGAGTA 0.408000 49 57 0 0 0.139131 0 0 CLEC6A 93978 broad.mit.edu 37 12 8630046 8630046 + Nonsense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:8630046A>T ENST00000382073.3 + 6 802 c.616A>T c.(616-618)Aag>Tag p.K206* NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 206 defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) TGAGATGAATAAGATTTACCT 0.358000 47 77 0 0 0.124865 0 0 DNHD1 144132 broad.mit.edu 37 11 6592373 6592373 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:6592373G>A ENST00000254579.6 + 42 14195 c.13631G>A c.(13630-13632)gGt>gAt p.G4544D DNHD1_ENST00000527990.2_Missense_Mutation_p.G4544D NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4544 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GCGCCGGCCGGTCCGCAGCCG 0.706000 12 3 0 0 0.146539 0 0 GTPBP4 23560 broad.mit.edu 37 10 1034450 1034450 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:1034450G>T ENST00000360803.4 + 1 113 c.31G>T c.(31-33)Gtg>Ttg p.V11L GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 11 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GAAAATTACGGTGGTGCCGTC 0.657000 20 5 6.44725e-10 7.03435e-10 0.249174 1 0 LRP3 4037 broad.mit.edu 37 19 33696633 33696633 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:33696633C>T ENST00000253193.7 + 5 1159 c.957C>T c.(955-957)gaC>gaT p.D319D NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 319 CUB 2. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) AGCGCGGGGACCGCCTGCTGC 0.711000 6 11 0 0 0.217242 0 0 CUBN 8029 broad.mit.edu 37 10 17083215 17083215 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:17083215A>C ENST00000377833.4 - 27 3899 c.3834T>G c.(3832-3834)tgT>tgG p.C1278W NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1278 CUB 8. 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) CCACATTCTCACATGCTGGAA 0.343000 65 19 0 0 0.139131 0 0 TGM2 7052 broad.mit.edu 37 20 36775222 36775222 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:36775222C>A ENST00000361475.2 - 6 929 c.756G>T c.(754-756)atG>atT p.M252I TGM2_ENST00000536724.1_Missense_Mutation_p.M192I|TGM2_ENST00000536701.1_Missense_Mutation_p.M171I NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 252 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) CGATCCAGGACATGGGGCTGA 0.657000 75 62 1.3515e-34 1.83317e-34 0.139131 1 0 EDA2R 60401 broad.mit.edu 37 X 65824895 65824895 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:65824895C>T ENST00000374719.3 - 3 317 c.261G>A c.(259-261)ttG>ttA p.L87L EDA2R_ENST00000396050.1_Silent_p.L87L|EDA2R_ENST00000456230.2_Silent_p.L87L|EDA2R_ENST00000450752.1_Silent_p.L87L|EDA2R_ENST00000253392.5_Silent_p.L87L|EDA2R_ENST00000451436.2_Intron NM_021783.3 NP_068555.1 Q9HAV5 TNR27_HUMAN ectodysplasin A2 receptor 87 cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 CTCACCTGGGCAAACAGTCCC 0.488000 10 2 0 0 0.069234 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22930714 22930714 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrY:22930714G>A ENST00000288666.5 + 5 384 c.384G>A c.(382-384)aaG>aaA p.K128K NM_001039567.2 NP_001034656.1 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 128 translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 AAGTGAGGAAGATTACTGTGG 0.438000 49 8 0 0 0.139131 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90122132 90122132 + RNA SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:90122132C>A ENST00000483379.1 + 0 531 AATAGTTACCCTCCCACAGTG 0.517000 61 105 2.26907e-38 3.17081e-38 0.139131 1 0 RBP3 5949 broad.mit.edu 37 10 48388397 48388397 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:48388397G>T ENST00000224600.4 - 1 2594 c.2481C>A c.(2479-2481)ccC>ccA p.P827P NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 827 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CGGCGACCTGGGGCAAGGTCC 0.612000 14 8 7.93312e-07 8.41431e-07 0.119110 1 0 KCNT2 343450 broad.mit.edu 37 1 196285139 196285139 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:196285139C>G ENST00000367433.5 - 20 2395 c.2294G>C c.(2293-2295)aGg>aCg p.R765T KCNT2_ENST00000294725.8_Missense_Mutation_p.R789T|KCNT2_ENST00000367431.4_Missense_Mutation_p.R715T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 789 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CACTCCACACCTGAGTAAGTC 0.393000 29 7 0 0 0.153744 0 0 GPA33 10223 broad.mit.edu 37 1 167024302 167024302 + Silent SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:167024302A>T ENST00000367868.3 - 6 1081 c.738T>A c.(736-738)gtT>gtA p.V246V GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 246 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TGAGGGCTGCAACCACGCCCA 0.577000 91 16 0 0 0.139131 0 0 UBR2 23304 broad.mit.edu 37 6 42637959 42637959 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:42637959G>T ENST00000372899.1 + 35 4269 c.4011G>T c.(4009-4011)gcG>gcT p.A1337A UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Silent_p.A1337A NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1337 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTAGCTGCGCGTACACCATCC 0.408000 69 91 2.26907e-38 3.17081e-38 0.139131 1 0 ZNF835 90485 broad.mit.edu 37 19 57176253 57176253 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:57176253C>A ENST00000537055.2 - 2 545 c.314G>T c.(313-315)gGc>gTc p.G105V NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CTTCTTGGGGCCTCCACCTCT 0.632000 26 43 7.01153e-11 7.72822e-11 0.125774 1 0 FLG 2312 broad.mit.edu 37 1 152280766 152280766 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:152280766G>T ENST00000368799.1 - 3 6631 c.6596C>A c.(6595-6597)tCa>tAa p.S2199* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2199 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCATCTCCTGATTGTTCCTT 0.542000 Ichthyosis 298 419 1.63887e-181 2.54892e-181 0.139131 1 0 NOL8 55035 broad.mit.edu 37 9 95077690 95077690 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:95077690G>C ENST00000545558.1 - 7 1709 c.1217C>G c.(1216-1218)tCt>tGt p.S406C NOL8_ENST00000358855.4_Missense_Mutation_p.S338C|NOL8_ENST00000542053.1_Missense_Mutation_p.S338C|NOL8_ENST00000442668.2_Missense_Mutation_p.S406C|NOL8_ENST00000535387.1_Missense_Mutation_p.S406C Q76FK4 NOL8_HUMAN nucleolar protein 8 406 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TTTCTTCGTAGATTTTTCCAT 0.328000 17 17 0 0 0.146539 0 0 CYP4A22 284541 broad.mit.edu 37 1 47609432 47609432 + Splice_Site SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:47609432A>C ENST00000371891.3 + 6 666 c.e6-1 CYP4A22_ENST00000294337.3_Splice_Site|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACTCTCCCTCAGGAATTCTCA 0.512000 52 73 0 0 0.139131 0 0 PGM5P2 595135 broad.mit.edu 37 9 69127066 69127066 + RNA SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:69127066G>C ENST00000591037.1 - 0 492 NR_002836.2 TGATCTTCCTGATAATGCAGG 0.443000 25 12 0 0 0.173368 0 0 ADAM2 2515 broad.mit.edu 37 8 39613295 39613295 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:39613295G>T ENST00000265708.4 - 16 1852 c.1749C>A c.(1747-1749)gaC>gaA p.D583E ADAM2_ENST00000347580.4_Missense_Mutation_p.D564E|ADAM2_ENST00000379853.2_Missense_Mutation_p.D427E|ADAM2_ENST00000521880.1_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 583 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCTTTTGGCTGTCTGCATGAT 0.348000 39 61 1.90571e-15 2.16315e-15 0.203993 1 0 PDCD10 11235 broad.mit.edu 37 3 167437849 167437849 + Splice_Site SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:167437849C>T ENST00000392750.2 - 3 514 c.e3+1 PDCD10_ENST00000492396.1_Intron|PDCD10_ENST00000461494.1_Splice_Site|PDCD10_ENST00000473645.2_Splice_Site|PDCD10_ENST00000487947.2_Splice_Site|PDCD10_ENST00000470131.1_Splice_Site|PDCD10_ENST00000497056.2_Splice_Site|PDCD10_ENST00000471885.1_Splice_Site NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 ACCCAACTCACCTCATTAAAC 0.378000 57 208 0 0 0.139131 0 0 GFRAL 389400 broad.mit.edu 37 6 55216213 55216213 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:55216213T>A ENST00000340465.2 + 5 619 c.533T>A c.(532-534)aTa>aAa p.I178K NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 178 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TATCAAAATATACCTTTTAAC 0.428000 164 222 0 0 0.139131 0 0 CREB5 9586 broad.mit.edu 37 7 28534558 28534558 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:28534558G>A ENST00000357727.2 + 3 500 c.110G>A c.(109-111)aGg>aAg p.R37K CREB5_ENST00000409603.1_Missense_Mutation_p.R4K|CREB5_ENST00000396299.2_Missense_Mutation_p.R4K|CREB5_ENST00000396300.2_Missense_Mutation_p.R30K NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 37 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 ATGATTCATAGGCACAAACAT 0.388000 77 128 0 0 0.139131 0 0 PAGE4 9506 broad.mit.edu 37 X 49597193 49597193 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:49597193G>T ENST00000218068.6 + 4 311 c.232G>T c.(232-234)Ggc>Tgc p.G78C PAGE4_ENST00000376141.1_Missense_Mutation_p.G78C NM_007003.2 NP_008934.1 O60829 GAGC1_HUMAN P antigen family, member 4 (prostate associated) 78 Ovarian(276;0.236) GCGTGGAGATGGCTCTGATGT 0.388000 57 12 4.13886e-29 5.38801e-29 0.139131 1 0 MYH1 4619 broad.mit.edu 37 17 10408506 10408506 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:10408506C>A ENST00000226207.5 - 21 2503 c.2409G>T c.(2407-2409)gtG>gtT p.V803V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 803 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTGGTACTCCACTCTTGCCA 0.433000 44 114 1.23713e-20 1.47407e-20 0.139131 1 0 MYH6 4624 broad.mit.edu 37 14 23866242 23866242 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:23866242C>T ENST00000405093.3 - 18 2168 c.2098G>A c.(2098-2100)Gtg>Atg p.V700M MYH6_ENST00000356287.3_Missense_Mutation_p.V700M NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 700 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCCTCCAGCACGCCATTGCAG 0.617000 43 13 0 0 0.257332 0 0 DDX56 54606 broad.mit.edu 37 7 44608736 44608736 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:44608736C>A ENST00000258772.5 - 10 1392 c.1286G>T c.(1285-1287)cGc>cTc p.R429L DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R389L NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 429 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 CACCCTGCAGCGATAGCGGAA 0.627000 48 62 1.48341e-19 1.7546e-19 0.139131 1 0 CTDSP1 58190 broad.mit.edu 37 2 219267845 219267845 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:219267845G>A ENST00000273062.2 + 5 802 c.466G>A c.(466-468)Gcc>Acc p.A156T CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.A155T NM_021198.2|NM_182642.2 NP_067021.1|NP_872580.1 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 156 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 8 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTAGCCTCGCCAAGGTGAG 0.642000 51 73 0 0 0.139131 0 0 BRI3 25798 broad.mit.edu 37 7 97920509 97920509 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:97920509C>T ENST00000297290.3 + 3 453 c.332C>T c.(331-333)gCc>gTc p.A111V BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Intron NM_015379.4 NP_056194.1 O95415 BRI3_HUMAN brain protein I3 111 integral to membrane haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1) 4 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) TGCTGTTTTGCCTTGAGGAAG 0.542000 98 115 0 0 0.139131 0 0 MIR1324 100302212 broad.mit.edu 37 3 75679914 75679914 + RNA SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:75679914C>A ENST00000408868.1 + 0 1 NR_031714.1 GGAGAACATTCCTGAAGAGGT 0.577000 10 68 1.49906e-05 1.57195e-05 0.119110 1 0 SLC20A2 6575 broad.mit.edu 37 8 42294989 42294989 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:42294989C>A ENST00000342228.3 - 8 1410 c.1041G>T c.(1039-1041)gtG>gtT p.V347V SLC20A2_ENST00000520262.1_Silent_p.V347V|SLC20A2_ENST00000520179.1_Silent_p.V347V NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 347 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) AGTCTTTGTGCACGGTGTGGT 0.592000 87 120 8.55712e-49 1.26692e-48 0.139131 1 0 MEOX1 4222 broad.mit.edu 37 17 41738516 41738516 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:41738516G>A ENST00000549132.1 - 1 415 c.299C>T c.(298-300)gCc>gTc p.A100V MEOX1_ENST00000318579.4_Silent_p.G129G|MEOX1_ENST00000393661.2_Silent_p.G14G|MEOX1_ENST00000329168.3_Silent_p.G129G P50221 MEOX1_HUMAN mesenchyme homeobox 1 14 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CATCGCCTGGGCCTCCTGTGG 0.627000 150 199 0 0 0.139131 0 0 OR11G2 390439 broad.mit.edu 37 14 20666109 20666109 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:20666109C>A ENST00000357366.3 + 1 615 c.615C>A c.(613-615)tcC>tcA p.S205S NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CCCAAATGTCCTTCTGTGGAT 0.443000 59 19 8.28887e-21 9.89464e-21 0.139131 1 0 RNF44 22838 broad.mit.edu 37 5 175956289 175956289 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:175956289C>A ENST00000274811.4 - 10 1760 c.1236_splice c.e10+1 p.K412_splice RNF44_ENST00000537487.1_Splice_Site_p.K331_splice NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 412 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGTGTTACCTTCAACCACT 0.582000 43 17 1.32136e-16 1.52392e-16 0.268233 1 0 EXOC2 55770 broad.mit.edu 37 6 617752 617752 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:617752C>G ENST00000230449.4 - 6 755 c.620G>C c.(619-621)gGc>gCc p.G207A EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 207 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) ACTGAGACCGCCTTTCACATA 0.517000 65 63 0 0 0.139131 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110474049 110474049 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110474049T>A ENST00000378402.5 + 48 7399 c.7295T>A c.(7294-7296)aTa>aAa p.I2432K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2432 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGAGAAGAAATAGGAAGTGAC 0.393000 HNSCC(38;0.096) 13 16 0 0 0.093190 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237516 33237516 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:33237516G>A ENST00000401073.2 + 6 2806 c.2736G>A c.(2734-2736)ctG>ctA p.L912L KIAA1522_ENST00000373480.1_Silent_p.L853L|KIAA1522_ENST00000373481.3_Silent_p.L864L|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 853 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGAAACCACTGCGAAGGGCCC 0.716000 12 17 0 0 0.119110 0 0 PDE10A 10846 broad.mit.edu 37 6 165832247 165832247 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:165832247C>A ENST00000366882.1 - 12 998 c.844G>T c.(844-846)Gtg>Ttg p.V282L PDE10A_ENST00000539869.2_Missense_Mutation_p.V292L|PDE10A_ENST00000354448.4_Missense_Mutation_p.V282L Q9Y233 PDE10_HUMAN phosphodiesterase 10A 282 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCGGCATTCACCAGGTTTTTT 0.353000 25 45 4.59853e-10 5.03426e-10 0.108266 1 0 OR5M8 219484 broad.mit.edu 37 11 56258412 56258412 + Silent SNP C C A rs147351186 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:56258412C>A ENST00000327216.2 - 1 459 c.435G>T c.(433-435)acG>acT p.T145T NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CATAAGGCACCGTGATGAGGA 0.517000 43 83 6.5261e-18 7.62164e-18 0.268233 1 0 DENND4A 10260 broad.mit.edu 37 15 65994823 65994823 + Silent SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:65994823T>G ENST00000443035.3 - 17 2465 c.2250A>C c.(2248-2250)gcA>gcC p.A750A DENND4A_ENST00000431932.2_Silent_p.A750A NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 AGTACCTCTTTGCAATTTTAT 0.373000 6 4 0 0 0.217242 0 0 LAMA1 284217 broad.mit.edu 37 18 7016587 7016587 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:7016587C>A ENST00000389658.3 - 21 2985 c.2892G>T c.(2890-2892)acG>acT p.T964T NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 964 Laminin EGF-like 10. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCTTCATCCGTGCAGCCAT 0.592000 27 19 1.74807e-11 1.94664e-11 0.153744 1 0 RUNDC3B 154661 broad.mit.edu 37 7 87329865 87329865 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:87329865G>A ENST00000338056.3 + 4 829 c.418G>A c.(418-420)Gct>Act p.A140T ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A123T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A123T NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 140 RUN. breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) TTCTTCTAGAGCTAAGGTAAG 0.383000 72 142 0 0 0.139131 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50421637 50421637 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:50421637G>A ENST00000435965.1 - 6 815 c.642C>T c.(640-642)atC>atT p.I214I CACNA2D2_ENST00000479441.1_Silent_p.I214I|CACNA2D2_ENST00000429770.1_Silent_p.I214I|CACNA2D2_ENST00000424201.2_Silent_p.I214I|CACNA2D2_ENST00000423994.2_Silent_p.I214I|CACNA2D2_ENST00000395083.1_Silent_p.I214I|CACNA2D2_ENST00000360963.3_Silent_p.I145I|CACNA2D2_ENST00000266039.3_Silent_p.I214I Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 214 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) AGCCTTTGTAGATGTCCGTAG 0.567000 219 70 0 0 0.139131 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147209 26147209 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:26147209G>T ENST00000331351.5 + 2 1403 c.1011G>T c.(1009-1011)gcG>gcT p.A337A HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 337 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GGATCTATGCGCTGCATCTGG 0.557000 138 44 1.36653e-54 2.06095e-54 0.139131 1 0 CTNNA3 29119 broad.mit.edu 37 10 69281617 69281617 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:69281617C>T ENST00000433211.1 - 5 736 c.562G>A c.(562-564)Gcc>Acc p.A188T CTNNA3_ENST00000545309.1_Missense_Mutation_p.A188T|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A188T NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 188 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CGTTTGAAGGCTAAATAATCC 0.478000 43 23 0 0 0.139131 0 0 C2orf88 84281 broad.mit.edu 37 2 191064816 191064816 + Nonsense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:191064816G>A ENST00000340623.4 + 2 641 c.230G>A c.(229-231)tGg>tAg p.W77* C2orf88_ENST00000409870.1_Nonsense_Mutation_p.W77*|C2orf88_ENST00000443551.2_Nonsense_Mutation_p.W77*|C2orf88_ENST00000396974.2_Nonsense_Mutation_p.W77* NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2 NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2 Q9BSF0 CB088_HUMAN chromosome 2 open reading frame 88 77 kidney(1)|large_intestine(1)|lung(1) 3 TTGCAGCAATGGGCATGCAAT 0.473000 130 204 0 0 0.139131 0 0 OR5J2 282775 broad.mit.edu 37 11 55944604 55944604 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:55944604C>T ENST00000312298.1 + 1 511 c.511C>T c.(511-513)Cta>Tta p.L171L NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CTTTTGTAGGCTAAATGCTGT 0.438000 73 114 0 0 0.139131 0 0 ESRRG 2104 broad.mit.edu 37 1 216850746 216850746 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:216850746G>A ENST00000391890.3 - 4 592 c.75C>T c.(73-75)tcC>tcT p.S25S ESRRG_ENST00000360012.3_Silent_p.S25S|ESRRG_ENST00000361525.3_Silent_p.S25S|ESRRG_ENST00000366937.1_Silent_p.S53S|ESRRG_ENST00000493748.1_Silent_p.S25S|ESRRG_ENST00000361395.2_Silent_p.S25S|ESRRG_ENST00000493603.1_Silent_p.S25S|ESRRG_ENST00000463665.1_Silent_p.S25S|ESRRG_ENST00000487276.1_Silent_p.S25S|ESRRG_ENST00000408911.3_Silent_p.S48S|ESRRG_ENST00000366938.2_Silent_p.S25S|ESRRG_ENST00000359162.2_Silent_p.S25S|ESRRG_ENST00000366940.2_Silent_p.S25S NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 48 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGTCCGTCAGGGAGGCTGGGC 0.537000 81 21 0 0 0.139131 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060934 35060934 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:35060934G>A ENST00000373913.3 + 3 1294 c.814G>A c.(814-816)Gca>Aca p.A272T DLGAP4_ENST00000339266.5_Missense_Mutation_p.A272T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A272T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A272T Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 272 Poly-Pro. cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACCCCCGCCCGCACCCCCAGC 0.627000 10 19 0 0 0.069234 0 0 OSBPL8 114882 broad.mit.edu 37 12 76791585 76791585 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:76791585C>A ENST00000261183.3 - 8 1040 c.561G>T c.(559-561)tgG>tgT p.W187C OSBPL8_ENST00000393249.2_Missense_Mutation_p.W145C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.W145C NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 187 PH. lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 CTGTTCCTACCCACTGACCAT 0.398000 48 71 1.00776e-21 1.21419e-21 0.139131 1 0 LRRN1 57633 broad.mit.edu 37 3 3886403 3886403 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:3886403C>A ENST00000319331.3 + 2 839 c.78C>A c.(76-78)tcC>tcA p.S26S SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 26 LRRNT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCGAGTCTTCCATACAGAATA 0.463000 59 19 4.10029e-35 5.59681e-35 0.139131 1 0 MYH10 4628 broad.mit.edu 37 17 8526248 8526248 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:8526248T>C ENST00000360416.3 - 2 455 c.317A>G c.(316-318)aAg>aGg p.K106R MYH10_ENST00000269243.4_Missense_Mutation_p.K106R|MYH10_ENST00000396239.1_Missense_Mutation_p.K106R|MYH10_ENST00000379980.4_Missense_Mutation_p.K106R NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 106 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GTAGCGATCCTTCAGATTATG 0.343000 93 112 0 0 0.139131 0 0 CHRND 1144 broad.mit.edu 37 2 233394727 233394727 + Missense_Mutation SNP G G T rs146416320 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:233394727G>T ENST00000258385.3 + 7 730 c.698G>T c.(697-699)cGc>cTc p.R233L CHRND_ENST00000536614.1_Silent_p.P196P|CHRND_ENST00000543200.1_Missense_Mutation_p.R218L|CHRND_ENST00000457943.2_Intron NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 233 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.R233H(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) AGCCCCAGCCGCCAGGACATC 0.617000 56 103 4.32865e-36 5.97151e-36 0.139131 1 0 USP18 11274 broad.mit.edu 37 22 18643000 18643000 + Missense_Mutation SNP C C A rs138144879 byFrequency TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:18643000C>A ENST00000215794.7 + 3 649 c.219C>A c.(217-219)ttC>ttA p.F73L NM_017414.3 NP_059110.2 Q9UMW8 UBP18_HUMAN ubiquitin specific peptidase 18 73 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 TTCAGGTGTTCGTAATGAATG 0.418000 260 31 2.59669e-106 4.00969e-106 0.139131 1 0 GRIA3 2892 broad.mit.edu 37 X 122598930 122598930 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:122598930A>T ENST00000264357.5 + 13 2583 c.2291A>T c.