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 MAP3K11 4296 broad.mit.edu 37 11 65375774 65375774 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:65375774C>T ENST00000309100.3 - 2 1370 c.885G>A c.(883-885)aaG>aaA p.K295K MAP3K11_ENST00000530153.1_Silent_p.K38K NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 295 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 AGGTGGAGGCCTTGATAACCT 0.627000 22 63 0 0 1 0 0 DNAAF2 55172 broad.mit.edu 37 14 50100212 50100212 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:50100212C>A ENST00000298292.8 - 1 1736 c.1656G>T c.(1654-1656)ttG>ttT p.L552F DNAAF2_ENST00000406043.3_Missense_Mutation_p.L552F NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 552 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 AGAGGGGATTCAAATCTCCTT 0.443000 17 48 3.32936e-07 3.5329e-07 1 1 0 ATP8A1 10396 broad.mit.edu 37 4 42545975 42545975 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:42545975G>A ENST00000381668.5 - 20 1912 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C ATP8A1_ENST00000264449.10_Missense_Mutation_p.R546C NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 561 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GATGGAGTGCGAACAATCACT 0.338000 16 31 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24850033 24850033 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:24850033C>T ENST00000259698.4 - 11 1119 c.944G>A c.(943-945)tGg>tAg p.W315* FAM65B_ENST00000378023.4_Nonsense_Mutation_p.W315*|FAM65B_ENST00000538035.1_Nonsense_Mutation_p.W344*|FAM65B_ENST00000510784.2_Nonsense_Mutation_p.W349*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.W315* NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 315 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 CACTTACTACCAGGTGATTTC 0.488000 27 374 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55422846 55422846 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:55422846A>G ENST00000341048.4 - 8 851 c.700T>C c.(700-702)Tgt>Cgt p.C234R ANKRD55_ENST00000504958.2_Missense_Mutation_p.C191R|ANKRD55_ENST00000505970.2_Intron NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 233 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) ATATGTACACATGTCTTCCCA 0.498000 60 122 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52862253 52862253 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:52862253C>T ENST00000343457.3 - 4 941 c.935G>A c.(934-936)cGc>cAc p.R312H NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 312 integral to membrane p.R312H(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GCTTTTCATGCGATGCAGATG 0.562000 28 36 0 0 1 0 0 PQLC3 130814 broad.mit.edu 37 2 11300786 11300786 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:11300786G>A ENST00000295083.3 + 3 437 c.262G>A c.(262-264)Ggg>Agg p.G88R PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.G88R|PQLC3_ENST00000402361.1_Missense_Mutation_p.G88R NM_152391.3 NP_689604.1 Q8N755 PQLC3_HUMAN PQ loop repeat containing 3 88 integral to membrane kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132) TCATTTTAACGGGAACGTGAA 0.517000 39 73 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 218 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94088092 94088092 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:94088092G>A ENST00000553484.1 + 31 4733 c.4579G>A c.(4579-4581)Ggg>Agg p.G1527R UNC79_ENST00000393151.2_Missense_Mutation_p.G1505R|UNC79_ENST00000555664.1_Missense_Mutation_p.G1505R|UNC79_ENST00000256339.4_Missense_Mutation_p.G1328R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1505 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TCTTGATATAGGGAATGCAGA 0.438000 33 64 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31750569 31750569 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:31750569G>A ENST00000375663.3 - 15 2256 c.1816C>T c.(1816-1818)Cgg>Tgg p.R606W VARS_ENST00000444930.2_Intron NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 606 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) AGCCCGTGCCGCTGCCCAACT 0.607000 5 73 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 813678 813678 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:813678C>G ENST00000566549.1 + 4 583 c.166C>G c.(166-168)Cct>Gct p.P56A MSLN_ENST00000563941.1_Missense_Mutation_p.P56A|MSLN_ENST00000545450.2_Missense_Mutation_p.P56A|MSLN_ENST00000382862.3_Missense_Mutation_p.P56A Q13421 MSLN_HUMAN mesothelin 56 ANPP -> TTPH (in Ref. 2; AAC50348). cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GGCCAACCCACCTAACATTTC 0.662000 14 12 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059029 248059029 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:248059029G>A ENST00000537741.1 + 3 398 c.141G>A c.(139-141)ctG>ctA p.L47L OR2W3_ENST00000360358.3_Silent_p.L47L Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCATCATCCTGGTGTCCCGGC 0.592000 15 343 0 0 1 0 0 DDAH2 23564 broad.mit.edu 37 6 31696843 31696843 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:31696843G>A ENST00000375789.2 - 1 726 c.96C>T c.(94-96)ggC>ggT p.G32G DDAH2_ENST00000375787.2_Silent_p.G32G|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375792.3_Silent_p.G32G O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 32 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) GAGCGGGAAGGCCAGCCCCCG 0.677000 57 75 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52474664 52474664 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:52474664C>T ENST00000216286.5 - 19 3743 c.3744G>A c.(3742-3744)tgG>tgA p.W1248* NID2_ENST00000541773.1_Nonsense_Mutation_p.W1147* NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1248 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTTCTCTATTCCAGTCTGTCC 0.403000 5 54 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987073 61987073 + Nonsense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr13:61987073C>A ENST00000409186.1 - 5 3264 c.1159G>T c.(1159-1161)Gga>Tga p.G387* PCDH20_ENST00000409204.4_Nonsense_Mutation_p.G387* Q8N6Y1 PCD20_HUMAN protocadherin 20 360 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) ACACTTCCTCCAATCTTACTG 0.398000 58 96 1.61742e-36 1.88958e-36 1 1 0 ATCAY 85300 broad.mit.edu 37 19 3905458 3905458 + Nonsense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:3905458G>T ENST00000450849.2 + 4 630 c.163G>T c.(163-165)Gga>Tga p.G55* ATCAY_ENST00000301260.6_Nonsense_Mutation_p.G55*|ATCAY_ENST00000600960.1_Nonsense_Mutation_p.G55*|ATCAY_ENST00000398448.3_Nonsense_Mutation_p.G61* NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 55 transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) AAATTTCAACGGAGCGCATCG 0.498000 22 23 4.35082e-09 4.65748e-09 1 1 0 MPP7 143098 broad.mit.edu 37 10 28358781 28358781 + Splice_Site SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:28358781C>A ENST00000337532.5 - 14 1400 c.1124G>T c.(1123-1125)gGt>gTt p.G375V MPP7_ENST00000375719.3_Splice_Site_p.G375V|MPP7_ENST00000445954.2_Splice_Site_p.G250V|MPP7_ENST00000540098.1_Splice_Site_p.G375V|MPP7_ENST00000375732.1_Splice_Site_p.G375V NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 375 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCCCACGGGACCTGAAAAACA 0.463000 13 16 5.50884e-06 5.77003e-06 1 1 0 EXOSC9 5393 broad.mit.edu 37 4 122723018 122723018 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:122723018A>T ENST00000512454.1 + 1 271 c.55A>T c.(55-57)Atc>Ttc p.I19F EXOSC9_ENST00000243498.5_Missense_Mutation_p.I35F|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.I35F Q06265 EXOS9_HUMAN exosome component 9 35 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 TTATAGGAACATCAGGATCTC 0.368000 31 51 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36216719 36216719 + Splice_Site SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:36216719G>A ENST00000222270.7 + 13 3885 c.3885G>A c.(3883-3885)tgG>tgA p.W1295* KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Splice_Site_p.W1295* NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B GGCGCCACTGGGTGAGAGATG 0.612000 6 0 0 0 1 0 0 BNIPL 149428 broad.mit.edu 37 1 151018593 151018593 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:151018593C>A ENST00000295294.7 + 9 1352 c.743C>A c.(742-744)gCc>gAc p.A248D BNIPL_ENST00000368931.3_Missense_Mutation_p.A330D|BNIPL_ENST00000491386.1_3'UTR NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 330 CRAL-TRIO. apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGGGAGCTGGCCCAACTCATA 0.453000 37 40 7.04047e-22 7.84787e-22 1 1 0 DENND3 22898 broad.mit.edu 37 8 142151356 142151356 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:142151356G>A ENST00000519811.1 + 4 626 c.556G>A c.(556-558)Gtg>Atg p.V186M DENND3_ENST00000424248.1_Missense_Mutation_p.V106M|DENND3_ENST00000262585.2_Missense_Mutation_p.V106M|DENND3_ENST00000518347.1_Missense_Mutation_p.V186M A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 106 DENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCTGCTTCGTGCCCTTCGC 0.577000 14 144 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486976 36486976 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:36486976C>G ENST00000342292.4 - 11 2496 c.2476G>C c.(2476-2478)Gga>Cga p.G826R NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 826 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGCCTCTCTCCCACCGTCAGG 0.667000 10 17 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237730002 237730002 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:237730002G>A ENST00000366574.2 + 28 3667 c.3350G>A c.(3349-3351)tGg>tAg p.W1117* RYR2_ENST00000360064.6_Nonsense_Mutation_p.W1115*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.W1101* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1117 4 X approximate repeats.|B30.2/SPRY 2. 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) AGGGTTGGTTGGAGTCGTCCT 0.532000 114 325 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802170 68802170 + Splice_Site SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:68802170C>T ENST00000295569.7 - 4 623 c.e4-1 NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) TGGTGGTGACCTAGTTGGTAA 0.478000 16 29 0 0 1 0 0 NEDD9 4739 broad.mit.edu 37 6 11190347 11190347 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:11190347C>T ENST00000379446.5 - 5 1921 c.1755G>A c.(1753-1755)caG>caA p.Q585Q RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.Q585Q NM_001271033.1|NM_006403.3 NP_001257962.1|NP_006394.1 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally down-regulated 9 585 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) GCAGCTGTCCCTGGGAGCCAC 0.632000 32 65 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20874968 20874968 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:20874968A>T ENST00000381552.1 + 8 1374 c.1006A>T c.(1006-1008)Atg>Ttg p.M336L SLCO1C1_ENST00000266509.2_Missense_Mutation_p.M336L|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.M287L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.M218L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.M336L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 336 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TGCAAAAATAATGGAAATGGC 0.353000 14 27 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740651 140740651 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140740651C>G ENST00000522605.1 + 1 949 c.949C>G c.(949-951)Ctg>Gtg p.L317V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGTTACACTCTGAGTATCGA 0.388000 4 35 0 0 1 0 0 RGS13 6003 broad.mit.edu 37 1 192628536 192628536 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:192628536T>C ENST00000391995.2 + 7 651 c.363T>C c.(361-363)ttT>ttC p.F121F RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Silent_p.F121F NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 121 RGS. plasma membrane GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 AAACATGTTTTGAAGAAGCTC 0.353000 45 25 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88583193 88583193 + Silent SNP G G A rs145650472 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:88583193G>A ENST00000418177.2 - 3 1159 c.792C>T c.(790-792)ctC>ctT p.L264L GRM5_ENST00000305432.5_Silent_p.L264L|GRM5_ENST00000393297.1_Silent_p.L264L|GRM5_ENST00000305447.4_Silent_p.L264L|GRM5_ENST00000455756.2_Silent_p.L264L P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 264 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) AGTGACTTGTGAGCTTCTTCA 0.547000 27 42 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782928 54782928 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:54782928C>T ENST00000391748.1 - 6 821 c.694G>A c.