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 H3F3A 3020 broad.mit.edu 37 1 226253371 226253371 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:226253371C>T ENST00000366814.3 + 3 264 c.143C>T c.(142-144)gCg>gTg p.A48V H3F3A_ENST00000366813.1_Missense_Mutation_p.A48V|H3F3A_ENST00000366815.3_Missense_Mutation_p.A48V|H3F3A_ENST00000366816.1_Missense_Mutation_p.A48V H3 histone, family 3A central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 123 Breast(184;0.179) GBM - Glioblastoma multiforme(131;0.203) GGTACTGTGGCGCTCCGTGAA 0.403000 Mis glioma 7 52 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8934113 8934113 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:8934113C>A ENST00000256707.3 - 12 1284 c.1103G>T c.(1102-1104)gGa>gTa p.G368V KIDINS220_ENST00000473731.1_Missense_Mutation_p.G368V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G368V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G326V|KIDINS220_ENST00000319688.5_Missense_Mutation_p.G369V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 368 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GGGAGTATCTCCTTTCTGTAA 0.353000 13 45 2.61681e-11 3.0485e-11 1 1 0 CCNI2 645121 broad.mit.edu 37 5 132084084 132084084 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:132084084C>T ENST00000378731.1 + 2 526 c.475C>T c.(475-477)Cgg>Tgg p.R159W NM_001039780.2 NP_001034869.1 Q6ZMN8 CCNI2_HUMAN cyclin I family, member 2 159 regulation of cyclin-dependent protein kinase activity protein kinase binding haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTGGCTCCTGCGGCTTCAGAA 0.572000 4 100 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47187881 47187881 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:47187881C>T ENST00000524782.1 - 15 1711 c.1483G>A c.(1483-1485)Ggt>Agt p.G495S ARFGAP2_ENST00000319543.6_Missense_Mutation_p.G226S|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.G359S|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.G388S|ARFGAP2_ENST00000395449.3_5'UTR NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 495 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GACTTGACACCCTGCTTAAAC 0.552000 9 100 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463439 224463439 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:224463439C>T ENST00000305409.2 - 2 794 c.562G>A c.(562-564)Gaa>Aaa p.E188K NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 188 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GTATATTGTTCCTCCACTATT 0.443000 28 132 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658955 142658955 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:142658955C>T ENST00000355265.2 - 2 482 c.8G>A c.(7-9)gGt>gAt p.G3D KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 3 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TTGGTCCCCACCTTCCTGAAG 0.552000 23 100 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1331945 1331945 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:1331945C>G ENST00000320895.5 - 8 1202 c.945G>C c.(943-945)aaG>aaC p.K315N CLPTM1L_ENST00000320927.6_Missense_Mutation_p.K315N|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.K182N NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 315 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) TCATGCTCTTCTTCTTCTTCC 0.532000 5 36 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39780080 39780080 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:39780080C>A ENST00000518237.1 + 6 1086 c.447C>A c.(445-447)gaC>gaA p.D149E IDO1_ENST00000522495.1_Missense_Mutation_p.D149E|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 149 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) GGAACATGGACGTTTTGTTCT 0.358000 8 21 0.307466 0.307916 1 1 0 TRPC1 7220 broad.mit.edu 37 3 142509908 142509908 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:142509908G>T ENST00000273482.6 + 7 1634 c.1243G>T c.(1243-1245)Gac>Tac p.D415Y TRPC1_ENST00000476941.1_Missense_Mutation_p.D449Y NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 449 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity p.D415Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 AGGGTTGGAAGACTTTTTAGA 0.343000 3 54 1 1 1 1 0 TNFAIP8L2 79626 broad.mit.edu 37 1 151131418 151131418 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:151131418G>A ENST00000368910.3 + 2 371 c.245G>A c.(244-246)aGt>aAt p.S82N NM_024575.4 NP_078851.2 Q6P589 TP8L2_HUMAN tumor necrosis factor, alpha-induced protein 8-like 2 82 innate immune response lung(1)|skin(2) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTGGCCCCAGTGAGCTGGCC 0.617000 12 35 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103015222 103015222 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:103015222G>A ENST00000262457.2 + 10 1453 c.1268G>A c.(1267-1269)gGa>gAa p.G423E INVS_ENST00000262456.2_Missense_Mutation_p.G423E|INVS_ENST00000541287.1_Missense_Mutation_p.G327E NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 423 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) GACCAAGATGGACATTCTCTT 0.368000 5 37 0 0 1 0 0 OR10A6 390093 broad.mit.edu 37 11 7949320 7949320 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:7949320A>G ENST00000309838.2 - 1 889 c.890T>C c.(889-891)aTg>aCg p.M297T NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCCCTCTTCATCTCACTATT 0.423000 16 82 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128903486 128903486 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:128903486T>C ENST00000375990.3 + 18 2292 c.1889T>C c.(1888-1890)aTc>aCc p.I630T UGGT1_ENST00000259253.6_Missense_Mutation_p.I654T Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 654 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TTAGAAACCATCACAATGCAT 0.468000 21 74 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32734865 32734865 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:32734865G>C ENST00000421745.2 + 52 10175 c.10041G>C c.(10039-10041)atG>atC p.M3347I NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3347 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TAGAAGGAATGATGGCAAGTG 0.418000 5 164 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21300016 21300016 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:21300016G>A ENST00000596143.1 + 5 871 c.546G>A c.(544-546)aaG>aaA p.K182K ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 AAGTGTTTAAGCGGTTCTCAA 0.368000 8 95 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198505855 198505855 + Splice_Site SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:198505855C>G ENST00000309309.7 - 3 188 c.e3-1 ATP6V1G3_ENST00000367381.1_Intron|ATP6V1G3_ENST00000367382.1_Intron|ATP6V1G3_ENST00000489986.1_Intron|ATP6V1G3_ENST00000281087.2_Intron NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 AGATGCAGAACTTACAGCAGG 0.333000 10 99 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478100 79478100 + Silent SNP G G A rs77274428 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:79478100G>A ENST00000575842.1 - 4 1263 c.837C>T c.(835-837)ttC>ttT p.F279F ACTG1_ENST00000331925.2_Silent_p.F279F|ACTG1_ENST00000575087.1_Silent_p.F279F|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Silent_p.F279F P63261 ACTG_HUMAN actin, gamma 1 279 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGATGGAGTTGAAGGTGGTCT 0.557000 37 86 0 0 1 0 0 TMEM219 124446 broad.mit.edu 37 16 29979543 29979543 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:29979543G>A ENST00000566848.1 + 3 1020 c.553G>A c.(553-555)Gaa>Aaa p.E185K TMEM219_ENST00000561899.2_Missense_Mutation_p.E185K|TMEM219_ENST00000414689.2_Missense_Mutation_p.E185K|TMEM219_ENST00000279396.6_Missense_Mutation_p.E185K Q86XT9 TM219_HUMAN transmembrane protein 219 185 integral to membrane large_intestine(1)|lung(1)|prostate(2) 4 CTGGAGCCATGAAGGCCTTGT 0.567000 17 73 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308166 72308166 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:72308166G>A ENST00000579490.1 + 11 1825 c.1690G>A c.(1690-1692)Gag>Aag p.E564K DNAI2_ENST00000446837.2_Missense_Mutation_p.E507K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E495K|DNAI2_ENST00000307504.5_Missense_Mutation_p.E364K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E507K Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 507 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GACCCGGCGAGAGAAGATCCT 0.652000 Kartagener syndrome 4 39 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 266334 266334 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:266334C>G ENST00000419098.1 - 4 322 c.312G>C c.(310-312)gaG>gaC p.E104D NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 GTCCACATTTCTCATATCTTC 0.343000 4 9 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289269 160289269 + Splice_Site SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:160289269T>C ENST00000392783.2 - 9 2394 c.1899A>G c.(1897-1899)tcA>tcG p.S633S BAZ2B_ENST00000355831.2_Splice_Site_p.S633S|BAZ2B_ENST00000343439.5_Splice_Site_p.S631S|BAZ2B_ENST00000392782.1_Splice_Site_p.S631S NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 633 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GAAAATAACCTGATTGGCTGT 0.308000 3 38 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52524266 52524266 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr13:52524266T>C ENST00000242839.4 - 11 2763 c.2607A>G c.(2605-2607)ggA>ggG p.G869G ATP7B_ENST00000344297.5_Silent_p.G707G|ATP7B_ENST00000400370.3_Silent_p.G439G|ATP7B_ENST00000448424.2_Silent_p.G791G|ATP7B_ENST00000400366.3_Silent_p.G758G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.G869G|ATP7B_ENST00000417240.2_Silent_p.G141G NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 869 G -> R (in WD).|G -> V (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) TTACAGTGCTTCCGGGTTTCT 0.507000 Wilson disease 3 45 0 0 1 0 0 FKBP4 2288 broad.mit.edu 37 12 2907949 2907949 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:2907949C>T ENST00000001008.4 + 4 658 c.471C>T c.(469-471)cgC>cgT p.R157R RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 157 negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) TACAGACTCGCGGTGAAGGCT 0.483000 5 55 0 0 1 0 0 FOXN2 3344 broad.mit.edu 37 2 48602108 48602108 + Silent SNP C C T rs144420824 by1000genomes TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:48602108C>T ENST00000340553.3 + 7 1083 c.822C>T c.(820-822)taC>taT p.Y274Y NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 274 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) AGAGGAGTTACGGCAATGCAT 0.388000 4 39 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33754520 33754520 + Silent SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:33754520A>C ENST00000358232.6 + 22 2460 c.2397A>C c.(2395-2397)gcA>gcC p.A799A ELP2_ENST00000423854.2_Silent_p.A729A|ELP2_ENST00000351393.6_Silent_p.A773A|ELP2_ENST00000350494.6_Silent_p.A794A|ELP2_ENST00000542824.1_Silent_p.A729A|ELP2_ENST00000442325.2_Silent_p.A864A NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 799 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 AGAAGGAAGCAGAAGGTGCTG 0.383000 13 31 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242681915 242681915 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:242681915G>A ENST00000321264.4 + 4 625 c.416G>A c.(415-417)aGc>aAc p.S139N D2HGDH_ENST00000342518.6_Missense_Mutation_p.S139N|D2HGDH_ENST00000537090.1_Missense_Mutation_p.S139N|D2HGDH_ENST00000403782.1_Missense_Mutation_p.S5N NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 139 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GTGGGTGGCAGCGTCCCCGTC 0.647000 6 39 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44596230 44596230 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:44596230C>A ENST00000372299.3 + 3 1030 c.972C>A c.(970-972)ttC>ttA p.F324L KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 324 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) CATGGTCTTTCTTCCGTTCTG 0.468000 21 84 6.33239e-15 7.47877e-15 1 1 0 PLK3 1263 broad.mit.edu 37 1 45271311 45271311 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:45271311C>A ENST00000372201.4 + 15 2141 c.1902C>A c.(1900-1902)cgC>cgA p.R634R PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 634 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) AGCGACTCCGCTATGCTCTGC 0.637000 6 62 0.00116845 0.0012201 1 1 0 ZNF609 23060 broad.mit.edu 37 15 64966179 64966179 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:64966179C>T ENST00000326648.3 + 4 1254 c.1126C>T c.(1126-1128)Cgt>Tgt p.R376C ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 376 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAAACGCATGCGTCCCAACAG 0.512000 6 112 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688747 65688747 + Nonsense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:65688747A>T ENST00000335257.6 + 9 1089 c.742A>T c.(742-744)Aaa>Taa p.K248* PITPNC1_ENST00000581322.1_Nonsense_Mutation_p.K248*|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 248 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CACCAACAAGAAAATCGGCAT 0.483000 4 89 0 0 1 0 0 FBXL12 54850 broad.mit.edu 37 19 9922216 9922216 + Missense_Mutation SNP C C A rs145046400 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:9922216C>A ENST00000247977.4 - 3 578 c.337G>T c.(337-339)Gac>Tac p.D113Y FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.D60Y|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000592067.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.D60Y NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 113 protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 ATGCTCAGGTCGGCCACGTGC 0.652000 15 99 1.15088e-07 1.30306e-07 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76350421 76350421 + Splice_Site SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:76350421G>T ENST00000307431.8 + 3 578 c.e3+1 CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000377504.4_Splice_Site|CNTNAP4_ENST00000476707.1_Splice_Site NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGAAGAGATGGTAAGTCTGCT 0.433000 6 16 3.59834e-05 3.9001e-05 1 1 0 SPPL3 121665 broad.mit.edu 37 12 121248685 121248685 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:121248685A>G ENST00000353487.2 - 2 531 c.28T>C c.(28-30)Tat>Cat p.Y10H NM_139015.4 NP_620584.2 Q8TCT6 PSL4_HUMAN signal peptide peptidase like 3 10 integral to membrane aspartic-type endopeptidase activity all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACCAGGGAATAGGCCCTAGAG 0.378000 21 82 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146466002 146466002 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:146466002T>A ENST00000442909.2 + 82 10713 c.9877T>A c.(9877-9879)Ttt>Att p.F3293I NBPF12_ENST00000309471.8_3'UTR|NBPF12_ENST00000446760.2_3'UTR neuroblastoma breakpoint family, member 12 ovary(2) 2 CAGAAGTGTGTTTTACTCATT 0.448000 19 202 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179439394 179439394 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:179439394T>C ENST00000589042.1 - 326 71689 c.71465A>G c.(71464-71466)tAt>tGt p.Y23822C TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y14882C|TTN_ENST00000460472.2_Missense_Mutation_p.Y14757C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y14949C|TTN_ENST00000591111.1_Missense_Mutation_p.Y22181C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y21254C|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22181 Fibronectin type-III 73. 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) CTTAAATGGATAGTTGGCAAC 0.463000 13 64 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67649690 67649690 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:67649690C>T ENST00000335894.4 + 7 711 c.645C>T c.(643-645)ttC>ttT p.F215F IQCH_ENST00000358767.3_Silent_p.F42F|IQCH_ENST00000546225.1_5'UTR NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 215 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CAGCCACTTTCACTATACCTC 0.408000 7 29 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62577212 62577212 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:62577212C>A ENST00000369908.5 - 4 782 c.483G>T c.(481-483)aaG>aaT p.K161N UCKL1_ENST00000358711.3_Missense_Mutation_p.K176N|UCKL1_ENST00000354216.6_Missense_Mutation_p.K176N|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.K176N NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 176 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CCTTGACACTCTTCCCCTGCT 0.582000 31 150 2.46105e-21 2.94724e-21 1 1 0 TRAK2 66008 broad.mit.edu 37 2 202260126 202260126 + Missense_Mutation SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:202260126A>C ENST00000332624.3 - 8 1239 c.811T>G c.(811-813)Tca>Gca p.S271A TRAK2_ENST00000430254.1_Missense_Mutation_p.S271A NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 271 early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 CTCTTCCCTGACAATTCTTCA 0.358000 16 113 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43292282 43292282 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:43292282C>T ENST00000374518.5 + 10 1653 c.1590C>T c.(1588-1590)tgC>tgT p.C530C NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAGAGGACTGCACTGCAGGAG 0.522000 6 38 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71876426 71876426 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:71876426G>C ENST00000307864.1 - 7 934 c.721C>G c.(721-723)Ctc>Gtc p.L241V AIFM2_ENST00000373248.1_Missense_Mutation_p.L241V|AIFM2_ENST00000482166.1_5'UTR NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 241 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 CCGGTGCAGAGAATCACCAGG 0.582000 OREG0020234 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 64 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768114 57768114 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:57768114C>G ENST00000371030.2 + 1 2040 c.2040C>G c.(2038-2040)gtC>gtG p.V680V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 680 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGACCCCTGTCCATGAGGACA 0.617000 3 27 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151829821 151829821 + Silent SNP G G C rs143448521 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:151829821G>C ENST00000535741.1 - 10 1823 c.1350C>G c.(1348-1350)ctC>ctG p.L450L LRBA_ENST00000510413.1_Silent_p.L450L|LRBA_ENST00000357115.3_Silent_p.L450L|LRBA_ENST00000507224.1_Silent_p.L450L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 450 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CCTGGAGCATGAGTGCATGTG 0.378000 14 69 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806528 54806528 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:54806528C>T ENST00000306858.7 + 5 2875 c.2759C>T c.(2758-2760)tCc>tTc p.S920F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 920 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGGCCAACGTCCAGTGAGCTT 0.438000 7 71 0 0 1 0 0 DDT 1652 broad.mit.edu 37 22 24313771 24313771 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:24313771C>T ENST00000404092.1 - 5 600 c.368G>A c.(367-369)gGc>gAc p.G123D DDTL_ENST00000215770.5_3'UTR|DDT_ENST00000350608.3_Missense_Mutation_p.G109D|DDT_ENST00000398344.4_Missense_Mutation_p.G109D P30046 DOPD_HUMAN D-dopachrome tautomerase 109 melanin biosynthetic process cytoplasm D-dopachrome decarboxylase activity|dopachrome isomerase activity|protein binding CCCTATCTTGCCAATCTGCCA 0.483000 4 55 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219423304 219423304 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:219423304C>A ENST00000258399.3 - 4 485 c.73G>T c.(73-75)Gga>Tga p.G25* USP37_ENST00000338465.5_Nonsense_Mutation_p.G25*|USP37_ENST00000418019.1_Nonsense_Mutation_p.G25*|USP37_ENST00000415516.1_Intron|USP37_ENST00000454775.1_Nonsense_Mutation_p.G25* NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 25 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TCAAAGGATCCTTCTTTCCAC 0.348000 6 173 8.12818e-05 8.6997e-05 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42041253 42041253 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:42041253C>T ENST00000372584.1 - 4 6183 c.5169G>A c.(5167-5169)caG>caA p.Q1723Q HIVEP3_ENST00000247584.5_Silent_p.Q1723Q|HIVEP3_ENST00000429157.2_Silent_p.Q1723Q|HIVEP3_ENST00000372583.1_Silent_p.Q1723Q|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1723 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCTCCCCTCTCTGGGAGGCAG 0.552000 5 172 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132686250 132686250 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:132686250G>C ENST00000420781.1 - 10 1231 c.1013C>G c.(1012-1014)gCc>gGc p.A338G FNBP1_ENST00000446176.2_Missense_Mutation_p.A348G|FNBP1_ENST00000355681.3_Intron|FNBP1_ENST00000478129.1_Intron Q96RU3 FNBP1_HUMAN formin binding protein 1 348 Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) Agagggtgaggcagaggcagg 0.537000 T MLL AML 4 10 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38770982 38770982 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:38770982C>G ENST00000359357.3 + 20 2532 c.2278C>G c.(2278-2280)Cta>Gta p.L760V DNAH8_ENST00000441566.1_Missense_Mutation_p.L760V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L977V 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 GGCTGACATTCTAAACCACAA 0.318000 8 42 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25470279 25470279 + RNA SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:25470279C>A ENST00000453082.2 + 0 1047 NR_003343.1 CCCTGGTCTCCTGCACTGAGC 0.562000 10 67 2.17888e-05 2.38043e-05 1 1 0 LPCAT3 10162 broad.mit.edu 37 12 7086336 7086336 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:7086336C>A ENST00000261407.4 - 12 1521 c.1436G>T c.(1435-1437)aGg>aTg p.R479M LPCAT3_ENST00000535021.1_5'UTR NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 479 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 CTTCTCTTTCCTTGGCACCAT 0.393000 16 50 2.31682e-05 2.52309e-05 1 1 0 FAM86A 196483 broad.mit.edu 37 16 5145470 5145470 + Missense_Mutation SNP G G A rs143508087 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:5145470G>A ENST00000427587.4 - 2 210 c.142C>T c.(142-144)Cgg>Tgg p.R48W FAM86A_ENST00000587133.1_Missense_Mutation_p.R48W|FAM86A_ENST00000458008.4_Missense_Mutation_p.R48W NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 48 p.R48W(1) endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 AAAATATCCCGCAGCAGCTCA 0.488000 17 96 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35873689 35873689 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:35873689G>C ENST00000314607.6 + 26 3957 c.3877G>C c.(3877-3879)Gag>Cag p.E1293Q ZMYM4_ENST00000373297.2_Missense_Mutation_p.E1204Q NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1293 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTTATCCAAGAGGTGCGGAG 0.408000 7 141 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70098687 70098687 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:70098687G>T ENST00000370598.1 + 32 5294 c.4473G>T c.(4471-4473)gaG>gaT p.E1491D BAI3_ENST00000238918.8_Missense_Mutation_p.E697D|BAI3_ENST00000546190.1_Missense_Mutation_p.E455D NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1491 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TAGACACAGAGGCAAAGGATG 0.453000 5 31 0.00116845 0.0012201 1 1 0 RTF1 23168 broad.mit.edu 37 15 41771355 41771355 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:41771355G>A ENST00000389629.4 + 16 1885 c.1873G>A c.(1873-1875)Ggt>Agt p.G625S NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 625 histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) TGCAAAATACGGTTCTGGAGT 0.493000 14 68 0 0 1 0 0 RCBTB2 1102 broad.mit.edu 37 13 49075883 49075883 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr13:49075883C>A ENST00000344532.3 - 12 1662 c.1239G>T c.(1237-1239)aaG>aaT p.K413N RCBTB2_ENST00000430805.2_Missense_Mutation_p.K418N|RCBTB2_ENST00000544492.1_Missense_Mutation_p.K139N NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 413 BTB 1. Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CTTACCGAATCTTGAGAAGGA 0.368000 5 45 3.59834e-05 3.9001e-05 1 1 0 RNF2 6045 broad.mit.edu 37 1 185069351 185069351 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:185069351C>T ENST00000367510.3 + 7 1217 c.929C>T c.(928-930)tCt>tTt p.S310F RNF2_ENST00000367509.4_Missense_Mutation_p.S238F NM_007212.3 NP_009143.1 Q99496 RING2_HUMAN ring finger protein 2 310 histone H2A monoubiquitination|transcription, DNA-dependent MLL1 complex|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2) 14 Breast(1374;0.000496) Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06) GGCTCTTTTTCTTTGGAATTG 0.323000 18 87 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48695694 48695694 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:48695694G>A ENST00000352832.5 + 30 5687 c.5315G>A c.(5314-5316)gGc>gAc p.G1772D CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1813D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1806D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1765D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1799D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1806D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1761D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1781D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1795D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1795D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1754D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1806D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1772D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1795D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1795D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1772D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1772D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1788D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1783D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1749D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1788D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1761D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1783D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1772D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1806D NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1806 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AATTGGAATGGCATTATGAAG 0.552000 10 71 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241798343 241798343 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:241798343T>C ENST00000366553.1 - 1 889 c.726A>G c.(724-726)ggA>ggG p.G242G OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 242 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CAATTAGCAATCCTTGAGAAT 0.333000 3 54 0 0 1 0 0 SYNGR4 23546 broad.mit.edu 37 19 48879560 48879560 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:48879560G>A ENST00000344846.2 + 5 940 c.690G>A c.(688-690)atG>atA p.M230I SYNGR4_ENST00000601610.1_3'UTR NM_012451.3 NP_036583.2 O95473 SNG4_HUMAN synaptogyrin 4 230 integral to membrane breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) GGCTTGCTATGATGCCTGACA 0.517000 8 26 0 0 1 0 0 TMEM252 169693 broad.mit.edu 37 9 71155530 71155530 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:71155530A>G ENST00000377311.3 - 1 253 c.201T>C c.(199-201)acT>acC p.T67T NM_153237.1 NP_694969.1 transmembrane protein 252 CTTTGCTTTCAGTCACCTGGC 0.557000 6 27 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849558 98849558 + RNA SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:98849558G>T ENST00000554295.1 - 0 1365 NR_033801.1 GCTCTGCCCAGGAAGACAGCA 0.478000 10 40 0.00621372 0.00641023 1 1 0 ADH1A 124 broad.mit.edu 37 4 100200705 100200705 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:100200705T>A ENST00000209668.2 - 8 1094 c.981A>T c.(979-981)gaA>gaT p.E327D RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 327 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TTGGGACACATTCTTTACTTT 0.313000 6 112 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43316397 43316397 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:43316397G>C ENST00000331495.3 + 11 1381 c.1045G>C c.(1045-1047)Gag>Cag p.E349Q FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.E349Q|CTD-2020K17.3_ENST00000587534.1_RNA NM_005892.3 NP_005883 O95466 FMNL_HUMAN formin-like 1 349 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CCTGCAATATGAGTTCACCCA 0.552000 3 69 0 0 1 0 0 C19orf10 56005 broad.mit.edu 37 19 4668610 4668610 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:4668610A>G ENST00000262947.3 - 2 257 c.222T>C c.