(2290-2292)tAt>tTt p.Y764F GRIA3_ENST00000371251.1_Missense_Mutation_p.Y764F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y764F|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y764F NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 764 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TCCAAAGGCTATGGTGTGGCA 0.428000 91 20 0 0 0.139131 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131797883 131797883 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:131797883A>T ENST00000392953.3 + 8 1493 c.974A>T c.(973-975)cAg>cTg p.Q325L ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q254L|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q325L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q325L NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 325 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGCGAGGAGCAGCTGCGTACC 0.667000 14 24 0 0 0.119110 0 0 OPN3 23596 broad.mit.edu 37 1 241761198 241761198 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:241761198C>T ENST00000366554.2 - 3 901 c.795G>A c.(793-795)ctG>ctA p.L265L OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.L186L NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 265 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TCCAACAGACCAGGAAGGTGA 0.378000 101 23 0 0 0.139131 0 0 GLG1 2734 broad.mit.edu 37 16 74519693 74519693 + Splice_Site SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:74519693C>T ENST00000422840.2 - 9 1571 c.e9+1 GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AGATAACTTACATTGGGTCTC 0.408000 68 23 0 0 0.139131 0 0 MN1 4330 broad.mit.edu 37 22 28194072 28194072 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:28194072G>A ENST00000302326.4 - 1 3414 c.2460C>T c.(2458-2460)ttC>ttT p.F820F NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 820 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AGCTCTGGCCGAACAGGTTGT 0.632000 T ETV6 """AML, meningioma""" 4 178 0 0 0.150653 0 0 DNAH5 1767 broad.mit.edu 37 5 13894843 13894843 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:13894843C>A ENST00000265104.4 - 16 2451 c.2347G>T c.(2347-2349)Gaa>Taa p.E783* CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 783 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) TGGAGAGCTTCATCCACTTTG 0.423000 Kartagener syndrome 98 209 9.47431e-33 1.26389e-32 0.139131 1 0 GSTA3 2940 broad.mit.edu 37 6 52762651 52762651 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:52762651C>T ENST00000211122.3 - 6 583 c.518G>A c.(517-519)aGc>aAc p.S173N GSTA3_ENST00000370968.1_Missense_Mutation_p.S123N NM_000847.4 NP_000838.3 Q16772 GSTA3_HUMAN glutathione S-transferase alpha 3 173 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2) 10 Lung NSC(77;0.0912) Glutathione(DB00143) GGAGATAAGGCTGGAGTCAAG 0.522000 77 128 0 0 0.139131 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709976 128709976 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:128709976C>G ENST00000392665.2 - 2 307 c.163G>C c.(163-165)Gac>Cac p.D55H KCNJ1_ENST00000324036.3_Missense_Mutation_p.D55H|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D55H|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D55H|KCNJ1_ENST00000392664.2_Missense_Mutation_p.D74H NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 74 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CACTTGAGGTCAAGTACCGTT 0.433000 103 49 0 0 0.139131 0 0 MAP6 4135 broad.mit.edu 37 11 75319187 75319187 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:75319187G>C ENST00000434603.2 - 2 1150 c.1086C>G c.(1084-1086)agC>agG p.S362R MAP6_ENST00000526740.1_Missense_Mutation_p.S33R|MAP6_ENST00000304771.3_Missense_Mutation_p.S362R NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 362 Calmodulin-binding (By similarity). Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) CGCTGTAGAGGCTGCGTATTC 0.512000 56 25 0 0 0.139131 0 0 ATP10A 57194 broad.mit.edu 37 15 26026341 26026341 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:26026341C>A ENST00000356865.6 - 2 590 c.479G>T c.(478-480)tGg>tTg p.W160L NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 160 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GATTTCTTTCCAGAATCGGTT 0.498000 25 26 4.4004e-07 4.68266e-07 0.083992 1 0 FOXP1 27086 broad.mit.edu 37 3 71247394 71247394 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:71247394C>A ENST00000318789.4 - 6 664 c.139G>T c.(139-141)Ggg>Tgg p.G47W FOXP1_ENST00000498215.1_Missense_Mutation_p.G47W|FOXP1_ENST00000493089.1_Missense_Mutation_p.G47W|FOXP1_ENST00000484350.1_Missense_Mutation_p.G47W|FOXP1_ENST00000468577.1_Missense_Mutation_p.G47W|FOXP1_ENST00000318779.3_Missense_Mutation_p.G47W|FOXP1_ENST00000475937.1_Missense_Mutation_p.G47W NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 47 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TCAGCTGCCCCGATGTCCACG 0.627000 T PAX5 ALL 85 38 5.00163e-47 7.38826e-47 0.139131 1 0 COL22A1 169044 broad.mit.edu 37 8 139642958 139642958 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:139642958G>A ENST00000303045.6 - 50 4089 c.3643C>T c.(3643-3645)Cca>Tca p.P1215S COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1215 Collagen-like 11.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGGATTCCTGGTGGTCCAGCA 0.478000 HNSCC(7;0.00092) 150 202 0 0 0.139131 0 0 ABTB2 25841 broad.mit.edu 37 11 34219030 34219030 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:34219030C>T ENST00000435224.2 - 3 1510 c.1086G>A c.(1084-1086)ccG>ccA p.P362P ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P176P NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 176 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GGCTGGCACCCGGGCACAGGG 0.672000 23 11 0 0 0.234183 0 0 MUC16 94025 broad.mit.edu 37 19 9026207 9026207 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:9026207C>A ENST00000397910.4 - 14 36982 c.36779G>T c.(36778-36780)aGt>aTt p.S12260I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12262 SEA 2. 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 CTGCAGGACACTCTCCATGGT 0.552000 143 192 6.37441e-58 9.68133e-58 0.139131 1 0 GPR112 139378 broad.mit.edu 37 X 135439903 135439903 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:135439903A>T ENST00000394143.1 + 10 7259 c.6968A>T c.(6967-6969)tAt>tTt p.Y2323F GPR112_ENST00000370652.1_Missense_Mutation_p.Y2323F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.Y2118F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2118F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2323 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACAATTTCCTATGTACCATAC 0.368000 147 35 0 0 0.139131 0 0 ABCC9 10060 broad.mit.edu 37 12 22028605 22028605 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:22028605T>C ENST00000261200.4 - 15 2074 c.2075A>G c.(2074-2076)gAt>gGt p.D692G ABCC9_ENST00000345162.2_Missense_Mutation_p.D656G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.D692G NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 692 ABC transporter 1. 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) AATTCGAATATCTATATTGGA 0.308000 42 60 0 0 0.131918 0 0 VPS13B 157680 broad.mit.edu 37 8 100866327 100866327 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:100866327G>A ENST00000358544.2 + 56 10896 c.10785G>A c.(10783-10785)ttG>ttA p.L3595L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3570L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3595 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CAGTAAATTTGCTCGTCAGCA 0.542000 39 46 0 0 0.139131 0 0 ASIC5 51802 broad.mit.edu 37 4 156764923 156764923 + Missense_Mutation SNP G G C rs145138118 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:156764923G>C ENST00000537611.2 - 5 817 c.771C>G c.(769-771)atC>atG p.I257M NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 257 integral to membrane|plasma membrane TTGGTGAATGGATAACAAAGA 0.443000 43 19 0 0 0.268233 0 0 COL11A1 1301 broad.mit.edu 37 1 103496734 103496734 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:103496734T>C ENST00000358392.2 - 5 1035 c.718A>G c.(718-720)Agt>Ggt p.S240G COL11A1_ENST00000512756.1_Missense_Mutation_p.S240G|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240G|COL11A1_ENST00000370096.3_Missense_Mutation_p.S240G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 240 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGTCTGGACTATAATGCTCA 0.448000 22 38 0 0 0.234183 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61977990 61977990 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:61977990C>T ENST00000244930.4 + 2 225 c.161C>T c.(160-162)gCc>gTc p.A54V NM_002407.2 NP_002398.1 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 54 extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 GACAGTGATGCCGCTGCAGAG 0.428000 5 250 0 0 0.184627 0 0 GAD2 2572 broad.mit.edu 37 10 26512888 26512888 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:26512888C>A ENST00000376261.3 + 5 1096 c.593C>A c.(592-594)tCa>tAa p.S198* GAD2_ENST00000376248.1_Nonsense_Mutation_p.S84*|GAD2_ENST00000259271.3_Nonsense_Mutation_p.S198* NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 198 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TGGCTGACATCAACAGCAAAT 0.343000 40 13 6.97489e-18 8.13108e-18 0.214465 1 0 ZNF761 388561 broad.mit.edu 37 19 53959133 53959133 + RNA SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53959133A>G ENST00000454407.1 + 0 1825 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATGCCATCGTAGACGTCATAC 0.388000 76 104 0 0 0.139131 0 0 APOB 338 broad.mit.edu 37 2 21242655 21242655 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:21242655G>A ENST00000233242.1 - 19 3066 c.2939C>T c.(2938-2940)gCt>gTt p.A980V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 980 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) GTTGGAGTAAGCGCCTGAGGT 0.552000 32 33 0 0 0.134883 0 0 RP1 6101 broad.mit.edu 37 8 55540694 55540694 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:55540694G>T ENST00000220676.1 + 4 4400 c.4252G>T c.(4252-4254)Gat>Tat p.D1418Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1418 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TAGTTCTCTAGATGATTTTGA 0.358000 50 93 1.61004e-24 2.02664e-24 0.139131 1 0 ATG2B 55102 broad.mit.edu 37 14 96777573 96777573 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:96777573T>A ENST00000359933.4 - 28 4935 c.4042A>T c.(4042-4044)Acg>Tcg p.T1348S ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1348 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCTGAGCACGTTCTGATATGG 0.448000 113 33 0 0 0.139131 0 0 STAB2 55576 broad.mit.edu 37 12 104054129 104054129 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:104054129A>T ENST00000388887.2 + 16 1959 c.1755A>T c.(1753-1755)gaA>gaT p.E585D NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 585 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGCTTCTGGAACTCGTCAGAT 0.438000 146 219 0 0 0.139131 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83371245 83371245 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:83371245C>T ENST00000262752.2 - 12 1007 c.1000G>A c.(1000-1002)Gac>Aac p.D334N RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D334N NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 334 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ACATCCCAGTCAATATTTGCA 0.249000 28 2 0 0 0.153744 0 0 ZNF407 55628 broad.mit.edu 37 18 72344239 72344239 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:72344239G>T ENST00000299687.5 + 1 1264 c.1264G>T c.(1264-1266)Gtg>Ttg p.V422L ZNF407_ENST00000577538.1_Missense_Mutation_p.V422L|ZNF407_ENST00000582337.1_Missense_Mutation_p.V422L|ZNF407_ENST00000309902.6_Missense_Mutation_p.V422L NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) AAATATTCTCGTGTTGGGTAA 0.433000 51 63 2.74695e-27 3.5404e-27 0.139131 1 0 CD247 919 broad.mit.edu 37 1 167408592 167408592 + Nonsense_Mutation SNP G G A rs74315290 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:167408592G>A ENST00000392122.3 - 3 352 c.208C>T c.(208-210)Cag>Tag p.Q70* CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Nonsense_Mutation_p.Q70* NM_000734.3|NM_198053.2 NP_000725.1|NP_932170.1 P20963 CD3Z_HUMAN CD247 molecule 70 ITAM 1. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(543;0.236) TTATAGAGCTGGTTCTGGCCC 0.637000 60 120 0 0 0.139131 0 0 CAPN10 11132 broad.mit.edu 37 2 241533429 241533429 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:241533429G>T ENST00000391984.2 + 5 991 c.795G>T c.(793-795)tgG>tgT p.W265C CAPN10_ENST00000391982.2_Missense_Mutation_p.W265C|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.W265C|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.W265C NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 265 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGAACCCCTGGGGCCGGCGGT 0.692000 86 106 1.42954e-44 2.07846e-44 0.139131 1 0 PDZD2 23037 broad.mit.edu 37 5 31983279 31983279 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:31983279C>T ENST00000438447.1 + 3 883 c.495C>T c.(493-495)tgC>tgT p.C165C PDZD2_ENST00000282493.3_Silent_p.C165C O15018 PDZD2_HUMAN PDZ domain containing 2 165 PDZ 1. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGAGCAGTGCTGGAATGGCG 0.527000 49 151 0 0 0.139131 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644453 18644453 + Silent SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:18644453T>G ENST00000433979.1 + 19 2747 c.2631T>G c.(2629-2631)ccT>ccG p.P877P PIK3C2G_ENST00000266497.5_Silent_p.P877P|PIK3C2G_ENST00000538779.1_Silent_p.P918P NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 877 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GTCATCTTCCTCTGAACCCTG 0.333000 57 85 0 0 0.139131 0 0 CUX1 1523 broad.mit.edu 37 7 101837129 101837129 + Nonsense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:101837129A>T ENST00000360264.3 + 13 1137 c.1117A>T c.(1117-1119)Aag>Tag p.K373* CUX1_ENST00000556210.1_Nonsense_Mutation_p.K362*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.K357*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.K334*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.K371*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.K327*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.K362*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Nonsense_Mutation_p.K373* NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 362 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CAGCATTCTGAAGTCCATGGA 0.527000 24 27 0 0 0.083992 0 0 NKD1 85407 broad.mit.edu 37 16 50667328 50667328 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:50667328A>G ENST00000268459.3 + 10 1273 c.1049A>G c.(1048-1050)aAg>aGg p.K350R NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 350 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AGGTCCCCCAAGGCCCAGGGC 0.662000 53 10 0 0 0.139131 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136777 80136777 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:80136777G>T ENST00000466387.1 + 11 1634 c.910G>T c.(910-912)Gag>Tag p.E304* CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E338*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E304* P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 304 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCCGTCCCTGGAGGAGAGGCT 0.592000 60 107 5.41189e-41 7.69559e-41 0.139131 1 0 NPAS3 64067 broad.mit.edu 37 14 34247672 34247672 + Splice_Site SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:34247672G>C ENST00000346562.2 + 8 1025 c.950_splice c.e8-1 p.R317_splice NPAS3_ENST00000357798.5_Splice_Site_p.R336_splice|NPAS3_ENST00000356141.4_Splice_Site_p.R349_splice|NPAS3_ENST00000551492.1_Splice_Site_p.R354_splice|NPAS3_ENST00000548645.1_Splice_Site_p.R319_splice NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CTCTTTGTAGGATTAGTGATT 0.403000 63 19 0 0 0.139131 0 0 WNK3 65267 broad.mit.edu 37 X 54359590 54359590 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:54359590C>A ENST00000354646.2 - 2 955 c.517G>T c.(517-519)Gtt>Ttt p.V173F WNK3_ENST00000375169.3_Missense_Mutation_p.V173F|WNK3_ENST00000375159.2_Missense_Mutation_p.V173F NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 173 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CACCAAGCAACCTCAACCCAT 0.393000 83 22 3.16549e-35 4.32996e-35 0.139131 1 0 LRP1B 53353 broad.mit.edu 37 2 141460022 141460022 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:141460022G>A ENST00000389484.3 - 38 7095 c.6124C>T c.(6124-6126)Ccg>Tcg p.P2042S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2042 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCCATTCGGCCATGCTATT 0.433000 TSP Lung(27;0.18) 49 111 0 0 0.139131 0 0 FAT2 2196 broad.mit.edu 37 5 150924598 150924598 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:150924598C>T ENST00000261800.5 - 9 6102 c.6090G>A c.(6088-6090)cgG>cgA p.R2030R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2030 Cadherin 17. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTGCTGCTCCCGGTCAAACG 0.512000 96 29 0 0 0.139131 0 0 PAIP2B 400961 broad.mit.edu 37 2 71429712 71429712 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:71429712C>A ENST00000244221.8 - 2 174 c.8G>T c.(7-9)gGa>gTa p.G3V NM_020459.1 NP_065192.1 Q9ULR5 PAI2B_HUMAN poly(A) binding protein interacting protein 2B 3 negative regulation of translational initiation protein binding|translation repressor activity, nucleic acid binding large_intestine(1)|lung(1) 2 CATATTGGATCCATTCATTAT 0.378000 78 87 1.25089e-41 1.78265e-41 0.139131 1 0 WEE2 494551 broad.mit.edu 37 7 141424933 141424933 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:141424933C>A ENST00000397541.2 + 9 1735 c.1329C>A c.(1327-1329)atC>atA p.I443I WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 443 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GGCACCATATCCGCAAGGGTA 0.493000 49 69 8.00217e-19 9.41346e-19 0.139131 1 0 DHRS7C 201140 broad.mit.edu 37 17 9683345 9683345 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:9683345G>T ENST00000330255.4 - 3 290 c.278C>A c.(277-279)aCc>aAc p.T93N DHRS7C_ENST00000571134.1_Missense_Mutation_p.T92N NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 93 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CAGCTTTGGGGTGAATGTCTG 0.507000 16 31 6.94344e-10 7.56298e-10 0.175082 1 0 MUC16 94025 broad.mit.edu 37 19 9072003 9072003 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:9072003G>T ENST00000397910.4 - 3 15646 c.15443C>A c.(15442-15444)cCc>cAc p.P5148H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5150 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 TGTGGCTTTGGGTGTCTCTGA 0.458000 132 167 5.80972e-51 8.68104e-51 0.139131 1 0 SLIT2 9353 broad.mit.edu 37 4 20543121 20543121 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:20543121G>T ENST00000504154.1 + 20 2274 c.2022G>T c.(2020-2022)tgG>tgT p.W674C SLIT2_ENST00000503837.1_Missense_Mutation_p.W670C|SLIT2_ENST00000503823.1_Missense_Mutation_p.W666C|SLIT2_ENST00000273739.5_Missense_Mutation_p.W678C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 674 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACCTGGCTTGGTTGGGAGAGT 0.458000 46 11 1.10885e-35 1.52644e-35 0.139131 1 0 DNAH5 1767 broad.mit.edu 37 5 13841950 13841950 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:13841950C>G ENST00000265104.4 - 33 5439 c.5335G>C c.(5335-5337)Gtc>Ctc p.V1779L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1779 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) TCTGCCATGACAGGTTTATCC 0.383000 Kartagener syndrome 49 183 0 0 0.139131 0 0 ZNF169 169841 broad.mit.edu 37 9 97055405 97055405 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:97055405G>T ENST00000481550.2 + 3 365 c.310G>T c.(310-312)Ggt>Tgt p.G104C ZNF169_ENST00000375354.4_Intron|ZNF169_ENST00000480716.1_Intron|ZNF169_ENST00000395395.2_Intron|ZNF169_ENST00000340911.4_Intron Q14929 ZN169_HUMAN zinc finger protein 169 0 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GAGCTCAGCAGGTAAGGAAGG 0.572000 9 7 1.12685e-05 1.18548e-05 0.047766 1 0 TEX2 55852 broad.mit.edu 37 17 62291206 62291206 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:62291206T>C ENST00000258991.3 - 2 456 c.372A>G c.(370-372)gcA>gcG p.A124A TEX2_ENST00000583097.1_Silent_p.A124A|TEX2_ENST00000584379.1_Silent_p.A124A Q8IWB9 TEX2_HUMAN testis expressed 2 124 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TTAATACTTGTGCTGCTGGAA 0.562000 107 118 0 0 0.139131 0 0 COL11A1 1301 broad.mit.edu 37 1 103548502 103548502 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:103548502G>A ENST00000358392.2 - 2 450 c.133C>T c.(133-135)Cta>Tta p.L45L COL11A1_ENST00000512756.1_Silent_p.L45L|COL11A1_ENST00000353414.4_Silent_p.L45L|COL11A1_ENST00000370096.3_Silent_p.L45L NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 45 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGAAAATCTAGTGCTTTTAGT 0.333000 51 87 0 0 0.139131 0 0 DMD 1756 broad.mit.edu 37 X 31893375 31893375 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:31893375C>G ENST00000357033.4 - 48 7234 c.7028G>C c.(7027-7029)tGg>tCg p.W2343S DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.W2339S|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2343 Missing (in DMD). 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) AGGAGATAACCACAGCAGCAG 0.368000 22 7 0 0 0.264190 0 0 TBR1 10716 broad.mit.edu 37 2 162273105 162273105 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:162273105C>G ENST00000389554.3 + 1 501 c.184C>G c.(184-186)Cag>Gag p.Q62E NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 GATGACGAATCAGTCAGATAC 0.493000 66 91 0 0 0.139131 0 0 SUSD1 64420 broad.mit.edu 37 9 114825256 114825256 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:114825256A>G ENST00000374270.3 - 13 1983 c.1811T>C c.(1810-1812)cTc>cCc p.L604P SUSD1_ENST00000374264.2_Missense_Mutation_p.L604P|SUSD1_ENST00000374263.3_Missense_Mutation_p.L604P NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 604 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CCTCAGTCTGAGGCGTGGTAG 0.478000 3 234 0 0 0.115264 0 0 CENPT 80152 broad.mit.edu 37 16 67862385 67862385 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:67862385C>T ENST00000562787.1 - 15 2102 c.1554G>A c.(1552-1554)ctG>ctA p.L518L CENPT_ENST00000440851.2_Silent_p.L518L|CENPT_ENST00000219172.3_Silent_p.L518L|CENPT_ENST00000564817.1_Silent_p.L463L NM_025082.3 NP_079358.3 Q96BT3 CENPT_HUMAN centromere protein T 518 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) ACCGCCGCATCAGCAGCTCCA 0.562000 109 31 0 0 0.139131 0 0 ZNF566 84924 broad.mit.edu 37 19 36964331 36964331 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:36964331T>C ENST00000454319.1 - 3 173 c.39A>G c.(37-39)gtA>gtG p.V13V ZNF566_ENST00000392170.2_Silent_p.V13V|ZNF566_ENST00000434377.2_Silent_p.V13V|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Silent_p.V13V NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 13 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) GAGAGAAGTCTACGGACACAT 0.388000 84 133 0 0 0.139131 0 0 ANGPT4 51378 broad.mit.edu 37 20 870932 870932 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:870932G>C ENST00000381922.3 - 2 491 c.389C>G c.