(694-696)Ggt>Agt p.G232S LILRB2_ENST00000314446.5_Missense_Mutation_p.G232S|LILRB2_ENST00000391749.4_Missense_Mutation_p.G232S|LILRB2_ENST00000434421.1_Missense_Mutation_p.G116S|LILRB2_ENST00000391746.1_Missense_Mutation_p.G232S NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 232 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACGACAGGACCCGGCTGCACT 0.572000 7 133 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34501269 34501269 + Splice_Site SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr20:34501269G>A ENST00000374012.3 + 11 1789 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) aaCCAAACCTGGTAATTTTTT 0.408000 11 25 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104092983 104092983 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:104092983G>A ENST00000388887.2 + 34 3896 c.3692G>A c.(3691-3693)aGc>aAc p.S1231N NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1231 FAS1 4. 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 TATTTCCTTAGCTTCTTTCTC 0.473000 16 26 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806089 1806089 + Missense_Mutation SNP G G T rs121913479 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:1806089G>T ENST00000340107.4 + 9 1370 c.1114G>T c.(1114-1116)Ggc>Tgc p.G372C FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.G370C|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C|FGFR3_ENST00000352904.1_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 370 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.G370C(108)|p.A369_G370>VC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGACGAGGCGGGCAGTGTGTA 0.687000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 104 153 1.16068e-44 1.36915e-44 1 1 0 STAG2 10735 broad.mit.edu 37 X 123196751 123196751 + Splice_Site SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:123196751G>A ENST00000371160.1 + 18 1928 c.e18-1 STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TGTTCCTTTAGGTGCTTACAG 0.343000 29 8 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138270 126138270 + Nonsense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:126138270G>T ENST00000299308.3 + 9 2259 c.2251G>T c.(2251-2253)Gag>Tag p.E751* TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.E263* NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 751 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TGTGGTTGCAGAGGGTGAAGG 0.433000 50 89 1.30916e-28 1.5006e-28 1 1 0 SBNO2 22904 broad.mit.edu 37 19 1110743 1110743 + Splice_Site SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:1110743C>A ENST00000361757.3 - 26 3266 c.e26+1 SBNO2_ENST00000587024.1_Splice_Site|SBNO2_ENST00000438103.2_Splice_Site NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTGCTCACCCAGGATGCC 0.637000 52 85 1.11015e-26 1.26059e-26 1 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72520532 72520532 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:72520532C>G ENST00000373208.1 + 22 3604 c.3604C>G c.(3604-3606)Cct>Gct p.P1202A ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1199A NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1199 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TACGCCAGTCCCTGAGGACAA 0.647000 32 64 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112585986 112585986 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:112585986G>T ENST00000257604.5 + 8 1653 c.1036G>T c.(1036-1038)Gca>Tca p.A346S TRAFD1_ENST00000412615.2_Missense_Mutation_p.A346S NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 346 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 GCAACAGGCTGCAAGTAACCA 0.502000 11 88 0.0692343 0.0698089 1 1 0 LPHN1 22859 broad.mit.edu 37 19 14273534 14273534 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:14273534G>C ENST00000340736.6 - 6 1391 c.1094C>G c.(1093-1095)cCc>cGc p.P365R CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.P360R NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 365 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GAACTGGTAGGGGTTGGGGAA 0.587000 11 147 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113145992 113145992 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:113145992G>A ENST00000316851.7 + 18 2430 c.2430G>A c.(2428-2430)aaG>aaA p.K810K NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 820 axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TCTGCAGGAAGGGCCCCGTAG 0.592000 18 23 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175218 140175218 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140175218G>A ENST00000526136.1 + 1 669 c.669G>A c.(667-669)acG>acA p.T223T PCDHA2_ENST00000378132.1_Silent_p.T223T|PCDHA2_ENST00000520672.2_Silent_p.T223T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAGCTCACGGGCACCGTTC 0.418000 64 72 0 0 1 0 0 DDIT4 54541 broad.mit.edu 37 10 74034625 74034625 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:74034625G>A ENST00000307365.3 + 3 579 c.378G>A c.(376-378)caG>caA p.Q126Q NM_019058.2 NP_061931.1 Q9NX09 DDIT4_HUMAN DNA-damage-inducible transcript 4 126 apoptosis cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1) 12 TGGTAAGCCAGGTGGGCAAAG 0.692000 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 67 107 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99944886 99944886 + Silent SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:99944886C>A ENST00000524871.1 + 13 1730 c.1440C>A c.(1438-1440)ccC>ccA p.P480P CNTN5_ENST00000279463.3_Silent_p.P480P|CNTN5_ENST00000527185.1_Silent_p.P480P|CNTN5_ENST00000418526.2_Silent_p.P406P|CNTN5_ENST00000528682.1_Silent_p.P480P NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 480 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CTTCAGCTCCCACTTTTGCAC 0.363000 11 8 0.00136819 0.00139109 1 1 0 HYOU1 10525 broad.mit.edu 37 11 118920312 118920312 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:118920312C>T ENST00000404233.3 - 16 1886 c.1762G>A c.(1762-1764)Ggt>Agt p.G588S HYOU1_ENST00000543287.1_Missense_Mutation_p.G501S|HYOU1_ENST00000529972.1_Missense_Mutation_p.G588S|HYOU1_ENST00000525859.1_Missense_Mutation_p.G588S NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 588 endoplasmic reticulum lumen ATP binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) GGTGTGGTACCGCCTCCAAAC 0.527000 5 124 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34209159 34209159 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:34209159G>A ENST00000373381.4 - 14 2071 c.1895C>T c.(1894-1896)cCc>cTc p.P632L NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 592 CUB 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGGTAGTTGGGAGACAGGAC 0.572000 8 102 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296395 20296395 + Missense_Mutation SNP G G T rs148867085 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:20296395G>T ENST00000315947.1 + 1 788 c.788G>T c.(787-789)aGg>aTg p.R263M OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CGCCCCTTCAGGGCTTTCCCA 0.458000 52 73 4.6707e-30 5.37905e-30 1 1 0 SLC16A5 9121 broad.mit.edu 37 17 73100105 73100105 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:73100105C>T ENST00000450736.2 + 5 1609 c.1194C>T c.(1192-1194)ttC>ttT p.F398F SLC16A5_ENST00000538213.2_Silent_p.F438F|SLC16A5_ENST00000329783.4_Silent_p.F398F|SLC16A5_ENST00000580123.1_Silent_p.F398F O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 398 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) GCTATGTTTTCTACATGTCCA 0.567000 13 117 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33156927 33156927 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:33156927G>A ENST00000341947.2 - 3 498 c.271C>T c.(271-273)Cgg>Tgg p.R91W COL11A2_ENST00000374708.4_Missense_Mutation_p.R91W|COL11A2_ENST00000395194.1_Missense_Mutation_p.R91W|COL11A2_ENST00000357486.1_Missense_Mutation_p.R91W|COL11A2_ENST00000374712.1_Missense_Mutation_p.R91W|COL11A2_ENST00000374713.1_Missense_Mutation_p.R91W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R91W|COL11A2_ENST00000395197.1_Missense_Mutation_p.R91W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R91W NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 91 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GGGCGGGTCCGGACAACAGTC 0.592000 4 102 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65170940 65170940 + Missense_Mutation SNP C C A rs141462797 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:65170940C>A ENST00000381210.3 - 7 784 c.674G>T c.(673-675)tGg>tTg p.W225L TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.W225L NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 225 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 AGTAAATCCCCAGTAAAAGGC 0.308000 6 115 0.00116845 0.00119803 1 1 0 SPIC 121599 broad.mit.edu 37 12 101880371 101880371 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:101880371C>T ENST00000551346.1 + 6 728 c.569C>T c.(568-570)aCt>aTt p.T190I SPIC_ENST00000299272.5_Missense_Mutation_p.T190I Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 AGGAAGCTGACTTACCAGTTC 0.443000 12 116 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32575281 32575281 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr21:32575281T>C ENST00000286827.3 - 13 2907 c.2436A>G c.(2434-2436)ctA>ctG p.L812L TIAM1_ENST00000541036.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 812 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TGTTTTCTATTAGAAATTTCA 0.388000 81 88 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158059334 158059334 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:158059334C>T ENST00000368172.1 + 5 541 c.529C>T c.(529-531)Cag>Tag p.Q177* KIRREL_ENST00000368173.3_Nonsense_Mutation_p.Q379*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.Q263*|KIRREL_ENST00000359209.6_Nonsense_Mutation_p.Q363*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.Q260*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.Q199* Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 363 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GTCGGTGACTCAGGCAGACGC 0.647000 6 130 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88717888 88717888 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:88717888G>T ENST00000393294.3 - 4 1249 c.880C>A c.(880-882)Cgt>Agt p.R294S GRM5_ENST00000305432.5_Intron|GRM5_ENST00000418177.2_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Intron|GRM5_ENST00000455756.2_Intron P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 0 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) ACATTCAAACGGTTTATTAAA 0.289000 4 1 0.150653 0.151276 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725934 140725934 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140725934G>A ENST00000253812.6 + 1 2334 c.2334G>A c.(2332-2334)acG>acA p.T778T PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGGACACGCTCATCAGCC 0.522000 14 207 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143399942 143399942 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:143399942A>G ENST00000519651.1 - 5 393 c.290T>C c.(289-291)gTg>gCg p.V97A TSNARE1_ENST00000524325.1_Missense_Mutation_p.V316A|TSNARE1_ENST00000307180.3_Missense_Mutation_p.V316A|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000520166.1_Missense_Mutation_p.V316A Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 316 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CATCTGCTTCACGGAGCTGGC 0.662000 62 125 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455151 187455151 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:187455151T>C ENST00000307161.5 - 2 946 c.745A>G c.(745-747)Att>Gtt p.I249V RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 249 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GCCCAGCAAATGGCAAAAAGG 0.527000 51 109 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18849753 18849753 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:18849753G>A ENST00000446231.2 - 44 7532 c.7120C>T c.(7120-7122)Cga>Tga p.R2374* SMG1_ENST00000389467.3_Nonsense_Mutation_p.R2374* Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2374 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TGTGTCATTCGAAAAGGTACT 0.373000 7 76 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168084 69168084 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:69168084C>T ENST00000420581.2 - 2 1601 c.1422G>A c.