(220-222)aaT>aaC p.N74N C19orf10_ENST00000599630.1_Silent_p.N74N NM_019107.3 NP_061980.1 Q969H8 CS010_HUMAN chromosome 19 open reading frame 10 74 ER-Golgi intermediate compartment|extracellular region haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) AACTCACCTCATTGGTCCCTC 0.403000 4 43 0 0 1 0 0 SOX9 6662 broad.mit.edu 37 17 70119709 70119709 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:70119709A>G ENST00000245479.2 + 3 1083 c.711A>G c.(709-711)ccA>ccG p.P237P NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 237 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CACCGACCCCACCCACCACCC 0.627000 20 128 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44592115 44592115 + Silent SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:44592115G>C ENST00000322927.2 - 9 1630 c.1530C>G c.(1528-1530)ctC>ctG p.L510L ZNF335_ENST00000426788.1_Silent_p.L355L NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CCCGCACCTTGAGCGAGGACC 0.612000 9 54 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157487 154157487 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:154157487A>G ENST00000360256.4 - 14 4778 c.4578T>C c.(4576-4578)ccT>ccC p.P1526P NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1526 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TAGTTTCCGTAGGGAATAGGT 0.468000 29 62 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113303575 113303575 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:113303575G>C ENST00000264852.4 + 8 1592 c.866G>C c.(865-867)cGa>cCa p.R289P SIDT1_ENST00000393830.3_Missense_Mutation_p.R289P NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 289 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AATCTACAGCGAAAAAAGAAC 0.353000 24 68 0 0 1 0 0 C9orf171 389799 broad.mit.edu 37 9 135374932 135374932 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:135374932A>G ENST00000343036.2 + 4 625 c.577A>G c.(577-579)Atg>Gtg p.M193V C9orf171_ENST00000393215.3_Missense_Mutation_p.M157V|C9orf171_ENST00000393216.2_Missense_Mutation_p.M157V NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 193 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 TGACCGGCGCATGAAGAAAGA 0.622000 32 57 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56777857 56777857 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:56777857C>A ENST00000423391.1 - 1 779 c.678G>T c.(676-678)caG>caT p.Q226H CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 226 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) TGACCATCTCCTGCTCAAAGT 0.557000 7 51 3.09899e-07 3.46298e-07 1 1 0 SERAC1 84947 broad.mit.edu 37 6 158549208 158549208 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:158549208C>T ENST00000367102.2 - 10 1088 c.947G>A c.(946-948)aGa>aAa p.R316K SERAC1_ENST00000367101.1_Missense_Mutation_p.R316K|SERAC1_ENST00000367104.3_Missense_Mutation_p.R316K Q96JX3 SRAC1_HUMAN serine active site containing 1 316 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CATTATATTTCTCTGTACTTT 0.393000 10 60 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 95993700 95993700 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:95993700A>G ENST00000324765.8 + 3 628 c.281A>G c.(280-282)tAt>tGt p.Y94C DIAPH2_ENST00000373054.4_Missense_Mutation_p.Y83C|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Y94C|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Y94C|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Y94C O60879 DIAP2_HUMAN diaphanous-related formin 2 94 cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 CAGCCATTATATGATGAACGA 0.318000 12 31 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95372703 95372703 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:95372703G>A ENST00000371447.3 + 1 359 c.221G>A c.(220-222)gGc>gAc p.G74D NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 74 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GAGGAGGGGGGCACCCCAGAG 0.662000 6 35 0 0 1 0 0 TCEB3 6924 broad.mit.edu 37 1 24077835 24077835 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:24077835C>G ENST00000418390.2 + 4 1089 c.818C>G c.(817-819)tCt>tGt p.S273C TCEB3_ENST00000609199.1_Missense_Mutation_p.S247C NM_003198.2 NP_003189.2 Q14241 ELOA1_HUMAN transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) 273 positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction integral to membrane DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) GAGCACAAATCTTCCCACAAG 0.542000 OREG0013232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 57 0 0 1 0 0 CASP2 835 broad.mit.edu 37 7 143000971 143000971 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:143000971G>A ENST00000310447.5 + 9 1303 c.1062G>A c.(1060-1062)ccG>ccA p.P354P CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 354 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) AAAAGTTGCCGAAGATGAGAC 0.498000 4 14 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4929160 4929160 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:4929160G>A ENST00000359350.4 + 1 561 c.561G>A c.(559-561)ctG>ctA p.L187L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATGAAGCTGGCCTGCTCTG 0.398000 10 119 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55597512 55597512 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:55597512G>T ENST00000288135.5 + 15 2257 c.2160G>T c.(2158-2160)gaG>gaT p.E720D NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 720 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTACTAATGAGTACATGGACA 0.458000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 7 37 3.09899e-07 3.46298e-07 1 1 0 CPZ 8532 broad.mit.edu 37 4 8613821 8613821 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:8613821G>A ENST00000429646.2 + 6 2912 c.119G>A c.(118-120)aGg>aAg p.R40K CPZ_ENST00000382480.2_Missense_Mutation_p.R295K|CPZ_ENST00000315782.6_Missense_Mutation_p.R421K|CPZ_ENST00000360986.4_Missense_Mutation_p.R432K Q66K79 CBPZ_HUMAN carboxypeptidase Z 432 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCGGAGAATAGGTGTGGAGGC 0.587000 3 16 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156346536 156346536 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:156346536C>T ENST00000274532.2 - 9 1125 c.1069G>A c.(1069-1071)Gat>Aat p.D357N TIMD4_ENST00000406964.1_Missense_Mutation_p.D59N|TIMD4_ENST00000407087.3_Missense_Mutation_p.D329N NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 357 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTTACTATCTCCAATGTAG 0.428000 9 56 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99266040 99266040 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:99266040G>A ENST00000375241.1 - 14 1943 c.1492C>T c.(1492-1494)Cgt>Tgt p.R498C CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375240.3_Missense_Mutation_p.R459C|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375242.3_Missense_Mutation_p.R461C NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 498 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TTTACTTAACGCAAGACTGTT 0.383000 7 77 0 0 1 0 0 OAZ3 51686 broad.mit.edu 37 1 151740664 151740664 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:151740664T>C ENST00000321531.5 + 4 466 c.299T>C c.(298-300)tTc>tCc p.F100S RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000453029.2_Missense_Mutation_p.F113S|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.F100S Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 97 cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis cytosol|nucleus ornithine decarboxylase inhibitor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(4) 9 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) L-Ornithine(DB00129) CGTCGACTCTTCTTGGATATC 0.557000 4 25 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60663572 60663572 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:60663572A>G ENST00000582809.1 + 17 1701 c.998A>G c.(997-999)aAg>aGg p.K333R TLK2_ENST00000542523.1_Missense_Mutation_p.K450R|TLK2_ENST00000343388.7_Missense_Mutation_p.K450R|TLK2_ENST00000346027.5_Missense_Mutation_p.K482R|TLK2_ENST00000326270.9_Missense_Mutation_p.K504R Q86UE8 TLK2_HUMAN tousled-like kinase 2 504 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GATGAGAAAAAGGAGAATTAC 0.313000 6 44 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579324 7579324 + Silent SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:7579324A>T ENST00000420246.2 - 4 495 c.363T>A c.(361-363)tcT>tcA p.S121S TP53_ENST00000413465.2_Silent_p.S121S|TP53_ENST00000269305.4_Silent_p.S121S|TP53_ENST00000445888.2_Silent_p.S121S|TP53_ENST00000455263.2_Silent_p.S121S|TP53_ENST00000359597.4_Silent_p.S121S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 121 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCAAGTCACAGACTTGGCTG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 35 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34100906 34100906 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:34100906A>G ENST00000538487.2 - 2 811 c.368T>C c.(367-369)gTg>gCg p.V123A GRM4_ENST00000374181.4_Missense_Mutation_p.V123A|GRM4_ENST00000374177.3_Intron NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GAGCGCCTGCACAAAGGTCAG 0.627000 4 21 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17411732 17411732 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:17411732C>G ENST00000247706.3 - 2 933 c.694G>C c.(694-696)Gag>Cag p.E232Q MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 232 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 CGCATGTCCTCAGCCAGCGCA 0.617000 22 98 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42165058 42165058 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:42165058C>T ENST00000444063.1 + 16 1995 c.1863C>T c.(1861-1863)cgC>cgT p.R621R L3MBTL1_ENST00000373134.1_Silent_p.R626R|L3MBTL1_ENST00000418998.1_Silent_p.R689R|L3MBTL1_ENST00000373135.3_Silent_p.R621R|L3MBTL1_ENST00000427442.2_Silent_p.R689R Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 621 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 GAATTGGACGCCCTCCGAAGT 0.562000 14 50 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89522729 89522729 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:89522729C>G ENST00000370473.4 - 7 1182 c.963G>C c.(961-963)caG>caC p.Q321H NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 321 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) AGTTCTCTATCTGGGCCAAGG 0.567000 15 65 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10699863 10699863 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:10699863C>T ENST00000377022.3 - 21 4733 c.4416G>A c.(4414-4416)acG>acA p.T1472T RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1472 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) TGTACATGTGCGTGCGCCCGC 0.602000 4 11 0 0 1 0 0 EBP 10682 broad.mit.edu 37 X 48382311 48382311 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:48382311G>T ENST00000495186.1 + 2 975 c.152G>T c.(151-153)gGt>gTt p.G51V EBP_ENST00000276096.6_3'UTR NM_006579.2 NP_006570.1 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 51 cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1) 11 CTGTTGTCAGGTCGTGCTGCG 0.567000 15 45 0.000308642 0.000327783 1 1 0 MUC1 4582 broad.mit.edu 37 1 155160660 155160660 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:155160660C>T ENST00000368398.3 - 3 211 c.188G>A c.(187-189)tGc>tAc p.C63Y MUC1_ENST00000368395.1_Silent_p.L289L|MUC1_ENST00000457295.2_Silent_p.L78L|MUC1_ENST00000343256.5_Missense_Mutation_p.C63Y|MUC1_ENST00000368390.3_Silent_p.L69L|MUC1_ENST00000368389.2_Silent_p.L87L|MUC1_ENST00000368393.3_Silent_p.L87L|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368392.3_Silent_p.L78L|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368396.4_Silent_p.L78L|MUC1_ENST00000337604.5_Silent_p.L87L|MUC1_ENST00000438413.1_Intron NM_001204292.1|NM_001204294.1 NP_001191221.1|NP_001191223.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 0 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGTCTCTCTGCAGCTCTTGGT 0.483000 T IGH@ B-NHL 20 63 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67790064 67790064 + Splice_Site SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:67790064C>A ENST00000539229.1 + 10 1061 c.945C>A c.(943-945)gcC>gcA p.A315A ALDH3B1_ENST00000007633.8_Splice_Site_p.A315A|ALDH3B1_ENST00000342456.6_Splice_Site_p.A279A|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 317 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) TGCCTGCAGCCCCCACGGTGC 0.667000 8 35 0.0381472 0.0386551 1 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102550783 102550783 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:102550783C>G ENST00000334701.7 - 7 1747 c.1466G>C c.(1465-1467)aGa>aCa p.R489T HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R188T|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.R367T NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 367 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GATGAAAACTCTGCGTACATA 0.363000 6 53 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33589760 33589760 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:33589760G>A ENST00000262873.7 + 42 5904 c.5812G>A c.(5812-5814)Gcc>Acc p.A1938T NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1896 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGAGCAGCAGGCCAACACCAA 0.627000 5 48 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344246 248344246 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:248344246T>C ENST00000359682.2 + 1 959 c.959T>C c.(958-960)gTt>gCt p.V320A NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAACTTTATGTTTTGCTGTTT 0.378000 4 178 0 0 1 0 0 C9orf106 414318 broad.mit.edu 37 9 132084516 132084516 + RNA SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:132084516G>C ENST00000316786.1 + 0 477 Q8NAJ2 CI106_HUMAN chromosome 9 open reading frame 106 large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) CCCAGGCTTGGAGCAAGCAGC 0.617000 4 42 0 0 1 0 0 SPOCK2 9806 broad.mit.edu 37 10 73826744 73826744 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:73826744T>C ENST00000373109.2 - 8 1288 c.844A>G c.(844-846)Atc>Gtc p.I282V SPOCK2_ENST00000536168.1_Missense_Mutation_p.I282V|SPOCK2_ENST00000317376.4_Missense_Mutation_p.I282V|SPOCK2_ENST00000460053.1_5'UTR NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 282 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 AAGGGACGGATGCAGACCTCG 0.587000 4 64 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67696168 67696168 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:67696168T>C ENST00000545606.1 + 8 1503 c.1066T>C c.(1066-1068)Tgc>Cgc p.C356R NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 356 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) AGCTGCGAAGTGCTTGGATGC 0.413000 19 108 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192804 34192804 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:34192804C>T ENST00000297161.2 + 16 2351 c.1977C>T c.(1975-1977)tgC>tgT p.C659C BMPER_ENST00000426693.1_Silent_p.C659C NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 659 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 ACAAGCCGTGCGTTGCTGGGT 0.522000 24 82 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4098278 4098278 + Missense_Mutation SNP G G A rs62064367 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:4098278G>A ENST00000341657.4 - 10 1402 c.1367C>T c.(1366-1368)gCg>gTg p.A456V ANKFY1_ENST00000574367.1_Missense_Mutation_p.A456V|ANKFY1_ENST00000433651.1_Missense_Mutation_p.A456V|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A498V NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 456 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TTTACCTGTCGCCGTGTCAGG 0.557000 4 28 0 0 1 0 0 FAM153A 285596 broad.mit.edu 37 5 177156509 177156509 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:177156509C>T ENST00000440605.3 - 16 962 c.679G>A c.(679-681)Gag>Aag p.E227K FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Missense_Mutation_p.E227K|FAM153A_ENST00000513554.1_Intron NM_173663.3 NP_775934.3 Q9UHL3 F153A_HUMAN family with sequence similarity 153, member A 227 kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 11 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGGCTTCCTCAGAGACTGTC 0.453000 38 174 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162821630 162821630 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:162821630G>C ENST00000375514.5 + 23 3336 c.3049G>C c.(3049-3051)Gat>Cat p.D1017H SLC4A10_ENST00000415876.2_Missense_Mutation_p.D1006H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D1006H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D1036H|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D1036H NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1036 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAGCTGGTTGGATGATTTGAT 0.358000 9 41 0 0 1 0 0 TTC8 123016 broad.mit.edu 37 14 89307233 89307233 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:89307233C>A ENST00000338104.6 + 3 312 c.260C>A c.(259-261)cCt>cAt p.P87H TTC8_ENST00000354441.6_Intron|TTC8_ENST00000346301.4_Missense_Mutation_p.P87H|TTC8_ENST00000345383.5_Missense_Mutation_p.P87H|TTC8_ENST00000536576.1_5'UTR|TTC8_ENST00000380656.2_Missense_Mutation_p.P97H Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 97 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TTGAAACTCCCTGGAACTAAT 0.388000 5 46 0.00198382 0.00206209 1 1 0 TTN 7273 broad.mit.edu 37 2 179403819 179403819 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:179403819T>C ENST00000589042.1 - 353 99067 c.98843A>G c.(98842-98844)aAc>aGc p.N32948S TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N24008S|TTN_ENST00000460472.2_Missense_Mutation_p.N23883S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N24075S|TTN_ENST00000591111.1_Missense_Mutation_p.N31307S|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N30380S|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31307 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) CTGAGTCTTGTTGTGTCTGAC 0.507000 12 68 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38242099 38242099 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:38242099C>G ENST00000302609.7 - 6 539 c.327G>C c.(325-327)caG>caC p.Q109H ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TATGAGTTTTCTGATGTTTTG 0.428000 11 54 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39795196 39795196 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:39795196G>A ENST00000373272.2 + 18 2486 c.2081G>A c.(2080-2082)cGg>cAg p.R694Q PLCG1_ENST00000373271.1_Missense_Mutation_p.R694Q|PLCG1_ENST00000244007.3_Missense_Mutation_p.R694Q NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 694 SH2 2. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TTCCTGGTGCGGAAGCGGAAT 0.607000 8 26 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16338311 16338311 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:16338311C>T ENST00000400202.1 - 3 2915 c.2203G>A c.(2203-2205)Gat>Aat p.D735N NRIP1_ENST00000400199.1_Missense_Mutation_p.D735N|NRIP1_ENST00000318948.4_Missense_Mutation_p.D735N P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 735 Repression domain 3. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GTACTTTCATCTCTTAAGGGA 0.393000 17 69 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165806233 165806233 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:165806233G>A ENST00000366882.1 - 17 1682 c.1528C>T c.(1528-1530)Cgg>Tgg p.R510W PDE10A_ENST00000539869.2_Missense_Mutation_p.R520W|PDE10A_ENST00000354448.4_Missense_Mutation_p.R510W Q9Y233 PDE10_HUMAN phosphodiesterase 10A 510 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGAACCCGCCGATAGTTCTTC 0.418000 12 47 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712275 32712275 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:32712275C>A ENST00000265074.8 + 1 736 c.393C>A c.(391-393)atC>atA p.I131I NPR3_ENST00000415167.2_Silent_p.I131I|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron 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) 131 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) CAGACCTTATCCTGGGGCCAG 0.682000 16 76 6.31663e-08 7.18752e-08 1 1 0 GSPT2 23708 broad.mit.edu 37 X 51486903 51486903 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:51486903C>T ENST00000340438.4 + 1 423 c.181C>T c.(181-183)Cct>Tct p.P61S NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 61 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) GCCCTTCGTGCCTAACGTACA 0.687000 5 12 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234565225 234565225 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:234565225G>A ENST00000040877.1 - 16 2807 c.2808C>T c.(2806-2808)ctC>ctT p.L936L NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 936 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AAAGAACTGTGAGGGCTTCTA 0.423000 16 91 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230630 7230630 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:7230630T>C ENST00000379938.2 + 10 2835 c.2298T>C c.(2296-2298)cgT>cgC p.R766R RREB1_ENST00000349384.6_Silent_p.R766R|RREB1_ENST00000379933.3_Silent_p.R766R|RREB1_ENST00000334984.6_Silent_p.R766R NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 766 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGCACTATCGTGCCCTGCGCA 0.697000 9 13 0 0 1 0 0 CPNE1 8904 broad.mit.edu 37 20 34219208 34219208 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:34219208G>A ENST00000317619.3 - 11 1177 c.783C>T c.(781-783)atC>atT p.I261I CPNE1_ENST00000397446.1_Silent_p.I261I|CPNE1_ENST00000352393.4_Silent_p.I261I|CPNE1_ENST00000317677.5_Silent_p.I266I|CPNE1_ENST00000397443.1_Silent_p.I261I|CPNE1_ENST00000397445.1_Silent_p.I261I|CPNE1_ENST00000397442.1_Silent_p.I261I Q99829 CPNE1_HUMAN copine I 261 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) TCTTGACACGGATAGTTCCAG 0.478000 13 90 0 0 1 0 0 RBP5 83758 broad.mit.edu 37 12 7280888 7280888 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:7280888A>G ENST00000266560.3 - 2 366 c.200T>C c.(199-201)gTg>gCg p.V67A RBP5_ENST00000542370.1_Missense_Mutation_p.V67A NM_031491.2 NP_113679.1 P82980 RET5_HUMAN retinol binding protein 5, cellular 67 cytoplasm retinal binding|retinol binding|transporter activity autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1) 10 Vitamin A(DB00162) CTCCACTCCCACATCAAACTG 0.592000 8 25 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1401600 1401600 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:1401600C>T ENST00000381524.3 + 3 190 c.4C>T c.(4-6)Ctt>Ttt p.L2F CSF2RA_ENST00000432318.2_Missense_Mutation_p.L2F|CSF2RA_ENST00000361536.3_Missense_Mutation_p.L2F|CSF2RA_ENST00000355432.3_Missense_Mutation_p.L2F|CSF2RA_ENST00000381529.3_Missense_Mutation_p.L2F|CSF2RA_ENST00000381500.1_Missense_Mutation_p.L2F|CSF2RA_ENST00000417535.2_Missense_Mutation_p.L2F|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.L2F|CSF2RA_ENST00000355805.2_Missense_Mutation_p.L2F|CSF2RA_ENST00000494969.2_Missense_Mutation_p.L2F P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 2 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CAGCACCATGCTTCTCCTGGT 0.537000 15 179 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38395978 38395978 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:38395978G>A ENST00000377698.3 + 2 386 c.233G>A c.(232-234)cGg>cAg p.R78Q NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 78 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GATGTGGATCGGGCCGTGAAA 0.657000 12 52 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156763401 156763401 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:156763401G>A ENST00000537611.2 - 6 1013 c.967C>T c.(967-969)Cac>Tac p.H323Y NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 323 integral to membrane|plasma membrane TTTTTTATGTGCTGGGCTTTG 0.418000 6 115 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900287 40900287 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:40900287C>T ENST00000324001.7 - 7 4242 c.3972G>A c.(3970-3972)gaG>gaA p.E1324E PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1324 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTTGGCCTTCTCACCCTCCT 0.677000 3 11 0 0 1 0 0 ESRP1 54845 broad.mit.edu 37 8 95683790 95683790 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:95683790G>A ENST00000433389.2 + 11 1533 c.1343G>A c.(1342-1344)cGc>cAc p.R448H ESRP1_ENST00000454170.2_Missense_Mutation_p.R448H|ESRP1_ENST00000358397.5_Missense_Mutation_p.R448H|ESRP1_ENST00000423620.2_Missense_Mutation_p.R448H NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 448 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding p.R448L(2) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 GACTGTATACGCCTTCGAGGT 0.502000 7 57 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 182910829 182910829 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:182910829T>C ENST00000328913.3 - 27 3271 c.2974A>G c.(2974-2976)Act>Gct p.T992A MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.T992A NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 992 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TCCTTGCTAGTGGTAGCTCTT 0.502000 5 109 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20649500 20649500 + RNA SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:20649500G>T ENST00000428453.1 - 0 2698 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTCTGTGTCCGAATCCTCTGC 0.577000 14 122 3.99206e-14 4.69856e-14 1 1 0 FAT4 79633 broad.mit.edu 37 4 126371549 126371549 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:126371549C>A ENST00000394329.3 + 9 9391 c.9378C>A c.(9376-9378)taC>taA p.Y3126* FAT4_ENST00000335110.5_Nonsense_Mutation_p.Y1424* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3126 Cadherin 30. 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 TGATTAAGTACAGCATTTCTT 0.408000 12 58 0.00185496 0.00193107 1 1 0 TEX15 56154 broad.mit.edu 37 8 30702515 30702515 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:30702515G>A ENST00000256246.2 - 1 4093 c.4019C>T c.(4018-4020)gCt>gTt p.A1340V NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1340 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGTCACTGCAGCGGCTGATAA 0.388000 4 110 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049856 90049856 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:90049856C>G ENST00000330947.2 + 5 2007 c.1647C>G c.(1645-1647)ctC>ctG p.L549L RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Silent_p.L549L|LRRC8B_ENST00000358200.4_Silent_p.L549L NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 549 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) AGAGCAGCCTCTCCCGGATCC 0.458000 3 69 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196309547 196309547 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:196309547C>G ENST00000367433.5 - 16 1808 c.1707G>C c.(1705-1707)caG>caC p.Q569H KCNT2_ENST00000451324.2_Missense_Mutation_p.Q180H|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q519H|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q519H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.Q569H NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 569 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.Q569Q(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGCTTTTTCTCTGCTGGTCTT 0.343000 4 83 0 0 1 0 0 SMPD1 6609 broad.mit.edu 37 11 6415175 6415175 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:6415175G>A ENST00000342245.4 + 5 1558 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K SMPD1_ENST00000356761.2_Missense_Mutation_p.E408K|SMPD1_ENST00000527275.1_Missense_Mutation_p.E463K|SMPD1_ENST00000299397.3_Missense_Mutation_p.E420K NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 462 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TCATGTGGATGAATTTGAGGT 0.517000 10 61 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938339 169938339 + Translation_Start_Site SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:169938339A>T ENST00000421653.1 + 0 332 DHRS9_ENST00000412271.1_Missense_Mutation_p.D83V|DHRS9_ENST00000357546.2_Missense_Mutation_p.D83V|DHRS9_ENST00000436483.2_Missense_Mutation_p.D83V|DHRS9_ENST00000327239.4_Missense_Mutation_p.D83V|DHRS9_ENST00000432060.2_Missense_Mutation_p.D143V|DHRS9_ENST00000428522.1_Missense_Mutation_p.D83V|DHRS9_ENST00000602501.1_Missense_Mutation_p.D83V Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GTGCTTCTGGATGTGACCGAC 0.493000 8 37 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48875394 48875394 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:48875394C>A ENST00000262105.2 + 5 781 c.572C>A c.(571-573)cCt>cAt p.P191H MCM4_ENST00000523944.1_Missense_Mutation_p.P191H NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 191 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) ATTACTGAACCTCTATACATG 0.318000 22 111 2.89027e-11 3.35565e-11 1 1 0 EIF3L 51386 broad.mit.edu 37 22 38273924 38273924 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:38273924C>A ENST00000412331.2 + 11 1903 c.1321C>A c.