(388-390)cCc>cGc p.P130R ANGPT4_ENST00000546022.1_Missense_Mutation_p.P130R NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 130 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 CTCTAGCATGGGGGCCGTCTG 0.607000 67 125 0 0 0.139131 0 0 C5orf38 153571 broad.mit.edu 37 5 2755285 2755285 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:2755285G>C ENST00000397835.4 + 3 476 c.476G>C c.(475-477)gGg>gCg p.G159A C5orf38_ENST00000334000.3_3'UTR Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 45 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) AGAAggccggggcgctcgccg 0.796000 15 27 0 0 0.146539 0 0 TCF7L2 6934 broad.mit.edu 37 10 114910775 114910775 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:114910775C>T ENST00000355995.4 + 9 1401 c.894C>T c.(892-894)gtC>gtT p.V298V TCF7L2_ENST00000543371.1_Silent_p.V298V|TCF7L2_ENST00000538897.1_Silent_p.V298V|TCF7L2_ENST00000536810.1_Silent_p.V298V|TCF7L2_ENST00000369389.1_Silent_p.V9V|TCF7L2_ENST00000355717.4_Silent_p.V322V|TCF7L2_ENST00000542695.1_Silent_p.V14V|TCF7L2_ENST00000352065.5_Silent_p.V275V|TCF7L2_ENST00000545257.1_Silent_p.V298V|TCF7L2_ENST00000534894.1_Silent_p.V298V|TCF7L2_ENST00000369397.4_Silent_p.V275V Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 298 Mediates interaction with MAD2L2.|Pro-rich. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCCATATGGTCCCACCACATC 0.473000 T VTI1A colorectal 59 19 0 0 0.139131 0 0 NTSR2 23620 broad.mit.edu 37 2 11802345 11802345 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:11802345C>A ENST00000306928.5 - 2 680 c.646G>T c.(646-648)Gtg>Ttg p.V216L NM_012344.3 NP_036476.1 O95665 NTR2_HUMAN neurotensin receptor 2 216 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) AAGGGGAGCACGAAGGACACC 0.647000 99 146 1.90545e-35 2.61747e-35 0.139131 1 0 GABRA3 2556 broad.mit.edu 37 X 151514091 151514091 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:151514091A>G ENST00000370314.4 - 3 462 c.224T>C c.(223-225)cTg>cCg p.L75P GABRA3_ENST00000370311.1_Missense_Mutation_p.L75P|GABRA3_ENST00000535043.1_Missense_Mutation_p.L75P NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 75 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGCCGTCCAGAAGACGATC 0.473000 67 14 0 0 0.139131 0 0 YTHDF1 54915 broad.mit.edu 37 20 61833966 61833966 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:61833966C>A ENST00000370339.3 - 4 1667 c.1326G>T c.(1324-1326)ggG>ggT p.G442G YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.G392G NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 442 YTH. NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 AATGCCCACTCCCATTGACGC 0.607000 80 36 5.36554e-22 6.4888e-22 0.139131 1 0 SELP 6403 broad.mit.edu 37 1 169580850 169580850 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:169580850C>G ENST00000263686.6 - 7 1064 c.1027G>C c.(1027-1029)Gct>Cct p.A343P SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.A281P|SELP_ENST00000367793.2_Missense_Mutation_p.A281P|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367792.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 343 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TAGGCAAAAGCAGTGAGCGGA 0.532000 130 21 0 0 0.139131 0 0 MSN 4478 broad.mit.edu 37 X 64959590 64959590 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:64959590G>T ENST00000360270.5 + 13 1741 c.e13-1 MSN_ENST00000486030.1_Splice_Site NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 CATCCTCACAGGCCCTCACTT 0.483000 T ALK ALCL 54 15 2.64514e-33 3.54328e-33 0.139131 1 0 DCC 1630 broad.mit.edu 37 18 50450086 50450086 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:50450086T>A ENST00000442544.2 + 4 1323 c.707T>A c.(706-708)cTg>cAg p.L236Q DCC_ENST00000412726.1_Missense_Mutation_p.L84Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 236 Ig-like C2-type 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GATCCAGGACTGCATAGACAG 0.363000 39 97 0 0 0.225048 0 0 CEP250 11190 broad.mit.edu 37 20 34092279 34092279 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:34092279G>A ENST00000397527.1 + 30 6802 c.6082G>A c.(6082-6084)Gac>Aac p.D2028N CEP250_ENST00000342580.4_Missense_Mutation_p.D1972N NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2028 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) TGAGATCCAGGACCAGGATCT 0.607000 6 26 0 0 0.217242 0 0 SNHG14 104472715 broad.mit.edu 37 15 25337141 25337141 + RNA SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:25337141C>A ENST00000546682.1 + 0 969 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CAAAGGGAGTCACAGGGCAGT 0.527000 19 15 2.35188e-11 2.61455e-11 0.175082 1 0 GALC 2581 broad.mit.edu 37 14 88411945 88411945 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:88411945C>T ENST00000261304.2 - 14 1728 c.1622G>A c.(1621-1623)tGg>tAg p.W541* GALC_ENST00000393568.4_Nonsense_Mutation_p.W518*|GALC_ENST00000544807.2_Nonsense_Mutation_p.W485*|GALC_ENST00000393569.2_Nonsense_Mutation_p.W515* NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 541 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATCGGCAGCCCATGTAATGGG 0.418000 57 21 0 0 0.139131 0 0 BLK 640 broad.mit.edu 37 8 11418850 11418850 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:11418850A>G ENST00000259089.4 + 11 1661 c.1069A>G c.(1069-1071)Atc>Gtc p.I357V BLK_ENST00000529894.1_Missense_Mutation_p.I286V NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 357 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CATGAATTCCATCCACCGCGA 0.562000 25 25 0 0 0.099896 0 0 PARP8 79668 broad.mit.edu 37 5 50128662 50128662 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:50128662A>G ENST00000281631.5 + 23 2439 c.2281A>G c.(2281-2283)Agc>Ggc p.S761G PARP8_ENST00000514067.2_Missense_Mutation_p.S719G|PARP8_ENST00000503750.2_Missense_Mutation_p.S719G|PARP8_ENST00000514342.2_Missense_Mutation_p.S472G|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S761G|PARP8_ENST00000505554.1_Missense_Mutation_p.S740G NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 761 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GCCAGCTTCAAGCAGTAAAAG 0.438000 30 8 0 0 0.144211 0 0 RPS11P6 729258 broad.mit.edu 37 12 64790375 64790375 + RNA SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:64790375G>T ENST00000535684.1 + 0 896 AGAGGGTACTGCTAAAGGAAA 0.463000 3 7 0.004672 0.0047678 0.115264 1 0 MMP10 4319 broad.mit.edu 37 11 102647451 102647451 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:102647451G>A ENST00000279441.4 - 5 715 c.679C>T c.(679-681)Cac>Tac p.H227Y NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 227 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TTGGCTGAGTGAAAGAGCCCC 0.463000 61 22 0 0 0.139131 0 0 PTPRB 5787 broad.mit.edu 37 12 70928431 70928431 + Splice_Site SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:70928431C>T ENST00000334414.6 - 31 6249 c.6204_splice c.e31-1 p.E2069_splice PTPRB_ENST00000261266.5_Splice_Site_p.E1851_splice|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Splice_Site_p.E1761_splice|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Splice_Site_p.E1981_splice|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Splice_Site_p.E1761_splice|PTPRB_ENST00000538708.1_Splice_Site_p.E1761_splice NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1851 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCTGTTCCTCCTGTAAGAGC 0.493000 17 18 0 0 0.146539 0 0 CTTN 2017 broad.mit.edu 37 11 70281737 70281737 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:70281737G>C ENST00000376561.3 + 18 1836 c.1665G>C c.(1663-1665)agG>agC p.R555S CTTN_ENST00000301843.8_3'UTR|CTTN_ENST00000538675.1_Missense_Mutation_p.R276S|CTTN_ENST00000346329.3_3'UTR NM_001184740.1 NP_001171669.1 Q14247 SRC8_HUMAN cortactin 0 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGCTGGGGAGGAGAGGACTGG 0.597000 10 274 0 0 0.058154 0 0 CNBD1 168975 broad.mit.edu 37 8 88363948 88363948 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:88363948G>T ENST00000518476.1 + 9 1129 c.1078G>T c.(1078-1080)Ggt>Tgt p.G360C NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 360 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTCTTTTGTGGGTTATATTAA 0.264000 5 8 2.7689e-08 2.97587e-08 0.248553 1 0 OR8K5 219453 broad.mit.edu 37 11 55927730 55927730 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:55927730C>T ENST00000313447.1 - 1 63 c.64G>A c.(64-66)Gag>Aag p.E22K NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATCTGCAGCTCAGGCCGCCTT 0.453000 75 120 0 0 0.139131 0 0 NOX1 27035 broad.mit.edu 37 X 100117442 100117442 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:100117442A>G ENST00000372966.3 - 6 815 c.610T>C c.(610-612)Ttc>Ctc p.F204L NOX1_ENST00000217885.5_Missense_Mutation_p.F204L|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.F167L NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 204 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 GTATACCAGAAGACTTCAAAA 0.463000 218 48 0 0 0.139131 0 0 PLCL2 23228 broad.mit.edu 37 3 17056221 17056221 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:17056221G>A ENST00000418129.2 + 3 2923 c.2458G>A c.(2458-2460)Gag>Aag p.E820K PLCL2_ENST00000432376.1_Missense_Mutation_p.E820K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E820K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 946 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GTCATTCAAGGAGCTGTGTGG 0.463000 173 43 0 0 0.139131 0 0 MRC2 9902 broad.mit.edu 37 17 60755933 60755933 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:60755933G>T ENST00000303375.5 + 13 2523 c.2121G>T c.(2119-2121)ctG>ctT p.L707L NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 707 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GCCAGGAGCTGGGGGCCCAGC 0.627000 20 31 3.01185e-09 3.26957e-09 0.091800 1 0 ANO4 121601 broad.mit.edu 37 12 101295504 101295504 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:101295504C>A ENST00000538618.1 + 4 439 c.439C>A c.(439-441)Cgt>Agt p.R147S ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CCCAGCGTCACGTCGTCGCCT 0.498000 HNSCC(74;0.22) 49 79 8.86878e-18 1.03203e-17 0.139131 1 0 TLR4 7099 broad.mit.edu 37 9 120476539 120476539 + Missense_Mutation SNP C C A rs56225594 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:120476539C>A ENST00000355622.6 + 3 2234 c.2133C>A c.(2131-2133)gaC>gaA p.D711E TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D671E NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 711 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ACTACAGAGACTTTATTCCCG 0.473000 68 85 2.19297e-23 2.7181e-23 0.139131 1 0 HOXC13 3229 broad.mit.edu 37 12 54338804 54338804 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:54338804G>A ENST00000243056.3 + 2 913 c.757G>A c.(757-759)Gag>Aag p.E253K NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 253 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 CCTGCAGCCCGAGGTGAGCAG 0.607000 T NUP98 AML 148 213 0 0 0.139131 0 0 MIR521-1 574494 broad.mit.edu 37 19 54251955 54251955 + RNA SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:54251955T>A ENST00000384902.1 + 0 66 NR_030216.1 CGCACTTCCCTTTAGAGTGTT 0.448000 52 84 0 0 0.139131 0 0 TRPM7 54822 broad.mit.edu 37 15 50929755 50929755 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:50929755C>A ENST00000313478.7 - 7 977 c.696G>T c.(694-696)ctG>ctT p.L232L TRPM7_ENST00000560955.1_Silent_p.L232L NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 232 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TCAATTTGCTCAGGGGGTTCA 0.373000 57 57 1.54886e-18 1.81872e-18 0.139131 1 0 THEMIS 387357 broad.mit.edu 37 6 128040968 128040968 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:128040968G>T ENST00000368250.1 - 6 2020 c.1521_splice c.e6-1 p.R508_splice THEMIS_ENST00000543064.1_Splice_Site_p.R626_splice|THEMIS_ENST00000368248.2_Splice_Site_p.R587_splice|THEMIS_ENST00000537166.1_Splice_Site_p.R552_splice Q8N1K5 THMS1_HUMAN thymocyte selection associated 587 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ACGTGATGACGCTGAAATGAC 0.368000 74 81 2.51111e-31 3.31568e-31 0.139131 1 0 ATP6V0A2 23545 broad.mit.edu 37 12 124221737 124221737 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:124221737G>T ENST00000330342.3 + 9 1205 c.957G>T c.(955-957)gtG>gtT p.V319V NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 319 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GCTTTGACGTGACCAACAAGT 0.562000 51 68 6.17242e-35 8.40748e-35 0.139131 1 0 CDCA3 83461 broad.mit.edu 37 12 6958258 6958258 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:6958258T>C ENST00000538862.2 - 6 1657 c.756A>G c.(754-756)caA>caG p.Q252Q CDCA3_ENST00000535406.1_Silent_p.Q252Q|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000229265.6_Silent_p.Q227Q|CDCA3_ENST00000540683.1_3'UTR Q99618 CDCA3_HUMAN cell division cycle associated 3 252 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 GGTCCTGGCCTTGCTCCCATG 0.532000 50 52 0 0 0.139131 0 0 AVIL 10677 broad.mit.edu 37 12 58197112 58197112 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:58197112T>G ENST00000537081.1 - 15 1858 c.1859A>C c.(1858-1860)cAa>cCa p.Q620P TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.Q627P|AVIL_ENST00000550083.1_5'UTR O75366 AVIL_HUMAN advillin 627 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GACAACGAATTGGCCGGTCTT 0.478000 OREG0021955 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 139 214 0 0 0.139131 0 0 ERBB4 2066 broad.mit.edu 37 2 212288906 212288906 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:212288906A>G ENST00000342788.4 - 23 3150 c.2840T>C c.(2839-2841)aTt>aCt p.I947T ERBB4_ENST00000402597.1_Missense_Mutation_p.I937T|ERBB4_ENST00000436443.1_Missense_Mutation_p.I947T NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 947 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTAAACGTCAATAGTGCAGAT 0.388000 TSP Lung(8;0.080) 70 105 0 0 0.139131 0 0 NNMT 4837 broad.mit.edu 37 11 114168790 114168790 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:114168790T>A ENST00000535401.1 + 4 536 c.272T>A c.(271-273)cTg>cAg p.L91Q RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.L91Q|NNMT_ENST00000541754.1_5'UTR P40261 NNMT_HUMAN nicotinamide N-methyltransferase 91 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) GACCAGAACCTGCAGGAGCTG 0.517000 73 24 0 0 0.139131 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117785164 117785164 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:117785164C>T ENST00000528626.1 - 3 590 c.517G>A c.(517-519)Gct>Act p.A173T TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A208T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A208T|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A208T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A208T NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 203 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CAGCGAACAGCGTGCTTGGGA 0.617000 205 77 0 0 0.139131 0 0 TPTE2 93492 broad.mit.edu 37 13 20039644 20039644 + Silent SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:20039644A>T ENST00000400230.2 - 8 617 c.573T>A c.(571-573)ctT>ctA p.L191L TPTE2_ENST00000382977.4_Silent_p.L191L|TPTE2_ENST00000390680.2_Silent_p.L114L|TPTE2_ENST00000382978.1_Silent_p.L151L|TPTE2_ENST00000400103.2_Silent_p.L80L|TPTE2_ENST00000255310.6_Silent_p.L114L|TPTE2_ENST00000382975.4_Silent_p.L151L|TPTE2_ENST00000457266.2_Silent_p.L80L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 191 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTTTTTGATGAAGCAGATGAA 0.333000 28 11 0 0 0.116897 0 0 C1QTNF6 114904 broad.mit.edu 37 22 37584249 37584249 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:37584249T>C ENST00000337843.2 - 1 80 c.5A>G c.(4-6)cAg>cGg p.Q2R C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Q2R NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 0 G -> V (in dbSNP:rs229527). collagen breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 CCTGAGCCACTGCATGGCCTC 0.637000 123 20 0 0 0.139131 0 0 CHSY3 337876 broad.mit.edu 37 5 129520379 129520379 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:129520379G>T ENST00000305031.4 + 3 1902 c.1544G>T c.(1543-1545)cGg>cTg p.R515L NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 515 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) AGCAGAGGACGGCTCATTGAC 0.468000 36 12 1.58521e-26 2.02294e-26 0.225048 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803593 142803593 + RNA SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:142803593T>A ENST00000423385.1 - 0 1372 AAAATTATGTTAACTAAGAAA 0.284000 7 142 0 0 0.038147 0 0 FAM194A 131831 broad.mit.edu 37 3 150400034 150400034 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:150400034C>A ENST00000295910.6 - 7 905 c.853G>T c.(853-855)Gtg>Ttg p.V285L FAM194A_ENST00000491361.1_Missense_Mutation_p.V139L NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 285 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GAAACATCCACATTAGAAAAA 0.358000 88 123 2.01383e-38 2.82635e-38 0.139131 1 0 PTPRN2 5799 broad.mit.edu 37 7 157985038 157985038 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:157985038T>C ENST00000389413.3 - 5 633 c.530A>G c.(529-531)cAg>cGg p.Q177R PTPRN2_ENST00000389418.4_Missense_Mutation_p.Q177R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q200R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q160R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q139R NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 177 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GGGTCTGTCCTGCGCCGTATG 0.677000 25 35 0 0 0.099896 0 0 GPR128 84873 broad.mit.edu 37 3 100349615 100349615 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:100349615G>T ENST00000273352.3 + 3 564 c.296G>T c.(295-297)gGa>gTa p.G99V NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 99 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GGCAGATATGGACCATCCTTG 0.348000 88 107 5.34484e-38 7.4368e-38 0.139131 1 0 FAM47C 442444 broad.mit.edu 37 X 37027498 37027498 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:37027498G>T ENST00000358047.3 + 1 1067 c.1015G>T c.(1015-1017)Gtg>Ttg p.V339L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 339 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CAAGACTCTGGTGTCCAGTCT 0.622000 88 22 1.07111e-62 1.63445e-62 0.139131 1 0 F13B 2165 broad.mit.edu 37 1 197031010 197031010 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:197031010C>A ENST00000367412.1 - 3 398 c.355G>T c.(355-357)Gct>Tct p.A119S NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 119 Sushi 2. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TACCCTGAAGCGCAACCATAA 0.403000 46 18 4.44401e-20 5.27574e-20 0.117977 1 0 COL14A1 7373 broad.mit.edu 37 8 121240971 121240971 + Silent SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:121240971A>T ENST00000297848.3 + 18 2430 c.2160A>T c.(2158-2160)ccA>ccT p.P720P COL14A1_ENST00000247781.3_Silent_p.P625P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.P720P|COL14A1_ENST00000537875.1_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 720 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGACAGAACCAGCTACAACCA 0.328000 62 91 0 0 0.139131 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136241 40136241 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:40136241C>A ENST00000278198.2 - 2 3565 c.1602G>T c.(1600-1602)gtG>gtT p.V534V LRRC4C_ENST00000528697.1_Silent_p.V534V|LRRC4C_ENST00000527150.1_Silent_p.V534V|LRRC4C_ENST00000530763.1_Silent_p.V534V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 534 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTGTGATGGCCACAAAACACC 0.463000 61 16 1.74971e-23 2.17704e-23 0.139131 1 0 LPHN2 23266 broad.mit.edu 37 1 82445578 82445578 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:82445578C>A ENST00000370728.1 + 20 3680 c.3035C>A c.(3034-3036)aCa>aAa p.T1012K LPHN2_ENST00000370715.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370713.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1012K|LPHN2_ENST00000394879.1_Missense_Mutation_p.T999K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1012K|LPHN2_ENST00000370721.1_Missense_Mutation_p.T937K|LPHN2_ENST00000359929.3_Missense_Mutation_p.T999K|LPHN2_ENST00000370723.1_Missense_Mutation_p.T999K|LPHN2_ENST00000319517.6_Missense_Mutation_p.T999K|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1012K O95490 LPHN2_HUMAN latrophilin 2 1012 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTGGTGATCACATTGTGCAAA 0.299000 31 62 2.05212e-20 2.44066e-20 0.225048 1 0 SNX14 57231 broad.mit.edu 37 6 86235871 86235871 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:86235871C>T ENST00000314673.3 - 21 2256 c.2080G>A c.(2080-2082)Gat>Aat p.D694N SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Missense_Mutation_p.D641N|SNX14_ENST00000505648.1_Missense_Mutation_p.D642N|SNX14_ENST00000369627.2_Missense_Mutation_p.D685N|SNX14_ENST00000508980.1_5'UTR NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 694 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AGTATCTTATCAAGAAATTGT 0.323000 12 24 0 0 0.093190 0 0 OR8B4 283162 broad.mit.edu 37 11 124294721 124294721 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:124294721C>A ENST00000356130.3 - 1 68 c.47G>T c.(46-48)gGa>gTa p.G16V NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCTGATAATCCCACAAGGAT 0.473000 34 9 6.70999e-13 7.511e-13 0.203993 1 0 TRIM27 5987 broad.mit.edu 37 6 28876602 28876602 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:28876602T>A ENST00000377199.3 - 6 1258 c.902A>T c.(901-903)gAt>gTt p.D301V TRIM27_ENST00000377194.3_Missense_Mutation_p.D301V NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 301 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TTTCTCCATATCTGACTGCAT 0.368000 T RET papillary thyroid 24 10 0 0 0.091800 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632328 156632328 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:156632328G>T ENST00000296518.7 + 6 1220 c.1011G>T c.(1009-1011)ggG>ggT p.G337G GUCY1A3_ENST00000393832.3_Silent_p.G79G|GUCY1A3_ENST00000455639.2_Silent_p.G337G|GUCY1A3_ENST00000513574.1_Silent_p.G337G|GUCY1A3_ENST00000506455.1_Silent_p.G337G|GUCY1A3_ENST00000511507.1_Silent_p.G337G|GUCY1A3_ENST00000511108.1_Silent_p.G337G Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 337 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CGTTTAGCGGGATCATGACTA 0.383000 73 30 2.93416e-43 4.21867e-43 0.139131 1 0 BCL2A1 597 broad.mit.edu 37 15 80263104 80263104 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:80263104A>G ENST00000267953.3 - 1 684 c.358T>C c.