(1420-1422)caG>caA p.Q474Q LMOD3_ENST00000489031.1_Silent_p.Q474Q|LMOD3_ENST00000475434.1_Silent_p.Q474Q NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 474 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) ACTTCGGGGCCTGCGATGGCT 0.562000 4 68 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75665679 75665679 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:75665679C>T ENST00000319410.5 - 9 1195 c.1074G>A c.(1072-1074)acG>acA p.T358T KARS_ENST00000302445.3_Silent_p.T330T|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 330 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) CAGGATTGTGCGTCAAATCAA 0.493000 87 135 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636642 73636642 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr13:73636642C>A ENST00000377687.4 + 2 1441 c.905C>A c.(904-906)cCg>cAg p.P302Q KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P211Q NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 302 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TACTTTCCCCCGTCACCACCA 0.502000 67 63 2.89935e-36 3.37102e-36 1 1 0 ORC3 23595 broad.mit.edu 37 6 88376826 88376826 + Silent SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:88376826A>T ENST00000392844.3 + 20 2169 c.2121A>T c.(2119-2121)acA>acT p.T707T ORC3_ENST00000546266.1_Silent_p.T564T|ORC3_ENST00000257789.4_Silent_p.T708T NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 707 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 CAAGACTAACATGGGGAGGCT 0.393000 21 30 0 0 1 0 0 PSORS1C1 170679 broad.mit.edu 37 6 31107475 31107475 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:31107475G>A ENST00000259881.9 + 6 514 c.225G>A c.(223-225)caG>caA p.Q75Q PSORS1C1_ENST00000481450.2_Silent_p.Q12Q|PSORS1C1_ENST00000547221.1_Silent_p.Q27Q NM_014068.2 NP_054787.2 Q9UIG5 PS1C1_HUMAN psoriasis susceptibility 1 candidate 1 75 kidney(1)|ovary(2)|prostate(1)|skin(1) 5 CAGCCACCCAGGATGACTGCA 0.547000 34 33 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74473393 74473393 + Silent SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:74473393C>G ENST00000437994.2 + 10 1523 c.1092C>G c.(1090-1092)ctC>ctG p.L364L CD109_ENST00000287097.5_Silent_p.L364L|CD109_ENST00000422508.2_Silent_p.L287L NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 364 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGCCATCTCTCAACTTCACAG 0.318000 20 35 0 0 1 0 0 RBM22 55696 broad.mit.edu 37 5 150075243 150075243 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:150075243C>T ENST00000199814.4 - 7 692 c.571G>A c.(571-573)Gac>Aac p.D191N RBM22_ENST00000540000.1_Missense_Mutation_p.D142N|RBM22_ENST00000447771.2_Missense_Mutation_p.D142N NM_018047.2 NP_060517.1 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 191 protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1) 17 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAAGGGGGTCATCTGGATCT 0.413000 8 52 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52827910 52827910 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:52827910C>T ENST00000252245.5 - 1 399 c.179G>A c.(178-180)cGc>cAc p.R60H NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 60 Gly-rich.|Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GTAGAGGCTGCGGCTTCCAAA 0.652000 10 114 0 0 1 0 0 IDI2 91734 broad.mit.edu 37 10 1066766 1066766 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:1066766C>T ENST00000277517.1 - 4 371 c.307G>A c.(307-309)Gga>Aga p.G103R NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 103 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) CTCCTCACTCCGATGGCATCC 0.542000 22 29 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45403752 45403752 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:45403752C>T ENST00000389039.6 - 6 930 c.545G>A c.(544-546)aGc>aAc p.S182N DUOX2_ENST00000603300.1_Missense_Mutation_p.S182N Q9NRD8 DUOX2_HUMAN dual oxidase 2 182 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ATAGATGGCGCTGCCGTCCAG 0.766000 4 9 0 0 1 0 0 IRX3 79191 broad.mit.edu 37 16 54319028 54319028 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:54319028A>G ENST00000329734.3 - 2 1477 c.765T>C c.(763-765)gaT>gaC p.D255D NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 255 Asp/Glu-rich (acidic). multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 AGTTCTCCAAATCGATctcct 0.682000 18 23 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154295499 154295499 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:154295499G>A ENST00000484864.1 + 3 310 c.274G>A c.(274-276)Gtt>Att p.V92I AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.V92I Q96PS8 AQP10_HUMAN aquaporin 10 92 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity p.V92I(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CATGTGCATCGTTGGACGCCT 0.517000 4 204 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25265192 25265192 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr13:25265192G>C ENST00000218548.6 + 8 1223 c.890G>C c.(889-891)gGa>gCa p.G297A ATP12A_ENST00000381946.3_Missense_Mutation_p.G291A NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 291 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TTGGCCTCAGGAGTTGGAAAT 0.502000 5 143 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159835026 159835026 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:159835026C>A ENST00000297151.4 - 9 1256 c.869G>T c.(868-870)aGa>aTa p.R290I NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 290 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 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) TCTCATTGCTCTAGTTTTTGG 0.299000 45 75 1.61863e-15 1.7638e-15 1 1 0 CCDC108 255101 broad.mit.edu 37 2 219894290 219894290 + Nonsense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:219894290G>T ENST00000341552.5 - 11 1568 c.1485C>A c.(1483-1485)tgC>tgA p.C495* CCDC108_ENST00000441968.1_Nonsense_Mutation_p.C495*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.C484*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.C430*|CCDC108_ENST00000453220.1_Nonsense_Mutation_p.C495* NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 495 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTGGGCCGTGCAGTCCGATT 0.597000 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 113 0.00024832 0.000255685 1 1 0 COL5A3 50509 broad.mit.edu 37 19 10089574 10089574 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:10089574C>T ENST00000264828.3 - 40 3042 c.2957G>A c.(2956-2958)gGg>gAg p.G986E NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 986 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACCGGGTCCCCAGGGCCCCC 0.622000 11 16 0 0 1 0 0 MIR297 100126354 broad.mit.edu 37 4 111781801 111781801 + RNA SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:111781801A>G ENST00000401142.1 - 0 2 NR_030643.1 acacatacatacataTGTTCA 0.328000 18 30 0 0 1 0 0 CHKB 1120 broad.mit.edu 37 22 51020239 51020239 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:51020239C>T ENST00000406938.2 - 3 603 c.386G>A c.(385-387)cGg>cAg p.R129Q CHKB_ENST00000463053.1_5'UTR NM_005198.4 NP_005189.2 Q9Y259 CHKB_HUMAN choline kinase beta 129 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1) 15 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CCCCAGCGACCGCTCCGCAAG 0.617000 49 92 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3101305 3101305 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:3101305A>G ENST00000381951.1 + 1 493 c.493A>G c.(493-495)Agt>Ggt p.S165G NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 GCTCACAGCTAGTTTGTCCTT 0.458000 49 73 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29750657 29750657 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:29750657T>C ENST00000357586.2 - 7 1106 c.920A>G c.(919-921)aAt>aGt p.N307S AP1B1_ENST00000402502.1_Missense_Mutation_p.N307S|AP1B1_ENST00000415447.1_Missense_Mutation_p.N307S|AP1B1_ENST00000432560.2_Missense_Mutation_p.N307S|AP1B1_ENST00000405198.1_Missense_Mutation_p.N307S|AP1B1_ENST00000317368.7_Missense_Mutation_p.N307S|AP1B1_ENST00000356015.2_Missense_Mutation_p.N307S NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 307 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CACGATGAGATTGATGTTGCG 0.582000 10 94 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186158668 186158668 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:186158668C>T ENST00000271588.4 + 107 16795 c.16566C>T c.(16564-16566)ccC>ccT p.P5522P HMCN1_ENST00000367492.2_Silent_p.P5405P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5522 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACTGTCCACCCAATGATTTGG 0.438000 47 61 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111636553 111636553 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:111636553C>G ENST00000435970.1 - 29 8965 c.8149G>C c.(8149-8151)Gag>Cag p.E2717Q REV3L_ENST00000368802.3_Missense_Mutation_p.E2795Q|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_Missense_Mutation_p.E2795Q|REV3L_ENST00000358835.3_Missense_Mutation_p.E2795Q O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2795 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAAGACTGCTCCTTAGTGGCT 0.343000 DNA polymerases (catalytic subunits) 14 23 0 0 1 0 0 GTPBP6 8225 broad.mit.edu 37 X 224136 224136 + Silent SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:224136G>T ENST00000326153.4 - 5 630 c.631C>A c.(631-633)Cgg>Agg p.R211R O43824 GTPB6_HUMAN GTP binding protein 6 (putative) 440 intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CCGTGGCCCCGCAGGGCAGAC 0.677000 14 35 2.32078e-09 2.49536e-09 1 1 0 PANX3 116337 broad.mit.edu 37 11 124489476 124489476 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:124489476C>T ENST00000284288.2 + 4 891 c.824C>T c.(823-825)tCc>tTc p.S275F NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 275 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GTTAGCCTCTCCAGTGTAGCA 0.458000 22 47 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100365467 100365467 + RNA SNP G G A rs74848966 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:100365467G>A ENST00000542585.1 + 0 5022 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AATGGCCATCGGGTGGCCCTA 0.582000 18 33 0 0 1 0 0 ABT1 29777 broad.mit.edu 37 6 26598817 26598817 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:26598817G>A ENST00000274849.1 + 3 794 c.763G>A c.(763-765)Gga>Aga p.G255R NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 255 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 CAGGATCTTTGGAGCCCCGCC 0.662000 26 41 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102808061 102808061 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:102808061G>A ENST00000262236.5 + 8 2342 c.1987G>A c.(1987-1989)Gac>Aac p.D663N ZNF839_ENST00000559185.1_Missense_Mutation_p.D661N|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000558850.1_Missense_Mutation_p.D661N|ZNF839_ENST00000442396.2_Missense_Mutation_p.D777N NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 661 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAAGGTTTGTGACTTCCACCT 0.622000 9 120 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50074470 50074470 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:50074470A>G ENST00000281631.5 + 9 814 c.656A>G c.(655-657)tAt>tGt p.Y219C PARP8_ENST00000505554.1_Missense_Mutation_p.Y198C|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.Y219C|PARP8_ENST00000505697.2_Missense_Mutation_p.Y219C|PARP8_ENST00000503750.2_Missense_Mutation_p.Y219C NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 219 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) CTTACACAGTATTTAAATGGC 0.333000 4 22 0 0 1 0 0 AICDA 57379 broad.mit.edu 37 12 8758001 8758001 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:8758001G>A ENST00000229335.6 - 3 340 c.237C>T c.(235-237)acC>acT p.T79T AICDA_ENST00000537228.1_Silent_p.T79T NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 79 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) AGGTGAACCAGGTGACGCGGT 0.627000 25 66 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536733 130536733 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:130536733G>C ENST00000314830.8 - 2 164 c.51C>G c.(49-51)ttC>ttG p.F17L NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 17 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CAAAGCCCTTGAACTTGAAGA 0.473000 5 48 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066461 46066461 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr21:46066461C>T ENST00000334670.8 + 1 131 c.86C>T c.