(1321-1323)Ctg>Atg p.L441M EIF3L_ENST00000406934.1_Missense_Mutation_p.L343M|EIF3L_ENST00000381683.6_Missense_Mutation_p.L393M NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 441 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGAGCCCTTCCTGCAGCAGCT 0.512000 3 57 0.004672 0.00482703 1 1 0 MGA 23269 broad.mit.edu 37 15 41988424 41988424 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:41988424G>A ENST00000219905.7 + 3 1397 c.1216G>A c.(1216-1218)Gag>Aag p.E406K MGA_ENST00000570161.1_Missense_Mutation_p.E406K|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.E406K|MGA_ENST00000389936.4_Missense_Mutation_p.E406K|MGA_ENST00000566586.1_Missense_Mutation_p.E406K NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 406 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GAAACAGGAAGAGACAGATGA 0.423000 5 47 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1636047 1636047 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:1636047G>A ENST00000409644.1 + 6 4411 c.4411G>A c.(4411-4413)Gcc>Acc p.A1471T WDR81_ENST00000437219.2_Missense_Mutation_p.A268T|WDR81_ENST00000419248.1_Missense_Mutation_p.A244T|WDR81_ENST00000545662.1_Missense_Mutation_p.A102T|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.A110T|WDR81_ENST00000309182.5_Missense_Mutation_p.A420T NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 244 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGTGGACCCCGCCCTGCTGGA 0.627000 9 25 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25150118 25150118 + Silent SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:25150118G>C ENST00000332271.5 - 8 1256 c.840C>G c.(838-840)ctC>ctG p.L280L PIWIL3_ENST00000533313.1_Silent_p.L171L|PIWIL3_ENST00000527701.1_Silent_p.L171L|PIWIL3_ENST00000532537.2_5'UTR NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 280 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CATCGGCACAGAGGGTAATGC 0.423000 12 51 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10541667 10541667 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:10541667G>A ENST00000583535.1 - 27 3509 c.3422C>T c.(3421-3423)gCc>gTc p.A1141V MYH3_ENST00000226209.7_Missense_Mutation_p.A1141V NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1141 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CAGCTCCCGGGCATAGTCGCT 0.637000 3 40 0 0 1 0 0 LCP2 3937 broad.mit.edu 37 5 169689861 169689861 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:169689861G>C ENST00000046794.5 - 12 1418 c.803C>G c.(802-804)tCg>tGg p.S268W LCP2_ENST00000521416.1_Missense_Mutation_p.S63W NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 268 immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) CGCTGGAATCGAGGGCTGCAA 0.423000 6 47 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172690501 172690501 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:172690501G>A ENST00000422440.2 - 8 854 c.817C>T c.(817-819)Cag>Tag p.Q273* SLC25A12_ENST00000392592.4_Nonsense_Mutation_p.Q166* NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 273 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) TCTGCAAGCTGATATAGAATA 0.333000 20 97 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127670496 127670496 + Silent SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:127670496G>C ENST00000249363.3 - 2 455 c.198C>G c.(196-198)ctC>ctG p.L66L SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 66 LRRNT. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) GGACCTCGGAGAGGCCCCGGC 0.647000 9 57 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181066 19181066 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:19181066C>T ENST00000375371.3 - 3 919 c.898G>A c.(898-900)Gcc>Acc p.A300T RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 300 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GACTCGGAGGCGATCCACACG 0.647000 3 19 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152201851 152201851 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:152201851G>C ENST00000440973.1 + 5 1075 c.705G>C c.(703-705)aaG>aaC p.K235N ESR1_ENST00000443427.1_Missense_Mutation_p.K235N|ESR1_ENST00000338799.5_Missense_Mutation_p.K235N|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.K235N|ESR1_ENST00000427531.2_Missense_Mutation_p.K62N|ESR1_ENST00000206249.3_Missense_Mutation_p.K235N NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 235 Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ACAGGAGGAAGAGCTGCCAGG 0.498000 10 53 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51095136 51095136 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:51095136C>T ENST00000441560.2 + 13 1988 c.1507C>T c.(1507-1509)Ctg>Ttg p.L503L ATL1_ENST00000358385.6_Silent_p.L503L|ATL1_ENST00000354525.4_Silent_p.L503L|ATL1_ENST00000357032.3_Silent_p.L503L NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 503 Sufficient for membrane association. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 ATACCGAGAGCTGGGAGCTGT 0.458000 13 48 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152420152 152420152 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:152420152G>A ENST00000397345.3 - 119 18863 c.18661C>T c.(18661-18663)Cac>Tac p.H6221Y NEB_ENST00000604864.1_Missense_Mutation_p.H6221Y|NEB_ENST00000172853.10_Missense_Mutation_p.H4520Y|NEB_ENST00000427231.2_Missense_Mutation_p.H6221Y|NEB_ENST00000603639.1_Missense_Mutation_p.H6221Y|NEB_ENST00000409198.1_Missense_Mutation_p.H4520Y NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 6203 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) TCCAGACAGTGAACCACACCA 0.443000 33 172 0 0 1 0 0 NR4A1 3164 broad.mit.edu 37 12 52450304 52450304 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:52450304C>T ENST00000545748.1 + 5 2190 c.1195C>T c.(1195-1197)Cgg>Tgg p.R399W NR4A1_ENST00000243050.1_Missense_Mutation_p.R345W|NR4A1_ENST00000394825.1_Missense_Mutation_p.R345W|NR4A1_ENST00000360284.3_Missense_Mutation_p.R358W|NR4A1_ENST00000394824.2_Missense_Mutation_p.R345W|NR4A1_ENST00000550082.1_Missense_Mutation_p.R358W P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 345 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCTGAAGGGGCGGCGGGGCCG 0.627000 14 92 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56443414 56443414 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:56443414C>T ENST00000290649.5 - 3 645 c.435G>A c.(433-435)gtG>gtA p.V145V RP11-413H22.2_ENST00000563090.1_RNA NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 145 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 ACCACATGACCACCTCTTCCA 0.393000 13 71 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457563 124457563 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:124457563C>G ENST00000329446.4 - 3 725 c.694G>C c.(694-696)Gag>Cag p.E232Q NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 232 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TTTTTTCCCTCTGCCTCCTCT 0.378000 16 29 0 0 1 0 0 RS1 6247 broad.mit.edu 37 X 18675762 18675762 + Missense_Mutation SNP C C T rs62645883 byFrequency TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:18675762C>T ENST00000379984.3 - 2 116 c.76G>A c.(76-78)Gag>Aag p.E26K NM_000330.3 NP_000321.1 O15537 XLRS1_HUMAN retinoschisin 1 26 cell adhesion|multicellular organismal development|response to stimulus|visual perception extracellular space cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1) 15 Hepatocellular(33;0.183) TTACATACCTCGGTAGACGAT 0.333000 12 39 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71886083 71886083 + Missense_Mutation SNP G G A rs143163327 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:71886083G>A ENST00000258104.3 + 43 4991 c.4714G>A c.(4714-4716)Gcc>Acc p.A1572T DYSF_ENST00000409366.1_Missense_Mutation_p.A1594T|DYSF_ENST00000409744.1_Missense_Mutation_p.A1580T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.A1593T|DYSF_ENST00000394120.2_Missense_Mutation_p.A1573T|DYSF_ENST00000410020.3_Missense_Mutation_p.A1611T|DYSF_ENST00000413539.2_Missense_Mutation_p.A1603T|DYSF_ENST00000409651.1_Missense_Mutation_p.A1604T|DYSF_ENST00000410041.1_Missense_Mutation_p.A1590T|DYSF_ENST00000409582.3_Missense_Mutation_p.A1610T|DYSF_ENST00000409762.1_Missense_Mutation_p.A1589T NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1572 C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.A1572T(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CCAGCTGGCCGCCCAGGGACC 0.547000 15 70 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33694614 33694614 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:33694614G>T ENST00000451316.1 - 5 1018 c.483C>A c.(481-483)acC>acA p.T161T IP6K3_ENST00000293756.4_Silent_p.T161T NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 161 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GGTTTCCGTTGGTGTCTTCCA 0.632000 11 88 0.0135373 0.0139026 1 1 0 ACAD8 27034 broad.mit.edu 37 11 134131681 134131681 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:134131681G>A ENST00000281182.4 + 9 1095 c.989G>A c.(988-990)cGg>cAg p.R330Q ACAD8_ENST00000537423.1_Missense_Mutation_p.R253Q|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.R203Q|ACAD8_ENST00000543332.1_3'UTR NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 330 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) GTGGCCGCGCGGCTGATGGTC 0.562000 4 32 0 0 1 0 0 TTLL11 158135 broad.mit.edu 37 9 124751555 124751555 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:124751555C>T ENST00000321582.5 - 4 1645 c.1458G>A c.(1456-1458)acG>acA p.T486T TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Silent_p.T486T NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 486 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 GCGCGATGACCGTCTTAATCA 0.537000 13 59 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43139973 43139973 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:43139973G>A ENST00000342374.4 - 4 589 c.432C>T c.(430-432)atC>atT p.I144I SERINC3_ENST00000255175.1_Silent_p.I144I|SERINC3_ENST00000541235.1_Silent_p.I89I NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 144 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) AGCCAACCATGATTCCAATAA 0.348000 8 42 0 0 1 0 0 HSD11B1L 374875 broad.mit.edu 37 19 5687833 5687833 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:5687833G>A ENST00000581521.1 + 10 1213 c.738G>A c.(736-738)acG>acA p.T246T RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000581773.1_Silent_p.T246T|HSD11B1L_ENST00000339423.2_Silent_p.T246T|HSD11B1L_ENST00000577917.1_Intron|HSD11B1L_ENST00000583928.1_Silent_p.T112T|HSD11B1L_ENST00000423665.2_Intron|HSD11B1L_ENST00000301382.4_Silent_p.T165T|HSD11B1L_ENST00000581893.1_Silent_p.T112T|RPL36_ENST00000579649.1_Intron|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000411793.2_Intron|HSD11B1L_ENST00000342970.2_Silent_p.T159T Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 0 extracellular region binding|oxidoreductase activity gcggcgccacgcgcgcggccg 0.746000 3 8 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111697648 111697648 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:111697648G>C ENST00000435970.1 - 15 2492 c.1676C>G c.(1675-1677)tCa>tGa p.S559* REV3L_ENST00000368802.3_Nonsense_Mutation_p.S637*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.S637*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.S637* O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 637 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) AGAATTTTCTGAATGAACAGT 0.318000 DNA polymerases (catalytic subunits) 12 55 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90136680 90136680 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:90136680G>A ENST00000405460.2 + 78 16993 c.16897G>A c.(16897-16899)Gat>Aat p.D5633N GPR98_ENST00000425867.2_Missense_Mutation_p.D1294N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5633 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGGGCTTGCAGATCAGCTACA 0.463000 8 50 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 99045363 99045363 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:99045363T>C ENST00000254898.5 + 17 2906 c.2675T>C c.(2674-2676)tTa>tCa p.L892S MATN2_ENST00000521689.1_Missense_Mutation_p.L873S|MATN2_ENST00000522025.2_Missense_Mutation_p.L608S|MATN2_ENST00000520016.1_Missense_Mutation_p.L892S|MATN2_ENST00000524308.1_Missense_Mutation_p.L851S|RPL30_ENST00000518164.1_Intron NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 892 proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GACAATCTTTTACGGTCTACA 0.363000 6 11 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99490167 99490167 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:99490167A>G ENST00000355947.2 - 7 1251 c.1122T>C c.(1120-1122)gtT>gtC p.V374V TRIM4_ENST00000349062.2_Silent_p.V348V NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 374 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CTGAGGTGAAAACGTTTTTTC 0.458000 24 83 0 0 1 0 0 MARK3 4140 broad.mit.edu 37 14 103931903 103931903 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:103931903C>G ENST00000429436.2 + 8 1060 c.550C>G c.(550-552)Cta>Gta p.L184V MARK3_ENST00000553942.1_Missense_Mutation_p.L184V|MARK3_ENST00000416682.2_Missense_Mutation_p.L207V|MARK3_ENST00000216288.7_Missense_Mutation_p.L184V|MARK3_ENST00000303622.9_Missense_Mutation_p.L184V|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000335102.5_Missense_Mutation_p.L207V|MARK3_ENST00000561071.1_Intron NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 184 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) GGCTGAAAATCTATTGTTAGA 0.348000 11 73 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 712749 712749 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:712749C>T ENST00000382303.1 + 7 2635 c.1983C>T c.(1981-1983)gcC>gcT p.A661A KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.A503A|KANK1_ENST00000382297.2_Silent_p.A661A NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 661 negative regulation of actin filament polymerization cytoplasm p.A503A(1)|p.A661A(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TGGAAGCTGCCGTCATGGCAG 0.577000 3 14 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110922195 110922195 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:110922195C>G ENST00000316534.4 - 8 914 c.841G>C c.(841-843)Gag>Cag p.E281Q NPHP1_ENST00000393272.3_Missense_Mutation_p.E281Q|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000445609.2_Intron O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 281 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TCCACAGTCTCCATCCTATTT 0.458000 48 165 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52198759 52198759 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:52198759C>T ENST00000371471.2 - 2 1032 c.607G>A c.(607-609)Gtc>Atc p.V203I ZNF217_ENST00000302342.3_Missense_Mutation_p.V203I O75362 ZN217_HUMAN zinc finger protein 217 203 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) TGCACCTGGACGACCTCGTTG 0.483000 10 151 0 0 1 0 0 RHBDL3 162494 broad.mit.edu 37 17 30648058 30648058 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:30648058C>T ENST00000269051.4 + 9 1039 c.1025C>T c.(1024-1026)gCg>gTg p.A342V RHBDL3_ENST00000538145.1_Missense_Mutation_p.A334V|RHBDL3_ENST00000536287.1_Missense_Mutation_p.A244V NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 342 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) AGCTTTGTGGCGCACTTGGGT 0.642000 9 50 0 0 1 0 0 HMMR 3161 broad.mit.edu 37 5 162909657 162909657 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:162909657G>A ENST00000393915.4 + 13 1538 c.1395G>A c.(1393-1395)gcG>gcA p.A465A HMMR_ENST00000432118.2_Silent_p.A378A|HMMR_ENST00000358715.3_Silent_p.A464A|HMMR_ENST00000353866.3_Silent_p.A449A NM_001142556.1|NM_012484.2 NP_001136028.1|NP_036616.2 O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 464 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GCTATAAAGCGTTAACAGCCA 0.348000 7 59 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79971671 79971671 + Silent SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:79971671A>C ENST00000373275.4 - 20 2526 c.2310T>G c.(2308-2310)tcT>tcG p.S770S BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 770 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GAGTAGTGTAAGATGGCTTTT 0.353000 23 35 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167820 161167820 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:161167820G>A ENST00000367996.5 - 1 1026 c.598C>T c.(598-600)Ctt>Ttt p.L200F ADAMTS4_ENST00000367995.3_Missense_Mutation_p.L200F NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGGCTTCCAAGAGGAGCCTTG 0.627000 3 46 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209783233 209783233 + Silent SNP G G C rs56379151 byFrequency TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:209783233G>C ENST00000009105.1 + 9 1031 c.786G>C c.(784-786)ccG>ccC p.P262P CAMK1G_ENST00000361322.2_Silent_p.P262P|CAMK1G_ENST00000494990.1_3'UTR Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 262 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) AGAAGGATCCGAACGAGCGGT 0.498000 9 53 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552932 140552932 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:140552932C>T ENST00000231137.3 + 1 690 c.516C>T c.(514-516)atC>atT p.I172I NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 172 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTACACCATCAGCCCCAATG 0.468000 3 41 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45817735 45817735 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:45817735G>C ENST00000397928.1 + 13 2483 c.2038G>C c.(2038-2040)Gag>Cag p.E680Q TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.E680Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.E680Q|TRPM2_ENST00000300481.9_Missense_Mutation_p.E660Q NM_003307.3 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 680 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGCGCTGGCGGAGGAGTATGA 0.647000 7 15 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127703061 127703061 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:127703061G>A ENST00000405109.1 + 6 2279 c.1812G>A c.(1810-1812)atG>atA p.M604I KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.M179I|KBTBD12_ENST00000405256.1_Missense_Mutation_p.M604I|KBTBD12_ENST00000407609.3_Missense_Mutation_p.M211I Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 604 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 TAGCCAGGATGAATCCCCGAG 0.502000 37 76 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838630 83838630 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:83838630C>A ENST00000349129.2 + 16 2004 c.1744C>A c.(1744-1746)Cct>Act p.P582T DOPEY1_ENST00000237163.5_Missense_Mutation_p.P563T|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P573T NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 582 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCATGAAAATCCTACTGAAGT 0.358000 7 55 0.000157383 0.000167925 1 1 0 PTPRN2 5799 broad.mit.edu 37 7 157370773 157370773 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:157370773G>A ENST00000389413.3 - 17 2572 c.2469C>T c.(2467-2469)ggC>ggT p.G823G PTPRN2_ENST00000404321.2_Silent_p.G875G|PTPRN2_ENST00000389418.4_Silent_p.G852G|PTPRN2_ENST00000409483.1_Silent_p.G814G|PTPRN2_ENST00000389416.4_Silent_p.G835G NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 852 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACTGCCGGACGCCGTTCTCCG 0.632000 12 27 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30361941 30361941 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:30361941C>T ENST00000327564.7 + 6 2131 c.2070C>T c.(2068-2070)cgC>cgT p.R690R LRRC37B_ENST00000584368.1_Silent_p.R624R|LRRC37B_ENST00000394713.3_Silent_p.R612R|LRRC37B_ENST00000341671.7_Silent_p.R663R|LRRC37B_ENST00000543378.2_Silent_p.R581R Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 663 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TTCTCAATCGCAATCCTCTGA 0.323000 5 67 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74639139 74639139 + Splice_Site SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:74639139G>A ENST00000253159.8 + 23 4365 c.e23+1 ZNF236_ENST00000320610.9_Splice_Site NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TACGTTGCAGGTATGACACCT 0.433000 14 77 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40843425 40843425 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:40843425C>T ENST00000264638.4 + 15 2457 c.2240C>T c.(2239-2241)aCc>aTc p.T747I CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 747 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GGACTGCTGACCTTTGTGGAC 0.592000 9 43 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.470A>G c.(469-471)cAt>cGt p.H157R AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132R ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 60 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56924104 56924104 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:56924104G>A ENST00000559237.1 - 21 3176 c.2493C>T c.(2491-2493)caC>caT p.H831H ZNF280D_ENST00000267807.7_Silent_p.H844H NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 844 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CCTGACAAACGTGTTGTATTT 0.363000 23 103 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52889675 52889675 + Splice_Site SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:52889675C>T ENST00000371544.3 - 30 5130 c.e30-1 ZCCHC11_ENST00000257177.4_Splice_Site NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GCACATCTGTCTGTTGGATAC 0.448000 4 16 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764842 138764842 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:138764842C>A ENST00000242351.5 - 4 1161 c.845G>T c.(844-846)aGg>aTg p.R282M ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.R282M|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.R282M NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 282 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 CAGGGAAGCCCTGTGGCTGAT 0.587000 28 94 9.39395e-14 1.10375e-13 1 1 0 TAAR9 134860 broad.mit.edu 37 6 132859631 132859631 + RNA SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:132859631A>G ENST00000434551.1 + 0 203 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) ACACCTACAAACTTTCTGATT 0.517000 10 69 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187626804 187626804 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:187626804C>A ENST00000304698.5 + 8 1938 c.1735C>A c.(1735-1737)Cga>Aga p.R579R NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 579 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ACCAGTAAATCGAGAGAACTT 0.453000 6 29 0.0293803 0.0298156 1 1 0 DOCK1 1793 broad.mit.edu 37 10 128817063 128817063 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:128817063G>A ENST00000280333.6 + 13 1337 c.1228G>A c.(1228-1230)Gct>Act p.A410T RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 410 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CACAGCTGTGGCTCGAAAAAC 0.493000 5 19 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026205 176026205 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:176026205G>C ENST00000303991.4 - 2 808 c.631C>G c.(631-633)Ctt>Gtt p.L211V NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 211 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGGATCCAAGATCTTCCTTT 0.498000 17 74 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40460320 40460320 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:40460320G>A ENST00000345506.4 + 17 2673 c.2031G>A c.(2029-2031)gaG>gaA p.E677E STAT5A_ENST00000587646.1_Silent_p.E165E|STAT5A_ENST00000452307.2_Silent_p.E674E|STAT5A_ENST00000588868.1_Silent_p.E646E|STAT5A_ENST00000546010.2_Silent_p.E647E|STAT5A_ENST00000590949.1_Silent_p.E677E NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 677 SH2. 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CCAAGGATGAGGTCTTCTCCA 0.597000 6 57 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12946095 12946095 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:12946095T>C ENST00000276297.4 - 16 4602 c.4193A>G c.(4192-4194)gAt>gGt p.D1398G DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.D961G|DLC1_ENST00000512044.2_Missense_Mutation_p.D995G|DLC1_ENST00000520226.1_Missense_Mutation_p.D887G NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1398 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CACTTTTGAATCCAACAGGTC 0.453000 25 74 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8115837 8115837 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:8115837G>A ENST00000379328.3 + 6 1754 c.1186G>A c.(1186-1188)Gcc>Acc p.A396T GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.A395T NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 395 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 TAACCCGGCCGCCCTCTCCAG 0.562000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 18 46 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181721334 181721334 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:181721334C>G ENST00000526775.1 + 26 3895 c.3730C>G c.(3730-3732)Cta>Gta p.L1244V CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1214V|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1195V|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L870V|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1244V|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1263V|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1263V NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1263 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTCCGAGTTCTAAGGCCACT 0.517000 19 37 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152553691 152553691 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:152553691C>T ENST00000397345.3 - 16 1643 c.1441G>A c.(1441-1443)Gca>Aca p.A481T NEB_ENST00000604864.1_Missense_Mutation_p.A481T|NEB_ENST00000172853.10_Missense_Mutation_p.A481T|NEB_ENST00000427231.2_Missense_Mutation_p.A481T|NEB_ENST00000603639.1_Missense_Mutation_p.A481T|NEB_ENST00000409198.1_Missense_Mutation_p.A481T NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 481 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) TTCTTAATTGCTTCATATTCT 0.373000 5 35 0 0 1 0 0 DNM1 1759 broad.mit.edu 37 9 131010949 131010949 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:131010949C>G ENST00000341179.7 + 19 2085 c.1993C>G c.(1993-1995)Ctt>Gtt p.L665V DNM1_ENST00000475805.1_Missense_Mutation_p.L665V|DNM1_ENST00000486160.1_Missense_Mutation_p.L665V|DNM1_ENST00000393594.3_Missense_Mutation_p.L665V|DNM1_ENST00000372923.3_Missense_Mutation_p.L665V NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 665 GED. receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CATCCGGAATCTTGTGGACTC 0.542000 7 157 0 0 1 0 0 C2orf43 60526 broad.mit.edu 37 2 20939904 20939904 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:20939904C>T ENST00000237822.3 - 5 609 c.530G>A c.(529-531)aGa>aAa p.R177K C2orf43_ENST00000381090.3_Missense_Mutation_p.R177K|C2orf43_ENST00000403006.2_Missense_Mutation_p.R47K|C2orf43_ENST00000435420.2_Missense_Mutation_p.R129K|C2orf43_ENST00000440866.2_Intron|C2orf43_ENST00000541941.1_Missense_Mutation_p.R47K NM_001282721.1|NM_021925.2 NP_001269650.1|NP_068744.1 Q9H6V9 CB043_HUMAN chromosome 2 open reading frame 43 177 endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGGCAATTCTGCCATTGGG 0.403000 16 60 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408207 47408207 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:47408207C>T ENST00000398879.1 - 17 2402 c.2036G>A c.(2035-2037)gGc>gAc p.G679D TNS3_ENST00000311160.9_Missense_Mutation_p.G679D|TNS3_ENST00000355730.3_Missense_Mutation_p.G439D Q68CZ2 TENS3_HUMAN tensin 3 679 G -> S (in dbSNP:rs7808646). focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CAGCTCTGGGCCGGCTCCATT 0.632000 26 183 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107718944 107718944 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:107718944G>C ENST00000445937.1 + 9 1456 c.1195G>C c.(1195-1197)Gaa>Caa p.E399Q OXR1_ENST00000517566.2_Missense_Mutation_p.E399Q|OXR1_ENST00000442977.2_Missense_Mutation_p.E400Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.E399Q|OXR1_ENST00000497705.1_Missense_Mutation_p.E332Q|OXR1_ENST00000312046.6_Missense_Mutation_p.E392Q NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 400 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ATCTGATACTGAACATTCTAC 0.363000 8 63 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277373 152277373 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:152277373C>G ENST00000368799.1 - 3 10024 c.9989G>C c.