(358-360)Tat>Cat p.Y120H BCL2A1_ENST00000335661.6_Missense_Mutation_p.Y120H NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 120 anti-apoptosis|apoptosis cytoplasm protein binding p.Y120H(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 GCAACAAAATATGAAATCTCC 0.388000 133 171 0 0 0.139131 0 0 DDO 8528 broad.mit.edu 37 6 110714170 110714170 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:110714170C>T ENST00000368924.3 - 5 933 c.918G>A c.(916-918)agG>agA p.R306R DDO_ENST00000368923.3_Silent_p.R247R|DDO_ENST00000368925.1_Silent_p.R278R NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 278 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GCCTGTAGGGCCTCAAGCCCA 0.607000 138 221 0 0 0.139131 0 0 GPR98 84059 broad.mit.edu 37 5 89938711 89938711 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:89938711G>T ENST00000405460.2 + 13 2502 c.2406G>T c.(2404-2406)agG>agT p.R802S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 802 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCGATCAAGGGGGTCCCTTG 0.403000 92 25 1.04318e-46 1.53744e-46 0.139131 1 0 TUBB6 84617 broad.mit.edu 37 18 12325303 12325303 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:12325303C>T ENST00000317702.5 + 4 749 c.515C>T c.(514-516)tCg>tTg p.S172L TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 172 '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) GTCATGCCCTCGCCCAAGGTG 0.617000 98 103 0 0 0.139131 0 0 GRM5 2915 broad.mit.edu 37 11 88781022 88781022 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:88781022G>A ENST00000418177.2 - 2 386 c.19C>T c.(19-21)Ctg>Ttg p.L7L GRM5_ENST00000393297.1_Silent_p.L7L|GRM5_ENST00000455756.2_Silent_p.L7L|GRM5_ENST00000305447.4_Silent_p.L7L|GRM5_ENST00000305432.5_Silent_p.L7L|GRM5_ENST00000393294.3_Silent_p.L7L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 7 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGACTGACAGGATCAACAGA 0.473000 23 16 0 0 0.264190 0 0 C5orf34 375444 broad.mit.edu 37 5 43502545 43502545 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:43502545C>A ENST00000306862.2 - 6 1456 c.1081G>T c.(1081-1083)Gtt>Ttt p.V361F RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 361 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) GATTTGAAAACAGATCCATCC 0.308000 74 204 1.74474e-33 2.34201e-33 0.139131 1 0 ZNF442 79973 broad.mit.edu 37 19 12461204 12461204 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:12461204G>A ENST00000242804.4 - 6 1777 c.1195C>T c.(1195-1197)Cac>Tac p.H399Y ZNF442_ENST00000438182.1_Missense_Mutation_p.H330Y NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TCTCCAGTGTGCATTATCATA 0.428000 168 241 0 0 0.139131 0 0 TNFSF14 8740 broad.mit.edu 37 19 6664993 6664993 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:6664993G>A ENST00000326176.9 - 5 940 c.559C>T c.(559-561)Cgc>Tgc p.R187C TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187C|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223C NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 223 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding p.R223C(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CGAACCAGGCGTTCATCCAGC 0.612000 109 155 0 0 0.139131 0 0 TYW1B 441250 broad.mit.edu 37 7 72209696 72209696 + RNA SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:72209696T>G ENST00000438125.1 - 0 577 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCCTACTAGTATCTGCACGA 0.363000 12 16 0 0 0.080935 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407468 1407468 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:1407468C>T ENST00000381524.3 + 5 462 c.276C>T c.(274-276)gtC>gtT p.V92V CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Silent_p.V92V|CSF2RA_ENST00000381500.1_Silent_p.V92V|CSF2RA_ENST00000381529.3_Silent_p.V92V|CSF2RA_ENST00000381509.3_Silent_p.V92V|CSF2RA_ENST00000432318.2_Silent_p.V92V|CSF2RA_ENST00000361536.3_Silent_p.V92V|CSF2RA_ENST00000355805.2_Silent_p.V92V|CSF2RA_ENST00000417535.2_Silent_p.V92V P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 92 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATGAAGGAGTCACATTTGAGG 0.423000 163 292 0 0 0.139131 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249164 90249164 + RNA SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:90249164A>G ENST00000468879.1 + 0 301 TAGGAGACAGAGTCACCATCA 0.463000 110 165 0 0 0.139131 0 0 OSBPL3 26031 broad.mit.edu 37 7 24856232 24856232 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:24856232G>A ENST00000313367.2 - 18 2475 c.2024C>T c.(2023-2025)cCa>cTa p.P675L OSBPL3_ENST00000396431.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P639L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P639L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P608L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P608L NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 675 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 AACTTACACTGGCAGAGTCAC 0.448000 109 137 0 0 0.139131 0 0 MOB4 25843 broad.mit.edu 37 2 198413136 198413136 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:198413136G>T ENST00000323303.4 + 6 686 c.431G>T c.(430-432)aGc>aTc p.S144I MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_Missense_Mutation_p.S45I|MOB4_ENST00000409360.1_Missense_Mutation_p.S112I|MOB4_ENST00000448447.2_Missense_Mutation_p.S123I|MOB4_ENST00000604458.1_Missense_Mutation_p.S180I|MOB4_ENST00000233892.4_Missense_Mutation_p.S112I NM_001202485.1|NM_015387.4 NP_001189414.1|NP_056202.2 MOB family member 4, phocein TATTTTCCCAGCAGGTAATCG 0.348000 49 78 2.81731e-22 3.44574e-22 0.139131 1 0 UNC13C 440279 broad.mit.edu 37 15 54307585 54307585 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:54307585T>C ENST00000545554.1 + 1 2485 c.2485T>C c.(2485-2487)Tta>Cta p.L829L UNC13C_ENST00000260323.11_Silent_p.L829L|UNC13C_ENST00000537900.1_Silent_p.L829L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 829 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGCTCTTCATTAATGGGGAG 0.428000 40 39 0 0 0.257332 0 0 DEPDC4 120863 broad.mit.edu 37 12 100660775 100660775 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:100660775T>C ENST00000416321.1 - 1 82 c.80A>G c.(79-81)aAc>aGc p.N27S NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 27 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 CGGAAGCTCGTTCTGACTGAC 0.602000 97 119 0 0 0.139131 0 0 APOL3 80833 broad.mit.edu 37 22 36541544 36541544 + Silent SNP G G A rs61731691 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:36541544G>A ENST00000397293.2 - 3 461 c.114C>T c.(112-114)ttC>ttT p.F38F APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000349314.2_Silent_p.F109F|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR O95236 APOL3_HUMAN apolipoprotein L, 3 109 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 CCGCAGTCACGAATCTCTTCC 0.552000 50 105 0 0 0.139131 0 0 GJA10 84694 broad.mit.edu 37 6 90604608 90604608 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:90604608C>T ENST00000369352.1 + 1 421 c.421C>T c.(421-423)Cag>Tag p.Q141* NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 141 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GTTAGAGGAGCAGAAGAGGAT 0.463000 49 72 0 0 0.139131 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762115 130762115 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:130762115G>T ENST00000392429.1 + 2 2926 c.548G>T c.(547-549)gGc>gTc p.G183V TMEM200A_ENST00000545622.1_Missense_Mutation_p.G183V|TMEM200A_ENST00000296978.3_Missense_Mutation_p.G183V NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 183 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CAAATGAACGGCATGTACACT 0.443000 49 62 4.10826e-27 5.2739e-27 0.139131 1 0 DPYSL2 1808 broad.mit.edu 37 8 26501563 26501563 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:26501563A>T ENST00000311151.5 + 10 1478 c.1066A>T c.(1066-1068)Aat>Tat p.N356Y DPYSL2_ENST00000521913.1_Missense_Mutation_p.N320Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.N320Y NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 356 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) GGAGGGCACCAATGGCACTGA 0.577000 28 47 0 0 0.144211 0 0 FAM196A 642938 broad.mit.edu 37 10 128974408 128974408 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:128974408G>T ENST00000522781.1 - 4 807 c.252C>A c.(250-252)taC>taA p.Y84* FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Y84*|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 84 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGTATTTGCGGTAGGCTGCTC 0.607000 68 22 1.55545e-33 2.09225e-33 0.139131 1 0 CR1L 1379 broad.mit.edu 37 1 207871016 207871016 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:207871016G>C ENST00000508064.2 + 6 1091 c.1031G>C c.(1030-1032)aGa>aCa p.R344T CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 344 Sushi 5. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 GCAGCCCCCAGATGTGAAGGT 0.493000 286 64 0 0 0.139131 0 0 ASB10 136371 broad.mit.edu 37 7 150878289 150878289 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:150878289G>A ENST00000422024.1 - 3 1101 c.976C>T c.(976-978)Ctt>Ttt p.L326F ASB10_ENST00000420175.2_Missense_Mutation_p.L281F|ASB10_ENST00000275838.1_Missense_Mutation_p.L281F|ASB10_ENST00000434669.1_Missense_Mutation_p.L326F|ASB10_ENST00000377867.3_Missense_Mutation_p.L266F NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 281 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGCTGAAAGCAGCAAGCTG 0.677000 27 40 0 0 0.108266 0 0 NKX2-4 644524 broad.mit.edu 37 20 21376612 21376612 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:21376612C>T ENST00000351817.4 - 2 1630 c.1002G>A c.(1000-1002)gcG>gcA p.A334A NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 334 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 ccccggcggccgcgtccaggg 0.781000 17 11 0 0 0.116897 0 0 NPAP1 23742 broad.mit.edu 37 15 24921370 24921370 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:24921370C>T ENST00000329468.2 + 1 830 c.356C>T c.(355-357)cCc>cTc p.P119L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ATCCCTCCTCCCAGCCGCATG 0.652000 71 89 0 0 0.139131 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110425733 110425733 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110425733C>T ENST00000378402.5 + 21 2423 c.2319C>T c.(2317-2319)agC>agT p.S773S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 773 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTACTAGAAGCACTGATACAC 0.289000 HNSCC(38;0.096) 7 4 0 0 0.038147 0 0 OR5A2 219981 broad.mit.edu 37 11 59189576 59189576 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:59189576G>T ENST00000302040.4 - 1 873 c.851C>A c.(850-852)cCc>cAc p.P284H NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 ATTCACCACGGGGATCACCAA 0.478000 56 68 1.17673e-23 1.46977e-23 0.139131 1 0 LOC101926911 101926911 broad.mit.edu 37 15 91578573 91578573 + RNA SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:91578573A>G ENST00000557804.1 + 0 891 CGCCTTTAAAAGGGCTAGGGC 0.438000 2 10 0 0 0.115264 0 0 CACNA2D1 781 broad.mit.edu 37 7 81693670 81693670 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:81693670C>A ENST00000356860.3 - 9 1067 c.728_splice c.e9-1 p.W243_splice CACNA2D1_ENST00000423588.1_Splice_Site_p.W243_splice|CACNA2D1_ENST00000356253.5_Splice_Site_p.W243_splice NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 243 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTTGGATGTACCTGAAACAAA 0.318000 28 57 2.61193e-14 2.94925e-14 0.144211 1 0 DNAJC22 79962 broad.mit.edu 37 12 49745133 49745133 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:49745133G>A ENST00000549441.2 + 4 2078 c.874G>A c.(874-876)Gaa>Aaa p.E292K DNAJC22_ENST00000395069.3_Missense_Mutation_p.E292K Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 292 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 AACAAATGAAGAAATACATCG 0.522000 33 73 0 0 0.173368 0 0 KIF16B 55614 broad.mit.edu 37 20 16486697 16486697 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:16486697C>A ENST00000354981.2 - 8 995 c.838G>T c.(838-840)Gtg>Ttg p.V280L KIF16B_ENST00000355755.3_Missense_Mutation_p.V280L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.V280L NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 280 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CCCAGAGTCACGAGGGACTTG 0.512000 80 377 9.59377e-39 1.34938e-38 0.139131 1 0 CYP2B6 1555 broad.mit.edu 37 19 41515933 41515933 + Missense_Mutation SNP A A T rs146617126 byFrequency TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:41515933A>T ENST00000324071.4 + 6 864 c.857A>T c.(856-858)cAg>cTg p.Q286L CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 286 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TTCAGCCACCAGAACCTCAAC 0.562000 43 62 0 0 0.111260 0 0 ILF3 3609 broad.mit.edu 37 19 10794209 10794209 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:10794209T>C ENST00000449870.1 + 15 2171 c.1854T>C c.(1852-1854)ttT>ttC p.F618F ILF3_ENST00000420083.1_Silent_p.F614F|ILF3_ENST00000318511.3_Silent_p.F614F|ILF3_ENST00000589998.1_Silent_p.F614F|ILF3_ENST00000592763.1_Silent_p.F618F|ILF3_ENST00000588657.1_Silent_p.F618F|ILF3_ENST00000407004.3_Silent_p.F618F|ILF3_ENST00000250241.8_Silent_p.F614F|ILF3_ENST00000590261.1_Silent_p.F614F NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 614 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GACCGAAATTTGCTGCTAAGG 0.537000 75 118 0 0 0.139131 0 0 UGT2B7 7364 broad.mit.edu 37 4 69978432 69978432 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:69978432C>A ENST00000305231.7 + 6 1614 c.1568C>A c.(1567-1569)gCa>gAa p.A523E UGT2B7_ENST00000508661.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 523 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GCTAGAAAAGCAAAGAAGGGA 0.378000 48 25 1.67211e-32 2.22604e-32 0.139131 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:102293008A>C ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 3 21 0 0 0.150653 0 0 RORB 6096 broad.mit.edu 37 9 77257706 77257706 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:77257706A>G ENST00000376896.2 + 4 1224 c.612A>G c.(610-612)gcA>gcG p.A204A RORB_ENST00000396204.2_Silent_p.A215A NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 215 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGCAGTTAGCACCAGGGATAA 0.408000 47 70 0 0 0.139131 0 0 WDR91 29062 broad.mit.edu 37 7 134893687 134893687 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:134893687C>T ENST00000354475.4 - 3 398 c.367G>A c.(367-369)Gct>Act p.A123T WDR91_ENST00000423565.1_Missense_Mutation_p.A88T|WDR91_ENST00000344400.5_Missense_Mutation_p.A123T NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 123 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 TTCCACTCAGCCTGGTTCTGG 0.537000 81 134 0 0 0.139131 0 0 FAR1 84188 broad.mit.edu 37 11 13716315 13716315 + Translation_Start_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:13716315G>A ENST00000354817.3 + 2 147 c.3G>A c.(1-3)atG>atA p.M1I NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 1 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 GGATCAAAATGGTTTCAATCC 0.373000 42 21 0 0 0.117977 0 0 EPHA3 2042 broad.mit.edu 37 3 89521722 89521722 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:89521722G>T ENST00000336596.2 + 16 3024 c.2799G>T c.(2797-2799)acG>acT p.T933T EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 933 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAATCTTCACGGGTGTGGAGT 0.413000 TSP Lung(6;0.00050) 60 28 1.32218e-49 1.96204e-49 0.139131 1 0 COL22A1 169044 broad.mit.edu 37 8 139638470 139638470 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:139638470G>T ENST00000303045.6 - 51 4126 c.3680C>A c.(3679-3681)cCt>cAt p.P1227H COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1207H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1227 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGGGGCCAGGAGGGCCTTC 0.403000 HNSCC(7;0.00092) 33 78 1.04352e-10 1.14822e-10 0.193644 1 0 SAMD3 154075 broad.mit.edu 37 6 130465774 130465774 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:130465774G>T ENST00000368134.2 - 14 2062 c.1454C>A c.(1453-1455)tCc>tAc p.S485Y SAMD3_ENST00000457563.2_Missense_Mutation_p.S509Y|SAMD3_ENST00000439090.2_Missense_Mutation_p.S485Y|SAMD3_ENST00000437477.2_Missense_Mutation_p.S485Y NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 485 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GAAAGTTTGGGACAGTCTTCT 0.438000 63 100 7.55815e-43 1.08189e-42 0.139131 1 0 ZNF835 90485 broad.mit.edu 37 19 57175606 57175606 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:57175606G>T ENST00000537055.2 - 2 1192 c.961C>A c.(961-963)Ctg>Atg p.L321M NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.G334fs*26(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TGCTCGGCCAGAGAGGCGCTC 0.706000 9 9 0.0581538 0.0589741 0.058154 1 0 ZNF658 26149 broad.mit.edu 37 9 40774556 40774556 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:40774556T>C ENST00000602553.1 - 5 1013 c.719A>G c.(718-720)gAa>gGa p.E240G ZNF658_ENST00000377626.3_Missense_Mutation_p.E240G|ZNF658_ENST00000441795.1_Missense_Mutation_p.E238G Q5TYW1 ZN658_HUMAN zinc finger protein 658 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACAGGACTTTTCTCCTGTTAG 0.323000 74 87 0 0 0.139131 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 6 289 0 0 0.058154 0 0 BUB1B 701 broad.mit.edu 37 15 40488910 40488910 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:40488910G>A ENST00000287598.6 + 9 1418 c.1223G>A c.(1222-1224)gGg>gAg p.G408E BUB1B_ENST00000412359.3_Missense_Mutation_p.G422E NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 408 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GCAGGAGTAGGGGAATTCTCC 0.418000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 4 138 0 0 0.150653 0 0 BAGE2 85319 broad.mit.edu 37 21 11058319 11058319 + RNA SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr21:11058319C>T ENST00000470054.1 - 0 328 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) ACAAAATGCACATCGCTGAAA 0.388000 25 253 0 0 0.264190 0 0 ASIC5 51802 broad.mit.edu 37 4 156752976 156752976 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:156752976C>A ENST00000537611.2 - 9 1373 c.1327_splice c.e9+1 p.A443_splice NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 443 integral to membrane|plasma membrane TAACACTTACCAAGTAACTCA 0.378000 54 26 2.69774e-35 3.69797e-35 0.139131 1 0 MAPRE2 10982 broad.mit.edu 37 18 32681988 32681988 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:32681988G>C ENST00000436190.2 + 5 713 c.439G>C c.(439-441)Gat>Cat p.D147H MAPRE2_ENST00000413393.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000588910.1_Missense_Mutation_p.D159H|MAPRE2_ENST00000589699.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000300249.5_Missense_Mutation_p.D159H|MAPRE2_ENST00000538170.2_Missense_Mutation_p.D106H NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 159 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 GAAATTCTATGATGCTAACTA 0.433000 44 54 0 0 0.268233 0 0 GPR149 344758 broad.mit.edu 37 3 154146445 154146445 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:154146445G>T ENST00000389740.2 - 1 1059 c.960C>A c.(958-960)gtC>gtA p.V320V NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 320 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCCAAAGGACGACTTTTGTAA 0.567000 229 311 4.76836e-124 7.39839e-124 0.139131 1 0 NPAP1 23742 broad.mit.edu 37 15 24922340 24922340 + Silent SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:24922340T>G ENST00000329468.2 + 1 1800 c.1326T>G c.(1324-1326)ccT>ccG p.P442P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGCCTATCCCTCCACTTTCCA 0.527000 60 100 0 0 0.139131 0 0 USP30 84749 broad.mit.edu 37 12 109522854 109522854 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:109522854C>T ENST00000257548.5 + 12 1358 c.1265C>T c.(1264-1266)cCt>cTt p.P422L USP30_ENST00000392784.2_Missense_Mutation_p.P391L NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 422 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATGCCCTTCCCTCTCCCAGTT 0.507000 250 374 0 0 0.139131 0 0 ZNF578 147660 broad.mit.edu 37 19 53013843 53013843 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53013843T>G ENST00000421239.2 + 6 453 c.209T>G c.(208-210)aTg>aGg p.M70R NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TCCAAACGCATGATGAAGGAG 0.373000 115 216 0 0 0.139131 0 0 C1orf65 164127 broad.mit.edu 37 1 223568029 223568029 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:223568029C>G ENST00000366875.3 + 1 1315 c.1212C>G c.(1210-1212)gcC>gcG p.A404A NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 404 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) TGGTGGAAGCCTGTCGCAAGA 0.622000 43 6 0 0 0.139131 0 0 KCNK17 89822 broad.mit.edu 37 6 39272355 39272355 + Silent SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:39272355G>C ENST00000453413.2 - 3 569 c.429C>G c.(427-429)ctC>ctG p.L143L KCNK17_ENST00000373231.4_Silent_p.L143L NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 143 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 CCACGAGGTTGAGTGGGATCC 0.637000 91 172 0 0 0.139131 0 0 NFKB2 4791 broad.mit.edu 37 10 104161253 104161253 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:104161253C>A ENST00000369966.3 + 20 2521 c.2271C>A c.(2269-2271)ccC>ccA p.P757P NFKB2_ENST00000428099.1_Silent_p.P757P|NFKB2_ENST00000189444.6_Silent_p.P757P NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 757 Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) TGGAGCCACCCCTGACCCCGC 0.597000 T IGH@ B-NHL 32 21 2.75727e-19 3.25539e-19 0.214465 1 0 DPY19L3 147991 broad.mit.edu 37 19 32973120 32973120 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:32973120G>T ENST00000342179.5 + 19 2340 c.2125G>T c.(2125-2127)Gtt>Ttt p.V709F DPY19L3_ENST00000392250.2_Missense_Mutation_p.V709F|DPY19L3_ENST00000586987.1_3'UTR NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 709 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) AACCTTCCACGTTTACAAGCT 0.458000 102 157 1.33972e-64 2.04916e-64 0.139131 1 0 CNNM1 26507 broad.mit.edu 37 10 101120594 101120594 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:101120594G>C ENST00000356713.4 + 3 2009 c.1720G>C c.(1720-1722)Gac>Cac p.D574H CNNM1_ENST00000446890.1_Missense_Mutation_p.D503H|CNNM1_ENST00000370534.4_Missense_Mutation_p.D209H|CNNM1_ENST00000370528.3_Missense_Mutation_p.D503H NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 574 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CCCCACAGCTGACAATCGGAA 0.507000 137 58 0 0 0.139131 0 0 OR2F2 135948 broad.mit.edu 37 7 143633169 143633169 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:143633169A>T ENST00000408955.2 + 1 911 c.844A>T c.(844-846)Atg>Ttg p.M282L NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TGCCATTGTTATGCCTCTGCT 0.463000 88 111 0 0 0.139131 0 0 C10orf71 118461 broad.mit.edu 37 10 50532657 50532657 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:50532657G>A ENST00000374144.3 + 3 2355 c.2067G>A c.