(85-87)cCc>cTc p.P29L TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 29 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 TGCTGTGAGCCCCCCTGCAGC 0.706000 55 71 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016850 23016850 + Missense_Mutation SNP C C T rs4988474 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr20:23016850C>T ENST00000255008.3 + 1 794 c.730C>T c.(730-732)Cgc>Tgc p.R244C RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 244 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) CGTGGCCCTGCGCGCTGGCTG 0.622000 8 157 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13526293 13526293 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:13526293G>A ENST00000318426.2 - 3 479 c.262C>T c.(262-264)Cct>Tct p.P88S C12orf36_ENST00000527705.2_Missense_Mutation_p.P88S chromosome 12 open reading frame 36 lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) CCCAGGGGAGGAGCTCGTGCA 0.463000 63 81 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144863938 144863938 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:144863938G>A ENST00000367545.3 + 45 6527 c.6527G>A c.(6526-6528)aGa>aAa p.R2176K NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2176 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) TAGATTTGCAGAGAGGTGCCT 0.403000 11 13 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55816212 55816212 + Silent SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:55816212C>A ENST00000309383.1 + 14 1918 c.1641C>A c.(1639-1641)gcC>gcA p.A547A BRSK1_ENST00000590333.1_Silent_p.A563A|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.A242A NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 547 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCGGGGGAGCCGCCTGGAGGA 0.701000 37 4 1.836e-18 2.01877e-18 1 1 0 KCNA5 3741 broad.mit.edu 37 12 5154246 5154246 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:5154246G>A ENST00000252321.3 + 1 1162 c.933G>A c.(931-933)acG>acA p.T311T NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 311 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CTGGCCCTACGGTGGCACCGC 0.711000 53 91 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56479254 56479254 + Missense_Mutation SNP T T G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:56479254T>G ENST00000370754.5 - 36 4858 c.4859A>C c.(4858-4860)cAt>cCt p.H1620P DST_ENST00000370788.2_Missense_Mutation_p.H1442P|DST_ENST00000446842.2_Missense_Mutation_p.H1116P|DST_ENST00000361203.3_Missense_Mutation_p.H1442P|DST_ENST00000244364.6_Missense_Mutation_p.H1116P|DST_ENST00000370769.4_Missense_Mutation_p.H1442P|DST_ENST00000312431.6_Missense_Mutation_p.H1442P|DST_ENST00000421834.2_Missense_Mutation_p.H1442P Q03001 DYST_HUMAN dystonin 1442 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTTTCAACATGTTCTTTCTT 0.368000 7 15 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16994309 16994309 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:16994309C>T ENST00000377833.4 - 33 5000 c.4935G>A c.(4933-4935)caG>caA p.Q1645Q NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1645 CUB 11. 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) AGCTGCAGTTCTGATTGTTTG 0.478000 49 65 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98240410 98240410 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:98240410G>A ENST00000430669.2 - 9 1661 c.1076C>T c.(1075-1077)aCg>aTg p.T359M PTCH1_ENST00000418258.1_Missense_Mutation_p.T274M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T424M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T274M|PTCH1_ENST00000429896.2_Missense_Mutation_p.T274M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T359M|PTCH1_ENST00000331920.6_Missense_Mutation_p.T425M Q13635 PTC1_HUMAN patched 1 425 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GTCCAGGGTCGTGGTGGTGAA 0.532000 26 68 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54782929 54782929 + Silent SNP C C T rs141840014 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:54782929C>T ENST00000391748.1 - 6 820 c.693G>A c.(691-693)ccG>ccA p.P231P LILRB2_ENST00000314446.5_Silent_p.P231P|LILRB2_ENST00000391749.4_Silent_p.P231P|LILRB2_ENST00000434421.1_Silent_p.P115P|LILRB2_ENST00000391746.1_Silent_p.P231P NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 231 Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CGACAGGACCCGGCTGCACTG 0.572000 7 131 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 87951882 87951882 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:87951882A>T ENST00000518476.1 + 4 382 c.331A>T c.(331-333)Ata>Tta p.I111L NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 111 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TTCTAACAATATAGCTGTCCA 0.348000 33 58 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68384826 68384826 + Splice_Site SNP A A C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:68384826A>C ENST00000406334.3 - 8 981 c.763T>G c.(763-765)Tat>Gat p.Y255D 130 ACACATACATACTAGAGATTA 0.507000 19 31 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103124075 103124075 + Silent SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:103124075C>G ENST00000375735.2 + 66 10248 c.10104C>G c.(10102-10104)ctC>ctG p.L3368L DYNC2H1_ENST00000398093.3_Silent_p.L3375L|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3368 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATTCCGCCTCTTTTTGTCAA 0.373000 34 52 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47874209 47874209 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:47874209G>A ENST00000259021.4 + 3 541 c.261G>A c.(259-261)gtG>gtA p.V87V KAT7_ENST00000424009.2_Silent_p.V87V|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Silent_p.V87V|KAT7_ENST00000503935.2_5'UTR NM_007067.4 NP_008998.1 O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 87 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTACCCCAGTGACACCGAAAA 0.488000 23 263 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594909 179594909 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:179594909G>T ENST00000589042.1 - 62 18442 c.18218C>A c.(18217-18219)gCa>gAa p.A6073E TTN_ENST00000591111.1_Missense_Mutation_p.A5756E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4829E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5756 Ig-like 42. 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) AGCTTTGGCTGCAAAGAGCTC 0.458000 4 46 1 1 1 1 0 CNTN5 53942 broad.mit.edu 37 11 99944885 99944885 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:99944885C>A ENST00000524871.1 + 13 1729 c.1439C>A c.(1438-1440)cCc>cAc p.P480H CNTN5_ENST00000279463.3_Missense_Mutation_p.P480H|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480H|CNTN5_ENST00000418526.2_Missense_Mutation_p.P406H|CNTN5_ENST00000528682.1_Missense_Mutation_p.P480H NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 480 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GCTTCAGCTCCCACTTTTGCA 0.368000 11 8 0.00136819 0.00139109 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576479 33576479 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:33576479C>G ENST00000504830.1 - 19 3987 c.3652G>C c.(3652-3654)Gaa>Caa p.E1218Q ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1133Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1218 Spacer 2. 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 AGCAGTCCTTCCATTACTGTG 0.542000 HNSCC(64;0.19) 9 145 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 7 73 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63380641 63380641 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:63380641C>T ENST00000409120.1 - 10 5121 c.1571G>A c.(1570-1572)tGt>tAt p.C524Y WDPCP_ENST00000272321.7_Missense_Mutation_p.C716Y|WDPCP_ENST00000398544.3_Missense_Mutation_p.C557Y|WDPCP_ENST00000409199.1_Missense_Mutation_p.C524Y O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 716 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 TTCTGCATTACAGGTATTAGT 0.299000 22 25 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197128821 197128821 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:197128821G>T ENST00000367405.4 - 10 2466 c.2398C>A c.(2398-2400)Cag>Aag p.Q800K ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 GATACATTCTGTAACATCGTC 0.443000 56 125 5.57489e-27 6.36009e-27 1 1 0 MGAT5 4249 broad.mit.edu 37 2 135206286 135206286 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:135206286G>T ENST00000409645.1 + 17 2346 c.2094G>T c.(2092-2094)aaG>aaT p.K698N MGAT5_ENST00000281923.2_Missense_Mutation_p.K698N Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 698 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTGACCCTAAGAATAAGCACT 0.567000 5 219 8.12818e-05 8.40489e-05 1 1 0 BAI1 575 broad.mit.edu 37 8 143599522 143599522 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:143599522G>A ENST00000517894.1 + 19 3735 c.2841G>A c.(2839-2841)ccG>ccA p.P947P BAI1_ENST00000323289.5_Silent_p.P947P O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 947 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGACTCTGCCGTCGGTGACGC 0.647000 38 65 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97035169 97035169 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:97035169C>T ENST00000455200.1 + 17 2359 c.2064C>T c.(2062-2064)ccC>ccT p.P688P NCAPH_ENST00000427946.1_Silent_p.P563P|NCAPH_ENST00000240423.4_Silent_p.P699P Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 699 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) CCAGCCTGCCCCCTGTCATGG 0.428000 39 76 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55183204 55183204 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:55183204G>A ENST00000337714.3 + 2 612 c.379G>A c.(379-381)Gac>Aac p.D127N AKAP1_ENST00000539273.1_Missense_Mutation_p.D127N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D127N|AKAP1_ENST00000571629.1_Missense_Mutation_p.D127N|AKAP1_ENST00000314126.3_Missense_Mutation_p.D127N NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 127 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) ACGCAGAGATGACAGTACAAA 0.522000 32 47 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43465060 43465060 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:43465060G>A ENST00000039989.4 + 17 2451 c.2437G>A c.(2437-2439)Ggt>Agt p.G813S TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.G870S NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 813 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 GCTGAAGAAAGGTCCCCAGGA 0.488000 8 97 0 0 1 0 0 TULP3 7289 broad.mit.edu 37 12 3040245 3040245 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:3040245G>C ENST00000448120.2 + 6 586 c.535G>C c.(535-537)Gat>Cat p.D179H TULP3_ENST00000397132.2_Missense_Mutation_p.D179H NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 179 TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1). G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCAACCAGCTGATAACCTCCT 0.507000 48 80 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576554 33576554 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:33576554C>G ENST00000504830.1 - 19 3912 c.3577G>C c.(3577-3579)Gaa>Caa p.E1193Q ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1108Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1193 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.E1193K(1) 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 AGTGGCATTTCTGTACTTTCC 0.512000 HNSCC(64;0.19) 16 140 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15552335 15552335 + Splice_Site SNP T T A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:15552335T>A ENST00000357607.2 + 12 1208 c.1020T>A c.(1018-1020)aaT>aaA p.N340K BMX_ENST00000348343.6_Splice_Site_p.N340K|BMX_ENST00000342014.6_Splice_Site_p.N340K P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 340 SH2. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) CTGTTACTAGTGATAAAAAAG 0.303000 16 54 0 0 1 0 0 CIRBP 1153 broad.mit.edu 37 19 1271012 1271012 + Nonsense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:1271012C>G ENST00000589710.1 + 2 227 c.80C>G c.(79-81)tCa>tGa p.S27* CIRBP_ENST00000413636.2_Nonsense_Mutation_p.S27*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000444172.2_Missense_Mutation_p.Q10E|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.S27*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.S27*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.S27* Q14011 CIRBP_HUMAN cold inducible RNA binding protein 27 RRM. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) CAGGTCTTCTCAAAGTACGGA 0.592000 5 250 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238287358 238287358 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:238287358T>C ENST00000295550.4 - 6 2870 c.2418A>G c.(2416-2418)ccA>ccG p.P806P COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000409809.1_Silent_p.P600P|COL6A3_ENST00000392003.2_Silent_p.P399P|COL6A3_ENST00000392004.3_Silent_p.P600P|COL6A3_ENST00000353578.4_Silent_p.P600P|COL6A3_ENST00000347401.3_Silent_p.P605P NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 806 Nonhelical region.|VWFA 4. 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) GAGGCAAAGCTGGCAGGGAGC 0.527000 39 65 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896928 175896928 + Silent SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:175896928A>T ENST00000359240.3 + 5 922 c.252A>T c.(250-252)acA>acT p.T84T ADAM29_ENST00000404450.4_Silent_p.T84T|ADAM29_ENST00000445694.1_Silent_p.T84T|ADAM29_ENST00000514159.1_Silent_p.T84T NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 84 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) TCACCTACACAGACCAGGGTG 0.478000 20 38 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45605269 45605269 + Nonsense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:45605269G>A ENST00000267430.5 + 1 120 c.35G>A c.(34-36)tGg>tAg p.W12* FANCM_ENST00000556036.1_Nonsense_Mutation_p.W12*|FANCM_ENST00000542564.2_Nonsense_Mutation_p.W12* NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 12 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTTCAGACGTGGGGCTCAAGT 0.587000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 47 81 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17843094 17843094 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:17843094A>G ENST00000409389.1 - 21 2379 c.2207T>C c.(2206-2208)aTg>aCg p.M736T SNX13_ENST00000428135.3_Missense_Mutation_p.M725T|SNX13_ENST00000496855.1_5'UTR Q9Y5W8 SNX13_HUMAN sorting nexin 13 736 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) CATTTTGCCCATGTTGTCTGA 0.338000 14 16 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1806088 1806088 + Silent SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:1806088G>T ENST00000340107.4 + 9 1369 c.1113G>T c.(1111-1113)gcG>gcT p.A371A FGFR3_ENST00000481110.2_Silent_p.A369A|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Silent_p.A369A|FGFR3_ENST00000440486.2_Silent_p.A369A|FGFR3_ENST00000352904.1_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 369 S -> C (in KERSEB and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.A369A(6)|p.A369_G370>VC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CTGACGAGGCGGGCAGTGTGT 0.692000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 101 150 2.1459e-41 2.5191e-41 1 1 0 LTBR 4055 broad.mit.edu 37 12 6499851 6499851 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:6499851C>T ENST00000228918.4 + 10 1382 c.1056C>T c.(1054-1056)ggC>ggT p.G352G LTBR_ENST00000539925.1_Silent_p.G333G|LTBR_ENST00000541102.1_Silent_p.G209G NM_002342.2 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 352 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 ATGTCACCGGCGGGTCTATGA 0.562000 96 98 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10663675 10663675 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:10663675C>T ENST00000309469.4 + 10 1530 c.1357C>T c.(1357-1359)Cgg>Tgg p.R453W ATG4D_ENST00000540862.1_Missense_Mutation_p.R120W NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 453 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GCCCACACTCCGGCTCCCTCG 0.617000 10 83 0 0 1 0 0 TRAV18 28665 broad.mit.edu 37 14 22471897 22471897 + RNA SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:22471897A>G ENST00000390446.3 + 0 425 GCCGTGTACTACTGCGCTCTG 0.607000 15 34 0 0 1 0 0 SPRY4 81848 broad.mit.edu 37 5 141694316 141694316 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:141694316C>A ENST00000344120.4 - 3 613 c.427G>T c.(427-429)Gtg>Ttg p.V143L SPRY4_ENST00000434127.2_Missense_Mutation_p.V120L NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 120 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCAGCCACGGGTGGTGGT 0.662000 Testicular Cancer, Familial Clustering of 57 94 2.73381e-35 3.16341e-35 1 1 0 SLC10A1 6554 broad.mit.edu 37 14 70252943 70252943 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:70252943A>G ENST00000216540.4 - 2 571 c.438T>C c.(436-438)taT>taC p.Y146Y NM_003049.3 NP_003040.1 Q14973 NTCP_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 1 146 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) GGTCCCCATCATAGATCCCCC 0.522000 56 72 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32954330 32954330 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:32954330G>T ENST00000399302.2 + 4 1474 c.1139G>T c.(1138-1140)gGg>gTg p.G380V QSER1_ENST00000527788.1_Intron NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 380 Ser-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) ACTTTTTCTGGGTCATCTCAG 0.383000 46 69 2.13384e-23 2.38951e-23 1 1 0 HIPK2 28996 broad.mit.edu 37 7 139416296 139416296 + Missense_Mutation SNP T T A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:139416296T>A ENST00000406875.3 - 2 632 c.538A>T c.(538-540)Agc>Tgc p.S180C HIPK2_ENST00000428878.2_Missense_Mutation_p.S180C|HIPK2_ENST00000342645.6_Missense_Mutation_p.S180C NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 180 Transcriptional corepression (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TCGCCCTCGCTGTTGGAGCCG 0.572000 66 83 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72298716 72298716 + RNA SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:72298716G>T ENST00000438904.2 - 0 37 TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA 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 GTTCGCACTGGTACTGCGAGA 0.652000 9 15 1.12685e-05 1.17521e-05 1 1 0 KLHL34 257240 broad.mit.edu 37 X 21675187 21675187 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:21675187A>G ENST00000379499.2 - 1 1261 c.720T>C c.(718-720)tcT>tcC p.S240S NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 240 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCACGAGGCCAGAGCCCGAGT 0.672000 6 19 0 0 1 0 0 CELF6 60677 broad.mit.edu 37 15 72608188 72608188 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:72608188C>T ENST00000287202.5 - 2 597 c.343G>A c.(343-345)Ggg>Agg p.G115R CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569547.1_Missense_Mutation_p.G115R|CELF6_ENST00000567083.1_Missense_Mutation_p.G115R NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 115 RRM 1. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 GGACTTACCCCTGGCAGGGTC 0.642000 3 9 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62442653 62442653 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:62442653T>C ENST00000281156.4 - 7 1105 c.827A>G c.(826-828)tAc>tGc p.Y276C NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) TTCACCCCCGTAGCCATCATC 0.383000 26 43 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126732390 126732390 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:126732390G>A ENST00000274473.6 + 7 846 c.579G>A c.(577-579)caG>caA p.Q193Q MEGF10_ENST00000508365.1_Silent_p.Q193Q|MEGF10_ENST00000503335.2_Silent_p.Q193Q|MEGF10_ENST00000418761.2_Silent_p.Q193Q NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 193 EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ACTGTCATCAGAGATGCCAGT 0.642000 56 80 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168244341 168244341 + Missense_Mutation SNP C C T rs143627388 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:168244341C>T ENST00000519560.1 - 8 1176 c.757G>A c.(757-759)Gtg>Atg p.V253M SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 253 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATCCGCCACGTTGAAGCCC 0.597000 8 91 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228860382 228860382 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:228860382C>T ENST00000392056.3 - 8 4523 c.4477G>A c.(4477-4479)Gag>Aag p.E1493K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1493K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1493 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTTCAGCCTCTGGTACATCT 0.557000 23 45 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32786414 32786414 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:32786414G>A ENST00000265074.8 + 8 1932 c.1589G>A c.(1588-1590)cGg>cAg p.R530Q NPR3_ENST00000415167.2_Missense_Mutation_p.R529Q|NPR3_ENST00000434067.2_Missense_Mutation_p.R314Q|NPR3_ENST00000415685.2_Missense_Mutation_p.R313Q NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 530 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) CGGGAATTACGGGAAGATTCC 0.418000 7 13 0 0 1 0 0 FER 2241 broad.mit.edu 37 5 108523160 108523160 + Missense_Mutation SNP T T G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:108523160T>G ENST00000281092.4 + 20 2737 c.2353T>G c.(2353-2355)Tgt>Ggt p.C785G FER_ENST00000438717.2_Missense_Mutation_p.C610G NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 785 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TCCCCAGCACTGTCCAGAGGA 0.423000 4 100 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55086932 55086932 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:55086932C>T ENST00000251377.3 + 6 998 c.865C>T c.(865-867)Cac>Tac p.H289Y LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.H289Y(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCCCTCCCACGGGGGCCA 0.647000 4 102 0 0 1 0 0 GEMIN2 8487 broad.mit.edu 37 14 39597482 39597482 + Splice_Site SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:39597482A>T ENST00000308317.6 + 7 647 c.e7-1 GEMIN2_ENST00000250379.8_Splice_Site|GEMIN2_ENST00000396249.2_Splice_Site NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding TTTTTTTTTTAGGCAACAGTA 0.308000 4 67 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186014962 186014962 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:186014962C>T ENST00000271588.4 + 41 6676 c.6447C>T c.(6445-6447)ggC>ggT p.G2149G HMCN1_ENST00000367492.2_Silent_p.G2149G NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2149 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AGAAACCAGGCCTCAGTATAT 0.378000 25 58 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73071232 73071232 + RNA SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:73071232G>A ENST00000429829.1 - 0 1356 NR_001564.2 CTGTGTGACCGCACATGTCCA 0.532000 5 236 0 0 1 0 0 PEX11B 8799 broad.mit.edu 37 1 145518173 145518173 + Missense_Mutation SNP A A G rs146562689 byFrequency TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:145518173A>G ENST00000369306.3 + 3 424 c.275A>G c.(274-276)aAt>aGt p.N92S PEX11B_ENST00000537888.1_Missense_Mutation_p.N78S NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 92 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGTCACCTCAATCGAGCCTTG 0.532000 5 240 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056507 26056507 + Silent SNP G G A rs150897775 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:26056507G>A ENST00000343677.2 - 1 192 c.150C>T c.(148-150)gcC>gcT p.A50A NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 50 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 GCTCTTTAGAGGCGGCCACAG 0.567000 55 89 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155030474 155030474 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:155030474G>A ENST00000356955.2 + 14 1665 c.1564G>A c.(1564-1566)Ggg>Agg p.G522R ADAM15_ENST00000368410.2_Missense_Mutation_p.G228R|ADAM15_ENST00000449910.2_Missense_Mutation_p.G522R|ADAM15_ENST00000360674.4_Missense_Mutation_p.G522R|ADAM15_ENST00000355956.2_Missense_Mutation_p.G522R|ADAM15_ENST00000447332.3_Missense_Mutation_p.G506R|ADAM15_ENST00000368413.1_Missense_Mutation_p.G228R|ADAM15_ENST00000368412.3_Missense_Mutation_p.G522R|ADAM15_ENST00000531455.1_Missense_Mutation_p.G532R|ADAM15_ENST00000271836.6_Missense_Mutation_p.G522R|ADAM15_ENST00000359280.4_Missense_Mutation_p.G522R|ADAM15_ENST00000472434.1_3'UTR NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 522 Cys-rich. angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GTGCATGCACGGGCGTTGTGC 0.632000 39 108 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55525777 55525777 + Silent SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:55525777A>G ENST00000219070.4 + 8 1754 c.1245A>G c.