(9988-9990)aGt>aCt p.S3330T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3330 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) CCAGTGTCTACTGTCTCTGAC 0.577000 Ichthyosis 90 441 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270675 53270675 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:53270675C>G ENST00000338230.3 - 3 601 c.334G>C c.(334-336)Gag>Cag p.E112Q NM_198457.2 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) GTAGACTTCTCAAATTGATTA 0.383000 8 193 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152467029 152467029 + Splice_Site SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:152467029C>T ENST00000397345.3 - 80 12221 c.e80+1 NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 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) AAGGTACTCACGTCACTGGCG 0.493000 9 55 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120966937 120966937 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:120966937G>A ENST00000288532.6 - 1 48 c.8C>T c.(7-9)gCc>gTc p.A3V COQ5_ENST00000445328.2_Missense_Mutation_p.A3V NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 3 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCTCCCGGGGGCCGCCATCTT 0.657000 7 18 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092503 30092503 + RNA SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:30092503G>T ENST00000567636.1 + 0 878 NR_003558.1 TAGGTGAGATGAAGGCATGGT 0.527000 4 81 0.150653 0.151538 1 1 0 SMCHD1 23347 broad.mit.edu 37 18 2762210 2762210 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:2762210C>A ENST00000320876.6 + 36 4880 c.4542C>A c.(4540-4542)gtC>gtA p.V1514V SMCHD1_ENST00000261598.8_Silent_p.V1514V|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1514 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GGACCTTGGTCAGAGATCTAC 0.363000 11 49 5.16669e-11 5.98846e-11 1 1 0 UBR4 23352 broad.mit.edu 37 1 19439088 19439088 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:19439088C>G ENST00000375267.2 - 78 11734 c.11731G>C c.(11731-11733)Gat>Cat p.D3911H UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.D3887H|UBR4_ENST00000375254.3_Missense_Mutation_p.D3911H|UBR4_ENST00000375217.2_Missense_Mutation_p.D3904H Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3911 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGATTATAATCAAAGAGCTCC 0.577000 10 46 0 0 1 0 0 DNAJC28 54943 broad.mit.edu 37 21 34860871 34860871 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:34860871G>C ENST00000314399.3 - 2 1268 c.830C>G c.(829-831)tCt>tGt p.S277C DNAJC28_ENST00000381947.3_Missense_Mutation_p.S277C|DNAJC28_ENST00000402202.1_Missense_Mutation_p.S277C NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 277 heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 TTTTTTCCTAGACACTAAAAT 0.373000 4 134 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100657184 100657184 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:100657184T>C ENST00000268070.4 - 13 1861 c.1756A>G c.(1756-1758)Agt>Ggt p.S586G NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 586 TSP type-1 1. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGTTCTACACTGGCACCCGGG 0.627000 4 22 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91281501 91281501 + Missense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:91281501A>T ENST00000369329.3 - 2 307 c.146T>A c.(145-147)gTt>gAt p.V49D MAP3K7_ENST00000369332.3_Missense_Mutation_p.V49D|MAP3K7_ENST00000369325.3_Missense_Mutation_p.V49D|MAP3K7_ENST00000369327.3_Missense_Mutation_p.V49D NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 49 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTTGCAAACAACTCCAAAGGC 0.353000 3 50 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68682081 68682081 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:68682081G>T ENST00000509734.1 + 9 1484 c.806G>T c.(805-807)aGg>aTg p.R269M RAD17_ENST00000521422.1_Missense_Mutation_p.R93M|RAD17_ENST00000354868.5_Missense_Mutation_p.R258M|RAD17_ENST00000305138.4_Missense_Mutation_p.R258M|RAD17_ENST00000380774.3_Missense_Mutation_p.R269M|RAD17_ENST00000282891.6_Missense_Mutation_p.R172M|RAD17_ENST00000354312.3_Missense_Mutation_p.R258M|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Missense_Mutation_p.R93M|RAD17_ENST00000345306.6_Missense_Mutation_p.R258M|RAD17_ENST00000361732.2_Missense_Mutation_p.R258M O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 269 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AATAATCAAAGGTTATTGTTT 0.303000 Other conserved DNA damage response genes 12 107 1.08611e-07 1.23176e-07 1 1 0 AP5S1 55317 broad.mit.edu 37 20 3804755 3804755 + Silent SNP G G A rs141669377 byFrequency TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:3804755G>A ENST00000246041.2 + 3 633 c.414G>A c.(412-414)acG>acA p.T138T AP5S1_ENST00000379567.2_Silent_p.T138T|AP5S1_ENST00000379573.2_3'UTR Q9NUS5 CT029_HUMAN adaptor-related protein complex 5, sigma 1 subunit 138 double-strand break repair via homologous recombination protein binding CTGAGGGCACGCTCCGGCTGC 0.662000 8 26 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72274297 72274297 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:72274297C>G ENST00000550746.1 + 4 317 c.253C>G c.(253-255)Cat>Gat p.H85D TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.H85D|TBC1D15_ENST00000319106.8_Missense_Mutation_p.H93D NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 85 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGAAAGAGGTCATCGAGGATC 0.328000 5 16 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19371236 19371236 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:19371236C>T ENST00000379806.5 + 6 714 c.569C>T c.(568-570)tCg>tTg p.S190L PDHA1_ENST00000422285.2_Missense_Mutation_p.S152L|PDHA1_ENST00000540249.1_Missense_Mutation_p.S152L|PDHA1_ENST00000379805.3_Missense_Mutation_p.S152L|PDHA1_ENST00000545074.1_Missense_Mutation_p.S159L NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 152 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) AAAGGAGGATCGATGCACATG 0.498000 13 53 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82439285 82439285 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:82439285C>T ENST00000360464.4 - 3 380 c.318G>A c.(316-318)acG>acA p.T106T RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 106 lipid binding|transporter activity large_intestine(1)|lung(3) 4 CCAGCTTTCTCGTTATGGTGG 0.413000 5 22 0 0 1 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93390004 93390004 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:93390004C>G ENST00000238994.5 - 2 718 c.634G>C c.(634-636)Gat>Cat p.D212H NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 212 CBM21.|Interaction with EPM2A. protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) GTATCACTATCTGTGCCACCA 0.398000 17 70 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6096551 6096551 + Missense_Mutation SNP G G A rs141690919 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:6096551G>A ENST00000217289.4 - 3 1080 c.292C>T c.(292-294)Cgc>Tgc p.R98C FERMT1_ENST00000536936.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 98 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 AGACGAAGGCGCAGCATTTTA 0.478000 15 81 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37382527 37382527 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:37382527A>G ENST00000520965.1 - 6 1475 c.1409T>C c.(1408-1410)tTt>tCt p.F470S ZNF829_ENST00000391711.3_Missense_Mutation_p.F389S|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCCTTTATTAAAGGCCTTCCC 0.393000 18 72 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41988718 41988718 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:41988718G>A ENST00000219905.7 + 3 1691 c.1510G>A c.(1510-1512)Gaa>Aaa p.E504K MGA_ENST00000570161.1_Missense_Mutation_p.E504K|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.E504K|MGA_ENST00000389936.4_Missense_Mutation_p.E504K|MGA_ENST00000566586.1_Missense_Mutation_p.E504K NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 504 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TATGTTGGCAGAATTGGAATA 0.408000 11 62 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22210508 22210508 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:22210508C>G ENST00000356766.6 + 21 2588 c.2440C>G c.(2440-2442)Cgt>Ggt p.R814G PIWIL2_ENST00000521356.1_Missense_Mutation_p.R814G|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R814G NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 814 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) TGTGGTGTACCGTGATGGAGT 0.478000 8 40 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100773885 100773885 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:100773885T>C ENST00000223095.4 + 3 612 c.455T>C c.(454-456)gTg>gCg p.V152A SERPINE1_ENST00000445463.2_Missense_Mutation_p.V137A NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 152 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TTTTCAGAGGTGGAGAGAGCC 0.542000 15 214 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87498829 87498829 + Missense_Mutation SNP C C T rs78015199 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:87498829C>T ENST00000406452.3 - 4 538 c.379G>A c.(379-381)Gat>Aat p.D127N RMDN1_ENST00000523911.1_Missense_Mutation_p.D83N|RMDN1_ENST00000519966.1_Missense_Mutation_p.D127N|RMDN1_ENST00000430676.2_Missense_Mutation_p.D127N|CPNE3_ENST00000198765.4_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TGAGCTACATCACGTGATGCC 0.368000 15 88 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613641 27613641 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:27613641C>T ENST00000225388.4 - 2 1429 c.1371G>A c.(1369-1371)atG>atA p.M457I NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 457 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) AAGTTAGACTCATGTCCTGGA 0.433000 13 89 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89647108 89647108 + Missense_Mutation SNP C C T rs140477845 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:89647108C>T ENST00000345097.4 - 6 970 c.854G>A c.(853-855)cGa>cAa p.R285Q FOXN3_ENST00000557258.1_Missense_Mutation_p.R263Q|FOXN3_ENST00000261302.5_Missense_Mutation_p.R285Q|FOXN3_ENST00000555353.1_Missense_Mutation_p.R263Q NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 285 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAACAGCCCTCGGCTCAGGAC 0.592000 6 28 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430437 153430437 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:153430437C>T ENST00000368723.3 - 3 261 c.151G>A c.(151-153)Ggc>Agc p.G51S S100A7_ENST00000368722.1_Missense_Mutation_p.G51S NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 51 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TAATTTGTGCCCTTTTTGTCC 0.413000 20 65 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19673943 19673943 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:19673943G>A ENST00000328041.6 + 13 1562 c.1365G>A c.(1363-1365)ccG>ccA p.P455P RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 455 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TCACCTGGCCGCTGAGTTTCG 0.458000 OREG0025804 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 70 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904324 55904324 + Missense_Mutation SNP T T G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:55904324T>G ENST00000301529.1 - 1 870 c.871A>C c.(871-873)Agc>Cgc p.S291R NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTCCTCAGGCTGTAGATCAAG 0.353000 12 62 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070607 114070607 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:114070607T>C ENST00000462705.1 - 11 920 c.99A>G c.(97-99)gtA>gtG p.V33V ZBTB20_ENST00000357258.3_Silent_p.V33V|ZBTB20_ENST00000471418.1_Silent_p.V33V|ZBTB20_ENST00000393785.2_Silent_p.V33V|ZBTB20_ENST00000481632.1_Silent_p.V33V|ZBTB20_ENST00000464560.1_Silent_p.V33V|ZBTB20_ENST00000474710.1_Silent_p.V106V NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGCGCACCGTTACGTCACAGA 0.607000 4 48 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95598836 95598836 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:95598836A>G ENST00000346299.5 - 3 531 c.191T>C c.(190-192)cTg>cCg p.L64P MTMR2_ENST00000409459.1_5'UTR|MTMR2_ENST00000393223.3_5'UTR|MTMR2_ENST00000352297.7_5'UTR|MTMR2_ENST00000484818.1_5'UTR NM_016156.5 NP_057240.3 Q13614 MTMR2_HUMAN myotubularin related protein 2 64 nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AGACTCCCTCAGGACCTGGGG 0.363000 4 74 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21062353 21062353 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:21062353C>T ENST00000255882.6 - 55 6377 c.6291G>A c.(6289-6291)caG>caA p.Q2097Q PI4KA_ENST00000414196.3_Silent_p.Q849Q|PI4KA_ENST00000572273.1_Silent_p.Q2039Q NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 2039 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.Q2039Q(2) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGATGTCATTCTGATAGTACT 0.602000 19 71 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36006473 36006473 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr13:36006473C>T ENST00000540320.1 + 39 6781 c.6247C>T c.(6247-6249)Cgc>Tgc p.R2083C NBEA_ENST00000400445.3_Missense_Mutation_p.R2083C|NBEA_ENST00000310336.4_Missense_Mutation_p.R2083C|NBEA_ENST00000379939.2_Missense_Mutation_p.R2080C Q8NFP9 NBEA_HUMAN neurobeachin 2083 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.R2083C(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACGATTTGTTCGCAATGCATT 0.408000 4 20 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577489 92577489 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:92577489C>A ENST00000298047.6 + 18 10973 c.10956C>A c.(10954-10956)cgC>cgA p.R3652R FAT3_ENST00000409404.2_Silent_p.R3652R|FAT3_ENST00000525166.1_Silent_p.R3502R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3652 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCACCATCCGCTTTGAAAATG 0.567000 TCGA Ovarian(4;0.039) 6 90 0.00116845 0.0012201 1 1 0 SLC52A3 113278 broad.mit.edu 37 20 744203 744203 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:744203C>T ENST00000381944.3 - 3 1253 c.1012G>A c.(1012-1014)Gcc>Acc p.A338T SLC52A3_ENST00000217254.7_Missense_Mutation_p.A338T|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 338 sensory perception of sound integral to plasma membrane riboflavin transporter activity CTGAGGGTGGCAGCCAGGTGG 0.602000 13 51 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142741354 142741354 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:142741354C>A ENST00000473835.2 + 11 958 c.868C>A c.(868-870)Ctg>Atg p.L290M U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.L289M NM_001080415.1 NP_001073884.1 O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 290 RRM. RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TGAAGAAATGCTGTGCCAAGA 0.328000 16 57 2.48551e-13 2.91536e-13 1 1 0 CGN 57530 broad.mit.edu 37 1 151502552 151502552 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:151502552G>A ENST00000271636.7 + 12 2407 c.2274G>A c.(2272-2274)gcG>gcA p.A758A NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 752 Glu-rich. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGGGGAAGCGGTGGAGGCAC 0.602000 11 52 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46617538 46617538 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:46617538T>C ENST00000303383.3 - 12 1849 c.1583A>G c.(1582-1584)aAg>aGg p.K528R NM_024745.4 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 528 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CATGGATATCTTGGGAATGTC 0.328000 53 122 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331490 85331490 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:85331490C>T ENST00000440886.1 - 1 352 c.314G>A c.(313-315)cGt>cAt p.R105H LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 105 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AAGCCCCTGACGGAGAAACCA 0.502000 5 211 0 0 1 0 0 C1orf174 339448 broad.mit.edu 37 1 3807332 3807332 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:3807332G>A ENST00000361605.3 - 3 517 c.419C>T c.(418-420)tCc>tTc p.S140F C1orf174_ENST00000486765.1_5'UTR NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 140 endometrium(1)|large_intestine(5)|lung(4)|prostate(1) 11 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19) TTTTGGCACGGACAGGCCATC 0.572000 9 42 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 118065449 118065449 + Missense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:118065449A>T ENST00000356554.3 + 13 2531 c.1796A>T c.(1795-1797)tAt>tTt p.Y599F NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 599 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) ATTTTCAGATATTTGTATCTG 0.393000 9 106 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114511080 114511080 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:114511080C>A ENST00000369558.1 + 13 2813 c.2581C>A c.(2581-2583)Ctg>Atg p.L861M HIPK1_ENST00000406344.1_Missense_Mutation_p.L467M|HIPK1_ENST00000369561.4_Missense_Mutation_p.L827M|HIPK1_ENST00000426820.2_Missense_Mutation_p.L861M|HIPK1_ENST00000369555.2_Missense_Mutation_p.L816M|HIPK1_ENST00000369559.4_Missense_Mutation_p.L861M|HIPK1_ENST00000369554.2_Missense_Mutation_p.L816M|HIPK1_ENST00000369553.1_Missense_Mutation_p.L467M|HIPK1_ENST00000340480.4_Missense_Mutation_p.L487M Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 861 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTAGATGTTCTGCCTTCCCA 0.463000 14 93 5.01169e-05 5.38934e-05 1 1 0 HIST1H4C 8364 broad.mit.edu 37 6 26104345 26104345 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:26104345G>T ENST00000377803.2 + 1 242 c.170G>T c.(169-171)gGt>gTt p.G57V NM_003542.3 NP_003533.1 P62805 H4_HUMAN histone cluster 1, H4c 57 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 GAGACTCGAGGTGTGCTTAAG 0.522000 13 67 4.3838e-07 4.89072e-07 1 1 0 NHLRC4 283948 broad.mit.edu 37 16 618117 618117 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:618117T>A ENST00000424439.2 + 2 727 c.70T>A c.(70-72)Ttt>Att p.F24I PIGQ_ENST00000409527.2_Intron|NHLRC4_ENST00000540585.1_Missense_Mutation_p.F24I P0CG21 NHLC4_HUMAN NHL repeat containing 4 24 GAGTGAGGAGTTTGGGGATGT 0.692000 5 15 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112177244 112177244 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:112177244G>A ENST00000457016.1 + 16 6333 c.5953G>A c.(5953-5955)Gaa>Aaa p.E1985K APC_ENST00000508376.2_Missense_Mutation_p.E1985K|APC_ENST00000257430.4_Missense_Mutation_p.E1985K|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1985 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TAAAGAAAATGAACCTATCAA 0.398000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 12 44 0 0 1 0 0 NAGK 55577 broad.mit.edu 37 2 71299818 71299818 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:71299818A>G ENST00000418807.3 + 4 414 c.250A>G c.(250-252)Aac>Gac p.N84D NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000443872.2_5'UTR|NAGK_ENST00000443938.2_Missense_Mutation_p.N135D|NAGK_ENST00000455662.2_Missense_Mutation_p.N181D|NAGK_ENST00000244204.6_Missense_Mutation_p.N135D Q9UJ70 NAGK_HUMAN N-acetylglucosamine kinase 135 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1) 18 N-Acetyl-D-glucosamine(DB00141) CAGGCTCATCAACCCTGATGG 0.602000 3 28 0 0 1 0 0 OXNAD1 92106 broad.mit.edu 37 3 16327924 16327924 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:16327924G>A ENST00000285083.5 + 5 724 c.259G>A c.(259-261)Gat>Aat p.D87N OXNAD1_ENST00000435829.2_Missense_Mutation_p.D105N|OXNAD1_ENST00000544043.1_Missense_Mutation_p.D105N|OXNAD1_ENST00000605932.1_Missense_Mutation_p.D87N|OXNAD1_ENST00000606098.1_Missense_Mutation_p.D87N NM_138381.3 NP_612390.1 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 87 FAD-binding FR-type. oxidoreductase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 13 GCTTGTTGCTGATCAAGACTT 0.443000 12 44 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61950662 61950662 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:61950662G>T ENST00000336844.5 - 2 199 c.48C>A c.(46-48)ctC>ctA p.L16L CSH2_ENST00000560142.1_Silent_p.L16L|CSH2_ENST00000392886.2_Silent_p.L16L|CSH2_ENST00000345366.7_Silent_p.L16L NM_022644.3 NP_072170.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 16 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 AGGGCAGGCAGAGCAGGGCAA 0.642000 8 84 5.4927e-09 6.29181e-09 1 1 0 TBC1D10B 26000 broad.mit.edu 37 16 30369984 30369984 + Splice_Site SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:30369984C>G ENST00000409939.3 - 8 1877 c.1797G>C c.(1795-1797)gaG>gaC p.E599D NM_015527.3 NP_056342.3 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 599 cytoplasm Rab GTPase activator activity endometrium(2)|kidney(1)|lung(2)|urinary_tract(1) 6 Colorectal(24;0.193) ACAGGCCTACCTCATGCACCA 0.602000 3 12 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34954775 34954775 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:34954775G>A ENST00000382021.2 + 13 1914 c.1687G>A c.(1687-1689)Gca>Aca p.A563T DNAJC21_ENST00000303525.7_Missense_Mutation_p.A531T|DNAJC21_ENST00000342382.4_Missense_Mutation_p.A518T NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 518 protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTTAAACAGCGCAACAAGTAG 0.388000 14 78 0 0 1 0 0 DPY19L3 147991 broad.mit.edu 37 19 32902171 32902171 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:32902171A>G ENST00000342179.5 + 3 345 c.130A>G c.(130-132)Att>Gtt p.I44V DPY19L3_ENST00000392250.2_Missense_Mutation_p.I44V|DPY19L3_ENST00000586987.1_Missense_Mutation_p.I44V|DPY19L3_ENST00000587077.2_Missense_Mutation_p.I44V NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 44 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) ATTATGGAAGATTTTGTCATT 0.328000 4 62 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35518832 35518832 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:35518832T>C ENST00000353139.5 - 42 5693 c.5212A>G c.(5212-5214)Aga>Gga p.R1738G ACACA_ENST00000394406.2_Missense_Mutation_p.R1701G|ACACA_ENST00000335166.5_Missense_Mutation_p.R1623G|ACACA_ENST00000360679.3_Missense_Mutation_p.R1643G NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1701 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TCGGAAGCTCTGAGAAATAAC 0.448000 11 77 0 0 1 0 0 NRN1L 123904 broad.mit.edu 37 16 67919746 67919746 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:67919746G>A ENST00000339176.3 + 2 300 c.201G>A c.(199-201)gaG>gaA p.E67E NRN1L_ENST00000576147.1_5'UTR|CTC-479C5.10_ENST00000572067.1_lincRNA NM_198443.1 NP_940845.1 Q496H8 NRN1L_HUMAN neuritin 1-like 67 anchored to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) GCGAGCTGGAGACCATCTGCA 0.607000 8 73 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36630325 36630325 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:36630325C>G ENST00000543751.1 + 8 745 c.600C>G c.(598-600)ctC>ctG p.L200L MELK_ENST00000536860.1_Silent_p.L184L|MELK_ENST00000536987.1_Silent_p.L101L|MELK_ENST00000538311.1_Silent_p.L38L|MELK_ENST00000541717.1_Silent_p.L232L|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000298048.2_Silent_p.L232L|MELK_ENST00000536329.1_Silent_p.L161L|MELK_ENST00000545008.1_Silent_p.L161L NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 232 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) CCAAGTGGCTCTCTCCCAGTA 0.333000 6 170 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165578680 165578680 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:165578680G>A ENST00000375458.2 - 6 1122 c.901C>T c.(901-903)Cca>Tca p.P301S COBLL1_ENST00000392717.2_Missense_Mutation_p.P339S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P339S|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.P367S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P301S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 339 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TGAGATGCTGGCATCGGGGGC 0.522000 11 59 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36851383 36851383 + Missense_Mutation SNP C C A rs150854351 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:36851383C>A ENST00000270001.7 - 4 304 c.189G>T c.(187-189)aaG>aaT p.K63N ZFP14_ENST00000589280.1_Missense_Mutation_p.K64N NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 63 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TCCCAGGTTCCTTCCTTTCTT 0.418000 9 47 0.010729 0.0110351 1 1 0 THYN1 29087 broad.mit.edu 37 11 134118854 134118854 + Splice_Site SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:134118854C>T ENST00000341541.3 - 6 942 c.e6-1 THYN1_ENST00000392595.2_Splice_Site|THYN1_ENST00000392594.3_Splice_Site|THYN1_ENST00000352327.5_Intron NM_014174.2 NP_054893.1 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) GTACATCCACCTATGTGACAA 0.463000 19 71 0 0 1 0 0 VPREB3 29802 broad.mit.edu 37 22 24095144 24095144 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:24095144G>T ENST00000248948.3 - 2 395 c.291C>A c.(289-291)gcC>gcA p.A97A VPREB3_ENST00000398465.3_Silent_p.A81A NM_013378.2 NP_037510.1 Q9UKI3 VPRE3_HUMAN pre-B lymphocyte 3 97 Ig-like. endoplasmic reticulum large_intestine(1)|lung(1)|skin(1) 3 Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334) TGAGGACACAGGCATTGTGGG 0.592000 8 34 0.000157383 0.000167925 1 1 0 TMEM106A 113277 broad.mit.edu 37 17 41367889 41367889 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:41367889A>G ENST00000331615.3 + 5 595 c.358A>G c.(358-360)Att>Gtt p.I120V TMEM106A_ENST00000588659.1_Missense_Mutation_p.I120V|TMEM106A_ENST00000536052.1_Missense_Mutation_p.I120V|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.I72V NM_145041.1 NP_659478.1 Q96A25 T106A_HUMAN transmembrane protein 106A 120 integral to membrane NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) CCGGTCCGTCATTGTGCAGCC 0.567000 35 170 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315827 12315827 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:12315827C>A ENST00000256186.2 + 3 1140 c.849C>A c.(847-849)ccC>ccA p.P283P NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 283 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CTCTAGAGCCCCTCCTTTCCA 0.587000 8 25 1.12685e-05 1.23701e-05 1 1 0 GABRB2 2561 broad.mit.edu 37 5 160721218 160721218 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:160721218C>T ENST00000274547.2 - 11 1626 c.1409G>A c.(1408-1410)cGc>cAc p.R470H GABRB2_ENST00000517901.1_Missense_Mutation_p.R369H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R470H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R272H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432H NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 470 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTGGGAGGCGCGTCTCCTCAG 0.507000 8 68 0 0 1 0 0 TES 26136 broad.mit.edu 37 7 115892473 115892473 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:115892473C>T ENST00000358204.4 + 6 1235 c.1020C>T c.(1018-1020)taC>taT p.Y340Y AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Silent_p.Y331Y|TES_ENST00000537767.1_Silent_p.Y98Y NM_015641.3 NP_056456.1 Q9UGI8 TES_HUMAN testis derived transcript (3 LIM domains) 340 LIM zinc-binding 2. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) GGGAGATATACGTGATGGTCA 0.468000 26 92 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169229287 169229287 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:169229287G>C ENST00000393743.3 - 4 425 c.134C>G c.(133-135)tCa>tGa p.S45* NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 45 ATP binding|ATP-dependent helicase activity|RNA binding p.S45L(2) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GATAAGTAATGAATCCCCATC 0.308000 13 61 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31566371 31566371 + Splice_Site SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:31566371T>C ENST00000389082.5 - 13 2944 c.2680A>G c.(2680-2682)Aag>Gag p.K894E DENND5B_ENST00000536562.1_Splice_Site_p.K929E|DENND5B_ENST00000306833.6_Splice_Site_p.K929E NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 894 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GTATCTTACTTGGTGAGTGGT 0.413000 5 46 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004099 187004099 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:187004099C>G ENST00000296795.3 + 4 1363 c.1259C>G c.(1258-1260)tCa>tGa p.S420* TLR3_ENST00000504367.1_Nonsense_Mutation_p.S143* NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) AATAAAATCTCAAAAATAGAG 0.408000 13 63 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50912914 50912914 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:50912914G>T ENST00000440232.2 + 17 2198 c.2145G>T c.