(2065-2067)caG>caA p.Q689Q C10orf71_ENST00000323868.4_Silent_p.Q689Q Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 689 p.Q689Q(2) endometrium(1) 1 CAGGACTTCAGAACACACATT 0.502000 25 11 0 0 0.099896 0 0 TP53 7157 broad.mit.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:7577610T>C ENST00000420246.2 - 7 805 c.e7-2 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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) AGAGCCAACCTAGGAGATAAC 0.522000 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) 53 10 0 0 0.139131 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433465 73433465 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:73433465T>C ENST00000263666.4 - 10 2366 c.2252A>G c.(2251-2253)gAc>gGc p.D751G PDZRN3_ENST00000479530.1_Missense_Mutation_p.D468G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D408G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D408G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D473G NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 751 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GCTGTCCTTGTCGGATTTCTC 0.617000 26 12 0 0 0.099896 0 0 ZNF782 158431 broad.mit.edu 37 9 99580614 99580614 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:99580614C>G ENST00000481138.1 - 6 2352 c.1691G>C c.(1690-1692)tGt>tCt p.C564S ZNF782_ENST00000535338.1_Missense_Mutation_p.C432S NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) ACAATGATTACATTTATAGGG 0.413000 156 254 0 0 0.139131 0 0 SIAH3 283514 broad.mit.edu 37 13 46357979 46357979 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:46357979C>A ENST00000400405.2 - 2 455 c.349G>T c.(349-351)Gaa>Taa p.E117* NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 117 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding p.E117K(1) large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 AGGCGGCCTTCCCACTGGCAG 0.667000 55 24 4.67498e-28 6.07372e-28 0.139131 1 0 COL11A1 1301 broad.mit.edu 37 1 103496752 103496752 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:103496752C>T ENST00000358392.2 - 5 1017 c.700G>A c.(700-702)Gac>Aac p.D234N COL11A1_ENST00000512756.1_Missense_Mutation_p.D234N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D234N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D234N NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 234 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCACAGTAGTCATATGCTGCC 0.443000 21 41 0 0 0.219247 0 0 TTN 7273 broad.mit.edu 37 2 179427269 179427269 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:179427269G>A ENST00000589042.1 - 326 83814 c.83590C>T c.(83590-83592)Ccc>Tcc p.P27864S TTN_ENST00000359218.5_Missense_Mutation_p.P18924S|TTN_ENST00000342992.6_Missense_Mutation_p.P25296S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18991S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26223S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799S|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26223 Ig-like 130. 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) GGTGGGAGGGGTGGTTCAGAC 0.448000 52 76 0 0 0.139131 0 0 LIN28B 389421 broad.mit.edu 37 6 105406115 105406115 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:105406115G>A ENST00000345080.4 + 2 355 c.152G>A c.(151-153)cGa>cAa p.R51Q NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 51 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) ATGATAAACCGAGAGGGAAGC 0.498000 99 154 0 0 0.139131 0 0 CYP4A11 1579 broad.mit.edu 37 1 47407066 47407066 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:47407066C>A ENST00000310638.4 - 1 71 c.40G>T c.(40-42)Gat>Tat p.D14Y CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D14Y|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D14Y NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 14 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CCAGAGACATCACCCAGGAGT 0.597000 68 123 2.42712e-22 2.97979e-22 0.139131 1 0 DNAH11 8701 broad.mit.edu 37 7 21730396 21730396 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:21730396G>T ENST00000328843.6 + 36 5990 c.5959G>T c.(5959-5961)Ggg>Tgg p.G1987W DNAH11_ENST00000409508.3_Missense_Mutation_p.G1980W Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1987 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGTATTTCTTGGGGAAGCTAT 0.353000 Kartagener syndrome 112 166 8.58103e-55 1.29718e-54 0.139131 1 0 ENPP2 5168 broad.mit.edu 37 8 120602744 120602744 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:120602744C>A ENST00000427067.2 - 13 1376 c.e13+1 ENPP2_ENST00000522167.1_Splice_Site|ENPP2_ENST00000075322.6_Splice_Site|ENPP2_ENST00000259486.6_Splice_Site|ENPP2_ENST00000522826.1_Splice_Site Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AATCAACTTACATTTAGCATT 0.333000 29 39 7.38237e-10 8.02755e-10 0.116897 1 0 FLNC 2318 broad.mit.edu 37 7 128488080 128488080 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:128488080A>G ENST00000325888.8 + 26 4799 c.4538A>G c.(4537-4539)tAc>tGc p.Y1513C FLNC_ENST00000346177.6_Missense_Mutation_p.Y1513C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1513 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GACGGGCCCTACACGGTAGCC 0.667000 8 9 0 0 0.093190 0 0 IL3RA 3563 broad.mit.edu 37 X 1464240 1464240 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:1464240G>C ENST00000331035.4 + 3 445 c.96G>C c.(94-96)atG>atC p.M32I IL3RA_ENST00000381469.2_Intron NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 32 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACCTAAGGATGAAAGCAAAGG 0.443000 5 353 0 0 0.217242 0 0 ADAM29 11086 broad.mit.edu 37 4 175896743 175896743 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:175896743G>T ENST00000359240.3 + 5 737 c.67G>T c.(67-69)Gag>Tag p.E23* ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E23*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E23*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E23* NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 23 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CATCCAGGATGAGCACCCCCA 0.498000 63 20 7.55815e-43 1.08189e-42 0.139131 1 0 MUC17 140453 broad.mit.edu 37 7 100685698 100685698 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:100685698C>A ENST00000306151.4 + 3 11065 c.11001C>A c.(10999-11001)atC>atA p.I3667I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3667 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGATCACTTCTACCC 0.502000 86 138 4.47867e-22 5.43659e-22 0.139131 1 0 A1CF 29974 broad.mit.edu 37 10 52573752 52573752 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:52573752G>T ENST00000395489.2 - 12 1587 c.1191C>A c.(1189-1191)taC>taA p.Y397* A1CF_ENST00000373997.3_Nonsense_Mutation_p.Y396*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Y349*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Y404*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Nonsense_Mutation_p.Y396*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.Y404*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Nonsense_Mutation_p.Y404* NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 404 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCAGGCCTGTGTATGCCAAAT 0.483000 94 30 2.08528e-44 3.02506e-44 0.139131 1 0 RGL3 57139 broad.mit.edu 37 19 11510943 11510943 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:11510943T>C ENST00000380456.3 - 14 1578 c.1515A>G c.(1513-1515)ccA>ccG p.P505P RGL3_ENST00000393423.3_Silent_p.P505P NM_001035223.2|NM_001161616.1 NP_001030300.2|NP_001155088.1 Q3MIN7 RGL3_HUMAN ral guanine nucleotide dissociation stimulator-like 3 505 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1) 18 AGGAGGCAGCTGGTGGCTCAA 0.612000 44 83 0 0 0.139131 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817451 21817451 + RNA SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:21817451C>T ENST00000546471.1 - 0 1607 TCAATACTTACATCCAGCTTG 0.264000 16 7 0 0 0.132662 0 0 PLSCR5 389158 broad.mit.edu 37 3 146309588 146309588 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:146309588G>T ENST00000443512.1 - 5 1537 c.534C>A c.(532-534)atC>atA p.I178I PLSCR5_ENST00000492200.1_Silent_p.I178I|PLSCR5_ENST00000482567.1_Silent_p.I166I NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 178 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 TTGCATTTTGGATTGTGAATT 0.388000 61 26 2.22609e-26 2.83519e-26 0.139131 1 0 NGEF 25791 broad.mit.edu 37 2 233839522 233839522 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:233839522G>T ENST00000264051.3 - 2 357 c.79C>A c.(79-81)Cca>Aca p.P27T NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 27 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) ACCTTGGCTGGTTCATTATCA 0.443000 81 125 1.51875e-23 1.89332e-23 0.139131 1 0 MYCT1 80177 broad.mit.edu 37 6 153043144 153043144 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:153043144C>G ENST00000367245.5 + 2 472 c.464C>G c.(463-465)tCc>tGc p.S155C MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 155 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) CAAGCAAATTCCTTTCCAAGA 0.498000 76 121 0 0 0.139131 0 0 RGS6 9628 broad.mit.edu 37 14 72939588 72939588 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:72939588G>A ENST00000553530.1 + 9 752 c.545G>A c.(544-546)cGg>cAg p.R182Q RGS6_ENST00000556437.1_Missense_Mutation_p.R182Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R182Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R182Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R182Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R182Q|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Missense_Mutation_p.R182Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R43Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R182Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R182Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R113Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R182Q 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 6 182 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) AGGATTGACCGGAAAAAAGAC 0.448000 125 56 0 0 0.139131 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905948 144905948 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:144905948T>A ENST00000370490.1 + 1 6260 c.2005T>A c.(2005-2007)Tat>Aat p.Y669N SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y669N Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 669 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCAATTACAGTATGGGTCTTA 0.478000 85 15 0 0 0.139131 0 0 DACH2 117154 broad.mit.edu 37 X 85994839 85994839 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:85994839T>A ENST00000373131.1 + 6 1318 c.1155T>A c.(1153-1155)agT>agA p.S385R DACH2_ENST00000373125.4_Missense_Mutation_p.S398R|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.S231R|DACH2_ENST00000510272.1_Missense_Mutation_p.S179R NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CCAGCAGCAGTGTGTCCAGCT 0.468000 21 3 0 0 0.234183 0 0 POF1B 79983 broad.mit.edu 37 X 84634342 84634342 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:84634342G>T ENST00000262753.4 - 2 263 c.118C>A c.(118-120)Cag>Aag p.Q40K POF1B_ENST00000373145.3_Missense_Mutation_p.Q40K NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 40 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GGAGGCTGCTGGGCTTGGCTT 0.577000 34 4 3.21399e-22 3.9235e-22 0.214465 1 0 COL27A1 85301 broad.mit.edu 37 9 117050772 117050772 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:117050772C>A ENST00000356083.3 + 42 4416 c.4025C>A c.(4024-4026)cCt>cAt p.P1342H NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1342 Collagen-like 12.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GAGGGGCCCCCTGGGCCACCT 0.662000 7 13 0.00448238 0.00458152 0.047766 1 0 DCSTAMP 81501 broad.mit.edu 37 8 105361622 105361622 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:105361622C>G ENST00000297581.2 + 2 891 c.842C>G c.(841-843)cCg>cGg p.P281R DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 281 osteoclast differentiation cell surface|integral to membrane|plasma membrane GTCATCATCCCGACTTTCTGG 0.478000 110 127 0 0 0.139131 0 0 LPHN2 23266 broad.mit.edu 37 1 82409022 82409022 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:82409022A>G ENST00000370728.1 + 8 1412 c.767A>G c.(766-768)tAc>tGc p.Y256C LPHN2_ENST00000370715.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y256C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y256C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y260C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y256C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y256C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y256C O95490 LPHN2_HUMAN latrophilin 2 256 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACCTCACCATACAGATGGGGA 0.393000 60 88 0 0 0.139131 0 0 ZNF548 147694 broad.mit.edu 37 19 57910559 57910559 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:57910559G>T ENST00000366197.5 + 3 1154 c.904G>T c.(904-906)Gtt>Ttt p.V302F AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.V314F|AC003002.6_ENST00000600421.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACATCAGAGAGTTCACACCGG 0.458000 38 65 4.62619e-21 5.54286e-21 0.203993 1 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785317 22785317 + RNA SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:22785317G>T ENST00000600260.1 + 0 1493 NR_033899.1 AGAAACTGCAGGTGAGTGAGT 0.607000 12 13 0.00010058 0.00010412 0.093190 1 0 OR2T12 127064 broad.mit.edu 37 1 248458280 248458280 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:248458280A>T ENST00000317996.1 - 1 600 c.601T>A c.(601-603)Tgt>Agt p.C201S NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) ATTAACACACAGCAGATGTAC 0.542000 107 24 0 0 0.139131 0 0 DICER1 23405 broad.mit.edu 37 14 95595897 95595897 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:95595897G>A ENST00000526495.1 - 8 937 c.646C>T c.(646-648)Cca>Tca p.P216S DICER1_ENST00000343455.3_Missense_Mutation_p.P216S|DICER1_ENST00000541352.1_Missense_Mutation_p.P216S|DICER1_ENST00000393063.1_Missense_Mutation_p.P216S|DICER1_ENST00000527414.1_Missense_Mutation_p.P216S Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 216 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AATTCCTCTGGATCACATTTC 0.373000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 61 21 0 0 0.139131 0 0 CCNJL 79616 broad.mit.edu 37 5 159680601 159680601 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:159680601G>A ENST00000393977.3 - 7 1377 c.1092C>T c.(1090-1092)caC>caT p.H364H CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.H316H NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 364 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCCTGAACGGTGGGCCTGCA 0.662000 51 18 0 0 0.139131 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283758 33283758 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:33283758C>A ENST00000431845.2 - 2 1087 c.936G>T c.(934-936)ctG>ctT p.L312L ZBTB22_ENST00000418724.1_Silent_p.L312L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CTTGGGGAACCAGGGGTGTTG 0.567000 48 104 7.77372e-23 9.59847e-23 0.139131 1 0 LRRC16A 55604 broad.mit.edu 37 6 25420376 25420376 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:25420376C>T ENST00000329474.6 + 3 541 c.173C>T c.(172-174)gCg>gTg p.A58V LRRC16A_ENST00000377969.3_5'UTR NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 58 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CTTGTAACAGCGCGAATCCCC 0.483000 8 234 0 0 0.038147 0 0 FAM135B 51059 broad.mit.edu 37 8 139180143 139180143 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:139180143G>T ENST00000395297.1 - 12 1423 c.1253C>A c.(1252-1254)gCg>gAg p.A418E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 418 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAAACCTGTCGCAGGGCAGTC 0.507000 HNSCC(54;0.14) 91 114 1.37074e-43 1.97521e-43 0.139131 1 0 SYCP2L 221711 broad.mit.edu 37 6 10899058 10899058 + Splice_Site SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:10899058T>C ENST00000283141.6 + 6 739 c.441_splice c.e6-1 p.I148_splice SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 148 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TTTTGTTAGATTATTTCCAGG 0.289000 88 31 0 0 0.139131 0 0 PARP1 142 broad.mit.edu 37 1 226549218 226549218 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:226549218C>T ENST00000366794.5 - 23 3131 c.2988G>A c.(2986-2988)caG>caA p.Q996Q PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 996 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TCAGATTTACCTGAGCAATAT 0.473000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 50 6 0 0 0.139131 0 0 SLC24A4 123041 broad.mit.edu 37 14 92959954 92959954 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:92959954G>A ENST00000532405.1 + 17 2077 c.1851G>A c.(1849-1851)atG>atA p.M617I SLC24A4_ENST00000298877.1_Missense_Mutation_p.M600I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M553I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M581I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M598I Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 617 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) ACTTGCCGATGTGCCGGGAAG 0.562000 25 2 0 0 0.125774 0 0 CD22 933 broad.mit.edu 37 19 35828817 35828817 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:35828817C>T ENST00000085219.5 + 5 944 c.878C>T c.(877-879)aCg>aTg p.T293M CD22_ENST00000419549.2_Missense_Mutation_p.T121M|CD22_ENST00000594250.1_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.T293M|CD22_ENST00000536635.2_Missense_Mutation_p.T293M|CD22_ENST00000270311.6_Missense_Mutation_p.T173M NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 293 Ig-like C2-type 2. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AATACATTCACGCTAAACCTG 0.562000 32 48 0 0 0.134883 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519932 113519932 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:113519932T>C ENST00000284601.3 - 4 1283 c.1215A>G c.(1213-1215)tcA>tcG p.S405S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 405 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TAGTTTCCTCTGAAGGTTGAT 0.413000 186 203 0 0 0.139131 0 0 RAD23B 5887 broad.mit.edu 37 9 110086243 110086243 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:110086243C>T ENST00000358015.3 + 8 1241 c.890C>T c.(889-891)tCc>tTc p.S297F RAD23B_ENST00000416373.2_Missense_Mutation_p.S225F NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 297 STI1. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 CAGAATCCTTCCTTGCTTCCA 0.388000 Direct reversal of damage;Nucleotide excision repair (NER) 79 111 0 0 0.139131 0 0 COL6A5 256076 broad.mit.edu 37 3 130188184 130188184 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:130188184G>T ENST00000265379.6 + 38 7830 c.7336G>T c.(7336-7338)Ggc>Tgc p.G2446C COL6A5_ENST00000432398.2_Missense_Mutation_p.G2446C A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2446 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GTTTTCCTTTGGCCCTAAACA 0.443000 23 105 2.32416e-17 2.69004e-17 0.249174 1 0 NLRP2 55655 broad.mit.edu 37 19 55494535 55494535 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:55494535G>C ENST00000543010.1 + 6 1612 c.1469G>C c.(1468-1470)cGc>cCc p.R490P NLRP2_ENST00000538819.1_Missense_Mutation_p.R466P|NLRP2_ENST00000427260.2_Missense_Mutation_p.R467P|NLRP2_ENST00000339757.7_Missense_Mutation_p.R468P|NLRP2_ENST00000263437.6_Missense_Mutation_p.R487P|NLRP2_ENST00000537859.1_Missense_Mutation_p.R468P|NLRP2_ENST00000391721.4_Missense_Mutation_p.R466P|NLRP2_ENST00000448584.2_Missense_Mutation_p.R490P NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 490 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACATCCTCCGCCAGGACAGA 0.602000 49 77 0 0 0.139131 0 0 SNHG14 104472715 broad.mit.edu 37 15 25419978 25419978 + RNA SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:25419978C>A ENST00000549301.1 + 0 713 SNHG14_ENST00000441592.2_RNA gtttggggtccctgacttccc 0.507000 63 78 1.45723e-30 1.91243e-30 0.139131 1 0 POLR3B 55703 broad.mit.edu 37 12 106760311 106760311 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:106760311A>G ENST00000228347.4 + 3 345 c.123A>G c.(121-123)aaA>aaG p.K41K POLR3B_ENST00000539066.1_5'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 41 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GCCTTGTGAAACAGCATATAG 0.318000 45 44 0 0 0.139131 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43816732 43816732 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:43816732C>A ENST00000377564.3 + 6 1231 c.838C>A c.(838-840)Ctc>Atc p.L280I CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.L280I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 280 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CATCGAGCTCCTCGACACGCA 0.488000 31 85 4.40281e-34 5.94701e-34 0.246493 1 0 TMEM181 57583 broad.mit.edu 37 6 159052421 159052421 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:159052421G>T ENST00000367090.3 + 16 1771 c.1760_splice c.e16+1 p.G587_splice NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 587 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GTGATTTATGGGTAAGTCCCT 0.468000 81 127 1.32764e-51 1.993e-51 0.139131 1 0 RXFP2 122042 broad.mit.edu 37 13 32339279 32339279 + Splice_Site SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:32339279T>A ENST00000298386.2 + 4 496 c.425_splice c.e4+1 p.L142_splice RXFP2_ENST00000380314.1_Splice_Site_p.L142_splice NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 142 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GTGACATTACTGTGAGTAAAA 0.343000 38 12 0 0 0.203993 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601279 55601279 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:55601279T>C ENST00000457326.2 + 1 696 c.611T>C c.(610-612)aTg>aCg p.M204T LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 204 EF-hand 3. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 GATGGAGATATGGATTTTAAC 0.478000 198 66 0 0 0.139131 0 0 UTRN 7402 broad.mit.edu 37 6 144843114 144843114 + Splice_Site SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:144843114A>G ENST00000367545.3 + 39 5541 c.e39-1 NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGTTTTTGTAGGCAATCCCT 0.289000 3 150 0 0 0.150653 0 0 FGD4 121512 broad.mit.edu 37 12 32735204 32735204 + Missense_Mutation SNP A A G rs139620944 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:32735204A>G ENST00000427716.2 + 4 827 c.403A>G c.