(1243-1245)caA>caG p.Q415Q MMP2_ENST00000570308.1_Silent_p.Q339Q|MMP2_ENST00000437642.2_Silent_p.Q365Q|MMP2_ENST00000543485.1_Silent_p.Q339Q NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 415 Collagenase-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) AGCACTCCCAAGACCCTGGGG 0.577000 41 75 0 0 1 0 0 DAPK2 23604 broad.mit.edu 37 15 64275760 64275760 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:64275760G>T ENST00000261891.3 - 2 291 c.286C>A c.(286-288)Cgc>Agc p.R96S DAPK2_ENST00000558069.1_Missense_Mutation_p.R96S|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000457488.1_Missense_Mutation_p.R96S Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 96 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) ACGTCGGTGCGGTTCTCATAG 0.652000 37 66 1.52319e-26 1.72155e-26 1 1 0 PLXNA4 91584 broad.mit.edu 37 7 131865461 131865461 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:131865461C>T ENST00000359827.3 - 19 4485 c.3523G>A c.(3523-3525)Ggc>Agc p.G1175S PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1175S Q9HCM2 PLXA4_HUMAN plexin A4 1175 IPT/TIG 4. 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 TTCACGTTGCCCCCAGCCACA 0.597000 4 62 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103602 55103602 + Silent SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr18:55103602C>A ENST00000491143.2 + 1 686 c.654C>A c.(652-654)ccC>ccA p.P218P NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 218 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGGAGATGCCCGGCATGAGCC 0.687000 20 29 0.00741294 0.0075056 1 1 0 KLHL15 80311 broad.mit.edu 37 X 24024257 24024257 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:24024257T>C ENST00000328046.8 - 3 809 c.554A>G c.(553-555)gAt>gGt p.D185G NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 185 BACK. autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 ATGATCATTATCCAAGTAAGA 0.478000 79 17 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74880637 74880637 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:74880637T>C ENST00000241436.4 + 9 1284 c.1112T>C c.(1111-1113)aTt>aCt p.I371T POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Intron|POLK_ENST00000504026.1_Missense_Mutation_p.I371T|POLK_ENST00000380481.3_Missense_Mutation_p.I281T|POLK_ENST00000352007.5_Intron|POLK_ENST00000515295.1_Missense_Mutation_p.I371T NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 371 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CTTGGAATTATTACATGTACA 0.333000 DNA polymerases (catalytic subunits) 23 33 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158528300 158528300 + Splice_Site SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:158528300C>T ENST00000251527.5 - 20 2546 c.e20-1 ESYT2_ENST00000435514.2_Splice_Site NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GAAATCAAAGCTGAAATAGGA 0.428000 66 83 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511786 169511786 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:169511786G>A ENST00000367796.3 - 13 2758 c.2557C>T c.(2557-2559)Cgt>Tgt p.R853C F5_ENST00000367797.3_Missense_Mutation_p.R848C P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 848 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GAAAGTAGACGTATCCCTGTG 0.458000 97 233 0 0 1 0 0 IQCF1 132141 broad.mit.edu 37 3 51929352 51929352 + Splice_Site SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:51929352G>T ENST00000310914.5 - 4 234 c.172C>A c.(172-174)Ccc>Acc p.P58T NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 58 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTTTCTGGGGGCTTTCAAGAA 0.562000 30 42 1.2476e-16 1.36561e-16 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13766144 13766144 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:13766144G>A ENST00000265104.4 - 59 10146 c.10042C>T c.(10042-10044)Ccc>Tcc p.P3348S DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3348 Stalk (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) TGCCAGGAGGGCATGGTACAG 0.468000 Kartagener syndrome 8 147 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125113410 125113410 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:125113410C>A ENST00000522917.1 + 38 5162 c.4956C>A c.(4954-4956)aaC>aaA p.N1652K FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.N1652K NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1652 C2 6. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAGAGGGCAACTTCAACTGGC 0.433000 29 50 3.73808e-20 4.14774e-20 1 1 0 DDI1 414301 broad.mit.edu 37 11 103908520 103908520 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:103908520C>A ENST00000302259.3 + 1 1213 c.970C>A c.(970-972)Caa>Aaa p.Q324K PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 324 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) ACTTGAGGATCAACCCATGGA 0.448000 46 83 1.06522e-23 1.19837e-23 1 1 0 FNIP1 96459 broad.mit.edu 37 5 131006321 131006321 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:131006321T>C ENST00000307968.7 - 14 2858 c.2859A>G c.(2857-2859)tcA>tcG p.S953S FNIP1_ENST00000510461.1_Silent_p.S981S|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.S936S NM_001008738.2 NP_001008738 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CGATTAACTTTGACCTGGAAG 0.373000 43 60 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606409 139606409 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:139606409G>A ENST00000303045.6 - 63 4912 c.4466C>T c.(4465-4467)cCg>cTg p.P1489L COL22A1_ENST00000435777.1_Missense_Mutation_p.P1469L|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1489 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) CATGTACGCCGGGGGCATCTG 0.592000 HNSCC(7;0.00092) 44 52 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20180780 20180780 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:20180780G>A ENST00000524983.2 - 2 714 c.426C>T c.(424-426)ttC>ttT p.F142F DBX1_ENST00000227256.3_Silent_p.F142F A6NMT0 DBX1_HUMAN developing brain homeobox 1 142 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F142F(2) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 AAGACCCTTCGAAGTAGGGAA 0.602000 7 128 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28358782 28358782 + Splice_Site SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:28358782C>A ENST00000337532.5 - 14 1400 c.e14-1 MPP7_ENST00000375719.3_Splice_Site|MPP7_ENST00000445954.2_Splice_Site|MPP7_ENST00000540098.1_Splice_Site|MPP7_ENST00000375732.1_Splice_Site NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 CCCACGGGACCTGAAAAACAG 0.458000 13 16 5.50884e-06 5.77003e-06 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) 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) GAGGGGTGGCGTGACCTGTGG 0.597000 5 4 0 0 1 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131727 82131727 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:82131727C>G ENST00000199936.4 + 5 1043 c.850C>G c.(850-852)Ctg>Gtg p.L284V RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 284 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GAAGGACATTCTGGACCACCT 0.527000 4 101 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65146799 65146799 + Silent SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:65146799T>C ENST00000381210.3 - 11 1034 c.924A>G c.(922-924)ggA>ggG p.G308G TECRL_ENST00000507440.1_Silent_p.G308G NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 308 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TAATCCATGATCCAATCTGTT 0.279000 13 14 0 0 1 0 0 PINX1 54984 broad.mit.edu 37 8 10623339 10623339 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:10623339C>T ENST00000314787.3 - 7 678 c.559G>A c.(559-561)Gca>Aca p.A187T PINX1_ENST00000519088.1_Missense_Mutation_p.G161D|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000426190.2_Missense_Mutation_p.G159D|SOX7_ENST00000554914.1_Intron NM_017884.4 NP_060354.4 PIN2/TERF1 interacting, telomerase inhibitor 1 kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TTCAGTGCTGCCATCCGCTTG 0.547000 162 171 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509636 106509636 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:106509636C>T ENST00000359195.3 + 2 1940 c.1630C>T c.(1630-1632)Cga>Tga p.R544* PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544* NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 544 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGACCGGGTTCGAGCAGAAAT 0.542000 43 66 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126241857 126241857 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:126241857G>C ENST00000394329.3 + 1 4304 c.4291G>C c.(4291-4293)Gag>Cag p.E1431Q NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1431 Cadherin 14. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCTATTGTTGAGAACATTCC 0.423000 12 154 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22922604 22922604 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:22922604G>T ENST00000166244.3 + 9 1775 c.1703G>T c.(1702-1704)tGt>tTt p.C568F NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 568 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCAGGCACTGTGGCTACAGC 0.637000 40 50 8.16277e-20 9.01615e-20 1 1 0 HCN4 10021 broad.mit.edu 37 15 73616453 73616453 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:73616453G>C ENST00000261917.3 - 7 3113 c.2120C>G c.(2119-2121)gCg>gGg p.A707G NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 707 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GCGGTCCAGCGCCACGGTCTC 0.657000 4 100 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1654058 1654058 + Translation_Start_Site SNP C C T rs61777495 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:1654058C>T ENST00000356200.3 - 0 212 CDK11A_ENST00000358779.5_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378633.1_Intron cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 AAGAACTTCACCGAAGAAGCG 0.338000 5 2 0 0 1 0 0 C1orf95 375057 broad.mit.edu 37 1 226784667 226784667 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:226784667A>G ENST00000366788.3 + 2 472 c.367A>G c.(367-369)Atg>Gtg p.M123V C1orf95_ENST00000366789.4_Missense_Mutation_p.M123V NM_001003665.3 NP_001003665.1 Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 123 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) GGGCATGGACATGGTCATCCT 0.592000 13 200 0 0 1 0 0 MXD4 10608 broad.mit.edu 37 4 2252898 2252898 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr4:2252898G>A ENST00000337190.2 - 5 698 c.385C>T c.(385-387)Cgc>Tgc p.R129C NM_006454.2 NP_006445.1 Q14582 MAD4_HUMAN MAX dimerization protein 4 129 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|endometrium(1)|kidney(1)|lung(3) 6 TGCTCCAGGCGCCGCTTCAGG 0.662000 8 10 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659764 24659764 + RNA SNP C C G rs143464834 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:24659764C>G ENST00000414583.2 + 0 3289 NR_003714.1 AGTGTCCTAACAGCCCTGCTT 0.627000 4 22 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21335037 21335037 + Splice_Site SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr22:21335037C>G ENST00000399167.2 + 20 1999 c.1759C>G c.(1759-1761)Ctg>Gtg p.L587V AIFM3_ENST00000465606.1_Intron|AIFM3_ENST00000440238.2_Splice_Site_p.L587V|AIFM3_ENST00000405089.1_Intron|AIFM3_ENST00000399163.2_Intron|AIFM3_ENST00000333607.6_Intron|AIFM3_ENST00000335375.5_Intron|LZTR1_ENST00000479606.1_Intron NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TTCGTGAAGGCTGTTTGTGCT 0.522000 21 220 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888718 38888718 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:38888718C>T ENST00000450244.1 - 26 5041 c.4843G>A c.(4843-4845)Gag>Aag p.E1615K SCN11A_ENST00000456224.3_Missense_Mutation_p.E1577K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1615K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1615 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAAGGGTCCTCACTTTCTTCA 0.368000 13 144 0 0 1 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28965901 28965901 + Missense_Mutation SNP A A T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:28965901A>T ENST00000320805.4 + 3 551 c.476A>T c.