(2143-2145)gaG>gaT p.E715D POLD1_ENST00000595904.1_Missense_Mutation_p.E741D|POLD1_ENST00000599857.1_Missense_Mutation_p.E715D NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 715 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGTGCCTGGAGATCTCACAGG 0.667000 DNA polymerases (catalytic subunits) 7 55 3.09899e-07 3.46298e-07 1 1 0 IDE 3416 broad.mit.edu 37 10 94228654 94228654 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:94228654C>G ENST00000265986.6 - 19 2358 c.2302G>C c.(2302-2304)Gaa>Caa p.E768Q IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.E213Q NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 768 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGCTGAACTTCTCTATACCGA 0.433000 6 24 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111367 7111367 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:7111367G>A ENST00000306904.5 + 1 1203 c.1016G>A c.(1015-1017)gGc>gAc p.G339D NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 339 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACTCGAGGGGCCGACACCGG 0.662000 5 20 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551683 102551683 + Missense_Mutation SNP C C G rs140980766 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:102551683C>G ENST00000334701.7 - 5 1262 c.981G>C c.(979-981)gaG>gaC p.E327D HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E26D|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E205D NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 205 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding p.E327D(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCTTCACAATCTCCTTTATTC 0.378000 7 41 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2567049 2567049 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:2567049G>C ENST00000319888.6 - 2 965 c.167C>G c.(166-168)tCt>tGt p.S56C METTL4_ENST00000574538.1_Missense_Mutation_p.S56C Q8N3J2 METL4_HUMAN methyltransferase like 4 56 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 ACAGACTCCAGAGGAGGACAC 0.398000 4 39 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177250038 177250038 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:177250038C>A ENST00000361539.4 + 8 2038 c.1726C>A c.(1726-1728)Ctc>Atc p.L576I BRINP2_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 576 GCAGATCTGTCTCACCAAGAA 0.572000 5 23 0.000602214 0.000633666 1 1 0 IFT122 55764 broad.mit.edu 37 3 129182458 129182458 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:129182458C>T ENST00000296266.3 + 7 750 c.558C>T c.(556-558)atC>atT p.I186I IFT122_ENST00000348417.2_Silent_p.I135I|IFT122_ENST00000504021.1_Silent_p.I88I|IFT122_ENST00000507564.1_Silent_p.I186I|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000349441.2_Silent_p.I83I|IFT122_ENST00000347300.2_Silent_p.I135I NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 135 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GCAGCAAGATCATCTGCTGCA 0.408000 5 61 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96127845 96127845 + Missense_Mutation SNP G G C rs142077174 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:96127845G>C ENST00000453304.1 - 11 2184 c.1836C>G c.(1834-1836)tgC>tgG p.C612W NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 612 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGGGGTCTGCGCAGTGATGCA 0.572000 19 100 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30691947 30691947 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:30691947C>G ENST00000295754.5 + 3 831 c.449C>G c.(448-450)tCa>tGa p.S150* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 150 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 ATCATCTTCTCAGAAGGTGAG 0.433000 10 53 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459835 142459835 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:142459835G>A ENST00000486171.1 + 4 470 c.453G>A c.(451-453)acG>acA p.T151T PRSS1_ENST00000311737.7_Silent_p.T137T P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 137 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.T137T(2) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CCACTGGCACGAAGTGCCTCA 0.552000 18 74 0 0 1 0 0 PPP1R18 170954 broad.mit.edu 37 6 30652939 30652939 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:30652939C>A ENST00000274853.3 - 1 2733 c.857G>T c.(856-858)gGg>gTg p.G286V PPP1R18_ENST00000399199.3_Missense_Mutation_p.G286V|PPP1R18_ENST00000488324.1_Intron NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 286 cytoplasm|cytoskeleton actin binding TGGAGCTACCCCTGGAACTGG 0.557000 19 86 8.34094e-07 9.27523e-07 1 1 0 NTRK2 4915 broad.mit.edu 37 9 87317107 87317107 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:87317107C>A ENST00000304053.6 + 3 729 c.246C>A c.(244-246)atC>atA p.I82I NTRK2_ENST00000395882.1_Silent_p.I82I|NTRK2_ENST00000277120.3_Silent_p.I82I|NTRK2_ENST00000376208.1_Silent_p.I82I|NTRK2_ENST00000376214.1_Silent_p.I82I|NTRK2_ENST00000395866.2_5'UTR|NTRK2_ENST00000323115.4_Silent_p.I82I|NTRK2_ENST00000376213.1_Silent_p.I82I|NTRK2_ENST00000359847.3_Silent_p.I82I NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 82 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TAGAAATCATCAACGAAGATG 0.443000 TSP Lung(25;0.17) 6 54 2.0095e-06 2.22736e-06 1 1 0 CACNA1G 8913 broad.mit.edu 37 17 48683430 48683430 + Missense_Mutation SNP G G T rs34008213 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:48683430G>T ENST00000416767.4 + 23 4496 c.4468G>T c.(4468-4470)Ggg>Tgg p.G1490W CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 979 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGAGGCTGGAGGGGGCACAGG 0.612000 9 37 4.36969e-10 5.03065e-10 1 1 0 CHAF1B 8208 broad.mit.edu 37 21 37785282 37785282 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:37785282C>A ENST00000314103.5 + 12 1313 c.1162C>A c.(1162-1164)Cca>Aca p.P388T NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 GAAAGAGAAGCCAGTTTTGAA 0.493000 6 35 8.12818e-05 8.6997e-05 1 1 0 HPR 3250 broad.mit.edu 37 16 72107850 72107850 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:72107850C>A ENST00000540303.2 + 2 97 c.65C>A c.(64-66)tCa>tAa p.S22* HPR_ENST00000228226.8_Nonsense_Mutation_p.S59*|HPR_ENST00000356967.5_Nonsense_Mutation_p.S22*|HPR_ENST00000561690.1_Nonsense_Mutation_p.S22* NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 22 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GCACTGTACTCAGGCAATGAT 0.537000 4 87 0.184627 0.185168 1 1 0 BTAF1 9044 broad.mit.edu 37 10 93778679 93778679 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:93778679C>G ENST00000265990.6 + 34 5158 c.4850C>G c.(4849-4851)tCa>tGa p.S1617* BTAF1_ENST00000544642.1_Nonsense_Mutation_p.S445* NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1617 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.S1617*(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) CCTAAGCTCTCAGCTTTGAAA 0.353000 14 90 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177911106 177911106 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:177911106C>T ENST00000308284.6 - 16 2040 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K RP4-798P15.3_ENST00000354921.3_RNA NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 651 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CCAATGGCTTCGCAGTAATGC 0.507000 8 54 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65620391 65620391 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:65620391C>T ENST00000308342.6 + 12 1545 c.1120C>T c.(1120-1122)Ctc>Ttc p.L374F NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 374 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) TCGAAAGAATCTCATTGAGCT 0.627000 13 92 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557883 210557883 + Missense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:210557883A>T ENST00000360351.4 + 7 1495 c.989A>T c.(988-990)aAg>aTg p.K330M MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K326M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 330 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GATGTCATGAAGAATGAAATA 0.438000 8 58 0 0 1 0 0 ACAT1 38 broad.mit.edu 37 11 108009625 108009625 + Splice_Site SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:108009625G>A ENST00000265838.4 + 6 527 c.436G>A c.(436-438)Gat>Aat p.D146N NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 146 acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix acetyl-CoA C-acetyltransferase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) TTCTGCGCAGGATGTGATGGT 0.413000 28 104 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78073343 78073343 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:78073343G>T ENST00000397545.4 + 20 3225 c.3198G>T c.(3196-3198)gtG>gtT p.V1066V NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1066 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CAGAGATCGTGGCCCTGCAGA 0.572000 11 72 4.68919e-08 5.34458e-08 1 1 0 SLIT2 9353 broad.mit.edu 37 4 20544219 20544219 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:20544219C>G ENST00000504154.1 + 21 2498 c.2246C>G c.(2245-2247)cCg>cGg p.P749R SLIT2_ENST00000273739.5_Missense_Mutation_p.P753R|SLIT2_ENST00000503837.1_Missense_Mutation_p.P745R|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Missense_Mutation_p.P741R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 749 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.P749>?(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AAGGTCTTGCCGAAAGGTATT 0.408000 31 150 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185691610 185691610 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:185691610T>C ENST00000515030.1 - 11 1261 c.936A>G c.(934-936)ccA>ccG p.P312P ACSL1_ENST00000504342.1_Silent_p.P312P|ACSL1_ENST00000281455.2_Silent_p.P312P|ACSL1_ENST00000504900.1_Silent_p.P312P|ACSL1_ENST00000507295.1_Silent_p.P278P|ACSL1_ENST00000454703.2_Silent_p.P141P|ACSL1_ENST00000513317.1_Intron|ACSL1_ENST00000437665.3_Silent_p.P141P P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 312 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AAGTATCATCTGGGCAAGGAT 0.433000 8 43 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57094906 57094906 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:57094906G>T ENST00000278412.2 - 15 2131 c.1865C>A c.(1864-1866)tCt>tAt p.S622Y RP11-872D17.4_ENST00000534162.1_RNA NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 622 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 TCACCTCTTAGAAGACTCGCC 0.468000 25 129 2.50493e-22 3.00504e-22 1 1 0 ROS1 6098 broad.mit.edu 37 6 117662378 117662378 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:117662378G>A ENST00000368508.3 - 30 5197 c.4999C>T c.(4999-5001)Cca>Tca p.P1667S GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1661S NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1667 Fibronectin type-III 8. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGTTCTCTGGAACCAAGGAA 0.413000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 18 60 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50489836 50489836 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:50489836C>A ENST00000267842.5 + 2 850 c.618C>A c.(616-618)atC>atA p.I206I SLC27A2_ENST00000380902.4_Silent_p.I206I|SLC27A2_ENST00000544960.1_5'UTR NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 206 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTGAACCTATCCCAGAGTCAT 0.398000 15 57 0.000308642 0.000327783 1 1 0 ADGRG1 9289 broad.mit.edu 37 16 57685486 57685486 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:57685486C>G ENST00000562631.1 + 3 971 c.439C>G c.(439-441)Cag>Gag p.Q147E GPR56_ENST00000562558.1_Missense_Mutation_p.Q147E|GPR56_ENST00000379696.3_Missense_Mutation_p.Q147E|GPR56_ENST00000456916.1_Missense_Mutation_p.Q147E|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000567835.1_Missense_Mutation_p.Q147E|GPR56_ENST00000568909.1_Missense_Mutation_p.Q147E|GPR56_ENST00000388813.5_Missense_Mutation_p.Q147E|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000568908.1_Missense_Mutation_p.Q147E|GPR56_ENST00000538815.1_Missense_Mutation_p.Q147E|GPR56_ENST00000540164.2_Missense_Mutation_p.Q147E|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000388812.4_Missense_Mutation_p.Q147E Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 147 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 GTGGAGCCCTCAGAACATCAG 0.612000 8 32 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21798100 21798100 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:21798100T>C ENST00000318220.6 + 8 1365 c.317T>C c.(316-318)cTg>cCg p.L106P NBPF3_ENST00000454000.2_Missense_Mutation_p.L92P|NBPF3_ENST00000318249.5_Missense_Mutation_p.L162P|NBPF3_ENST00000342104.5_Missense_Mutation_p.L162P Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 162 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAACGAGAGCTGACCCAGTTA 0.478000 16 213 0 0 1 0 0 RABEP2 79874 broad.mit.edu 37 16 28926079 28926079 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:28926079G>A ENST00000358201.4 - 4 1045 c.457C>T c.(457-459)Cgg>Tgg p.R153W RABEP2_ENST00000357573.6_Missense_Mutation_p.R153W|RABEP2_ENST00000544477.1_Missense_Mutation_p.R82W NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 153 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 ACGATCTCCCGCAGCTTCTCC 0.622000 11 69 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53573345 53573345 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:53573345C>T ENST00000601421.1 - 3 1210 c.334G>A c.(334-336)Gac>Aac p.D112N ZNF160_ENST00000418871.1_Missense_Mutation_p.D148N|ZNF160_ENST00000599056.1_Missense_Mutation_p.D148N|ZNF160_ENST00000429604.1_Missense_Mutation_p.D148N Q9HCG1 ZN160_HUMAN zinc finger protein 160 148 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTTCCTGTGTCATCTCTCCAT 0.423000 21 136 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31929329 31929329 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:31929329G>A ENST00000375394.2 + 9 908 c.795G>A c.(793-795)gcG>gcA p.A265A SKIV2L_ENST00000544581.1_Silent_p.A72A NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 265 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TCCAGGAAGCGTCCACAGCTG 0.567000 17 83 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15295171 15295171 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:15295171C>T ENST00000263388.2 - 16 2576 c.2501G>A c.(2500-2502)aGc>aAc p.S834N NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 834 EGF-like 21; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCAGGTGCAGCTGAAACTCCC 0.627000 5 28 0 0 1 0 0 ASAH2 56624 broad.mit.edu 37 10 52003077 52003077 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:52003077C>T ENST00000395526.4 - 3 394 c.395G>A c.(394-396)gGc>gAc p.G132D ASAH2_ENST00000447815.1_Missense_Mutation_p.G132D|ASAH2_ENST00000329428.6_Missense_Mutation_p.G113D NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 GGTGAGGATGCCCTGTGCATT 0.498000 7 63 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97626452 97626452 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:97626452T>C ENST00000275053.4 - 18 2811 c.2546A>G c.(2545-2547)tAc>tGc p.Y849C MMS22L_ENST00000369251.2_Missense_Mutation_p.Y809C NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 849 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CTGTTTCATGTACTCTTTTTC 0.254000 13 43 0 0 1 0 0 CLEC4E 26253 broad.mit.edu 37 12 8689799 8689799 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:8689799G>C ENST00000299663.3 - 4 449 c.284C>G c.(283-285)tCt>tGt p.S95C CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron NM_014358.2 NP_055173.1 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 95 C-type lectin. integral to membrane sugar binding p.S95Y(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Lung SC(5;0.184) GGTGTCAGTAGAAAAGAAGTA 0.468000 14 37 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274592 29274592 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:29274592C>G ENST00000377160.2 + 1 190 c.126C>G c.(124-126)ctC>ctG p.L42L NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L42L(1) endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 GCAACCTCCTCATTATCACCA 0.458000 21 66 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57072403 57072403 + Splice_Site SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:57072403T>C ENST00000261556.6 + 5 758 c.e5+2 TMEM260_ENST00000536419.1_Splice_Site|TMEM260_ENST00000538838.1_Splice_Site NM_017799.3 NP_060269.3 transmembrane protein 260 AAAAAGAAGGTACGTTTTTGA 0.289000 15 54 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5968294 5968294 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:5968294C>A ENST00000399933.3 - 3 1936 c.1937G>T c.(1936-1938)gGa>gTa p.G646V KIAA2026_ENST00000381461.2_Missense_Mutation_p.G646V NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 646 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ACTGTGACTTCCATTTACATG 0.343000 12 37 3.07112e-06 3.39309e-06 1 1 0 AP5Z1 9907 broad.mit.edu 37 7 4825973 4825973 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:4825973G>A ENST00000348624.4 + 10 1319 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K AP5Z1_ENST00000401897.1_Missense_Mutation_p.E409K NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 409 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GCTGGCCTTTGAATTCATCCA 0.567000 30 103 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110301379 110301379 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:110301379G>A ENST00000414000.2 + 3 1348 c.1109G>A c.(1108-1110)cGt>cAt p.R370H GPR6_ENST00000275169.3_Missense_Mutation_p.R355H P46095 GPR6_HUMAN G protein-coupled receptor 6 355 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) GTGCCCTTTCGTTCCAGGTCT 0.592000 10 78 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117099573 117099573 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:117099573C>T ENST00000307564.4 - 22 4242 c.4081G>A c.(4081-4083)Gca>Aca p.A1361T AKNA_ENST00000223791.3_Missense_Mutation_p.A821T|AKNA_ENST00000374079.4_Missense_Mutation_p.A306T|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.A1280T|AKNA_ENST00000374088.3_Missense_Mutation_p.A1361T NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GTAGGTCCTGCAGGCGCATAG 0.652000 18 37 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058407 53058407 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:53058407G>C ENST00000359798.4 + 5 2418 c.2238G>C c.(2236-2238)caG>caC p.Q746H NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 746 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CGTTCAGTCAGAAGGCAACCC 0.458000 28 141 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58982420 58982420 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:58982420G>A ENST00000536459.2 + 4 1270 c.561G>A c.(559-561)agG>agA p.R187R ZNF324_ENST00000535298.1_5'UTR|ZNF324_ENST00000196482.3_Silent_p.R187R O75467 Z324A_HUMAN zinc finger protein 324 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TGCTGGGGAGGCAGCCCAGGA 0.667000 3 17 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038546 131038546 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:131038546C>T ENST00000320188.5 + 1 122 c.122C>T c.(121-123)tCt>tTt p.S41F SWI5_ENST00000418976.1_5'UTR|SWI5_ENST00000495313.1_Intron|SWI5_ENST00000608796.1_5'UTR|SWI5_ENST00000419867.2_5'UTR NM_001040011.1 NP_001035100.1 Q1ZZU3 SWI5_HUMAN SWI5 recombination repair homolog (yeast) double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding GCGCAGCTTTCTGTGCGCCAG 0.677000 11 16 0 0 1 0 0 GALNT9 50614 broad.mit.edu 37 12 132688236 132688236 + Splice_Site SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:132688236C>A ENST00000328957.8 - 7 1077 c.e7-1 GALNT9_ENST00000535228.1_Splice_Site|GALNT9_ENST00000397325.2_Splice_Site|GALNT9_ENST00000541995.1_Splice_Site NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) ACTGCCACACCTGCGGGGAGA 0.687000 4 36 0.000602214 0.000633666 1 1 0 BRCA1 672 broad.mit.edu 37 17 41245549 41245549 + Nonsense_Mutation SNP G G A rs80356889 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:41245549G>A ENST00000309486.4 - 9 2138 c.1111C>T c.(1111-1113)Caa>Taa p.Q371* BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.Q620*|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.Q667*|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.Q667*|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.Q667*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.Q667* NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 667 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCCATGAGTTGTAGGTTTCTG 0.398000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 17 64 0 0 1 0 0 SDHB 6390 broad.mit.edu 37 1 17349116 17349116 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:17349116C>A ENST00000375499.3 - 7 902 c.752G>T c.(751-753)aGg>aTg p.R251M NM_003000.2 NP_002991.2 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 251 respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 10 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) AGGACAGGTCCTTGTGCAGTT 0.552000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 25 78 3.65163e-15 4.32015e-15 1 1 0 LRMP 4033 broad.mit.edu 37 12 25249925 25249925 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:25249925C>T ENST00000354454.3 + 14 1517 c.688C>T c.(688-690)Cag>Tag p.Q230* LRMP_ENST00000548766.1_Nonsense_Mutation_p.Q230*|RP11-713N11.4_ENST00000555862.1_RNA|LRMP_ENST00000547044.1_Nonsense_Mutation_p.Q230* NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 286 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) GTTTCTTAGCCAGTGTGCAGC 0.408000 5 115 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88967719 88967719 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:88967719G>T ENST00000375961.2 - 2 610 c.396C>A c.(394-396)tcC>tcA p.S132S ZCCHC6_ENST00000375963.3_Silent_p.S132S|ZCCHC6_ENST00000375960.2_Silent_p.S132S|ZCCHC6_ENST00000277141.6_5'UTR Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 132 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TTTCTTGAAAGGAGTCTTTTC 0.408000 4 174 0.014758 0.0150884 1 1 0 MUC4 4585 broad.mit.edu 37 3 195516804 195516804 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:195516804G>T ENST00000463781.3 - 2 2106 c.1647C>A c.(1645-1647)tcC>tcA p.S549S MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S549S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 554 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 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) TGCTGTGGGAGGAGTATGTGG 0.552000 25 203 2.90539e-05 3.15904e-05 1 1 0 AHCYL2 23382 broad.mit.edu 37 7 129028913 129028913 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:129028913T>C ENST00000325006.3 + 3 546 c.492T>C c.(490-492)gaT>gaC p.D164D AHCYL2_ENST00000490911.1_Silent_p.D61D|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000446212.1_Silent_p.D62D|AHCYL2_ENST00000446544.2_Silent_p.D163D|AHCYL2_ENST00000474594.1_Silent_p.D61D|AHCYL2_ENST00000531335.2_Silent_p.D83D NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 164 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 CATATACAGATAGCTCTGATG 0.418000 13 58 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136918507 136918507 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:136918507C>T ENST00000303407.7 - 2 278 c.93G>A c.(91-93)aaG>aaA p.K31K BRD3_ENST00000357885.2_Silent_p.K31K|BRD3_ENST00000371834.2_Silent_p.K31K NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 31 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TGCGGCCGGGCTTGCTGGGGT 0.682000 T C15orf55 lethal midline carcinoma of young people 18 29 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83344295 83344295 + Silent SNP G G A rs138430783 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:83344295G>A ENST00000398309.2 - 14 2054 c.1584C>T c.(1582-1584)tcC>tcT p.S528S DLG2_ENST00000537455.1_Silent_p.S282S|DLG2_ENST00000376104.2_Silent_p.S633S|DLG2_ENST00000398304.1_Silent_p.S10S|DLG2_ENST00000376106.3_Silent_p.S10S|DLG2_ENST00000543673.1_Silent_p.S633S|DLG2_ENST00000530800.1_Silent_p.S37S|DLG2_ENST00000531015.1_Silent_p.S495S|DLG2_ENST00000418306.2_Silent_p.S425S|DLG2_ENST00000532653.1_Silent_p.S528S|DLG2_ENST00000426717.2_Silent_p.S10S|DLG2_ENST00000524982.1_Silent_p.S528S|DLG2_ENST00000280241.8_Silent_p.S567S|DLG2_ENST00000404783.3_Silent_p.S10S|DLG2_ENST00000330014.6_Silent_p.S467S NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 528 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GCAGGGATCCGGACCCGGAGC 0.463000 6 42 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37184639 37184639 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:37184639T>C ENST00000338564.5 - 13 1594 c.1148A>G c.(1147-1149)gAc>gGc p.D383G MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.D383G|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.D390G|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 390 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) AGAAACGTAGTCCCCTGGCAT 0.448000 12 147 0 0 1 0 0 C3orf36 80111 broad.mit.edu 37 3 133647234 133647234 + Silent SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:133647234G>C ENST00000408895.2 - 1 1422 c.414C>G c.(412-414)ctC>ctG p.L138L NM_025041.2 NP_079317.2 Q3SXR2 CC036_HUMAN chromosome 3 open reading frame 36 138 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 CAGATGAGAAGAGAGAGAAGG 0.567000 7 43 0 0 1 0 0 TFAP2C 7022 broad.mit.edu 37 20 55209228 55209228 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:55209228C>T ENST00000201031.2 + 5 1069 c.826C>T c.(826-828)Cgg>Tgg p.R276W TFAP2C_ENST00000544508.1_Missense_Mutation_p.R107W NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 276 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) AAATGGAGGCCGGTCCTTGCG 0.448000 17 53 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60581890 60581890 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:60581890C>T ENST00000406854.1 + 4 1622 c.1068C>T c.(1066-1068)tgC>tgT p.C356C PCNXL4_ENST00000406949.1_Silent_p.C122C|PCNXL4_ENST00000404681.2_Silent_p.C356C|PCNXL4_ENST00000317623.4_Silent_p.C122C pecanex-like 4 (Drosophila) GGAAGGAATGCCTTTTCTACA 0.383000 14 83 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194182907 194182907 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:194182907C>T ENST00000439040.1 - 3 804 c.13G>A c.(13-15)Gaa>Aaa p.E5K ATP13A3_ENST00000256031.4_Missense_Mutation_p.E5K Q9H7F0 AT133_HUMAN ATPase type 13A3 5 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GTCTTCCTTTCTTCCCTGTCC 0.398000 22 51 0 0 1 0 0 NOP58 51602 broad.mit.edu 37 2 203160400 203160400 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:203160400C>T ENST00000264279.5 + 10 1137 c.911C>T c.(910-912)tCt>tTt p.S304F NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 304 Nop. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TTTGTAGGTTCTCTTTTAAAT 0.388000 17 100 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106887295 106887295 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:106887295G>A ENST00000286398.7 + 18 2648 c.2360G>A c.(2359-2361)aGa>aAa p.R787K SMC2_ENST00000374787.3_Missense_Mutation_p.R787K|SMC2_ENST00000303219.8_Missense_Mutation_p.R787K|SMC2_ENST00000374793.3_Missense_Mutation_p.R787K NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 787 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 GAAGCTGAAAGAGAGCGAGAA 0.338000 12 77 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204304414 204304414 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:204304414C>T ENST00000319170.5 - 14 3798 c.3499G>A c.(3499-3501)Gct>Act p.A1167T RAPH1_ENST00000374493.3_Missense_Mutation_p.A1219T|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 1167 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTGAGGTCAGCCAGGAATCCA 0.547000 7 68 0 0 1 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075602 106075602 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:106075602C>G ENST00000278071.2 - 3 660 c.208G>C c.(208-210)Gag>Cag p.E70Q ITPRIP_ENST00000358187.2_Missense_Mutation_p.E70Q|ITPRIP_ENST00000337478.1_Missense_Mutation_p.E70Q NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 70 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 GCCACCTGCTCCAGTGCCTCC 0.642000 10 67 0 0 1 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61959661 61959661 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:61959661G>C ENST00000306238.3 + 2 258 c.189G>C c.(187-189)aaG>aaC p.K63N NM_006552.1 NP_006543.1 O95968 SG1D1_HUMAN secretoglobin, family 1D, member 1 63 extracellular space binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 9 TGGAAGTGAAGAAATGCGTGG 0.433000 8 71 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45804756 45804756 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:45804756G>T ENST00000357450.4 - 2 132 c.133C>A c.