(403-405)Act>Gct p.T135A FGD4_ENST00000534526.2_Missense_Mutation_p.T272A|FGD4_ENST00000531134.1_Missense_Mutation_p.T220A|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.T247A|FGD4_ENST00000472289.1_Missense_Mutation_p.T135A|FGD4_ENST00000546442.1_Missense_Mutation_p.T42A NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 135 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AAGAGATGAAACTGCCACAGC 0.493000 38 94 0 0 0.139131 0 0 OR51F1 256892 broad.mit.edu 37 11 4790409 4790409 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:4790409C>A ENST00000380383.1 - 1 759 c.760G>T c.(760-762)Gtg>Ttg p.V254L MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V247L|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 247 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) ACTGCTCCCACATGGGAGACA 0.488000 49 23 4.10826e-27 5.2739e-27 0.139131 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90503213 90503213 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:90503213C>A ENST00000325643.5 + 4 3877 c.3811C>A c.(3811-3813)Cca>Aca p.P1271T NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CAGTCACCATCCACAGGGTCT 0.542000 31 73 1.08312e-15 1.2316e-15 0.144211 1 0 MUC4 4585 broad.mit.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:195505814C>T ENST00000463781.3 - 2 13096 c.12637G>A c.(12637-12639)Gac>Aac p.D4213N MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213N(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGTGTCGGTGACAGGA 0.597000 4 26 0 0 0.184627 0 0 TNC 3371 broad.mit.edu 37 9 117793913 117793913 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:117793913G>T ENST00000350763.4 - 23 6250 c.5839C>A c.(5839-5841)Cca>Aca p.P1947T TNC_ENST00000423613.2_Missense_Mutation_p.P1674T|TNC_ENST00000345230.3_Missense_Mutation_p.P1310T|TNC_ENST00000346706.3_Missense_Mutation_p.P1401T|TNC_ENST00000341037.4_Missense_Mutation_p.P1765T|TNC_ENST00000340094.3_Missense_Mutation_p.P1583T|TNC_ENST00000537320.1_Missense_Mutation_p.P1310T|TNC_ENST00000535648.1_Missense_Mutation_p.P1492T|TNC_ENST00000542877.1_Missense_Mutation_p.P1584T NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1947 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TGGGTGGATGGGCTCAGGTCT 0.512000 78 117 2.72187e-29 3.55767e-29 0.139131 1 0 SPATA5 166378 broad.mit.edu 37 4 123868598 123868598 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:123868598C>T ENST00000274008.3 + 9 1738 c.1669C>T c.(1669-1671)Cat>Tat p.H557Y SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 557 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AAATAGTGCTCATGGATACGT 0.478000 70 26 0 0 0.139131 0 0 ACAN 176 broad.mit.edu 37 15 89388786 89388786 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:89388786G>A ENST00000439576.2 + 7 1476 c.1102G>A c.(1102-1104)Gag>Aag p.E368K ACAN_ENST00000561243.1_Missense_Mutation_p.E368K|ACAN_ENST00000559004.1_Missense_Mutation_p.E368K|ACAN_ENST00000558207.1_Missense_Mutation_p.E368K|ACAN_ENST00000352105.7_Missense_Mutation_p.E368K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 368 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGGGGGTGAGGAGGACATCAC 0.572000 28 38 0 0 0.108266 0 0 DMRTC2 63946 broad.mit.edu 37 19 42352590 42352590 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:42352590C>A ENST00000269945.3 + 4 492 c.441C>A c.(439-441)ccC>ccA p.P147P DMRTC2_ENST00000596827.1_Silent_p.P147P|DMRTC2_ENST00000602098.1_3'UTR NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 147 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CGACACCCCCCGGGAAGGTAA 0.607000 6 22 8.12818e-05 8.42778e-05 0.248553 1 0 ANKS1B 56899 broad.mit.edu 37 12 99548223 99548223 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:99548223G>T ENST00000550693.2 - 1 301 c.48C>A c.(46-48)ccC>ccA p.P16P ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000546960.1_Silent_p.P16P|ANKS1B_ENST00000546568.1_Silent_p.P16P|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Silent_p.P16P|ANKS1B_ENST00000549493.2_Silent_p.P16P|ANKS1B_ENST00000332712.7_Silent_p.P16P|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron NM_001204069.1|NM_001204070.1 NP_001190998.1|NP_001190999.1 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 0 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AGCCGTCCACGGGGTAATAGC 0.537000 44 41 7.88023e-25 9.95803e-25 0.139131 1 0 AMIGO3 386724 broad.mit.edu 37 3 49755619 49755619 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:49755619T>G ENST00000535833.1 - 10 4730 c.1280A>C c.(1279-1281)cAa>cCa p.Q427P RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q427P Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 427 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCAGCTCTTGGAGCGGGCT 0.682000 74 27 0 0 0.139131 0 0 OR5M10 390167 broad.mit.edu 37 11 56344286 56344286 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:56344286C>T ENST00000526812.2 - 1 977 c.912G>A c.(910-912)atG>atA p.M304I NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TTCCCCTAATCATTTGTTGTA 0.373000 159 217 0 0 0.139131 0 0 OR4K1 79544 broad.mit.edu 37 14 20403895 20403895 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:20403895C>T ENST00000285600.4 + 1 129 c.70C>T c.(70-72)Caa>Taa p.Q24* NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTGGGGACTTCAACTTTTCTT 0.358000 196 326 0 0 0.139131 0 0 ZEB2 9839 broad.mit.edu 37 2 145147422 145147422 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:145147422A>G ENST00000558170.2 - 10 4425 c.3241T>C c.(3241-3243)Tgc>Cgc p.C1081R ZEB2_ENST00000539609.3_Missense_Mutation_p.C1057R|ZEB2_ENST00000303660.4_Missense_Mutation_p.C1081R|ZEB2_ENST00000409487.3_Missense_Mutation_p.C1081R NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1081 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCCGCTTGCAGTAGGAATAC 0.602000 47 73 0 0 0.139131 0 0 OR10K2 391107 broad.mit.edu 37 1 158389859 158389859 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:158389859G>A ENST00000314902.2 - 1 797 c.798C>T c.(796-798)taC>taT p.Y266Y NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GGCTTGAGGAGTAGTTGGACT 0.398000 133 20 0 0 0.139131 0 0 WDR45 11152 broad.mit.edu 37 X 48933527 48933527 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:48933527C>G ENST00000356463.3 - 8 955 c.517G>C c.(517-519)Gtg>Ctg p.V173L WDR45_ENST00000485908.1_Missense_Mutation_p.V137L|WDR45_ENST00000553851.1_Missense_Mutation_p.V70L|WDR45_ENST00000473974.1_Missense_Mutation_p.V172L|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.V172L|WDR45_ENST00000376358.3_Missense_Mutation_p.V70L|WDR45_ENST00000376368.2_Missense_Mutation_p.V173L|WDR45_ENST00000376372.3_Missense_Mutation_p.V172L|WDR45_ENST00000322995.8_Missense_Mutation_p.V183L NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 172 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 CGGCTCACCACAAGTTGCAGA 0.597000 31 3 0 0 0.183431 0 0 MUC3A 4584 broad.mit.edu 37 7 100551579 100551579 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:100551579T>C ENST00000319509.7 + 1 330 c.330T>C c.(328-330)atT>atC p.I110I mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CCCTCAGAATTACTGAGAACA 0.493000 186 318 0 0 0.139131 0 0 WDFY1 57590 broad.mit.edu 37 2 224765920 224765920 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:224765920C>T ENST00000233055.4 - 5 567 c.465G>A c.(463-465)acG>acA p.T155T NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 155 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) AAGCCCAGGACGTGAAGAAGT 0.577000 50 75 0 0 0.139131 0 0 PLG 5340 broad.mit.edu 37 6 161173182 161173182 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:161173182C>A ENST00000308192.9 + 18 2224 c.2161C>A c.(2161-2163)Ctc>Atc p.L721I NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 721 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGAAGCCCAGCTCCCTGTGAT 0.468000 49 65 5.73435e-26 7.28905e-26 0.139131 1 0 ANKRD24 170961 broad.mit.edu 37 19 4200161 4200161 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:4200161C>T ENST00000600132.1 + 5 612 c.336C>T c.(334-336)gaC>gaT p.D112D ANKRD24_ENST00000262970.5_Silent_p.D202D|ANKRD24_ENST00000318934.4_Silent_p.D112D NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 112 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGAGCGCGGACGGGGCAGGTA 0.652000 3 17 0 0 0.115264 0 0 KCNV1 27012 broad.mit.edu 37 8 110984922 110984922 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110984922G>T ENST00000524391.1 - 3 1588 c.556C>A c.(556-558)Caa>Aaa p.Q186K KCNV1_ENST00000297404.1_Missense_Mutation_p.Q186K Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 186 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity p.Q186K(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) CAAGGTCCTTGGGAGAAGTCC 0.458000 61 98 1.45723e-30 1.91243e-30 0.139131 1 0 TTN 7273 broad.mit.edu 37 2 179470333 179470333 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:179470333A>G ENST00000589042.1 - 279 53913 c.53689T>C c.(53689-53691)Tat>Cat p.Y17897H TTN_ENST00000359218.5_Missense_Mutation_p.Y8957H|TTN_ENST00000342992.6_Missense_Mutation_p.Y15329H|TTN_ENST00000342175.6_Missense_Mutation_p.Y9024H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y16256H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y8832H|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16256 Fibronectin type-III 29. 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) TCAATGATATATCCTTGGATG 0.443000 76 133 0 0 0.139131 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 4 121 0 0 0.150653 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966370 23966370 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:23966370C>T ENST00000335694.4 - 5 669 c.465G>A c.(463-465)gtG>gtA p.V155V GGTLC1_ENST00000286890.4_Silent_p.V155V|GGTLC1_ENST00000278765.4_Silent_p.V155V NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 155 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GGGGCTCCTCCACGGCCCACT 0.607000 161 125 0 0 0.139131 0 0 MIR30D 407033 broad.mit.edu 37 8 135817170 135817170 + RNA SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:135817170C>A ENST00000362283.1 - 0 18 NR_029599.1 AGCTTCCAGTCGGGGATGTTT 0.398000 84 118 8.2577e-42 1.17941e-41 0.139131 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961161 73961161 + Silent SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:73961161A>G ENST00000373468.1 - 3 3882 c.3231T>C c.(3229-3231)ccT>ccC p.P1077P KIAA2022_ENST00000055682.5_Silent_p.P1077P Q5QGS0 K2022_HUMAN KIAA2022 1077 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GGGAAAGACTAGGGGTGTCCG 0.502000 102 34 0 0 0.139131 0 0 SLIT2 9353 broad.mit.edu 37 4 20555507 20555507 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:20555507C>T ENST00000504154.1 + 26 2893 c.2641C>T c.(2641-2643)Cct>Tct p.P881S SLIT2_ENST00000503837.1_Missense_Mutation_p.P877S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P873S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P885S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 881 LRRCT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATATAAGGAGCCTGGAATTGC 0.428000 98 12 0 0 0.139131 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110402680 110402680 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:110402680G>T ENST00000378402.5 + 9 801 c.e9-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTAAATTCCAGGTCATCACAA 0.274000 HNSCC(38;0.096) 4 7 0.184627 0.186355 0.184627 1 0 NIPBL 25836 broad.mit.edu 37 5 37064663 37064663 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:37064663C>T ENST00000282516.8 + 47 8583 c.8084C>T c.(8083-8085)aCg>aTg p.T2695M NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2695 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCAGACTCTACGGAGTTGGCA 0.393000 107 240 0 0 0.139131 0 0 IGLV1-50 28821 broad.mit.edu 37 22 22681963 22681963 + RNA SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr22:22681963G>T ENST00000390291.2 + 0 196 CTCCAACATTGGGGCGGGTTA 0.612000 435 57 2.53071e-192 3.94547e-192 0.139131 1 0 RYR1 6261 broad.mit.edu 37 19 38934789 38934789 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:38934789G>A ENST00000355481.4 + 6 556 c.424_splice c.e6-1 p.G142_splice RYR1_ENST00000360985.3_Splice_Site_p.G142_splice|RYR1_ENST00000359596.3_Splice_Site_p.G142_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 142 MIR 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCACCCATAGGAGAGGCTTGC 0.612000 20 34 0 0 0.204396 0 0 FCHO1 23149 broad.mit.edu 37 19 17886888 17886888 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:17886888G>T ENST00000594202.1 + 16 1379 c.1100G>T c.(1099-1101)cGg>cTg p.R367L FCHO1_ENST00000596536.1_Missense_Mutation_p.R367L|FCHO1_ENST00000252771.7_Missense_Mutation_p.R367L|FCHO1_ENST00000600676.1_Missense_Mutation_p.R367L|FCHO1_ENST00000595033.1_Missense_Mutation_p.R317L|FCHO1_ENST00000597512.1_Missense_Mutation_p.R374L|FCHO1_ENST00000389133.4_Missense_Mutation_p.R367L|FCHO1_ENST00000596951.1_Missense_Mutation_p.R367L|FCHO1_ENST00000539407.1_Missense_Mutation_p.R367L NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 367 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 GCCCCGGCCCGGGCTCCAGCC 0.697000 56 63 8.77104e-35 1.1922e-34 0.139131 1 0 OR4C3 256144 broad.mit.edu 37 11 48347133 48347133 + Missense_Mutation SNP G G T rs139158085 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:48347133G>T ENST00000319856.4 + 1 662 c.641G>T c.(640-642)tGc>tTc p.C214F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GAAGTTGCCTGCACCAATACG 0.502000 60 91 2.44813e-32 3.25245e-32 0.139131 1 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032693 46032693 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr21:46032693C>T ENST00000334662.2 + 1 698 c.676C>T c.(676-678)Ccc>Tcc p.P226S TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 226 19 X 5 AA repeats of C-C-X(3). keratin filament p.P226S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 tgtgcctgtcccctcctgttg 0.716000 62 73 0 0 0.139131 0 0 GPATCH8 23131 broad.mit.edu 37 17 42476285 42476285 + Nonsense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:42476285T>A ENST00000434000.1 - 9 3208 c.2926A>T c.(2926-2928)Aga>Tga p.R976* GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R1054* Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1054 Ser-rich. 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) TCATCTCCTCTGCCATCATCT 0.537000 55 65 0 0 0.139131 0 0 TTN 7273 broad.mit.edu 37 2 179583155 179583155 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:179583155G>T ENST00000589042.1 - 85 24902 c.24678C>A c.(24676-24678)acC>acA p.T8226T TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T6982T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T7909T|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7909 Ig-like 64. 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) TTTCCAGTATGGTAGATTTTT 0.418000 49 62 2.13384e-23 2.64989e-23 0.139131 1 0 KIF1C 10749 broad.mit.edu 37 17 4908161 4908161 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:4908161G>A ENST00000320785.5 + 13 1388 c.1031G>A c.(1030-1032)cGc>cAc p.R344H NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 344 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity p.R344H(1) NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TATGCTGACCGCACCAAGCAA 0.612000 4 222 0 0 0.184627 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723683 140723683 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:140723683C>G ENST00000253812.6 + 1 83 c.83C>G c.(82-84)tCc>tGc p.S28C PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.S28Y(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAACAGGATCCGGTCAGATC 0.587000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 194 70 0 0 0.139131 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603501 101603501 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:101603501G>A ENST00000536262.2 - 1 684 c.126C>T c.(124-126)tcC>tcT p.S42S NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 42 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GGAAGTCCTTGGAGGTCTGCT 0.657000 25 38 0 0 0.099896 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104478565 104478565 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:104478565G>A ENST00000372582.1 + 4 1176 c.420G>A c.(418-420)ctG>ctA p.L140L IL1RAPL2_ENST00000344799.4_Silent_p.L140L NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 140 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AATCAGGCCTGTGCTACAACA 0.403000 152 39 0 0 0.139131 0 0 CATSPERD 257062 broad.mit.edu 37 19 5727297 5727297 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:5727297C>A ENST00000381624.3 + 3 206 c.145C>A c.(145-147)Cct>Act p.P49T CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 49 integral to membrane GTATTTTCATCCTACAACAAC 0.308000 61 76 9.04393e-38 1.25567e-37 0.139131 1 0 ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T T C rs141931104 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:144060770T>C ENST00000056217.5 + 2 1182 c.1008T>C c.(1006-1008)aaT>aaC p.N336N NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 336 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.N336N(5) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CAGAAGAGAATAGGGCGGACT 0.512000 3 172 0 0 0.150653 0 0 POM121L12 285877 broad.mit.edu 37 7 53103882 53103882 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:53103882G>T ENST00000408890.4 + 1 534 c.518G>T c.(517-519)tGc>tTc p.C173F NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 173 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CTGGACCCCTGCACCCGGGAG 0.716000 21 28 6.21321e-17 7.17848e-17 0.264190 1 0 PLXNA4 91584 broad.mit.edu 37 7 131853075 131853075 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:131853075A>T ENST00000359827.3 - 22 5236 c.4274T>A c.(4273-4275)cTg>cAg p.L1425Q PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1425Q Q9HCM2 PLXA4_HUMAN plexin A4 1425 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCTGAGCAGCAGCTTAGGGTG 0.612000 9 13 0 0 0.047766 0 0 MED12L 116931 broad.mit.edu 37 3 151129183 151129183 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:151129183G>A ENST00000474524.1 + 39 5961 c.5923G>A c.(5923-5925)Gca>Aca p.A1975T MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1975 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTATCCGGCCGCACATTCCAA 0.572000 6 393 0 0 0.248553 0 0 TLN1 7094 broad.mit.edu 37 9 35717418 35717418 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:35717418C>A ENST00000314888.9 - 19 2536 c.2183G>T c.(2182-2184)aGc>aTc p.S728I TLN1_ENST00000540444.1_Missense_Mutation_p.S728I NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 728 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GACAGGTGAGCTGATTGTAGG 0.557000 68 25 9.53695e-23 1.17308e-22 0.139131 1 0 ZFAT 57623 broad.mit.edu 37 8 135612791 135612791 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:135612791T>C ENST00000520727.1 - 8 2626 c.2327A>G c.(2326-2328)cAc>cGc p.H776R ZFAT_ENST00000520356.1_Missense_Mutation_p.H776R|ZFAT_ENST00000520214.1_Missense_Mutation_p.H776R|ZFAT_ENST00000429442.2_Missense_Mutation_p.H776R|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.H726R|ZFAT_ENST00000377838.3_Missense_Mutation_p.H788R NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 788 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTGAATTACGTGGCGTTTAAG 0.428000 90 151 0 0 0.139131 0 0 C8B 732 broad.mit.edu 37 1 57425761 57425761 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:57425761T>A ENST00000543257.1 - 3 591 c.25A>T c.(25-27)Atg>Ttg p.M9L C8B_ENST00000371237.4_Missense_Mutation_p.M61L|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 61 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TCAATGGGCATCAGGGTAACA 0.488000 58 83 0 0 0.139131 0 0 EPS15L1 58513 broad.mit.edu 37 19 16532206 16532206 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:16532206C>A ENST00000602009.1 - 4 1307 c.412G>T c.(412-414)Ggc>Tgc p.G138C EPS15L1_ENST00000455140.2_Missense_Mutation_p.G292C|EPS15L1_ENST00000248070.6_Missense_Mutation_p.G292C|EPS15L1_ENST00000594975.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000597937.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000535753.2_Missense_Mutation_p.G292C Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 292 EH 2. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CTCACGTAGCCATCCAGGTCC 0.537000 57 58 3.16986e-14 3.573e-14 0.139131 1 0 DNAH8 1769 broad.mit.edu 37 6 38840416 38840416 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:38840416C>T ENST00000359357.3 + 48 6698 c.6444C>T c.(6442-6444)tgC>tgT p.C2148C DNAH8_ENST00000441566.1_Silent_p.C2112C|DNAH8_ENST00000449981.2_Silent_p.C2365C dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAACAGAATGCGGAAGGCCTC 0.483000 66 106 0 0 0.139131 0 0 PRDM9 56979 broad.mit.edu 37 5 23526959 23526959 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:23526959G>C ENST00000296682.3 + 11 1944 c.1762G>C c.(1762-1764)Ggc>Cgc p.G588R NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 588 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GTGTGGGCGGGGCTTTAGCTG 0.607000 HNSCC(3;0.000094) 46 157 0 0 0.139131 0 0 SORCS1 114815 broad.mit.edu 37 10 108427560 108427560 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:108427560G>T ENST00000263054.6 - 17 2197 c.2189_splice c.e17-1 p.C730_splice SORCS1_ENST00000369698.1_Splice_Site_p.C265_splice|SORCS1_ENST00000344440.6_Splice_Site_p.C730_splice NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 730 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AACCATAGTCGCTGTTAGGAA 0.453000 21 4 2.32416e-17 2.69004e-17 0.249174 1 0 ZNF493 284443 broad.mit.edu 37 19 21607279 21607279 + Silent SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:21607279T>C ENST00000392288.2 + 4 1927 c.1818T>C c.(1816-1818)tgT>tgC p.C606C ZNF493_ENST00000355504.4_Silent_p.C478C|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GTGAAGAATGTGGCAAAGCTT 0.333000 25 39 0 0 0.264190 0 0 TCF7 6932 broad.mit.edu 37 5 133481891 133481891 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:133481891G>T ENST00000378560.4 + 10 900 c.e10-1 TCF7_ENST00000321603.6_Splice_Site|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000520958.1_Intron|TCF7_ENST00000342854.5_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000395029.1_Intron NM_201634.3 NP_963965.1 P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTGTTTACAGATAACTCTCT 0.502000 OREG0016787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 33 1.63549e-45 2.38862e-45 0.139131 1 0 PHF21A 51317 broad.mit.edu 37 11 45970965 45970965 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:45970965G>A ENST00000257821.4 - 12 1838 c.1215C>T c.(1213-1215)gtC>gtT p.V405V PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Silent_p.V405V|PHF21A_ENST00000418153.2_Silent_p.V404V NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 404 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CTGGCTCAAAGACTGCTCCAC 0.458000 103 540 0 0 0.139131 0 0 CCDC57 284001 broad.mit.edu 37 17 80159756 80159756 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:80159756C>T ENST00000392347.1 - 2 101 c.65G>A c.