(475-477)gAt>gTt p.D159V NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 159 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 GAGCTGGCAGATTCGAGTGGT 0.522000 89 149 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16035572 16035572 + Splice_Site SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:16035572C>T ENST00000402119.4 - 5 1072 c.646G>A c.(646-648)Gag>Aag p.E216K CYP4F11_ENST00000248041.8_Splice_Site_p.E216K|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000326742.8_Splice_Site_p.E216K NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AGGACTCACTCCTGACAATTG 0.517000 8 97 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21721207 21721207 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:21721207T>C ENST00000328843.6 + 31 5418 c.5387T>C c.(5386-5388)cTt>cCt p.L1796P DNAH11_ENST00000409508.3_Missense_Mutation_p.L1791P Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1796 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTGGGAGAACTTCCACCTGGA 0.388000 Kartagener syndrome 19 39 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216498861 216498861 + Missense_Mutation SNP C C T rs3820464 TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:216498861C>T ENST00000366943.2 - 6 1315 c.929G>A c.(928-930)cGg>cAg p.R310Q USH2A_ENST00000307340.3_Missense_Mutation_p.R310Q|USH2A_ENST00000366942.3_Missense_Mutation_p.R310Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 310 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGGTGGACCCGCGGGTGGCT 0.532000 HNSCC(13;0.011) 93 60 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56619289 56619289 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr17:56619289G>A ENST00000321691.3 - 2 1781 c.1600C>T c.(1600-1602)Cta>Tta p.L534L RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 534 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGACCTTTTAGCCACCAGATG 0.507000 41 74 0 0 1 0 0 CST9 128822 broad.mit.edu 37 20 23586272 23586272 + Nonsense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr20:23586272C>T ENST00000376971.3 - 1 241 c.230G>A c.(229-231)tGg>tAg p.W77* NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 77 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) ATCCTCCCTCCATGAACTCAG 0.532000 86 127 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44980911 44980911 + Missense_Mutation SNP T T A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:44980911T>A ENST00000221327.4 - 5 2068 c.1787A>T c.(1786-1788)cAg>cTg p.Q596L ZNF180_ENST00000592529.1_Missense_Mutation_p.Q569L|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q571L NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) ATGAGTTCTCTGATGTACAAC 0.423000 4 114 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248113003 248113003 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:248113003C>T ENST00000357191.3 + 1 844 c.844C>T c.(844-846)Cca>Tca p.P282S OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATCCTCACCCCAATGCTCAA 0.483000 32 108 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113074110 113074110 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:113074110G>A ENST00000409871.1 + 6 1212 c.811G>A c.(811-813)Gaa>Aaa p.E271K ZC3H6_ENST00000343936.4_Missense_Mutation_p.E271K NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 271 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 GCACACAGTGGAACACAAAGG 0.318000 13 16 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57100511 57100511 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:57100511G>A ENST00000278412.2 - 5 725 c.459C>T c.(457-459)aaC>aaT p.N153N NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 153 DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 CTGCGTCATCGTTTTGGTGGA 0.557000 76 98 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 134981802 134981802 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr10:134981802G>C ENST00000304613.3 + 3 367 c.346G>C c.(346-348)Ggg>Cgg p.G116R KNDC1_ENST00000368571.2_Missense_Mutation_p.G51R|KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368572.2_Missense_Mutation_p.G116R Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 116 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CGACGTGACCGGGAACACCTT 0.562000 63 98 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119065048 119065048 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:119065048G>A ENST00000328252.3 + 10 3335 c.2966G>A c.(2965-2967)cGg>cAg p.R989Q RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.R27Q NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 989 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GAACCCAGCCGGTGCTATTTC 0.453000 18 45 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58038711 58038711 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:58038711G>A ENST00000556826.1 - 5 1070 c.834C>T c.(832-834)acC>acT p.T278T SLC35F4_ENST00000554729.1_Silent_p.T155T|SLC35F4_ENST00000339762.6_Silent_p.T314T NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGACAATGCCGGTAATTGCCA 0.433000 9 12 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38926797 38926797 + Missense_Mutation SNP C C G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:38926797C>G ENST00000450244.1 - 17 3244 c.3046G>C c.(3046-3048)Gag>Cag p.E1016Q SCN11A_ENST00000456224.3_Missense_Mutation_p.E978Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1016Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.E1016Q Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1016 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAACATCTCTCTGGTTGCTTT 0.428000 8 80 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71357850 71357850 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:71357850G>T ENST00000244230.2 + 1 407 c.55G>T c.(55-57)Ggc>Tgc p.G19C MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G19C NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 19 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GACGGAAGTCGGCAAAGCCAC 0.672000 20 20 2.21704e-12 2.40509e-12 1 1 0 UBQLN2 29978 broad.mit.edu 37 X 56591910 56591910 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:56591910G>A ENST00000338222.5 + 1 1885 c.1604G>A c.(1603-1605)gGg>gAg p.G535E NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 535 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 GGCCCCACGGGGCCTACTGTG 0.622000 5 1 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221088 140221088 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:140221088C>A ENST00000531613.1 + 1 182 c.182C>A c.(181-183)cCg>cAg p.P61Q PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P61Q|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGTGCCGCGCCTGTTC 0.637000 100 149 6.00419e-47 7.11716e-47 1 1 0 ITIH4 3700 broad.mit.edu 37 3 52857966 52857966 + Missense_Mutation SNP C C A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:52857966C>A ENST00000266041.4 - 10 1322 c.1226G>T c.(1225-1227)cGg>cTg p.R409L ITIH4_ENST00000434759.3_Missense_Mutation_p.R321L|ITIH4_ENST00000485816.1_Missense_Mutation_p.R409L|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.R409L|ITIH4_ENST00000346281.5_Missense_Mutation_p.R409L|RP5-966M1.6_ENST00000468472.1_3'UTR NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 409 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GAGGCTGTACCGGCCACTTAC 0.582000 34 75 6.90743e-12 7.46002e-12 1 1 0 STAB2 55576 broad.mit.edu 37 12 104067714 104067714 + Missense_Mutation SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:104067714A>G ENST00000388887.2 + 23 2605 c.2401A>G c.(2401-2403)Aac>Gac p.N801D NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 801 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 AACATGCAATAACAGGATAGA 0.592000 47 50 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280711 152280711 + Silent SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:152280711G>T ENST00000368799.1 - 3 6686 c.6651C>A c.(6649-6651)gcC>gcA p.A2217A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2217 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) TAGAGCTGTCGGCCCAAGAGG 0.552000 Ichthyosis 208 663 4.53876e-58 5.40646e-58 1 1 0 CHD1 1105 broad.mit.edu 37 5 98232075 98232075 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:98232075T>C ENST00000284049.3 - 11 1714 c.1565A>G c.(1564-1566)tAt>tGt p.Y522C NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 522 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATGAAACAAATAATTCAGAAA 0.363000 6 75 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139399556 139399556 + Splice_Site SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:139399556G>A ENST00000277541.6 - 26 4662 c.4587C>T c.(4585-4587)aaC>aaT p.N1529N NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1529 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTACAGGGGGCTGTGGGGGG 0.731000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 16 18 0 0 1 0 0 FOXA3 3171 broad.mit.edu 37 19 46375671 46375671 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:46375671G>C ENST00000302177.2 + 2 605 c.408G>C c.(406-408)aaG>aaC p.K136N NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 136 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) CGCCGGGCAAGATGCTGACCT 0.577000 5 268 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122626341 122626341 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:122626341G>A ENST00000319080.7 + 17 2874 c.2742G>A c.(2740-2742)aaG>aaA p.K914K MLXIP_ENST00000538698.1_Silent_p.K521K Q9HAP2 MLXIP_HUMAN MLX interacting protein regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGATTGGCAAGAGATTGGGAG 0.622000 40 73 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139872040 139872040 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:139872040C>T ENST00000224167.2 + 1 85 c.10C>T c.(10-12)Cat>Tat p.H4Y PTGDS_ENST00000371625.3_Missense_Mutation_p.H4Y P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 4 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) AATGGCTACTCATCACACACT 0.672000 4 38 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30100021 30100021 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:30100021C>T ENST00000331968.5 - 10 1828 c.1599G>A c.(1597-1599)gaG>gaA p.E533E PRKD1_ENST00000415220.2_Silent_p.E541E NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 533 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGATGGCTATCTCCCACATCC 0.522000 9 135 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29589570 29589570 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:29589570C>T ENST00000377034.4 - 10 1425 c.1090G>A c.(1090-1092)Gga>Aga p.G364R GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R|GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 364 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) TAGAAAAGTCCCACGATGATT 0.527000 43 54 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881544 33881544 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:33881544G>T ENST00000504830.1 - 2 504 c.169C>A c.(169-171)Cca>Aca p.P57T ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P57T|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P57T NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 57 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 ACTCGGACTGGACCCACCACG 0.488000 HNSCC(64;0.19) 12 213 6.40141e-05 6.64762e-05 1 1 0 CYP4F2 8529 broad.mit.edu 37 19 15990419 15990419 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:15990419G>A ENST00000221700.6 - 11 1404 c.1309C>T c.(1309-1311)Cct>Tct p.P437S NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CGCACCTCAGGGTCCGGCCAC 0.557000 72 153 0 0 1 0 0 RNPS1 10921 broad.mit.edu 37 16 2305696 2305696 + Silent SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:2305696G>A ENST00000565678.1 - 7 1253 c.708C>T c.(706-708)acC>acT p.T236T RNPS1_ENST00000320225.5_Silent_p.T236T|RNPS1_ENST00000561718.1_Silent_p.T59T|RNPS1_ENST00000397086.2_Silent_p.T236T|RNPS1_ENST00000569598.2_Silent_p.T142T|RNPS1_ENST00000566458.1_Silent_p.T213T|RNPS1_ENST00000566397.1_Silent_p.T59T|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000301730.8_Silent_p.T236T|RNPS1_ENST00000568631.1_Silent_p.T236T|AC009065.1_ENST00000454671.1_Silent_p.A146A Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 236 Necessary for interaction with PNN and exon-skipping.|RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 CCAGCACGGCGGTGGCAGTGA 0.562000 20 36 0 0 1 0 0 CACNG7 59284 broad.mit.edu 37 19 54444722 54444722 + Splice_Site SNP A A G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr19:54444722A>G ENST00000391767.1 + 5 636 c.e5-1 CACNG7_ENST00000222212.2_Splice_Site|CACNG7_ENST00000468076.1_Splice_Site|CACNG7_ENST00000391766.1_Splice_Site P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CTGCTCCCCTAGGCCTCTCCT 0.582000 10 133 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346616 102346616 + Missense_Mutation SNP G G C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:102346616G>C ENST00000328882.4 + 1 715 c.694G>C c.(694-696)Ggt>Cgt p.G232R NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) ATCTTCAGGTGGTATATTCAA 0.353000 54 115 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021608 132021608 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:132021608C>T ENST00000356920.5 + 15 2674 c.2580C>T c.(2578-2580)acC>acT p.T860T PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 860 Actin-like. ATP binding p.T860T(1) ACGGGGTCACCCACACTGTGC 0.617000 61 121 0 0 1 0 0 FBP1 2203 broad.mit.edu 37 9 97365704 97365704 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:97365704G>T ENST00000415431.1 - 8 1205 c.976C>A c.(976-978)Ctc>Atc p.L326I FBP1_ENST00000375326.4_Missense_Mutation_p.L326I NM_001127628.1 NP_001121100.1 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 326 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding kidney(1)|liver(1)|lung(1) 3 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) AGGAACTCGAGCACGTCGTCG 0.587000 OREG0019330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 20 4.96729e-08 5.29409e-08 1 1 0 KRT6C 286887 broad.mit.edu 37 12 52862934 52862934 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:52862934C>T ENST00000252250.6 - 9 1654 c.1607G>A c.(1606-1608)gGg>gAg p.G536E NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 536 Tail. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GAGGCCACCCCCAATGGCTCT 0.592000 25 72 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17292142 17292142 + Missense_Mutation SNP G G A TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr16:17292142G>A ENST00000261381.6 - 5 1300 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 406 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGGAGGTCCCGCATGCTCTGC 0.632000 5 101 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161300200 161300200 + Silent SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:161300200C>T ENST00000428797.2 + 6 688 c.333C>T c.(331-333)ctC>ctT p.L111L GABRA1_ENST00000437025.2_Silent_p.L111L|GABRA1_ENST00000420560.1_Silent_p.L111L|GABRA1_ENST00000393943.4_Silent_p.L111L|GABRA1_ENST00000444819.1_Silent_p.L111L|GABRA1_ENST00000023897.6_Silent_p.L111L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 111 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TGACAGTCCTCCGGTTAAATA 0.393000 5 125 0 0 1 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58186750 58186750 + Missense_Mutation SNP C C T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr3:58186750C>T ENST00000483681.1 - 7 1101 c.520G>A c.(520-522)Gac>Aac p.D174N DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D144N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D174N|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D174N Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 174 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) TGTTTCACGTCCGTGTAGACC 0.547000 100 175 0 0 1 0 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr1:121116645delT ENST00000437515.1 - 0 329 NR_104189.1 CAAGCCCCCCTTTAAAAAAAA 0.393 7 87 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152420419 152420419 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:152420419delC ENST00000397345.3 - 118 18699 c.18497delG c.(18496-18498)ggcfs p.G6166fs NEB_ENST00000604864.1_Frame_Shift_Del_p.G6166fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.G6166fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.G4465fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.G4465fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.G6166fs NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 6160 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGCCTTGGTGCCCTCCCACGC 0.443 10 19 --- --- --- --- PGAP1 80055 broad.mit.edu 37 2 197781295 197781295 + Frame_Shift_Del DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:197781295delT ENST00000354764.4 - 3 438 c.324delA c.(322-324)gcafs p.A108fs PGAP1_ENST00000409475.1_Frame_Shift_Del_p.A108fs|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Frame_Shift_Del_p.A66fs NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 CTTTTCTAAGTGCAATGGAGC 0.378 28 26 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227906897 227906897 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr2:227906897delC ENST00000396625.3 - 37 3679 c.3472delG c.(3472-3474)gatfs p.D1158fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.D1158fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1158 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) ATCCCTGGATCCCCCTGGAGG 0.542 41 98 --- --- --- --- MCTP1 79772 broad.mit.edu 37 5 94207113 94207113 + Frame_Shift_Del DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr5:94207113delT ENST00000515393.1 - 14 2045 c.2046delA c.(2044-2046)aaafs p.K682fs MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K198fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K415fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K461fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K461fs NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 682 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AATGGATATCTTTAATGTTGC 0.338 25 36 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38810224 38810224 + Frame_Shift_Del DEL T T - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:38810224delT ENST00000359357.3 + 32 4150 c.3896delT c.(3895-3897)cttfs p.L1299fs DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L1516fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.L1299fs 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 TATGAAATACTTTGGGGAGAT 0.343 30 72 --- --- --- --- TRERF1 55809 broad.mit.edu 37 6 42236492 42236492 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr6:42236492delC ENST00000541110.1 - 5 1405 c.837delG c.(835-837)gggfs p.G279fs TRERF1_ENST00000340840.2_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.G279fs Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 279 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TACGCTGTTGCCCGGCTTGCT 0.597 64 118 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 3 4 --- --- --- --- SLC4A2 6522 broad.mit.edu 37 7 150761698 150761698 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:150761698delC ENST00000485713.1 + 4 1343 c.303delC c.(301-303)ggcfs p.G101fs SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.G92fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.G101fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.G87fs|SLC4A2_ENST00000310317.5_Splice_Site NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 101 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACCCCAGGGCCCAGGACGGA 0.682 55 75 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151877847 151877847 + Frame_Shift_Del DEL A A - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr7:151877847delA ENST00000355193.2 - 36 7316 c.7098delT c.(7096-7098)gatfs p.D2366fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.D2366fs lysine (K)-specific methyltransferase 2C TATTCTGTGTATCAGTTACTC 0.428 40 28 --- --- --- --- MROH6 642475 broad.mit.edu 37 8 144650796 144650796 + Frame_Shift_Del DEL G G - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr8:144650796delG ENST00000398882.3 - 10 1826 c.1570delC c.(1570-1572)ctgfs p.L524fs MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000534459.1_5'UTR NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 AGCTTCCGCAgggggccgcgg 0.736 2 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139395013 139395025 + Frame_Shift_Del DEL ACCTTGTGCGTCG ACCTTGTGCGTCG - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr9:139395013_139395025delACCTTGTGCGTCG ENST00000277541.6 - 31 5988_6000 c.5913_5925delCGACGCACAAGGT c.(5911-5925)gccgacgcacaaggtfs p.ADAQG1971fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1971 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCTGGAAGACACCTTGTGCGTCGGCAGACACAG 0.676 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 36 120 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61536739 61536739 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr11:61536739delC ENST00000278836.5 + 4 502 c.406delC c.(406-408)ccgfs p.P136fs TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.P127fs NM_001127392.1 NP_001120864.1 myelin regulatory factor CAGCACACTGCCGGACTCTCC 0.682 5 4 --- --- --- --- PLEKHA8P1 51054 broad.mit.edu 37 12 45567306 45567306 + RNA DEL A A - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:45567306delA ENST00000256692.5 - 0 1379 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGAGTTCCTAACCTGGGCTA 0.418 33 57 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49425478 49425478 + Frame_Shift_Del DEL G G - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:49425478delG ENST00000301067.7 - 39 13009 c.13010delC c.(13009-13011)cctfs p.P4338fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATGGGTGGGAGGGAGCTGGGC 0.617 17 16 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49442929 49442929 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:49442929delC ENST00000301067.7 - 12 3978 c.3979delG c.(3979-3981)gccfs p.A1327fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTTAGCCGGGCCCGTCCTCTA 0.572 7 22 --- --- --- --- FAM186B 84070 broad.mit.edu 37 12 49994518 49994518 + Frame_Shift_Del DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr12:49994518delC ENST00000544141.1 - 4 1234 c.635delG c.(634-636)ggafs p.G212fs PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000257894.2_Frame_Shift_Del_p.G302fs|FAM186B_ENST00000551047.1_Intron Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 302 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATGGTACCTTCCCCCTAAGAT 0.542 20 226 --- --- --- --- IGHG4 3503 broad.mit.edu 37 14 106092258 106092258 + RNA DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr14:106092258delC ENST00000390543.2 - 0 145 GGTGTGCACGCCGCTGGTCAG 0.652 14 74 --- --- --- --- LINC01581 101927112 broad.mit.edu 37 15 94577060 94577060 + RNA DEL C C - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr15:94577060delC ENST00000558874.1 - 0 1141 CCTCCTGTGTCCGCAGCCCTC 0.662 9 17 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47802020 47802020 + Frame_Shift_Del DEL G G - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chr18:47802020delG ENST00000591416.1 - 8 1173 c.742delC c.(742-744)cgcfs p.R248fs MBD1_ENST00000398495.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.R274fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.R248fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.R199fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.R199fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.R248fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.R248fs Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 248 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.R248C(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 AGACCAGGGCGGGGAGGGCGA 0.632 28 49 --- --- --- --- DDX3X 1654 broad.mit.edu 37 X 41205816 41205818 + In_Frame_Del DEL CAA CAA - TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:41205816_41205818delCAA ENST00000399959.2 + 14 2411_2413 c.1556_1558delCAA c.(1555-1560)ccaagt>cgt p.519_520PS>R DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_In_Frame_Del_p.503_504PS>R|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 519 Helicase C-terminal. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 TTTGACTTGCCAAGTGATATTGA 0.360 HNSCC(61;0.18) 10 76 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99661761 99661762 + Frame_Shift_Ins INS - - G TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx afb4bcde-56d9-42cb-b89d-9fc8559b3fa3 bf2c0de5-987d-420b-b60a-96b70ec19a41 g.chrX:99661761_99661762insG ENST00000373034.4 - 1 3509_3510 c.1834_1835insC c.(1834-1836)cgcfs p.R612fs PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.R612fs|PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.R612fs NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 612 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AAAGAAGCCGCGGTCGCCCTCG 0.564 42 11 --- --- --- ---