(133-135)Ctt>Att p.L45I SMC1B_ENST00000404354.3_Missense_Mutation_p.L45I NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 45 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ACAAAACTAAGTGCATCCATT 0.338000 5 94 0.000602214 0.000633666 1 1 0 PRDM12 59335 broad.mit.edu 37 9 133542071 133542071 + Silent SNP C C T rs143960255 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:133542071C>T ENST00000253008.2 + 2 360 c.300C>T c.(298-300)ctC>ctT p.L100L NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 100 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GCGAGGGCCTCGGCATCTTCT 0.642000 8 73 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4950909 4950909 + RNA SNP T T G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:4950909T>G ENST00000592666.1 + 0 2295 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) AGTCCGGGTTTCTCGTGTGGC 0.637000 21 54 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79973272 79973272 + Splice_Site SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:79973272G>T ENST00000360280.3 + 57 8213 c.e57-1 VPS13A_ENST00000357409.5_Splice_Site|VPS13A_ENST00000376634.4_Splice_Site|VPS13A_ENST00000376636.3_Splice_Site NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TATTTTCTTAGATCCAAAATC 0.328000 6 38 0.00116845 0.0012201 1 1 0 IFT140 9742 broad.mit.edu 37 16 1630804 1630804 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:1630804C>T ENST00000426508.2 - 13 1843 c.1480G>A c.(1480-1482)Gtt>Att p.V494I IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 494 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) ACCGTGTAAACGTTTTCTTCA 0.498000 6 41 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117120153 117120153 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:117120153G>A ENST00000369486.3 - 11 4131 c.3366C>T c.(3364-3366)aaC>aaT p.N1122N IGSF3_ENST00000318837.6_Silent_p.N1142N|IGSF3_ENST00000369483.1_Silent_p.N1142N NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1122 integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGAGTGCGTCGTTGGAGCAGA 0.488000 8 28 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131925327 131925327 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:131925327C>A ENST00000403834.3 - 15 1938 c.1765G>T c.(1765-1767)Gga>Tga p.G589* MED23_ENST00000368060.3_Nonsense_Mutation_p.G583*|MED23_ENST00000368058.1_Nonsense_Mutation_p.G589*|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Nonsense_Mutation_p.G224*|MED23_ENST00000540546.1_Nonsense_Mutation_p.G589*|MED23_ENST00000368068.3_Nonsense_Mutation_p.G583*|MED23_ENST00000354577.4_Nonsense_Mutation_p.G589*|MED23_ENST00000368053.4_Nonsense_Mutation_p.G589* Q9ULK4 MED23_HUMAN mediator complex subunit 23 583 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTGATAAATCCTTTGATGCCC 0.413000 8 60 1.12685e-05 1.23701e-05 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7811401 7811401 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:7811401G>A ENST00000303635.7 + 20 5039 c.4832G>A c.(4831-4833)gGc>gAc p.G1611D CAMTA1_ENST00000439411.2_Missense_Mutation_p.G1597D|CAMTA1_ENST00000476864.1_Missense_Mutation_p.G175D NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1611 IQ 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AAGAAATGTGGCAAAAGACGG 0.483000 T WWTR1 epitheliod hemangioendothelioma 4 118 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57760814 57760814 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:57760814G>A ENST00000269122.3 + 26 4382 c.4108G>A c.(4108-4110)Gaa>Aaa p.E1370K CLTC_ENST00000393043.1_Missense_Mutation_p.E1370K|CLTC_ENST00000579456.1_Missense_Mutation_p.E307K NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1370 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CAAGTATGAAGAATATGATAA 0.373000 T """ALK, TFE3""" """ALCL, renal """ 4 30 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15800125 15800125 + Missense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:15800125A>T ENST00000281172.5 - 15 1940 c.1504T>A c.(1504-1506)Tcc>Acc p.S502T EPS8_ENST00000543612.1_Missense_Mutation_p.S502T|EPS8_ENST00000543523.1_Missense_Mutation_p.S502T|EPS8_ENST00000540613.1_Missense_Mutation_p.S242T|EPS8_ENST00000542903.1_Missense_Mutation_p.S242T NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 502 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TCCAGGTGGGATCCTCTTGTG 0.453000 13 56 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73240177 73240177 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:73240177C>T ENST00000377110.3 - 13 1946 c.1703G>A c.(1702-1704)gGg>gAg p.G568E TRPM3_ENST00000358082.3_Missense_Mutation_p.G440E|TRPM3_ENST00000396292.4_Missense_Mutation_p.G440E|TRPM3_ENST00000423814.3_Missense_Mutation_p.G595E|TRPM3_ENST00000357533.2_Missense_Mutation_p.G582E|TRPM3_ENST00000377105.1_Missense_Mutation_p.G427E|TRPM3_ENST00000396280.5_Missense_Mutation_p.G427E|TRPM3_ENST00000408909.2_Missense_Mutation_p.G427E|TRPM3_ENST00000377106.1_Missense_Mutation_p.G440E|TRPM3_ENST00000396285.1_Missense_Mutation_p.G415E|TRPM3_ENST00000377111.2_Missense_Mutation_p.G568E|TRPM3_ENST00000360823.2_Missense_Mutation_p.G440E Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCGATAAGCCCCGCCCATCAG 0.572000 6 27 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228111878 228111878 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:228111878T>C ENST00000272164.5 - 3 586 c.576A>G c.(574-576)cgA>cgG p.R192R NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 192 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) CCACACGGGCTCGCAGATCCT 0.617000 4 75 0 0 1 0 0 ATP2C1 27032 broad.mit.edu 37 3 130718463 130718463 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:130718463G>T ENST00000510168.1 + 27 3139 c.2589G>T c.(2587-2589)ccG>ccT p.P863P ATP2C1_ENST00000508532.1_Silent_p.P863P|ATP2C1_ENST00000507488.2_Silent_p.P847P|ATP2C1_ENST00000504948.1_Silent_p.P847P|ATP2C1_ENST00000422190.2_Silent_p.P863P|ATP2C1_ENST00000505330.1_Silent_p.P847P|ATP2C1_ENST00000359644.3_Silent_p.P863P|ATP2C1_ENST00000504381.1_Silent_p.P808P|ATP2C1_ENST00000428331.2_Silent_p.P863P|ATP2C1_ENST00000533801.2_Silent_p.P858P|ATP2C1_ENST00000328560.8_Silent_p.P863P|ATP2C1_ENST00000513801.1_Silent_p.P847P|ATP2C1_ENST00000393221.4_Silent_p.P897P P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 863 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) ACTTTCCTCCGCTTCAGAAGG 0.348000 Hailey-Hailey disease 8 65 5.18039e-06 5.70509e-06 1 1 0 SMARCA1 6594 broad.mit.edu 37 X 128622975 128622975 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:128622975G>C ENST00000371122.4 - 16 2165 c.2036C>G c.(2035-2037)tCt>tGt p.S679C SMARCA1_ENST00000371121.3_Missense_Mutation_p.S667C|SMARCA1_ENST00000371123.1_Missense_Mutation_p.S667C NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 679 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ACTCTCTTTAGAAGCAAAAAC 0.363000 3 27 0 0 1 0 0 GNPTG 84572 broad.mit.edu 37 16 1411766 1411766 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:1411766C>G ENST00000204679.4 + 4 244 c.201C>G c.(199-201)ctC>ctG p.L67L NM_032520.4 NP_115909.1 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphate transferase, gamma subunit 67 extracellular region|Golgi apparatus protein binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 Hepatocellular(780;0.0893) TCTTCCGACTCTCGGGCAAGT 0.607000 3 33 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42392170 42392170 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:42392170G>A ENST00000599846.1 + 2 142 c.17G>A c.(16-18)cGa>cAa p.R6Q ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R21Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R21Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R6Q|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R6Q|ARHGEF1_ENST00000596957.1_Intron Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 6 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GACTTCGCCCGAGGGGCGGTG 0.657000 6 30 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355033 33355033 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:33355033G>C ENST00000023064.4 - 4 638 c.447C>G c.(445-447)atC>atG p.I149M SLC7A9_ENST00000590341.1_Missense_Mutation_p.I149M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.I149M NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 149 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATTTCACAACGATTTGAGGAG 0.597000 8 35 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087408 47087408 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:47087408C>T ENST00000374312.1 + 3 1044 c.625C>T c.(625-627)Cac>Tac p.H209Y NPY4R_ENST00000395716.1_Missense_Mutation_p.H209Y NM_005972.4 NP_005963.4 neuropeptide Y receptor Y4 GCCACTGGCTCACCACCGCAC 0.582000 4 142 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42470513 42470513 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:42470513C>A ENST00000318006.5 - 10 1025 c.863G>T c.(862-864)aGc>aTc p.S288I VPS39_ENST00000348544.4_Missense_Mutation_p.S299I NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 299 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) AAAATGATTGCTGGCCACATA 0.433000 14 55 1.49906e-05 1.64034e-05 1 1 0 ZNF611 81856 broad.mit.edu 37 19 53210069 53210069 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:53210069C>T ENST00000543227.1 - 6 513 c.239G>A c.(238-240)gGc>gAc p.G80D ZNF611_ENST00000453741.2_Missense_Mutation_p.G11D|ZNF611_ENST00000600943.1_Silent_p.R62R|ZNF611_ENST00000602162.1_Missense_Mutation_p.G11D|ZNF611_ENST00000319783.1_Missense_Mutation_p.G80D|ZNF611_ENST00000595798.1_Missense_Mutation_p.G11D|ZNF611_ENST00000540744.1_Missense_Mutation_p.G80D|ZNF611_ENST00000596702.1_3'UTR NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 80 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTCTGTATTGCCTTGCCCTGT 0.363000 11 211 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43314959 43314959 + Missense_Mutation SNP C C T rs138651184 byFrequency TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:43314959C>T ENST00000331495.3 + 9 1183 c.847C>T c.(847-849)Cgg>Tgg p.R283W FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.R283W NM_005892.3 NP_005883 O95466 FMNL_HUMAN formin-like 1 283 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 GTGCTTGGTGCGGGGAGGACA 0.587000 27 118 0 0 1 0 0 TRAV38-1 28644 broad.mit.edu 37 14 22739860 22739860 + RNA SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:22739860C>T ENST00000390464.2 + 0 10 CAGCATGACACGAGTTAGCTT 0.512000 7 36 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38679306 38679306 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:38679306G>A ENST00000267377.2 + 3 1329 c.712G>A c.(712-714)Gct>Act p.A238T NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 238 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GCCCGTGGGGGCTATCTGCCT 0.607000 4 35 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108985879 108985879 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:108985879T>A ENST00000392806.3 - 2 449 c.281A>T c.(280-282)tAc>tTc p.Y94F NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 94 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CAGCATCACGTACTGGCGGAA 0.622000 9 43 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5780604 5780604 + Splice_Site SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:5780604C>A ENST00000425013.2 - 4 1097 c.873G>T c.(871-873)acG>acT p.T291T RNF216_ENST00000389902.3_Splice_Site_p.T348T NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 291 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TAAAACTTACCGTTTCTTTCA 0.343000 11 64 1.08611e-07 1.23176e-07 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971018 21971018 + Missense_Mutation SNP G G T rs104894104 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:21971018G>T ENST00000579755.1 - 2 675 c.383C>A c.(382-384)gCc>gAc p.A128D CDKN2A_ENST00000304494.5_Missense_Mutation_p.P114T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63T|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A128D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63T|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63T|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114T|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114T|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A169D|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114T|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63T P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.P114S(2)|p.H83fs*2(2)|p.0(1)|p.A68fs*3(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGTCCACGGGCAGACGGCCC 0.726000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 17 3.09899e-07 3.46298e-07 1 1 0 ROS1 6098 broad.mit.edu 37 6 117645493 117645493 + Splice_Site SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:117645493A>C ENST00000368508.3 - 34 5840 c.e34+1 GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TATTATACTTACCAAAGGTCA 0.284000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 3 57 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41988466 41988466 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:41988466G>C ENST00000219905.7 + 3 1439 c.1258G>C c.(1258-1260)Gat>Cat p.D420H MGA_ENST00000570161.1_Missense_Mutation_p.D420H|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.D420H|MGA_ENST00000389936.4_Missense_Mutation_p.D420H|MGA_ENST00000566586.1_Missense_Mutation_p.D420H NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 420 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CAGTGATGATGATCCTATACT 0.438000 13 48 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377381 49377381 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:49377381C>A ENST00000200453.5 + 2 1160 c.891C>A c.(889-891)ccC>ccA p.P297P NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 297 Glu-rich. P -> L (in Ref. 2; CAG33540). apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCCAGAGGCCCCAGCTCAAGT 0.602000 9 36 0.0477658 0.0482589 1 1 0 ETV3L 440695 broad.mit.edu 37 1 157068581 157068581 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:157068581G>A ENST00000454449.2 - 3 687 c.403C>T c.(403-405)Cgg>Tgg p.R135W NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGCGGCGCCCGCACTTCCCAC 0.577000 16 69 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165703464 165703464 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:165703464C>G ENST00000230301.8 - 7 1233 c.1213G>C c.(1213-1215)Gag>Cag p.E405Q C6orf118_ENST00000494696.2_5'UTR|C6orf118_ENST00000543069.1_3'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 405 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GCTTGTATCTCATCCCACTTA 0.343000 18 103 0 0 1 0 0 RBP1 5947 broad.mit.edu 37 3 139257789 139257789 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:139257789G>A ENST00000483943.2 - 2 272 c.272C>T c.(271-273)gCc>gTc p.A91V RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.A91V|RBP1_ENST00000232219.2_Missense_Mutation_p.A91V NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 29 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) TTTGCGCAAGGCCACATTGAC 0.562000 5 94 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 160994700 160994700 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:160994700G>C ENST00000283249.2 - 9 1355 c.1118C>G c.(1117-1119)tCt>tGt p.S373C ITGB6_ENST00000428609.2_Missense_Mutation_p.S331C|ITGB6_ENST00000409872.1_Missense_Mutation_p.S373C|ITGB6_ENST00000409967.2_Missense_Mutation_p.S373C NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 373 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TTCCACCTCAGACCGCAGTTC 0.413000 12 78 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48956349 48956349 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:48956349T>C ENST00000294954.7 - 3 272 c.251A>G c.(250-252)gAt>gGt p.D84G LHCGR_ENST00000405626.1_Missense_Mutation_p.D84G|LHCGR_ENST00000401907.1_Missense_Mutation_p.D84G|LHCGR_ENST00000344775.3_Missense_Mutation_p.D84G|LHCGR_ENST00000403273.1_Missense_Mutation_p.D84G|STON1-GTF2A1L_ENST00000402114.2_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 84 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TTCCAGGGAATCAATCTGAGA 0.408000 15 90 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46407253 46407253 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:46407253G>A ENST00000433765.2 - 1 854 c.855C>T c.(853-855)cgC>cgT p.R285R NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 285 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) CAGCCACGGGGCGCGGTGGCG 0.687000 5 26 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15207410 15207410 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:15207410C>A ENST00000395930.1 - 9 1502 c.1316G>T c.(1315-1317)aGg>aTg p.R439M TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Missense_Mutation_p.R439M NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 439 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CTCTGCATCCCTCAGGCGCTG 0.532000 8 34 0.000274275 0.00029219 1 1 0 GPR50 9248 broad.mit.edu 37 X 150349125 150349125 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:150349125C>T ENST00000218316.3 + 2 1139 c.1070C>T c.(1069-1071)gCt>gTt p.A357V NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 357 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GCCTGTCCTGCTGTGGAGGAA 0.622000 12 41 0 0 1 0 0 EHD1 10938 broad.mit.edu 37 11 64645744 64645744 + Missense_Mutation SNP C C A rs3205255 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:64645744C>A ENST00000320631.3 - 1 447 c.193G>T c.(193-195)Ggg>Tgg p.G65W EHD1_ENST00000359393.2_Missense_Mutation_p.G65W NM_001282445.1|NM_006795.2 NP_001269374.1|NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 65 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 CTGTACTGCCCCACGAGGAGC 0.632000 10 58 3.86212e-05 4.15967e-05 1 1 0 CD33 945 broad.mit.edu 37 19 51728762 51728762 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:51728762G>C ENST00000262262.4 + 2 347 c.326G>C c.(325-327)aGg>aCg p.R109T CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R109T|CD33_ENST00000421133.2_Intron NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 109 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) GTAGACGCCAGGAGGAGGGAT 0.507000 13 66 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187629483 187629483 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:187629483T>C ENST00000441802.2 - 2 1708 c.1499A>G c.(1498-1500)tAc>tGc p.Y500C NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 500 Cadherin 4. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCGATACTGTATGTCACGTA 0.493000 HNSCC(5;0.00058) 9 110 0 0 1 0 0 SARS2 54938 broad.mit.edu 37 19 39421124 39421124 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:39421124C>T ENST00000221431.6 - 1 412 c.253G>A c.(253-255)Gac>Aac p.D85N CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.D85N|SARS2_ENST00000430193.3_Missense_Mutation_p.D85N NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial 85 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCGGGCAGGTCCGCCGAGCGC 0.677000 OREG0025455|OREG0032101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 10 46 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 95993712 95993712 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:95993712C>G ENST00000324765.8 + 3 640 c.293C>G c.(292-294)tCt>tGt p.S98C DIAPH2_ENST00000373054.4_Missense_Mutation_p.S87C|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S98C|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S98C|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S98C O60879 DIAP2_HUMAN diaphanous-related formin 2 98 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GATGAACGATCTTTGAATTTG 0.343000 11 35 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134147328 134147328 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:134147328G>A ENST00000389887.5 + 2 2628 c.132G>A c.(130-132)gcG>gcA p.A44A GLB1L3_ENST00000431683.2_Silent_p.A44A Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 44 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TTGGAAGAGCGCATCCGTCCC 0.502000 15 111 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47037250 47037250 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:47037250G>A ENST00000450053.3 + 14 2124 c.1945G>A c.(1945-1947)Gcc>Acc p.A649T NBEAL2_ENST00000292309.5_Missense_Mutation_p.A649T|NBEAL2_ENST00000383740.2_5'UTR NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 649 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CTTCACGGCGGCCGGGACCCT 0.602000 3 34 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138200359 138200359 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:138200359C>G ENST00000237289.4 + 7 1843 c.1777C>G c.(1777-1779)Caa>Gaa p.Q593E NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 593 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.Q593*(1)|p.P587fs*93(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTGCCTGTCTCAAGCTGCACG 0.607000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 14 60 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59911493 59911493 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:59911493C>G ENST00000396065.1 + 3 1504 c.1056C>G c.(1054-1056)taC>taG p.Y352* GCNT3_ENST00000560585.1_Nonsense_Mutation_p.Y352* NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 352 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ACCCCAAGTACGACATCTCAG 0.537000 20 73 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43934544 43934544 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:43934544C>T ENST00000282406.4 + 11 1936 c.1826C>T c.(1825-1827)gCg>gTg p.A609V NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 609 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTTTAGAAGGCGACCCAAATA 0.493000 8 88 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30012000 30012000 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:30012000G>A ENST00000346128.6 - 20 3458 c.2984C>T c.(2983-2985)tCg>tTg p.S995L TJP1_ENST00000356107.6_Missense_Mutation_p.S995L|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 995 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATCTACATGCGACGACAATGA 0.443000 4 109 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145737616 145737616 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:145737616G>A ENST00000428558.2 - 19 3188 c.3147C>T c.(3145-3147)gaC>gaT p.D1049D RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 1049 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CACATATCTGGTCCTTCTCCT 0.647000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 5 18 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102134098 102134098 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:102134098T>C ENST00000369138.1 + 6 1311 c.821T>C c.(820-822)gTt>gCt p.V274A GRIK2_ENST00000358361.3_Missense_Mutation_p.V274A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V274A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V274A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V225A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V274A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V274A NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 274 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TACAGTGGTGTTAACATGACA 0.423000 13 35 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112326054 112326054 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:112326054A>G ENST00000206423.3 - 7 3428 c.2475T>C c.(2473-2475)gtT>gtC p.V825V CCDC80_ENST00000439685.2_Silent_p.V825V NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 825 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 ACACTCCCCCAACTTCCTCTC 0.363000 7 61 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56079471 56079471 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:56079471C>G ENST00000395471.3 - 8 1467 c.662G>C c.(661-663)gGa>gCa p.G221A PSPH_ENST00000275605.3_Missense_Mutation_p.G221A|PSPH_ENST00000459834.1_5'UTR P78330 SERB_HUMAN phosphoserine phosphatase 221 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTCCAGTTCTCCCAGCAGCTC 0.388000 5 55 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99514792 99514792 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:99514792G>A ENST00000261037.3 + 5 2427 c.2047G>A c.(2047-2049)Gag>Aag p.E683K COL8A1_ENST00000273342.4_Missense_Mutation_p.E683K NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 683 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 CAAGAACAACGAGCCCGTGAT 0.562000 12 42 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30936329 30936329 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:30936329G>A ENST00000355537.3 + 2 2007 c.1860G>A c.(1858-1860)ctG>ctA p.L620L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGTATAACCTGCAGGGTCCTG 0.582000 23 133 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45368628 45368628 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:45368628G>A ENST00000252483.5 + 2 189 c.189G>A c.(187-189)ctG>ctA p.L63L PVRL2_ENST00000252485.4_Silent_p.L63L NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 63 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TTCCTGGACTGTACATCTCCC 0.652000 7 28 0 0 1 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38348913 38348913 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:38348913C>T ENST00000436615.3 + 12 1584 c.1094C>T c.(1093-1095)cCt>cTt p.P365L RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.P414L|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.P365L|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.P420L NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 571 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 ATGAAGCCCCCTGTGATTCCC 0.532000 10 217 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 46000443 46000443 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:46000443T>C ENST00000400372.1 - 1 38 c.13A>G c.(13-15)Acc>Gcc p.T5A TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 5 keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 ACGGACATGGTGCACGCGGCC 0.652000 8 52 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49950153 49950153 + Splice_Site SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:49950153G>A ENST00000257981.6 + 13 2729 c.2469G>A c.(2467-2469)agG>agA p.R823R NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 823 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GGGTTCACAGGGTAGTAGATG 0.612000 3 57 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89133467 89133467 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:89133467G>A ENST00000535633.1 - 10 1165 c.855C>T c.(853-855)gtC>gtT p.V285V NOX4_ENST00000413594.2_Silent_p.V330V|NOX4_ENST00000343727.5_Silent_p.V285V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000424319.1_Silent_p.V285V|NOX4_ENST00000263317.4_Silent_p.V309V|NOX4_ENST00000534731.1_Silent_p.V309V|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Silent_p.V285V|NOX4_ENST00000527626.1_Silent_p.V143V|NOX4_ENST00000528341.1_Silent_p.V284V|NOX4_ENST00000527956.1_Silent_p.V285V|NOX4_ENST00000532825.1_Silent_p.V285V NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 309 Ferric oxidoreductase.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AAATGATGGTGACTGGCTTAT 0.428000 5 80 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 978034 978034 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:978034G>T ENST00000537687.1 + 9 3785 c.3142G>T c.(3142-3144)Gaa>Taa p.E1048* WNK1_ENST00000574564.1_Nonsense_Mutation_p.E347*|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Nonsense_Mutation_p.E1133*|WNK1_ENST00000340908.4_Intron NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 806 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AGGAAGCCCAGAATATTCCAG 0.498000 13 72 2.27111e-07 2.55873e-07 1 1 0 MCPH1 79648 broad.mit.edu 37 8 6302795 6302795 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:6302795G>A ENST00000344683.5 + 8 1628 c.1552G>A c.(1552-1554)Gca>Aca p.A518T MCPH1_ENST00000522905.1_Missense_Mutation_p.A470T|MCPH1_ENST00000519480.1_Missense_Mutation_p.A518T NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 518 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GAAAGAAGACGCATGCCCAGA 0.488000 19 56 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60173277 60173277 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:60173277C>T ENST00000261187.4 + 5 1418 c.1254C>T c.(1252-1254)agC>agT p.S418S SLC16A7_ENST00000552432.1_Silent_p.S418S|SLC16A7_ENST00000547379.1_Silent_p.S418S|SLC16A7_ENST00000543448.1_Silent_p.S319S|SLC16A7_ENST00000552024.1_Silent_p.S418S NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 418 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TAGCAGCAAGCGTGTGGCTGC 0.413000 3 45 0 0 1 0 0 TMEM39A 55254 broad.mit.edu 37 3 119176954 119176954 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:119176954G>A ENST00000319172.5 - 3 667 c.247C>T c.