(64-66)aGg>aAg p.R22K CCDC57_ENST00000392343.3_Missense_Mutation_p.R22K|CCDC57_ENST00000389641.4_Missense_Mutation_p.R22K NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 22 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTGCAGCGCCCTCCACTCCTC 0.657000 13 34 0 0 0.083992 0 0 RHPN2 85415 broad.mit.edu 37 19 33482784 33482784 + Nonsense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:33482784A>T ENST00000254260.3 - 13 1624 c.1589T>A c.(1588-1590)tTg>tAg p.L530* RHPN2_ENST00000400226.4_Nonsense_Mutation_p.L379* NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 530 PDZ. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GTTCCCTCTCAAGGTGAACCC 0.537000 46 90 0 0 0.131918 0 0 SHANK2 22941 broad.mit.edu 37 11 70333064 70333064 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:70333064C>A ENST00000338508.4 - 32 3336 c.3337G>T c.(3337-3339)Gtg>Ttg p.V1113L SHANK2_ENST00000409161.1_Missense_Mutation_p.V516L|SHANK2_ENST00000423696.2_Missense_Mutation_p.V733L|SHANK2_ENST00000449833.2_Missense_Mutation_p.V517L Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 733 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) CCCAGGCCCACATCCTCATCC 0.692000 38 846 5.43694e-19 6.40746e-19 0.225048 1 0 TRIM47 91107 broad.mit.edu 37 17 73871028 73871028 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:73871028C>A ENST00000254816.2 - 6 1479 c.1453G>T c.(1453-1455)Gag>Tag p.E485* TRIM47_ENST00000587339.1_Nonsense_Mutation_p.E247* NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 485 B30.2/SPRY. cytoplasm|nucleus zinc ion binding autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) ATCTCCACCTCCCAGTAGTAG 0.647000 50 68 5.39261e-20 6.39015e-20 0.139131 1 0 LAMA4 3910 broad.mit.edu 37 6 112443312 112443312 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:112443312G>A ENST00000230538.7 - 32 4777 c.4380C>T c.(4378-4380)tcC>tcT p.S1460S LAMA4_ENST00000389463.4_Silent_p.S1453S|LAMA4_ENST00000424408.2_Silent_p.S1453S|LAMA4_ENST00000522006.1_Silent_p.S1453S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1460 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TAGGGCTGTTGGAAAGGTGGC 0.453000 80 115 0 0 0.139131 0 0 DDX28 55794 broad.mit.edu 37 16 68056395 68056395 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:68056395C>A ENST00000332395.5 - 1 1375 c.711G>T c.(709-711)ctG>ctT p.L237L NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 237 Helicase ATP-binding. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) GGCCTCCCTCCAGGTCCCGCA 0.657000 30 8 7.68411e-24 9.61629e-24 0.134883 1 0 DOCK10 55619 broad.mit.edu 37 2 225659685 225659685 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:225659685C>T ENST00000409592.3 - 45 5160 c.5047G>A c.(5047-5049)Gca>Aca p.A1683T DOCK10_ENST00000258390.7_Missense_Mutation_p.A1689T Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1689 DHR-2. GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TAGGAGTTTGCCAGGCTGTAC 0.517000 5 275 0 0 0.184627 0 0 FRG2B 441581 broad.mit.edu 37 10 135438990 135438990 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:135438990C>T ENST00000443774.1 - 4 502 c.453G>A c.(451-453)agG>agA p.R151R FRG2B_ENST00000425520.1_Silent_p.R150R Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 150 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CAGTGCAAGCCCTGGAACGTC 0.527000 11 178 0 0 0.219247 0 0 MGAM 8972 broad.mit.edu 37 7 141803074 141803074 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:141803074G>A ENST00000475668.2 + 70 8073 c.8019G>A c.(8017-8019)acG>acA p.T2673T MGAM_ENST00000549489.2_Silent_p.T1777T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1777 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AACAGAATACGATGCAAAGCC 0.348000 13 12 0 0 0.105934 0 0 ZNF582 147948 broad.mit.edu 37 19 56895725 56895725 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:56895725A>G ENST00000301310.4 - 5 1219 c.1061T>C c.(1060-1062)cTt>cCt p.L354P ZNF582_ENST00000586929.1_Missense_Mutation_p.L354P NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) ATGTCGTATAAGAGTTGAGCC 0.418000 105 135 0 0 0.139131 0 0 BRINP1 1620 broad.mit.edu 37 9 121930238 121930238 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:121930238C>T ENST00000265922.3 - 8 1871 c.1410G>A c.(1408-1410)cgG>cgA p.R470R DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 470 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 ACTGCTCGCTCCGCTCCGAGT 0.582000 29 62 0 0 0.125774 0 0 VPS13C 54832 broad.mit.edu 37 15 62312738 62312738 + Splice_Site SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:62312738C>A ENST00000261517.5 - 9 698 c.e9-1 VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GATCAGTGACCTACCAAAGAA 0.403000 37 45 8.69298e-16 9.93703e-16 0.246493 1 0 FOLH1 2346 broad.mit.edu 37 11 49207359 49207359 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:49207359C>G ENST00000340334.7 - 7 1011 c.643G>C c.(643-645)Gac>Cac p.D215H FOLH1_ENST00000256999.2_Missense_Mutation_p.D230H|FOLH1_ENST00000533034.1_Missense_Mutation_p.D215H|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.D230H NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 230 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TCAGCAGGGTCGGAGTAGAGA 0.458000 28 53 0 0 0.108266 0 0 SLC11A2 4891 broad.mit.edu 37 12 51388355 51388355 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:51388355G>C ENST00000394904.3 - 11 1185 c.1136C>G c.(1135-1137)tCg>tGg p.S379W SLC11A2_ENST00000262051.7_Missense_Mutation_p.S350W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S350W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S346W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S350W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.S350W|SLC11A2_ENST00000546743.1_Missense_Mutation_p.S271W|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S379W NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 350 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 AGCCAGTGTCGAGTTATCTTT 0.403000 57 95 0 0 0.139131 0 0 IARS 3376 broad.mit.edu 37 9 95050422 95050422 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:95050422G>T ENST00000375643.3 - 3 528 c.262C>A c.(262-264)Cat>Aat p.H88N IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Missense_Mutation_p.H88N NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 88 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) GGTAAGCCATGGCAATCCCAT 0.333000 62 71 9.4991e-31 1.25171e-30 0.139131 1 0 ARID3B 10620 broad.mit.edu 37 15 74865224 74865224 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:74865224G>A ENST00000346246.5 + 3 805 c.574G>A c.(574-576)Gat>Aat p.D192N NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 GGCCTGGAGTGATGATGCAGA 0.473000 35 79 0 0 0.225048 0 0 AGAP3 116988 broad.mit.edu 37 7 150837179 150837179 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:150837179G>A ENST00000397238.2 + 13 1780 c.1780G>A c.(1780-1782)Gac>Aac p.D594N AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 558 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CCCCCGACCAGACGGCCCCAG 0.607000 11 20 0 0 0.080935 0 0 NSUN3 63899 broad.mit.edu 37 3 93783304 93783304 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:93783304G>T ENST00000314622.4 + 2 247 c.36G>T c.(34-36)aaG>aaT p.K12N NSUN3_ENST00000485793.1_3'UTR NM_022072.3 NP_071355.1 Q9H649 NSUN3_HUMAN NOP2/Sun domain family, member 3 12 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 18 CAGAGGGGAAGCTTGCAAAAC 0.358000 30 105 2.81731e-10 3.0895e-10 0.153744 1 0 EPHA6 285220 broad.mit.edu 37 3 96706794 96706794 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:96706794C>T ENST00000389672.5 + 3 1109 c.1071C>T c.(1069-1071)tgC>tgT p.C357C EPHA6_ENST00000542517.1_Silent_p.C263C|EPHA6_ENST00000470610.2_Silent_p.C357C NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 262 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TTGGAAGGTGCATCTGCAGTA 0.383000 57 207 0 0 0.139131 0 0 FBXL7 23194 broad.mit.edu 37 5 15936859 15936859 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:15936859A>T ENST00000504595.1 + 4 1521 c.1040A>T c.(1039-1041)aAg>aTg p.K347M FBXL7_ENST00000329673.7_Missense_Mutation_p.K335M|FBXL7_ENST00000510662.1_Missense_Mutation_p.K300M NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 347 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GAGATCGCCAAGCTGGAGTCC 0.657000 22 12 0 0 0.108266 0 0 GABRA2 2555 broad.mit.edu 37 4 46252334 46252334 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:46252334G>A ENST00000510861.1 - 10 1520 c.1347C>T c.(1345-1347)gtC>gtT p.V449V GABRA2_ENST00000514090.1_Silent_p.V449V|GABRA2_ENST00000381620.4_Silent_p.V449V|GABRA2_ENST00000356504.1_Silent_p.V449V|GABRA2_ENST00000540012.1_Silent_p.V454V|GABRA2_ENST00000507069.1_Silent_p.V509V P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 449 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.V449V(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCAAGGACTGACCCCTAATA 0.338000 70 23 0 0 0.139131 0 0 PON2 5445 broad.mit.edu 37 7 95034735 95034735 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:95034735C>T ENST00000536183.1 - 9 1218 c.1035G>A c.(1033-1035)ggG>ggA p.G345G PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Silent_p.G312G|PON2_ENST00000222572.3_Silent_p.G324G NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 324 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) GGAGAACAGACCCATTGTTGG 0.423000 57 92 0 0 0.139131 0 0 DIS3L2 129563 broad.mit.edu 37 2 233198642 233198642 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:233198642G>A ENST00000325385.7 + 17 2379 c.2103G>A c.(2101-2103)tcG>tcA p.S701S DIS3L2_ENST00000409307.1_Silent_p.S701S|DIS3L2_ENST00000273009.6_Intron NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 701 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) ACTTCACCTCGCCCATCCGCC 0.667000 58 97 0 0 0.139131 0 0 SLC24A5 283652 broad.mit.edu 37 15 48428997 48428997 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:48428997C>A ENST00000341459.3 + 6 781 c.708C>A c.(706-708)gcC>gcA p.A236A SLC24A5_ENST00000449382.2_Silent_p.A176A NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 236 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CCTGTCTTGCCAAAGCTATGG 0.388000 28 36 4.7796e-09 5.16261e-09 0.099896 1 0 NLRP10 338322 broad.mit.edu 37 11 7982797 7982797 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:7982797T>C ENST00000328600.2 - 2 523 c.362A>G c.(361-363)tAc>tGc p.Y121C NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 121 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CACCTGGTTGTATCTGCCATT 0.557000 50 31 0 0 0.139131 0 0 RYR2 6262 broad.mit.edu 37 1 237711879 237711879 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237711879G>T ENST00000366574.2 + 26 3372 c.3055G>T c.(3055-3057)Ggc>Tgc p.G1019C RYR2_ENST00000542537.1_Missense_Mutation_p.G1003C|RYR2_ENST00000360064.6_Missense_Mutation_p.G1017C NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1019 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTGGACTTATGGCATCCAACA 0.428000 43 11 6.5261e-18 7.62164e-18 0.268233 1 0 TXLNB 167838 broad.mit.edu 37 6 139576740 139576740 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:139576740C>T ENST00000358430.3 - 7 1270 c.1038G>A c.(1036-1038)gcG>gcA p.A346A NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 346 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TCAGCACTTTCGCCTGAAGTT 0.512000 61 80 0 0 0.139131 0 0 CEP97 79598 broad.mit.edu 37 3 101477063 101477063 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:101477063C>G ENST00000341893.3 + 9 2365 c.1613C>G c.(1612-1614)cCc>cGc p.P538R CEP97_ENST00000327230.4_Missense_Mutation_p.P538R|CEP97_ENST00000494050.1_Missense_Mutation_p.P479R Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 538 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GAGAAACTTCCCATGATTTTA 0.418000 90 349 0 0 0.139131 0 0 MIR520B 574473 broad.mit.edu 37 19 54204540 54204540 + RNA SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:54204540G>T ENST00000384989.1 + 0 60 NR_030195.1 CCTTTTAGAGGGTTACCGTTT 0.443000 34 41 3.86903e-22 4.71424e-22 0.173368 1 0 EFR3A 23167 broad.mit.edu 37 8 132971846 132971846 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:132971846A>G ENST00000254624.5 + 8 1016 c.791A>G c.(790-792)cAc>cGc p.H264R EFR3A_ENST00000519656.1_Missense_Mutation_p.H228R|EFR3A_ENST00000334503.4_Missense_Mutation_p.H264R NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 264 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTAGATCATCACAAACTGTGG 0.279000 40 69 0 0 0.131918 0 0 WIZ 58525 broad.mit.edu 37 19 15558935 15558935 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:15558935C>A ENST00000389282.4 - 2 397 c.184G>T c.(184-186)Gat>Tat p.D62Y WIZ_ENST00000263381.6_Missense_Mutation_p.D62Y O95785 WIZ_HUMAN widely interspaced zinc finger motifs 62 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CCTCTGCCATCCAGAATGTCT 0.627000 88 135 7.22319e-40 1.02039e-39 0.139131 1 0 ATRNL1 26033 broad.mit.edu 37 10 117045743 117045743 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:117045743G>T ENST00000355044.3 + 15 2377 c.2251G>T c.(2251-2253)Gga>Tga p.G751* NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 751 PSI 3. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTGTGGAGAAGGATGGAGTCA 0.313000 35 14 1.15505e-17 1.34168e-17 0.111260 1 0 CCDC50 152137 broad.mit.edu 37 3 191078925 191078925 + Missense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:191078925C>T ENST00000392455.3 + 4 905 c.307C>T c.(307-309)Cgc>Tgc p.R103C CCDC50_ENST00000392456.3_Missense_Mutation_p.R103C NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 103 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AGAGAGACGACGCATTCAGGA 0.433000 31 171 0 0 0.173368 0 0 PDLIM2 64236 broad.mit.edu 37 8 22442530 22442530 + Splice_Site SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:22442530G>A ENST00000265810.4 + 4 431 c.315_splice c.e4-1 p.G106_splice PDLIM2_ENST00000409417.1_Splice_Site_p.G106_splice|PDLIM2_ENST00000308354.7_Splice_Site_p.G356_splice|PDLIM2_ENST00000409141.1_Splice_Site_p.G106_splice|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397760.4_Splice_Site_p.G106_splice|PDLIM2_ENST00000397761.2_Splice_Site_p.G106_splice|PDLIM2_ENST00000339162.7_Splice_Site_p.G106_splice NM_176871.3 NP_789847.1 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 (mystique) 106 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CTCTCCACAGGGCTCCGTGAG 0.637000 88 127 0 0 0.139131 0 0 DDX42 11325 broad.mit.edu 37 17 61893008 61893008 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:61893008G>T ENST00000578681.1 + 17 2589 c.1988G>T c.(1987-1989)cGg>cTg p.R663L DDX42_ENST00000389924.2_Missense_Mutation_p.R663L|DDX42_ENST00000359353.5_Missense_Mutation_p.R544L|DDX42_ENST00000583590.1_Missense_Mutation_p.R663L|DDX42_ENST00000457800.2_Missense_Mutation_p.R663L NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 663 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TACAGGGAGCGGCCTGGCCTG 0.463000 47 101 2.74695e-27 3.5404e-27 0.139131 1 0 OR2G6 391211 broad.mit.edu 37 1 248685252 248685252 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:248685252A>T ENST00000343414.4 + 1 337 c.305A>T c.(304-306)tAt>tTt p.Y102F NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCCAGCTCTATGTGGCCATG 0.537000 127 19 0 0 0.139131 0 0 ZMYM1 79830 broad.mit.edu 37 1 35578906 35578906 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:35578906G>A ENST00000373330.1 + 11 1649 c.1475G>A c.(1474-1476)aGa>aAa p.R492K ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R492K Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 492 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCTGTGGAAGAGAGTCATTT 0.348000 57 107 0 0 0.139131 0 0 CUBN 8029 broad.mit.edu 37 10 17142060 17142060 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:17142060G>A ENST00000377833.4 - 14 1774 c.1709C>T c.(1708-1710)tCt>tTt p.S570F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 570 CUB 1. 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) TAAATGTTCAGAATAGAGATG 0.418000 105 36 0 0 0.139131 0 0 LIPG 9388 broad.mit.edu 37 18 47108775 47108775 + Silent SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:47108775C>T ENST00000261292.4 + 7 1358 c.1080C>T c.(1078-1080)aaC>aaT p.N360N LIPG_ENST00000427224.2_Silent_p.N286N NM_006033.2 NP_006024.1 Q9Y5X9 LIPE_HUMAN lipase, endothelial 360 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GTTACAAGAACATGGGAGAAA 0.443000 43 89 0 0 0.246493 0 0 OR14I1 401994 broad.mit.edu 37 1 248845040 248845040 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:248845040T>A ENST00000342623.3 - 1 589 c.566A>T c.(565-567)gAg>gTg p.E189V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 AAAGAAAACCTCACAGGAAAC 0.483000 60 14 0 0 0.139131 0 0 PKHD1 5314 broad.mit.edu 37 6 51890864 51890864 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:51890864C>T ENST00000371117.3 - 32 4019 c.3744G>A c.(3742-3744)tgG>tgA p.W1248* PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W1248* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1248 IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGGTTTCACACCAGATGCTCG 0.597000 44 57 0 0 0.117977 0 0 OCEL1 79629 broad.mit.edu 37 19 17337113 17337113 + Missense_Mutation SNP G G C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:17337113G>C ENST00000215061.4 + 1 101 c.57G>C c.(55-57)caG>caC p.Q19H OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.Q19H NM_024578.1 NP_078854.1 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 19 central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2) 7 CGGAGCTCCAGACGCTGGGAC 0.692000 3 12 0 0 0.150653 0 0 CNBD1 168975 broad.mit.edu 37 8 88363947 88363947 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:88363947G>T ENST00000518476.1 + 9 1128 c.1077G>T c.(1075-1077)gtG>gtT p.V359V NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 359 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTTCTTTTGTGGGTTATATTA 0.264000 5 8 5.9392e-07 6.30979e-07 0.217242 1 0 VPS8 23355 broad.mit.edu 37 3 184675175 184675175 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:184675175G>T ENST00000437079.3 + 37 3220 c.3049G>T c.(3049-3051)Gta>Tta p.V1017L VPS8_ENST00000446204.2_Missense_Mutation_p.V925L|VPS8_ENST00000436792.2_Missense_Mutation_p.V1015L|VPS8_ENST00000287546.4_Missense_Mutation_p.V1017L NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 1017 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGGTATTCATGTAAATCAAGA 0.333000 9 60 3.09899e-07 3.31412e-07 0.047766 1 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 404 0 0 0.038147 0 0 SOX30 11063 broad.mit.edu 37 5 157078182 157078182 + Missense_Mutation SNP A A G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:157078182A>G ENST00000265007.6 - 1 1246 c.905T>C c.(904-906)cTg>cCg p.L302P SOX30_ENST00000311371.5_Missense_Mutation_p.L302P|SOX30_ENST00000519442.1_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 302 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAAGGCTCCAGTAGGGACTG 0.532000 4 166 0 0 0.184627 0 0 HDX 139324 broad.mit.edu 37 X 83616510 83616510 + Silent SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:83616510C>G ENST00000297977.5 - 5 1527 c.1416G>C c.(1414-1416)gtG>gtC p.V472V HDX_ENST00000373177.2_Silent_p.V472V|HDX_ENST00000506585.2_Silent_p.V414V NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 472 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATTCAGTTGCCACAGCTTCAA 0.393000 27 8 0 0 0.134883 0 0 NDC80 10403 broad.mit.edu 37 18 2610796 2610796 + Missense_Mutation SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:2610796G>A ENST00000261597.4 + 16 1909 c.1727G>A c.(1726-1728)cGa>cAa p.R576Q NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 576 Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 GAAGAAAGACGAAAAGTGGGA 0.378000 85 132 0 0 0.139131 0 0 LPPR5 163404 broad.mit.edu 37 1 99387542 99387542 + Missense_Mutation SNP A A C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:99387542A>C ENST00000370188.3 - 4 1054 c.694T>G c.(694-696)Tgt>Ggt p.C232G LPPR5_ENST00000263177.4_Missense_Mutation_p.C232G NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 232 integral to membrane hydrolase activity AATGCCAAACACATTAAGCCC 0.378000 67 77 0 0 0.139131 0 0 FANCF 2188 broad.mit.edu 37 11 22646835 22646835 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:22646835C>A ENST00000327470.3 - 1 552 c.522G>T c.(520-522)ctG>ctT p.L174L NM_022725.3 NP_073562.1 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 174 DNA repair nucleoplasm protein binding kidney(3)|large_intestine(3)|lung(6)|skin(1) 13 CCACCTCCTGCAGACGCTCCA 0.602000 """N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 175 0.150653 0.152301 0.150653 1 0 RIN1 9610 broad.mit.edu 37 11 66103108 66103108 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:66103108T>A ENST00000311320.4 - 4 554 c.428A>T c.(427-429)cAg>cTg p.Q143L RIN1_ENST00000424433.2_Missense_Mutation_p.Q38L|RIN1_ENST00000530056.1_Missense_Mutation_p.Q38L|RP11-867G23.12_ENST00000526655.1_RNA NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 143 SH2. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 ACAGATGAGCTGGACTAGGTC 0.642000 19 20 0 0 0.204396 0 0 CLSTN3 9746 broad.mit.edu 37 12 7294733 7294733 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:7294733A>T ENST00000537408.1 + 9 2112 c.1574A>T c.(1573-1575)cAa>cTa p.Q525L CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q513L Q9BQT9 CSTN3_HUMAN calsyntenin 3 513 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GACACCACCCAAGGTACTCCG 0.458000 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 20 0 0 0.047766 0 0 SGIP1 84251 broad.mit.edu 37 1 67155877 67155877 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:67155877G>T ENST00000371037.4 + 17 1525 c.1448G>T c.(1447-1449)aGa>aTa p.R483I SGIP1_ENST00000371035.3_Missense_Mutation_p.R273I|SGIP1_ENST00000371036.3_Missense_Mutation_p.R283I|SGIP1_ENST00000371039.1_Missense_Mutation_p.R284I|SGIP1_ENST00000237247.6_Missense_Mutation_p.R514I NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 483 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TTACAGTCCAGACCTTTTAGC 0.443000 87 167 1.29045e-55 1.95532e-55 0.139131 1 0 CDH10 1008 broad.mit.edu 37 5 24505268 24505268 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:24505268C>A ENST00000264463.4 - 8 1853 c.1346G>T c.(1345-1347)cGt>cTt p.R449L NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 449 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R449L(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGATAGTTCACGGTCAAGAGG 0.328000 HNSCC(23;0.051) 31 105 4.02929e-09 4.35945e-09 0.153744 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33588885 33588885 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:33588885G>T ENST00000504830.1 - 18 3019 c.2684C>A c.