(247-249)Ctg>Ttg p.L83L TMEM39A_ENST00000486159.1_5'UTR NM_018266.1 NP_060736.1 Q9NV64 TM39A_HUMAN transmembrane protein 39A 83 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) GCAACCAACAGGTAGATGAAA 0.413000 16 62 0 0 1 0 0 TESK2 10420 broad.mit.edu 37 1 45810775 45810775 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:45810775G>A ENST00000372086.3 - 11 1853 c.1453C>T c.(1453-1455)Cgc>Tgc p.R485C TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.R456C|TESK2_ENST00000538496.1_Missense_Mutation_p.R402C|TESK2_ENST00000341771.6_Missense_Mutation_p.R456C NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 485 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) CTACTTAGGCGTGGTGGGGGC 0.557000 20 108 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209905860 209905860 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:209905860G>A ENST00000367028.2 + 6 766 c.597G>A c.(595-597)aaG>aaA p.K199K HSD11B1_ENST00000261465.1_Silent_p.K199K|HSD11B1_ENST00000367027.3_Silent_p.K199K NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 199 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) CCATCAGAAAGGAATATTCAG 0.383000 8 143 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134084313 134084313 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:134084313G>T ENST00000264360.5 + 4 3805 c.2979G>T c.(2977-2979)caG>caT p.Q993H NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CAGAAGCCCAGCCTGGGGCAG 0.547000 25 117 2.44723e-14 2.88529e-14 1 1 0 GP2 2813 broad.mit.edu 37 16 20326023 20326023 + Splice_Site SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:20326023C>T ENST00000302555.5 - 10 1651 c.1502G>A c.(1501-1503)gGt>gAt p.G501D GP2_ENST00000381360.5_Splice_Site_p.G357D|GP2_ENST00000381362.4_Splice_Site_p.G504D|GP2_ENST00000341642.5_Splice_Site_p.G354D P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 504 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGACTGTGCACCTGTGAACAA 0.512000 7 30 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215845305 215845305 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:215845305C>T ENST00000272895.7 - 31 4861 c.4642G>A c.(4642-4644)Gcc>Acc p.A1548T ABCA12_ENST00000389661.4_Missense_Mutation_p.A1230T NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1548 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCCAGGAAGGCGATGCGGTCA 0.512000 11 47 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87960473 87960473 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:87960473C>T ENST00000309893.2 - 2 286 c.221G>A c.(220-222)aGc>aAc p.S74N CA5A_ENST00000568801.1_5'UTR NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 74 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) GTCATAGACGCTGTCCCTCCA 0.597000 4 19 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75478359 75478359 + RNA SNP G G A rs73842006 by1000genomes TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:75478359G>A ENST00000459803.1 - 0 306 NR_024241.1 CATACAGCTCGTCCAAAGCCT 0.547000 3 17 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67649700 67649700 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:67649700C>T ENST00000335894.4 + 7 721 c.655C>T c.(655-657)Cgg>Tgg p.R219W IQCH_ENST00000358767.3_Missense_Mutation_p.R46W|IQCH_ENST00000546225.1_5'UTR NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 219 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CACTATACCTCGGGAACCACC 0.398000 8 33 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50667018 50667018 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:50667018T>A ENST00000355832.5 - 21 4403 c.4325A>T c.(4324-4326)gAt>gTt p.D1442V RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.D812V NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1442 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGCCTGGCCATCAGTGTGGGC 0.527000 Direct reversal of damage;Nucleotide excision repair (NER) 13 72 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216017670 216017670 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:216017670C>G ENST00000366943.2 - 46 9610 c.9224G>C c.(9223-9225)aGa>aCa p.R3075T USH2A_ENST00000307340.3_Missense_Mutation_p.R3075T O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3075 Fibronectin type-III 17. 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) AGACAGGTCTCTCAGAATAAA 0.378000 HNSCC(13;0.011) 9 45 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67680647 67680647 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:67680647G>A ENST00000334583.6 + 7 825 c.497G>A c.(496-498)tGt>tAt p.C166Y RLTPR_ENST00000545661.1_Missense_Mutation_p.C166Y NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 166 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GAGGCTCTGTGTGACTACAAT 0.552000 5 177 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647415 20647415 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:20647415G>T ENST00000272233.4 + 1 581 c.189G>T c.(187-189)caG>caT p.Q63H NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 63 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CGGCGGGCCAGGAGGACTACG 0.652000 16 80 1.52009e-12 1.7769e-12 1 1 0 CDH26 60437 broad.mit.edu 37 20 58558037 58558037 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:58558037C>G ENST00000348616.4 + 5 753 c.453C>G c.(451-453)ttC>ttG p.F151L CDH26_ENST00000244047.5_Missense_Mutation_p.F151L NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 151 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCTTGATTTTCAACATTAGGA 0.413000 19 112 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6621665 6621665 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:6621665G>A ENST00000285599.3 + 18 2862 c.2826G>A c.(2824-2826)caG>caA p.Q942Q MAN2B2_ENST00000504248.1_Silent_p.Q891Q NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 942 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 CTGTGCTGCAGGCGCTGGGGT 0.657000 7 47 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53585655 53585655 + Silent SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:53585655G>C ENST00000267082.5 - 15 2535 c.2304C>G c.(2302-2304)ctC>ctG p.L768L ITGB7_ENST00000338737.4_Silent_p.L620L|ITGB7_ENST00000422257.3_Silent_p.L768L|ITGB7_ENST00000550743.2_Silent_p.L620L NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 768 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCTTCCAGTTGAGTTGTTGCT 0.592000 3 56 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166621536 166621536 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:166621536A>G ENST00000392701.3 - 3 1321 c.546T>C c.(544-546)ccT>ccC p.P182P NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 182 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TGGGCAGGGGAGGGCAGCGCT 0.383000 13 44 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204588349 204588349 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:204588349C>A ENST00000367175.1 - 1 2984 c.772G>T c.(772-774)Gaa>Taa p.E258* LRRN2_ENST00000367176.3_Nonsense_Mutation_p.E258*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.E258* O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 258 cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCACCTGTTCCAGTGCCCGC 0.637000 12 40 4.36969e-10 5.03065e-10 1 1 0 PPP1R10 5514 broad.mit.edu 37 6 30570103 30570103 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:30570103C>T ENST00000376511.2 - 19 2875 c.2323G>A c.(2323-2325)Ggt>Agt p.G775S NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 775 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCCATGCCACCGCCAGGGCCT 0.672000 25 127 0 0 1 0 0 PI16 221476 broad.mit.edu 37 6 36922641 36922641 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:36922641G>C ENST00000373674.3 + 1 433 c.105G>C c.(103-105)ttG>ttC p.L35F NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 35 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGAAACGTTTGATGGTGGAGC 0.612000 7 37 0 0 1 0 0 DND1 373863 broad.mit.edu 37 5 140052115 140052115 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:140052115G>A ENST00000542735.1 - 3 562 c.519C>T c.(517-519)agC>agT p.S173S NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 173 RRM 2. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGTCCGGGGCTGGGCAGCA 0.721000 4 7 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314884 48314884 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:48314884C>G ENST00000435803.1 + 17 5645 c.5621C>G c.(5620-5622)tCa>tGa p.S1874* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1874 transport integral to membrane ATP binding|ATPase activity p.S1819*(1)|p.S1874*(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCACCATGTTCAAATGAAAGC 0.423000 5 44 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74116130 74116130 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:74116130G>C ENST00000370336.4 + 7 1009 c.851G>C c.(850-852)gGa>gCa p.G284A DDX43_ENST00000539829.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 284 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GATCTTATAGGAGTAGCCCAG 0.423000 13 45 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964871 3964871 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:3964871T>C ENST00000545797.2 - 3 424 c.181A>G c.(181-183)Atc>Gtc p.I61V DAPK3_ENST00000301264.3_Missense_Mutation_p.I61V O43293 DAPK3_HUMAN death-associated protein kinase 3 61 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCGCTCGATCTCCTCCCGG 0.627000 6 56 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71831288 71831288 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:71831288G>A ENST00000377245.4 + 3 356 c.148G>A c.(148-150)Gga>Aga p.G50R TJP2_ENST00000539225.1_Missense_Mutation_p.G81R|TJP2_ENST00000377259.1_Missense_Mutation_p.G27R|TJP2_ENST00000265384.7_Missense_Mutation_p.G50R|TJP2_ENST00000348208.4_Missense_Mutation_p.G50R|TJP2_ENST00000453658.2_Missense_Mutation_p.G27R|TJP2_ENST00000535702.1_Missense_Mutation_p.G54R NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 50 PDZ 1. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TGCAGTGTCCGGAGGCAGAGA 0.453000 8 50 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150730953 150730953 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:150730953C>A ENST00000358849.4 + 2 450 c.357C>A c.(355-357)ctC>ctA p.L119L ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477719.1_Silent_p.L119L|ABCB8_ENST00000477092.1_Silent_p.L119L|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Silent_p.L119L|ABCB8_ENST00000356058.4_Silent_p.L156L|ABCB8_ENST00000297504.6_Silent_p.L136L NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 136 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACTGGAAGCTCTTCTGGCAGT 0.632000 7 49 5.18039e-06 5.70509e-06 1 1 0 VMP1 81671 broad.mit.edu 37 17 57915699 57915699 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:57915699G>C ENST00000262291.4 + 11 1328 c.1018G>C c.(1018-1020)Gag>Cag p.E340Q VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.E206Q|VMP1_ENST00000536180.1_Missense_Mutation_p.E243Q|VMP1_ENST00000539763.1_Missense_Mutation_p.E148Q|VMP1_ENST00000545362.1_Missense_Mutation_p.E284Q NM_030938.3 NP_112200.2 Q96GC9 VMP1_HUMAN vacuole membrane protein 1 340 autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 GCCATTTCAGGAGTACCTGGA 0.502000 6 47 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289481 160289481 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:160289481C>A ENST00000392783.2 - 9 2182 c.1687G>T c.(1687-1689)Ggg>Tgg p.G563W BAZ2B_ENST00000355831.2_Missense_Mutation_p.G563W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G561W|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G561W NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.G563R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TTTTCCTTCCCTTGACTATGC 0.448000 26 109 3.6726e-16 4.35248e-16 1 1 0 KIAA0825 285600 broad.mit.edu 37 5 93856216 93856216 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:93856216T>A ENST00000513200.3 - 4 779 c.707A>T c.(706-708)aAt>aTt p.N236I KIAA0825_ENST00000329378.7_Missense_Mutation_p.N236I|KIAA0825_ENST00000312498.7_Missense_Mutation_p.N236I|KIAA0825_ENST00000427991.2_Missense_Mutation_p.N236I NM_001145678.1 NP_001139150.1 Q8IV33 K0825_HUMAN KIAA0825 236 breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1) 13 TACATCTAAATTTGAATCTCT 0.308000 6 48 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67766695 67766695 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:67766695G>C ENST00000227471.2 - 5 714 c.635C>G c.(634-636)tCc>tGc p.S212C UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 212 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome GGGCGCGTGGGAGCCCCGCGG 0.602000 9 56 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135012105 135012105 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:135012105C>T ENST00000409645.1 + 2 383 c.131C>T c.(130-132)tCc>tTc p.S44F MGAT5_ENST00000281923.2_Missense_Mutation_p.S44F|MGAT5_ENST00000468758.1_3'UTR Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 44 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) GAAAGCAGCTCCATGCTGCGC 0.517000 4 24 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30035145 30035145 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:30035145G>A ENST00000338641.4 + 3 748 c.307G>A c.(307-309)Gag>Aag p.E103K NF2_ENST00000361166.4_Missense_Mutation_p.E103K|NF2_ENST00000361676.4_Missense_Mutation_p.E61K|NF2_ENST00000403999.3_Missense_Mutation_p.E103K|NF2_ENST00000334961.7_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.E103K|NF2_ENST00000397789.3_Missense_Mutation_p.E103K|NF2_ENST00000361452.4_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.E103K|NF2_ENST00000347330.5_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 103 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.H95fs*3(1)|p.V86_Q111>E(1)|p.L97fs*17(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 ATTTTATCCTGAGAATGCTGA 0.438000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 11 63 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56763459 56763459 + Missense_Mutation SNP G G A rs28504146 byFrequency TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:56763459G>A ENST00000267460.4 + 6 1124 c.838G>A c.(838-840)Gcc>Acc p.A280T NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 280 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 GATTAACGCCGCCCGGCCTCA 0.577000 11 21 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106497939 106497939 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:106497939G>A ENST00000233154.4 + 4 824 c.382G>A c.(382-384)Gat>Aat p.D128N NCK2_ENST00000522586.1_Intron|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.D128N NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 128 SH3 2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 CGAGCGGGAGGATGAGTTGTC 0.657000 6 49 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9391690 9391690 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:9391690C>T ENST00000378501.2 + 21 1985 c.1970C>T c.(1969-1971)gCg>gTg p.A657V PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A657V|PLCB4_ENST00000278655.4_Missense_Mutation_p.A657V|PLCB4_ENST00000334005.3_Missense_Mutation_p.A657V|PLCB4_ENST00000414679.2_Missense_Mutation_p.A669V|PLCB4_ENST00000378473.3_Missense_Mutation_p.A669V NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 657 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ACAGATTTAGCGATGCAATTG 0.373000 15 44 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70849104 70849104 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:70849104G>A ENST00000358731.4 + 35 7420 c.7157G>A c.(7156-7158)cGt>cAt p.R2386H BDP1_ENST00000380675.2_Missense_Mutation_p.V460I NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2386 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GCCAAAAAACGTTCACTCACT 0.373000 8 54 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137110 40137110 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:40137110G>T ENST00000278198.2 - 2 2696 c.733C>A c.(733-735)Ctt>Att p.L245I LRRC4C_ENST00000527150.1_Missense_Mutation_p.L245I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L245I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L245I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 245 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) AGTTTTTGAAGGTGCATCAAA 0.448000 5 68 0.000602214 0.000633666 1 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28327086 28327086 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:28327086G>A ENST00000284987.5 - 2 1330 c.1209C>T c.(1207-1209)caC>caT p.H403H NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 403 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.H403H(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGAAGGCTGCGTGGAGGCCAT 0.498000 4 54 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69434021 69434021 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:69434021G>T ENST00000317746.2 - 1 224 c.182C>A c.(181-183)tCt>tAt p.S61Y NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 61 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 GACAAGAATAGAAGCCGAAGA 0.358000 46 249 1.48734e-19 1.77496e-19 1 1 0 PPWD1 23398 broad.mit.edu 37 5 64867842 64867842 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:64867842C>T ENST00000261308.5 + 5 770 c.698C>T c.(697-699)cCa>cTa p.P233L PPWD1_ENST00000538977.1_Missense_Mutation_p.P77L|PPWD1_ENST00000535264.1_Missense_Mutation_p.P203L NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 233 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) CGGCTAAACCCAGTTTACAAA 0.398000 15 94 0 0 1 0 0 PHC3 80012 broad.mit.edu 37 3 169896669 169896669 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:169896669C>T ENST00000495893.2 - 2 103 c.72G>A c.(70-72)gtG>gtA p.V24V PHC3_ENST00000497658.1_Silent_p.V24V|PHC3_ENST00000481639.1_Silent_p.V24V|PHC3_ENST00000467570.1_Silent_p.V24V|PHC3_ENST00000494943.1_Silent_p.V12V|PHC3_ENST00000474275.1_Silent_p.V12V NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTGTTGTTGACACAGAAGATG 0.473000 37 215 0 0 1 0 0 MTURN 222166 broad.mit.edu 37 7 30197143 30197143 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:30197143G>C ENST00000324453.8 + 3 702 c.375G>C c.(373-375)caG>caC p.Q125H C7orf41_ENST00000324489.5_Missense_Mutation_p.Q92H|C7orf41_ENST00000455738.1_Missense_Mutation_p.Q92H|C7orf41_ENST00000415604.1_Missense_Mutation_p.Q125H|C7orf41_ENST00000409688.1_Missense_Mutation_p.Q84H NM_152793.2 NP_690006.2 Q8N3F0 CG041_HUMAN 125 p.Q125Q(1) NS(1)|large_intestine(2) 3 ACCACCCCCAGATGGGGGTCA 0.582000 19 77 0 0 1 0 0 SERPINA5 5104 broad.mit.edu 37 14 95057194 95057194 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:95057194G>A ENST00000329597.7 + 5 1209 c.999G>A c.(997-999)ctG>ctA p.L333L SERPINA5_ENST00000553780.1_Silent_p.L333L|SERPINA5_ENST00000554276.1_Silent_p.L333L|SERPINA5_ENST00000554866.1_Silent_p.L333L NM_000624.5 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 333 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) ATGCTGATCTGTCCGGCATCA 0.488000 19 100 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62713245 62713245 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:62713245C>A ENST00000371153.4 - 9 3160 c.2782G>T c.(2782-2784)Gat>Tat p.D928Y KANK4_ENST00000354381.3_Missense_Mutation_p.D300Y|KANK4_ENST00000371150.1_Missense_Mutation_p.D284Y|KANK4_ENST00000317477.4_Missense_Mutation_p.D66Y NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 928 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GAGGATCCATCGTGGTCCTGC 0.627000 11 59 0.00136819 0.0014265 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44578734 44578734 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:44578734C>A ENST00000289547.4 - 2 1317 c.1262G>T c.(1261-1263)aGg>aTg p.R421M NPC1L1_ENST00000381160.3_Missense_Mutation_p.R421M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R421M|NPC1L1_ENST00000423141.1_Missense_Mutation_p.R421M NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 421 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGAGTCATACCTGTAGCTGGA 0.592000 11 54 4.68919e-08 5.34458e-08 1 1 0 HCRTR2 3062 broad.mit.edu 37 6 55147195 55147195 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:55147195C>G ENST00000370862.3 + 7 1614 c.1278C>G c.(1276-1278)ctC>ctG p.L426L NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 426 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAGTTGTGCTCACTAGCATAA 0.443000 3 28 0 0 1 0 0 POLR2F 5435 broad.mit.edu 37 22 38421637 38421637 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:38421637C>A ENST00000405557.1 + 5 422 c.345C>A c.(343-345)gcC>gcA p.A115A POLR2F_ENST00000407936.1_Intron P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 0 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) acgcactggcccacagcctag 0.567000 3 15 0.115264 0.116112 1 1 0 PMPCA 23203 broad.mit.edu 37 9 139310759 139310759 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:139310759G>A ENST00000371717.3 + 6 558 c.549G>A c.(547-549)atG>atA p.M183I PMPCA_ENST00000399219.3_Missense_Mutation_p.M52I|PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000371720.1_3'UTR NM_001282946.1|NM_015160.1 NP_001269875.1|NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 183 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) AAGTCGAGATGACGCGGATGG 0.547000 7 60 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304979 114304979 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:114304979T>C ENST00000309235.5 + 6 1922 c.1764T>C c.(1762-1764)ttT>ttC p.F588F ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 588 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 GAAAAGCCTTTAGGCAGAATT 0.403000 3 79 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102343301 102343301 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:102343301G>A ENST00000438793.3 + 19 2625 c.2155G>A c.(2155-2157)Gtg>Atg p.V719M PAM_ENST00000346918.2_Missense_Mutation_p.V719M|PAM_ENST00000274392.9_Missense_Mutation_p.V622M|PAM_ENST00000379787.4_Missense_Mutation_p.V99M|PAM_ENST00000348126.2_Missense_Mutation_p.V612M|PAM_ENST00000304400.7_Missense_Mutation_p.V719M|PAM_ENST00000455264.2_Missense_Mutation_p.V719M NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 719 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CAAAGAATTTGTGAGAGAGAT 0.388000 4 78 0 0 1 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520823 159520823 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:159520823G>A ENST00000456329.3 - 2 868 c.834C>T c.(832-834)atC>atT p.I278I PWWP2A_ENST00000523662.1_Silent_p.I278I|PWWP2A_ENST00000307063.7_Silent_p.I278I NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 278 Pro-rich. kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGTGTCCCTGATAAACAAAG 0.483000 14 120 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124195347 124195347 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:124195347C>A ENST00000518448.1 + 2 2265 c.251C>A c.(250-252)aCc>aAc p.T84N FAM83A_ENST00000276699.6_Missense_Mutation_p.T84N|FAM83A_ENST00000536633.1_Missense_Mutation_p.T84N|FAM83A_ENST00000318462.6_Missense_Mutation_p.T84N|FAM83A_ENST00000522648.1_Missense_Mutation_p.T84N|FAM83A_ENST00000546351.1_Missense_Mutation_p.T84N Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 84 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CCCCCAGACACCCTGGGAGGG 0.682000 4 67 2.56e-06 2.83296e-06 1 1 0 DDHD1 80821 broad.mit.edu 37 14 53619005 53619005 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:53619005C>T ENST00000357758.3 - 1 995 c.812G>A c.(811-813)gGa>gAa p.G271E DDHD1_ENST00000395606.1_Missense_Mutation_p.G271E|DDHD1_ENST00000323669.5_Missense_Mutation_p.G271E NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 271 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GTAGCACTCTCCTTGGGTCAC 0.662000 4 19 0 0 1 0 0 EIF4E3 317649 broad.mit.edu 37 3 71733849 71733849 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:71733849C>A ENST00000425534.3 - 7 666 c.659G>T c.(658-660)gGa>gTa p.G220V EIF4E3_ENST00000448225.1_Missense_Mutation_p.G114V|EIF4E3_ENST00000389826.3_Missense_Mutation_p.G114V|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000295612.3_Missense_Mutation_p.G114V|EIF4E3_ENST00000421769.2_Missense_Mutation_p.G114V NM_001134651.1 NP_001128123.1 Q8N5X7 IF4E3_HUMAN eukaryotic translation initiation factor 4E family member 3 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity large_intestine(1)|lung(3) 4 Prostate(10;0.0166) BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227) TTTTCCACGTCCACCTTCAAA 0.393000 6 43 0.0293803 0.0298156 1 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589863 140589863 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:140589863G>A ENST00000239450.2 + 1 1573 c.1384G>A c.(1384-1386)Gag>Aag p.E462K PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 462 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGTCCGCGAGAACAACAG 0.617000 19 125 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25254227 25254227 + Missense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:25254227A>T ENST00000354454.3 + 15 1686 c.857A>T c.(856-858)aAt>aTt p.N286I LRMP_ENST00000548766.1_Missense_Mutation_p.N286I|LRMP_ENST00000547044.1_Missense_Mutation_p.N286I NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 342 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) CTTCTGCAGAATGAAAGGTCT 0.348000 5 60 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 91936755 91936755 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:91936755C>T ENST00000265742.3 + 3 647 c.271C>T c.(271-273)Caa>Taa p.Q91* NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 91 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TATGGGACCTCAAATTATGAT 0.403000 9 37 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57552247 57552247 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:57552247G>C ENST00000243077.3 + 11 2090 c.1624G>C c.(1624-1626)Gat>Cat p.D542H NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 542 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCGGGGCATGGATATGGGGGC 0.587000 3 45 0 0 1 0 0 KIAA1257 57501 broad.mit.edu 37 3 128712054 128712054 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:128712054C>T ENST00000265068.5 - 2 261 c.94G>A c.(94-96)Gac>Aac p.D32N KIAA1257_ENST00000511438.1_Missense_Mutation_p.D32N|KIAA1257_ENST00000510149.1_Intron NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 32 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 TCCTCCACGTCACACTCGCTC 0.597000 11 36 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100996773 100996773 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:100996773C>A ENST00000325455.5 - 2 3207 c.1754G>T c.(1753-1755)gGg>gTg p.G585V PGR_ENST00000534013.1_5'UTR|PGR_ENST00000263463.5_Missense_Mutation_p.G585V NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 585 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTTACAGCTCCCACAGGTAAG 0.428000 3 53 0.004672 0.00482703 1 1 0 COBL 23242 broad.mit.edu 37 7 51111333 51111333 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:51111333G>A ENST00000395542.2 - 10 1583 c.1399C>T c.(1399-1401)Ctg>Ttg p.L467L COBL_ENST00000265136.7_Silent_p.L385L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 385 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GCCTCTGACAGCACCTGCGGG 0.627000 8 35 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100996170 100996170 + Nonsense_Mutation SNP C C G rs144635721 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:100996170C>G ENST00000335290.6 + 7 1653 c.1427C>G c.(1426-1428)tCa>tGa p.S476* WDR25_ENST00000402312.3_Nonsense_Mutation_p.S476*|WDR25_ENST00000554998.1_Nonsense_Mutation_p.S476*|WDR25_ENST00000542471.2_Nonsense_Mutation_p.S219*|WDR25_ENST00000557502.1_3'UTR NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 476 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) GAGGGCTACTCAGTGGGCTGC 0.647000 3 35 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33195406 33195406 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:33195406A>G ENST00000309558.3 - 5 1135 c.718T>C c.(718-720)Tcc>Ccc p.S240P NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 240 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCCTCAGAGGAGTCTCCCTGA 0.522000 6 30 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55143752 55143752 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:55143752C>T ENST00000491143.2 + 2 1344 c.1312C>T c.