(2683-2685)tCg>tAg p.S895* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.S810*|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 895 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCATGTCGCCGAGCATGCTTC 0.582000 HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 115 5.34276e-22 6.47334e-22 0.139131 1 0 PCDH15 65217 broad.mit.edu 37 10 55600188 55600188 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr10:55600188C>A ENST00000373965.2 - 30 4290 c.3896G>T c.(3895-3897)cGc>cTc p.R1299L PCDH15_ENST00000395438.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1255L|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1292L|PCDH15_ENST00000409834.1_Missense_Mutation_p.R903L|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1221L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1299L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1270L|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1292L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1297L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1292 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCCATGCCGGCGAGCTCCAAT 0.448000 HNSCC(58;0.16) 76 15 5.32961e-40 7.54542e-40 0.139131 1 0 DNM1P47 100216544 broad.mit.edu 37 15 102292722 102292722 + RNA SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:102292722C>G ENST00000561463.1 + 0 768 CGCGTGGGAACAAGGAGACAC 0.592000 11 38 0 0 0.105934 0 0 RGPD3 653489 broad.mit.edu 37 2 107042508 107042508 + Nonsense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:107042508G>T ENST00000409886.3 - 19 2729 c.2642C>A c.(2641-2643)tCa>tAa p.S881* RGPD3_ENST00000304514.7_Nonsense_Mutation_p.S881* NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 881 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 ATATGCTGGTGACTGACTATA 0.308000 38 153 1.32667e-27 1.71671e-27 0.139131 1 0 GABRA4 2557 broad.mit.edu 37 4 46930523 46930523 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:46930523C>G ENST00000264318.3 - 9 2366 c.1384G>C c.(1384-1386)Gga>Cga p.G462R NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 462 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGCATATATCCAGTTCGGATA 0.473000 68 18 0 0 0.139131 0 0 PAX1 5075 broad.mit.edu 37 20 21687579 21687579 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr20:21687579G>T ENST00000398485.2 + 2 844 c.790G>T c.(790-792)Ggc>Tgc p.G264C PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.G240C NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 264 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GTCGCCCACGGGCGCCAAGAT 0.697000 47 43 1.65492e-34 2.24002e-34 0.139131 1 0 DNAH9 1770 broad.mit.edu 37 17 11607761 11607761 + Splice_Site SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:11607761T>C ENST00000262442.3 + 25 5459 c.e25+2 DNAH9_ENST00000454412.2_Splice_Site NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTCAGAAGGTGGGTCCCAAA 0.522000 28 55 0 0 0.125774 0 0 OR52B6 340980 broad.mit.edu 37 11 5602862 5602862 + Silent SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:5602862C>A ENST00000345043.2 + 1 756 c.756C>A c.(754-756)gcC>gcA p.A252A AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAAGATGCCCGCTCCAAGG 0.507000 146 50 2.72662e-46 4.00027e-46 0.139131 1 0 TEP1 7011 broad.mit.edu 37 14 20846329 20846329 + Missense_Mutation SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr14:20846329C>G ENST00000262715.5 - 39 5615 c.5575G>C c.(5575-5577)Gtg>Ctg p.V1859L TEP1_ENST00000556935.1_Missense_Mutation_p.V1751L|TEP1_ENST00000545983.1_Missense_Mutation_p.V197L NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1859 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCCGGCCCACAGCCACAACC 0.622000 47 15 0 0 0.139131 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14417547 14417547 + RNA SNP C C G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr21:14417547C>G ENST00000507941.1 + 0 159 GGAATTTTTACTGACAAAAAA 0.303000 11 19 0 0 0.069234 0 0 MUC16 94025 broad.mit.edu 37 19 9007503 9007503 + Silent SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:9007503G>T ENST00000397910.4 - 43 39668 c.39465C>A c.(39463-39465)ccC>ccA p.P13155P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13157 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 GGCTGGGGACGGGGGATGGAG 0.463000 13 32 3.32936e-07 3.54876e-07 0.175082 1 0 RYR2 6262 broad.mit.edu 37 1 237670115 237670115 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:237670115G>T ENST00000366574.2 + 23 3035 c.e23+1 RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTATGGTCCGGTATGTAATTT 0.368000 15 22 2.61681e-11 2.89911e-11 0.119110 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618582 77618582 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:77618582C>A ENST00000521891.2 + 2 2707 c.2259C>A c.(2257-2259)tgC>tgA p.C753* ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 753 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) TCAGTGGCTGCGGAACACCCT 0.527000 HNSCC(33;0.089) 21 19 0.000375601 0.000388201 0.264190 1 0 LINGO1 84894 broad.mit.edu 37 15 77907035 77907035 + Missense_Mutation SNP T T A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr15:77907035T>A ENST00000355300.6 - 2 1388 c.1214A>T c.(1213-1215)aAg>aTg p.K405M LINGO1_ENST00000561030.1_Missense_Mutation_p.K399M NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 405 LRRCT. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 CTTGAACTCCTTGCCCTGGAC 0.662000 7 11 0 0 0.248553 0 0 ZNF578 147660 broad.mit.edu 37 19 53013842 53013842 + Missense_Mutation SNP A A T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr19:53013842A>T ENST00000421239.2 + 6 452 c.208A>T c.(208-210)Atg>Ttg p.M70L NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTCCAAACGCATGATGAAGGA 0.368000 111 214 0 0 0.139131 0 0 C16orf70 80262 broad.mit.edu 37 16 67168322 67168322 + Nonsense_Mutation SNP C C T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:67168322C>T ENST00000219139.3 + 8 801 c.613C>T c.(613-615)Cga>Tga p.R205* C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.R205* NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 205 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) AGATGTTCTTCGAGATGGAAC 0.512000 246 77 0 0 0.139131 0 0 FAM184A 79632 broad.mit.edu 37 6 119338048 119338048 + Missense_Mutation SNP T T C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:119338048T>C ENST00000338891.7 - 5 1837 c.1394A>G c.(1393-1395)cAa>cGa p.Q465R FAM184A_ENST00000352896.5_Missense_Mutation_p.Q345R|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q345R|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q345R|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q465R|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 465 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 CAATCTACTTTGCAGGTTTTT 0.373000 54 81 0 0 0.139131 0 0 ZFR 51663 broad.mit.edu 37 5 32420208 32420208 + Splice_Site SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr5:32420208G>T ENST00000265069.8 - 3 240 c.137_splice c.e3-1 p.S46_splice NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 46 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) CTGGCTGCTGGCTACATTGTG 0.398000 10 33 2.17888e-05 2.27376e-05 0.058154 1 0 RUNX1T1 862 broad.mit.edu 37 8 92982970 92982970 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:92982970C>A ENST00000523629.1 - 11 1909 c.1455G>T c.(1453-1455)aaG>aaT p.K485N RUNX1T1_ENST00000518844.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.K485N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.K496N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.K448N NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 485 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGCGCTCCATCTTGGCCCTCT 0.617000 43 64 3.54909e-21 4.26022e-21 0.124865 1 0 AFF3 3899 broad.mit.edu 37 2 100625330 100625330 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:100625330G>T ENST00000317233.4 - 4 353 c.118C>A c.(118-120)Caa>Aaa p.Q40K AFF3_ENST00000409236.1_Missense_Mutation_p.Q40K|AFF3_ENST00000409579.1_Missense_Mutation_p.Q65K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q65K NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 40 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCATCCTGTTGAGTTTCTTGA 0.403000 18 26 3.32936e-07 3.54876e-07 0.175082 1 0 TMEM150A 129303 broad.mit.edu 37 2 85829067 85829067 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:85829067G>T ENST00000409668.1 - 1 472 c.5C>A c.(4-6)aCc>aAc p.T2N TMEM150A_ENST00000334462.5_Missense_Mutation_p.T2N|TMEM150A_ENST00000306353.3_5'UTR Q86TG1 T150A_HUMAN transmembrane protein 150A 2 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1) 7 GATCCAGGCGGTCATGAGGGA 0.612000 168 257 1.85097e-90 2.85137e-90 0.139131 1 0 COG2 22796 broad.mit.edu 37 1 230827172 230827172 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:230827172G>A ENST00000534989.1 + 17 2135 c.1800G>A c.(1798-1800)aaG>aaA p.K600K COG2_ENST00000366668.3_Silent_p.K658K|COG2_ENST00000535166.1_Silent_p.K543K|COG2_ENST00000366669.4_Silent_p.K659K|COG2_ENST00000546013.1_Silent_p.K348K Q14746 COG2_HUMAN component of oligomeric golgi complex 2 659 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CTGTGAAGAAGATGGAAGAGA 0.463000 62 7 0 0 0.139131 0 0 HOXD8 3234 broad.mit.edu 37 2 176995440 176995440 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:176995440C>A ENST00000313173.4 + 1 973 c.346C>A c.(346-348)Ccg>Acg p.P116T HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.P116T|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.P116T NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 116 Poly-Pro. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) tccgcatcctccgcctccgcc 0.692000 77 90 2.36143e-25 2.98991e-25 0.139131 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112898848 112898848 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:112898848G>T ENST00000374530.3 + 8 1204 c.1024G>T c.(1024-1026)Gca>Tca p.A342S AKAP2_ENST00000510514.5_Missense_Mutation_p.A342S|AKAP2_ENST00000259318.7_Missense_Mutation_p.A111S|AKAP2_ENST00000434623.2_Missense_Mutation_p.A200S|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A342S|AKAP2_ENST00000555236.1_Missense_Mutation_p.A342S|AKAP2_ENST00000374525.1_Missense_Mutation_p.A200S NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 111 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TAGCCGGCAGGCACCTCCTCA 0.622000 58 66 1.31171e-36 1.81729e-36 0.139131 1 0 FRMPD3 84443 broad.mit.edu 37 X 106843936 106843936 + Silent SNP G G A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:106843936G>A ENST00000276185.4 + 16 2766 c.2766G>A c.(2764-2766)aaG>aaA p.K922K Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 922 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GTGAACAGAAGAATCTGAGTC 0.577000 7 3 0 0 0.248553 0 0 PRG2 5553 broad.mit.edu 37 11 57156719 57156719 + Missense_Mutation SNP G G T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:57156719G>T ENST00000311862.5 - 3 203 c.130C>A c.(130-132)Cag>Aag p.Q44K RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.Q149K|PRG2_ENST00000533605.1_Missense_Mutation_p.Q44K|PRG2_ENST00000525955.1_Missense_Mutation_p.Q44K NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 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) TCCATCTCCTGCTCTGGTGTC 0.562000 74 86 4.60868e-44 6.67073e-44 0.139131 1 0 PLXNA4 91584 broad.mit.edu 37 7 131913220 131913220 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr7:131913220C>A ENST00000359827.3 - 6 2575 c.1613G>T c.(1612-1614)cGg>cTg p.R538L PLXNA4_ENST00000321063.4_Missense_Mutation_p.R538L Q9HCM2 PLXA4_HUMAN plexin A4 538 PSI 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCGCTCCTTCCGGGTGCAACT 0.607000 34 48 2.87052e-16 3.29295e-16 0.225048 1 0 FGA 2243 broad.mit.edu 37 4 155507095 155507095 + Missense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr4:155507095C>A ENST00000302053.3 - 5 1564 c.1486G>T c.(1486-1488)Gat>Tat p.D496Y FGA_ENST00000403106.3_Missense_Mutation_p.D496Y NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 496 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTGCCTAAATCCATTGCCTCG 0.473000 87 33 9.37156e-40 1.321e-39 0.139131 1 0 TMEM132D 121256 broad.mit.edu 37 12 129559181 129559181 + Missense_Mutation SNP T T G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:129559181T>G ENST00000422113.2 - 9 2865 c.2539A>C c.(2539-2541)Atg>Ctg p.M847L TMEM132D_ENST00000389441.4_Missense_Mutation_p.M385L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 847 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATGAGTCCCATAGAAGAACTG 0.527000 62 87 0 0 0.139131 0 0 UBXN11 91544 broad.mit.edu 37 1 26608878 26608883 + In_Frame_Del DEL CCGGGA CCGGGA - rs1134580 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:26608878_26608883delCCGGGA ENST00000314675.7 - 11 1189_1194 c.1110_1115delTCCCGG c.(1108-1116)ggc>gg p.GPG370del UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 490 cytoplasm|cytoskeleton p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gggactggggccgggaccgggaccgg 0.718 9 110 --- --- --- --- GNL2 29889 broad.mit.edu 37 1 38039946 38039946 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:38039946delG ENST00000373062.3 - 12 1512 c.1414delC c.(1414-1416)agfs p.Q472fs NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 472 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) GCTCTTACCTGGGGGGCCACA 0.542 16 23 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143209383 143209384 + RNA INS - - T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr1:143209383_143209384insT ENST00000412204.2 - 0 1641 RP11-782C8.1_ENST00000438000.1_lincRNA AAATGTTTAAATTTTCTTTCCA 0.277 13 7 --- --- --- --- HOXD4 3233 broad.mit.edu 37 2 177016671 177016671 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:177016671delC ENST00000306324.3 + 1 722 c.310delC c.(310-312)cgfs p.P104fs HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 104 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) ggcgcctccgccggcgcccct 0.756 16 22 --- --- --- --- ZSWIM2 151112 broad.mit.edu 37 2 187703843 187703844 + Frame_Shift_Ins INS - - C TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr2:187703843_187703844insC ENST00000295131.2 - 4 375_376 c.336_337insG c.(334-339)ggtacafs p.T113fs NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 113 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ACTCGATGTATCCCCCGAAGCA 0.391 111 214 --- --- --- --- ANO10 55129 broad.mit.edu 37 3 43474181 43474181 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr3:43474181delG ENST00000292246.3 - 12 2006 c.1836delC c.(1834-1836)gcfs p.A612fs ANO10_ENST00000451430.2_Frame_Shift_Del_p.A501fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.A422fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.A546fs|ANO10_ENST00000414522.2_Intron NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 612 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TATCAGGTATGGCAAATGCAA 0.423 59 18 --- --- --- --- ITPR3 3710 broad.mit.edu 37 6 33657174 33657175 + Frame_Shift_Ins INS - - G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr6:33657174_33657175insG ENST00000374316.5 + 51 7914_7915 c.6854_6855insG c.(6853-6855)cggfs p.R2285fs ITPR3_ENST00000605930.1_Frame_Shift_Ins_p.R2285fs Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2285 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CTCAACATCCTGGGTGCCCTCA 0.614 38 73 --- --- --- --- AC022182.1 0 broad.mit.edu 37 8 61851312 61851312 + RNA DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:61851312delC ENST00000527672.1 + 0 323 TTGGTATCAACCCCATCTCCA 0.483 13 25 --- --- --- --- JPH1 56704 broad.mit.edu 37 8 75233335 75233340 + In_Frame_Del DEL TAGCCC TAGCCC - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr8:75233335_75233340delTAGCCC ENST00000342232.4 - 1 223_228 c.183_188delGGGCTA c.(181-189)cac>ca p.QGY61del NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 61 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CTGCGCCCAGTAGCCCTGGTAGGTGT 0.684 11 41 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21968233 21968233 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr9:21968233delC ENST00000304494.5 - 3 736 c.466delG c.(466-468)atfs p.D156fs CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.D105fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 156 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(4)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TTCTTTCAATCGGGGATGTCT 0.562 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 31 14 --- --- --- --- SPTY2D1 144108 broad.mit.edu 37 11 18636375 18636376 + Frame_Shift_Ins INS - - A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:18636375_18636376insA ENST00000336349.5 - 3 1680_1681 c.1445_1446insT c.(1444-1446)tggfs p.W482fs NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 482 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CCGGGGGGCCCAAGCCACTCAC 0.589 7 60 --- --- --- --- LOC100507384 100507384 broad.mit.edu 37 11 45764950 45764965 + RNA DEL AAGGAAGGAAGGAAGA AAGGAAGGAAGGAAGA - rs71894726 by1000genomes TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:45764950_45764965delAAGGAAGGAAGGAAGA ENST00000529769.1 + 0 656 ggaaggaaggaaggaaggaaggaagagagagagaga 0.481 3 4 --- --- --- --- SF1 7536 broad.mit.edu 37 11 64533489 64533490 + Frame_Shift_Ins INS - - G TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr11:64533489_64533490insG ENST00000377390.3 - 13 2057_2058 c.1720_1721insC c.(1720-1722)gccfs p.A574fs SF1_ENST00000433274.2_Frame_Shift_Ins_p.A548fs|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Frame_Shift_Ins_p.A574fs NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 574 Pro-rich. 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 CAGAGGCGGCTGGACCCCGGGG 0.728 8 35 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 8 474 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25362210 25362211 + Frame_Shift_Ins INS - - A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr13:25362210_25362211insA ENST00000255324.5 + 7 748_749 c.696_697insA c.(694-699)gaaaaafs p.EK232fs RNF17_ENST00000381921.1_Frame_Shift_Ins_p.EK232fs|RNF17_ENST00000255325.5_Frame_Shift_Ins_p.EK233fs|RNF17_ENST00000255326.4_3'UTR NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 232 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.N235fs*3(2) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACATTGAAGAGAAAAAAAATAA 0.307 42 31 --- --- --- --- CYLD 1540 broad.mit.edu 37 16 50785545 50785545 + Frame_Shift_Del DEL G G - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:50785545delG ENST00000540145.1 + 5 950 c.535delG c.(535-537)ggfs p.G179fs CYLD_ENST00000564326.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000568704.2_Frame_Shift_Del_p.G179fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G179fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000427738.3_Frame_Shift_Del_p.G179fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.G179fs Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) 179 CAP-Gly 1.|Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) TTTCACTGACGGGGTGTACCA 0.418 """Mis, N, F, S""" cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis 121 61 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690387 75690389 + In_Frame_Del DEL CCC CCC - rs75835451 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr16:75690387_75690389delCCC ENST00000300086.4 + 3 1175_1177 c.1078_1080delCCC c.(1078-1080)del p.P360del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 360 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATGGATATCCCATTTGGTCCC 0.453 10 266 --- --- --- --- AC015922.5 0 broad.mit.edu 37 17 15737072 15737073 + RNA INS - - TTTA rs71838018 TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:15737072_15737073insTTTA ENST00000584636.1 + 0 316 CTCTATCCTGCTTTATCTTGGA 0.460 4 5 --- --- --- --- RAI1 10743 broad.mit.edu 37 17 17698946 17698946 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:17698946delC ENST00000353383.1 + 3 3153 c.2684delC c.(2683-2685)gcfs p.A895fs RAI1_ENST00000261641.6_Frame_Shift_Del_p.A895fs NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 895 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TCACCCAAGGCCCCACTCATC 0.652 31 47 --- --- --- --- C17orf104 284071 broad.mit.edu 37 17 42744329 42744330 + Frame_Shift_Ins INS - - A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:42744329_42744330insA ENST00000409122.2 + 5 1192_1193 c.1050_1051insA c.(1048-1053)agaaaafs p.RK350fs C17orf104_ENST00000409464.1_Frame_Shift_Ins_p.RK184fs|C17orf104_ENST00000359945.3_Frame_Shift_Ins_p.RK350fs NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 350 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 TCCAAGATAGCAAAAAATTAGC 0.347 11 22 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219355 45219355 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr17:45219355delC ENST00000066544.3 - 12 1508 c.1415delG c.(1414-1416)gtfs p.G472fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 472 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 AGCTAAATAACCTTTCCCCAT 0.368 7 384 --- --- --- --- PIGN 23556 broad.mit.edu 37 18 59821827 59821827 + Frame_Shift_Del DEL C C - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chr18:59821827delC ENST00000357637.5 - 7 915 c.500delG c.(499-501)gtfs p.G167fs PIGN_ENST00000400334.3_Frame_Shift_Del_p.G167fs NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 167 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) ATCTTGAGCACCAAAATCCTC 0.313 77 200 --- --- --- --- RPS6KA3 6197 broad.mit.edu 37 X 20195158 20195159 + Frame_Shift_Del DEL CT CT - TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:20195158_20195159delCT ENST00000379565.3 - 11 1096_1097 c.889_890delAG c.(889-891)tfs p.S297fs RPS6KA3_ENST00000379548.4_Frame_Shift_Del_p.S268fs|RPS6KA3_ENST00000540702.1_Frame_Shift_Del_p.S269fs|RPS6KA3_ENST00000544447.1_Frame_Shift_Del_p.S269fs NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 297 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TCGTAAAAGACTCTGCGCTTCA 0.307 94 22 --- --- --- --- SLITRK4 139065 broad.mit.edu 37 X 142717956 142717957 + Frame_Shift_Ins INS - - T TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx f02d0332-d7c8-4d2a-98ca-dbe7826437ae adae384c-a4b5-4ce7-bb4c-cc0762d7a807 g.chrX:142717956_142717957insT ENST00000381779.4 - 2 1193_1194 c.968_969insA c.(967-969)acgfs p.T323fs SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.T323fs|SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.T323fs NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 323 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TGAGATTGCGGTTGGAGAGGGC 0.465 128 29 --- --- --- ---