(1312-1314)Cgc>Tgc p.R438C NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 438 organ morphogenesis nucleus sequence-specific DNA binding p.R438C(1) 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) TGACCTCCAACGCCGAACACT 0.522000 7 31 0 0 1 0 0 RMI2 116028 broad.mit.edu 37 16 11444624 11444624 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:11444624G>A ENST00000572173.1 + 5 877 c.232G>A c.(232-234)Gat>Aat p.D78N RMI2_ENST00000381820.2_Missense_Mutation_p.D78N|RMI2_ENST00000312499.5_Missense_Mutation_p.D141N|RMI2_ENST00000576027.1_3'UTR Q96E14 RMI2_HUMAN RecQ mediated genome instability 2 141 DNA replication nucleus DNA binding endometrium(1)|kidney(1)|ovary(1) 3 GGAGGTAGAAGATTTACACAG 0.433000 7 42 0 0 1 0 0 ARFIP2 23647 broad.mit.edu 37 11 6498959 6498959 + Nonsense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:6498959C>A ENST00000254584.2 - 7 942 c.859G>T c.(859-861)Gaa>Taa p.E287* ARFIP2_ENST00000396777.3_Nonsense_Mutation_p.E287*|ARFIP2_ENST00000423813.2_Nonsense_Mutation_p.E249*|ARFIP2_ENST00000445086.2_Nonsense_Mutation_p.E202* NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 287 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGTTTTCTTCCAGGAACTTG 0.547000 11 19 0.00400662 0.00415839 1 1 0 GYS1 2997 broad.mit.edu 37 19 49484799 49484799 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:49484799C>T ENST00000323798.3 - 8 1353 c.1157G>A c.(1156-1158)cGc>cAc p.R386H GYS1_ENST00000541188.1_Missense_Mutation_p.R306H|GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.R322H|GYS1_ENST00000544287.1_Missense_Mutation_p.R19H NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 386 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AAGCTGTTTGCGCACAGCTTG 0.567000 7 41 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33308254 33308254 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:33308254G>A ENST00000303296.4 + 2 599 c.294G>A c.(292-294)caG>caA p.Q98Q HIPK3_ENST00000456517.1_Silent_p.Q98Q|HIPK3_ENST00000525975.1_Silent_p.Q98Q|HIPK3_ENST00000379016.3_Silent_p.Q98Q NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 98 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TAGCAGCTCAGGCACAGCAAG 0.493000 4 68 0 0 1 0 0 FXN 2395 broad.mit.edu 37 9 71687607 71687607 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:71687607G>A ENST00000377270.3 + 5 1086 c.562G>A c.(562-564)Gca>Aca p.A188T FXN_ENST00000396366.2_Silent_p.P190P|FXN_ENST00000396364.3_Intron|FXN_ENST00000498653.1_Missense_Mutation_p.A113T NM_000144.4 NP_000135.2 Q16595 FRDA_HUMAN frataxin 188 cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion cytosol|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding large_intestine(1)|lung(1) 2 GCTGCTGGCCGCAGAGCTCAC 0.493000 8 68 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1379728 1379728 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:1379728G>A ENST00000389851.4 + 14 2556 c.2109G>A c.(2107-2109)caG>caA p.Q703Q UVSSA_ENST00000511216.1_Silent_p.Q703Q|UVSSA_ENST00000512728.1_Silent_p.Q254Q|UVSSA_ENST00000507531.1_Silent_p.Q703Q|UVSSA_ENST00000511563.1_Silent_p.Q254Q NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 703 TTTCAAACCAGTTTAACTACG 0.567000 5 27 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90438298 90438298 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:90438298C>T ENST00000394375.3 + 11 1200 c.1087C>T c.(1087-1089)Ctt>Ttt p.L363F LIPF_ENST00000238983.4_Missense_Mutation_p.L353F|LIPF_ENST00000355843.2_Missense_Mutation_p.L330F|LIPF_ENST00000608620.1_Missense_Mutation_p.L320F NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 353 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AGATGTTGGCCTTTTGCTTCC 0.463000 16 92 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41958128 41958128 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:41958128C>T ENST00000269095.4 - 10 1385 c.1081G>A c.(1081-1083)Gtg>Atg p.V361M MPP2_ENST00000520305.1_Missense_Mutation_p.V222M|MPP2_ENST00000461854.1_Missense_Mutation_p.V385M|MPP2_ENST00000377184.3_Missense_Mutation_p.V378M|MPP2_ENST00000536246.1_Missense_Mutation_p.V350M|MPP2_ENST00000523501.1_Missense_Mutation_p.V350M|MPP2_ENST00000518766.1_Missense_Mutation_p.V406M NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 385 signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CGCCGTCCCACGCCCTGAGCC 0.612000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 38 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29997772 29997772 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:29997772G>C ENST00000308893.4 + 16 3222 c.2179G>C c.(2179-2181)Gag>Cag p.E727Q TAOK2_ENST00000416441.2_Missense_Mutation_p.E554Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.E727Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.E727Q NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 727 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.E727*(2) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCGTGAGCAAGAGTTGCGGCA 0.677000 11 55 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586513 20586513 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:20586513T>C ENST00000315543.4 + 1 948 c.948T>C c.(946-948)atT>atC p.I316I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TGAATCCAATTATCTATACTC 0.353000 6 51 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160016602 160016602 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:160016602T>C ENST00000327245.5 - 24 4593 c.3747A>G c.(3745-3747)acA>acG p.T1249T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1249 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACTTACCCATGTCTTCATTT 0.438000 7 33 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123892070 123892070 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:123892070G>A ENST00000334268.4 - 2 547 c.230C>T c.(229-231)tCa>tTa p.S77L TRDN_ENST00000398178.3_Missense_Mutation_p.S77L|TRDN_ENST00000546248.1_Missense_Mutation_p.S77L|TRDN_ENST00000542443.1_Missense_Mutation_p.S77L Q13061 TRDN_HUMAN triadin 77 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) GAACTTACCTGAAAAGTTTTT 0.393000 6 45 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184626154 184626154 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:184626154C>A ENST00000334690.6 + 27 3188 c.2986C>A c.(2986-2988)Ccc>Acc p.P996T TRAPPC11_ENST00000357207.4_Missense_Mutation_p.P996T|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.P602T NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 996 GGAGAATATCCCCATCATCAC 0.388000 14 155 1.05317e-09 1.21044e-09 1 1 0 UBLCP1 134510 broad.mit.edu 37 5 158705319 158705319 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:158705319A>G ENST00000296786.6 + 9 1084 c.758A>G c.(757-759)gAc>gGc p.D253G NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 253 FCP1 homology. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGTTTGATGACATAGGGAGA 0.353000 14 72 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12726318 12726318 + Missense_Mutation SNP G G A rs139261871 by1000genomes TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:12726318G>A ENST00000376221.1 + 4 796 c.796G>A c.(796-798)Gcc>Acc p.A266T NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 266 integral to membrane carboxylesterase activity p.A266T(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) CTGGCGTGACGCCATCTTGAA 0.502000 24 95 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549577 102549577 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:102549577C>T ENST00000334701.7 - 10 2196 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E338K|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E517K NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 517 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TAGATCACTTCTAAGCCATGT 0.438000 10 92 0 0 1 0 0 OBFC1 79991 broad.mit.edu 37 10 105657467 105657467 + Missense_Mutation SNP C C T rs139991163 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:105657467C>T ENST00000224950.3 - 7 759 c.592G>A c.(592-594)Gcc>Acc p.A198T OBFC1_ENST00000369764.1_Missense_Mutation_p.A198T|OBFC1_ENST00000466828.1_5'UTR NM_024928.4 NP_079204.2 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold containing 1 198 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding large_intestine(3)|lung(7)|ovary(1)|pancreas(2) 13 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) AGGTCCAGGGCGCCTGGATTG 0.448000 6 62 0 0 1 0 0 CD244 51744 broad.mit.edu 37 1 160808287 160808287 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:160808287A>G ENST00000368034.4 - 5 965 c.788T>C c.(787-789)tTg>tCg p.L263S CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368033.3_Missense_Mutation_p.L268S|CD244_ENST00000322302.7_Missense_Mutation_p.L171S|CD244_ENST00000368032.2_Missense_Mutation_p.L263S NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 268 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTAAATTGTCAAAAATTCCTT 0.478000 22 85 0 0 1 0 0 RPA4 29935 broad.mit.edu 37 X 96139744 96139744 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:96139744T>C ENST00000373040.3 + 1 838 c.435T>C c.(433-435)atT>atC p.I145I DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 145 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 TATTGAAAATTCATGTCCTAG 0.448000 Other identified genes with known or suspected DNA repair function 11 37 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 712373 712373 + Missense_Mutation SNP C C T rs149011172 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:712373C>T ENST00000382303.1 + 7 2259 c.1607C>T c.(1606-1608)aCg>aTg p.T536M KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.T378M|KANK1_ENST00000382297.2_Missense_Mutation_p.T536M NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 536 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CTGGTGGACACGTGTGTTGGG 0.542000 15 46 0 0 1 0 0 CYB561D2 11068 broad.mit.edu 37 3 50390809 50390809 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:50390809C>G ENST00000418577.1 + 3 879 c.303C>G c.(301-303)ctC>ctG p.L101L CYB561D2_ENST00000424512.1_Silent_p.L101L|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000419046.1_3'UTR|CYB561D2_ENST00000232508.5_Silent_p.L101L|CYB561D2_ENST00000425346.1_Silent_p.L101L O14569 C56D2_HUMAN cytochrome b561 family, member D2 101 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCTGGGCCTCGGCCTTGTCA 0.652000 4 38 0 0 1 0 0 RNF44 22838 broad.mit.edu 37 5 175956034 175956034 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:175956034C>G ENST00000274811.4 - 11 1818 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q RNF44_ENST00000537487.1_Missense_Mutation_p.E351Q NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 432 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCCTCACTCAGCCTCCCTG 0.687000 3 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621091 179621091 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:179621091C>T ENST00000589042.1 - 46 11336 c.11112G>A c.(11110-11112)gaG>gaA p.E3704E TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Silent_p.E3533E|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3388 Ig-like 22. 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) GTTTCAGTCTCTCGGATTCCT 0.393000 14 51 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911930 100911930 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:100911930G>T ENST00000328766.5 - 5 1098 c.645C>A c.(643-645)acC>acA p.T215T ARMCX2_ENST00000330154.2_Silent_p.T215T|ARMCX2_ENST00000356824.4_Silent_p.T215T NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 215 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CAGCTGCCTCGGTAGGCGATG 0.647000 7 26 5.68852e-11 6.58216e-11 1 1 0 CREB5 9586 broad.mit.edu 37 7 28848874 28848874 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:28848874G>A ENST00000357727.2 + 9 1487 c.1097G>A c.(1096-1098)cGg>cAg p.R366Q CREB5_ENST00000396298.2_Missense_Mutation_p.R227Q|CREB5_ENST00000409603.1_Missense_Mutation_p.R333Q|CREB5_ENST00000396299.2_Missense_Mutation_p.R333Q|CREB5_ENST00000396300.2_Missense_Mutation_p.R359Q NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 366 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GGGGGGCGCCGGCGAAGGGTG 0.632000 11 53 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54967285 54967285 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:54967285G>T ENST00000326764.5 + 9 1644 c.1165G>T c.(1165-1167)Ggt>Tgt p.G389C LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 352 Ser-rich. protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CGGGGCTGGGGGTGCCGGTCG 0.687000 11 37 6.42651e-13 7.52506e-13 1 1 0 CYB561D2 11068 broad.mit.edu 37 3 50391055 50391055 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:50391055C>T ENST00000418577.1 + 3 1125 c.549C>T c.(547-549)ttC>ttT p.F183F CYB561D2_ENST00000424512.1_Silent_p.F183F|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000232508.5_Silent_p.F183F|CYB561D2_ENST00000425346.1_Silent_p.F183F O14569 C56D2_HUMAN cytochrome b561 family, member D2 183 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CACTCTGGTTCACTGCCTCTG 0.567000 33 127 0 0 1 0 0 MROH6 642475 broad.mit.edu 37 8 144654243 144654243 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:144654243G>A ENST00000398882.3 - 2 663 c.407C>T c.(406-408)tCc>tTc p.S136F NM_001100878.1 NP_001094348.1 maestro heat-like repeat family member 6 CAGGGCTGAGGACAGGGTGAG 0.657000 5 22 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34156814 34156814 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:34156814G>T ENST00000257829.3 + 19 2210 c.2004G>T c.(2002-2004)caG>caT p.Q668H NAT10_ENST00000531159.2_Missense_Mutation_p.Q596H|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 668 N-acetyltransferase. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) AGACACCACAGGAAATTCACA 0.512000 9 78 2.74318e-10 3.16877e-10 1 1 0 RAG1 5896 broad.mit.edu 37 11 36597335 36597335 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:36597335G>T ENST00000299440.5 + 2 2593 c.2481G>T c.(2479-2481)gaG>gaT p.E827D NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 827 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CTTCCAAAGAGGAAAGGAAAA 0.468000 Familial Hemophagocytic Lymphohistiocytosis 10 42 4.68919e-08 5.34458e-08 1 1 0 CACNG4 27092 broad.mit.edu 37 17 65021114 65021114 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:65021114C>T ENST00000262138.3 + 3 445 c.443C>T c.(442-444)gCa>gTa p.A148V NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 148 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TTCGTGGCTGCAGGTGAGCCG 0.657000 5 37 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6966191 6966191 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:6966191G>T ENST00000389658.3 - 49 7098 c.7005C>A c.(7003-7005)acC>acA p.T2335T NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2335 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGGTGAAAAGGTATTAAAAA 0.463000 6 18 0.0293803 0.0298156 1 1 0 CIRH1A 84916 broad.mit.edu 37 16 69167477 69167477 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:69167477A>G ENST00000563094.1 + 2 149 c.115A>G c.(115-117)Act>Gct p.T39A CIRH1A_ENST00000352319.4_Missense_Mutation_p.T39A|CIRH1A_ENST00000314423.7_Missense_Mutation_p.T39A Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 39 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) AACAGATGGCACTGTGGAAAT 0.388000 8 93 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 112025286 112025286 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:112025286C>T ENST00000354650.3 - 7 1069 c.463G>A c.(463-465)Ggc>Agc p.G155S FYN_ENST00000229471.4_Missense_Mutation_p.G155S|FYN_ENST00000368678.4_Missense_Mutation_p.G155S|FYN_ENST00000368682.3_Missense_Mutation_p.G155S|FYN_ENST00000356013.2_Missense_Mutation_p.G155S|FYN_ENST00000229470.5_Missense_Mutation_p.G106S|FYN_ENST00000368667.2_Missense_Mutation_p.G155S|FYN_ENST00000538466.1_Missense_Mutation_p.G155S|FYN_ENST00000476769.2_5'UTR NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 155 SH2. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TCTTTTCGGCCAAGTTTTCCA 0.383000 13 71 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145568068 145568068 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:145568068C>T ENST00000296575.3 + 1 896 c.241C>T c.(241-243)Cgg>Tgg p.R81W HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R81W NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 81 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CTGCTGCCTGCGGAGTGACAG 0.617000 5 56 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538475 4538475 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:4538475T>C ENST00000306390.6 - 2 981 c.521A>G c.(520-522)aAc>aGc p.N174S CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 174 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGAGGCGGTTCCCAGACAG 0.617000 6 120 0 0 1 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839278 100839278 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:100839278C>T ENST00000379423.3 - 6 832 c.772G>A c.(772-774)Gca>Aca p.A258T MOGAT3_ENST00000223114.4_Silent_p.E325E|MOGAT3_ENST00000440203.2_3'UTR Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 0 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) TTTCCTTGTGCTCCTCGAAGA 0.657000 11 36 0 0 1 0 0 AREL1 9870 broad.mit.edu 37 14 75130444 75130444 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:75130444G>A ENST00000356357.4 - 20 2966 c.2451C>T c.(2449-2451)tgC>tgT p.C817C AREL1_ENST00000557401.1_Intron NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 CAAAGCCCTCGCAACCCTCGC 0.542000 14 96 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3116332 3116332 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:3116332C>T ENST00000356443.4 - 21 3633 c.3300G>A c.(3298-3300)ctG>ctA p.L1100L MYOM1_ENST00000261606.7_Silent_p.L1004L|MYOM1_ENST00000400569.3_Silent_p.L1100L NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1100 Fibronectin type-III 5. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTCTTACCTTCAGGTATACGT 0.458000 3 18 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227933 28227933 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:28227933G>C ENST00000343684.3 + 1 836 c.784G>C c.(784-786)Gaa>Caa p.E262Q NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 262 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GGACTTGTCAGAAGCTACCTG 0.368000 6 19 0 0 1 0 0 FAM122A 116224 broad.mit.edu 37 9 71395699 71395699 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:71395699G>A ENST00000394264.3 + 1 736 c.619G>A c.(619-621)Gaa>Aaa p.E207K PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron NM_138333.3 NP_612206.3 Q96E09 F122A_HUMAN family with sequence similarity 122A 207 endometrium(1)|lung(2) 3 AAGAAAATGTGAAATGGAAAC 0.468000 19 85 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170108923 170108923 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:170108923C>G ENST00000458537.3 + 5 2480 c.1771C>G c.(1771-1773)Caa>Gaa p.Q591E SKIL_ENST00000259119.4_Missense_Mutation_p.Q591E|SKIL_ENST00000426052.2_Missense_Mutation_p.Q571E|SKIL_ENST00000413427.2_Missense_Mutation_p.Q545E NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 591 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TGAACATGCTCAAAGAATGGA 0.323000 6 42 0 0 1 0 0 CPNE1 8904 broad.mit.edu 37 20 34219050 34219050 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:34219050G>A ENST00000317619.3 - 12 1241 c.847C>T c.(847-849)Cag>Tag p.Q283* CPNE1_ENST00000397446.1_Nonsense_Mutation_p.Q283*|CPNE1_ENST00000352393.4_Nonsense_Mutation_p.Q283*|CPNE1_ENST00000317677.5_Nonsense_Mutation_p.Q288*|CPNE1_ENST00000397443.1_Nonsense_Mutation_p.Q283*|CPNE1_ENST00000397445.1_Nonsense_Mutation_p.Q283*|CPNE1_ENST00000397442.1_Nonsense_Mutation_p.Q283* Q99829 CPNE1_HUMAN copine I 283 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) AAGTTGATCTGACAGCCTCCC 0.527000 20 125 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27324745 27324745 + Splice_Site SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:27324745C>T ENST00000407991.1 - 5 1058 c.e5+1 CHRNA2_ENST00000240132.2_Splice_Site|CHRNA2_ENST00000520933.2_Splice_Site NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) TGGCTTCCTACTTGTTGTAGA 0.587000 4 34 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10447205 10447205 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:10447205T>A ENST00000326756.3 - 3 1186 c.748A>T c.(748-750)Act>Tct p.T250S NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGAAATGTAGTCCGTGGATTG 0.428000 8 132 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79732690 79732690 + Silent SNP C C T rs144412842 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:79732690C>T ENST00000338008.5 + 3 366 c.186C>T c.(184-186)tgC>tgT p.C62C ZFYVE16_ENST00000510158.1_Silent_p.C62C|ZFYVE16_ENST00000505560.1_Silent_p.C62C NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 62 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) ACCAAGAGTGCGTTAATAGTT 0.388000 6 58 0 0 1 0 0 CHMP1B 57132 broad.mit.edu 37 18 11851857 11851857 + Missense_Mutation SNP A A T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:11851857A>T ENST00000526991.2 + 1 463 c.347A>T c.(346-348)gAc>gTc p.D116V GNAL_ENST00000269162.5_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA NM_020412.4 NP_065145.2 Q7LBR1 CHM1B_HUMAN charged multivesicular body protein 1B 116 cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|lung(1)|urinary_tract(1) 3 GCTTTGATGGACAAATTCGAG 0.517000 21 104 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86389171 86389171 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:86389171C>T ENST00000410111.3 - 8 1211 c.824G>A c.(823-825)cGc>cAc p.R275H IMMT_ENST00000449247.2_Missense_Mutation_p.R264H|IMMT_ENST00000442664.2_Missense_Mutation_p.R274H|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000254636.5_Missense_Mutation_p.R176H|IMMT_ENST00000409051.2_Missense_Mutation_p.R228H NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 275 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTCCACTGTGCGCCACTGAGC 0.388000 4 4 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941425 144941425 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:144941425C>T ENST00000525985.1 - 2 6068 c.5997G>A c.(5995-5997)gaG>gaA p.E1999E P58107 EPIPL_HUMAN epiplakin 1 1999 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTCCGCCTTCTCGATGAGCT 0.637000 6 31 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9964871 9964871 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:9964871C>A ENST00000264833.4 - 6 1541 c.1356G>T c.(1354-1356)ggG>ggT p.G452G OLFM2_ENST00000590841.1_Silent_p.G374G NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 452 extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CTCAGGGGTCCCCAGAGGTGC 0.622000 11 35 0.000673444 0.000707529 1 1 0 RERE 473 broad.mit.edu 37 1 8420263 8420263 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:8420263C>G ENST00000337907.3 - 19 3938 c.3304G>C c.(3304-3306)Gag>Cag p.E1102Q RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.E834Q|RERE_ENST00000476556.1_Missense_Mutation_p.E548Q|RERE_ENST00000400908.2_Missense_Mutation_p.E1102Q NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1102 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TCAGGCTCCTCAGCGTCGTCC 0.687000 4 4 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41988414 41988414 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:41988414G>A ENST00000219905.7 + 3 1387 c.1206G>A c.(1204-1206)gtG>gtA p.V402V MGA_ENST00000570161.1_Silent_p.V402V|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Silent_p.V402V|MGA_ENST00000389936.4_Silent_p.V402V|MGA_ENST00000566586.1_Silent_p.V402V NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 402 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGGTCACTGTGAAACAGGAAG 0.423000 8 48 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44611954 44611954 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:44611954G>C ENST00000336976.6 + 6 1895 c.1641G>C c.(1639-1641)aaG>aaC p.K547N AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 547 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) AATGTGGGAAGAGTTTTGGCT 0.418000 11 62 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119912262 119912262 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:119912262C>G ENST00000464295.1 - 4 688 c.243G>C c.(241-243)aaG>aaC p.K81N GPR156_ENST00000315843.3_Missense_Mutation_p.K81N|GPR156_ENST00000461057.1_Missense_Mutation_p.K81N Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 81 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GACTGGACATCTTCACAATCC 0.483000 3 44 0 0 1 0 0 TLX2 3196 broad.mit.edu 37 2 74742049 74742049 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:74742049G>A ENST00000233638.7 + 1 439 c.116G>A c.(115-117)cGc>cAc p.R39H TLX2_ENST00000497238.1_Intron NM_016170.4 NP_057254.1 O43763 TLX2_HUMAN T-cell leukemia homeobox 2 39 Gly-rich. LGRGGQGHGENG -> WVAGQVIGEWA (in Ref. 2; CAA05636). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|ovary(1) 2 GGCCTGGGTCGCGGGGGCCAG 0.692000 3 14 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63030528 63030528 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:63030528A>G ENST00000561311.1 + 29 3913 c.3683A>G c.(3682-3684)gAt>gGt p.D1228G TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.D1228G Q9Y4G6 TLN2_HUMAN talin 2 1228 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTGCTTGTGGATTCGGTGAGA 0.517000 14 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020804 9020804 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:9020804A>G ENST00000397910.4 - 20 37501 c.37298T>C c.(37297-37299)gTt>gCt p.V12433A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12435 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CAGAGGGCCAACACTGGTGTT 0.547000 28 95 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643193 156643193 + Nonsense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:156643193C>T ENST00000296518.7 + 9 1929 c.1720C>T c.(1720-1722)Cga>Tga p.R574* GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.R316*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.R574*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.R574* Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 574 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CTTTCAGATGCGAATTGGACT 0.398000 34 283 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176722266 176722266 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:176722266C>T ENST00000439151.2 + 23 7942 c.7897C>T c.(7897-7899)Cgg>Tgg p.R2633W NSD1_ENST00000347982.4_Missense_Mutation_p.R2364W|NSD1_ENST00000354179.4_Missense_Mutation_p.R2364W|NSD1_ENST00000361032.4_Missense_Mutation_p.R2530W NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2633 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGCCTCATCACGGGCAGGGCT 0.577000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 6 50 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185550579 185550579 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:185550579G>T ENST00000308394.4 - 8 943 c.681C>A c.(679-681)gcC>gcA p.A227A CASP3_ENST00000393588.4_3'UTR|CASP3_ENST00000523916.1_Silent_p.A227A|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 227 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) CAAGCTTGTCGGCATACTGTT 0.413000 12 70 2.27111e-07 2.55873e-07 1 1 0 LRFN3 79414 broad.mit.edu 37 19 36430655 36430655 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:36430655C>T ENST00000588831.1 + 3 1382 c.328C>T c.(328-330)Cgt>Tgt p.R110C LRFN3_ENST00000246529.3_Missense_Mutation_p.R110C Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 110 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCGGGCCCTGCGTGCCCTGCA 0.687000 8 36 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13279672 13279672 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:13279672A>G ENST00000262487.4 + 6 967 c.961A>G c.(961-963)Agc>Ggc p.S321G TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 TGACCTGCCCAGCTGCCCCTG 0.577000 3 28 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74365248 74365248 + Silent SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:74365248G>C ENST00000377044.4 - 2 581 c.42C>G c.(40-42)ctC>ctG p.L14L TMEM2_ENST00000377066.5_Silent_p.L14L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 14 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TCTGAGGTTGGAGGAAAGCAG 0.453000 7 42 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67914112 67914112 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:67914112C>T ENST00000358933.5 + 17 2329 c.2090C>T c.(2089-2091)cCg>cTg p.P697L NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 697 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCCAAGGGGCCGGGCCAGGTG 0.667000 5 45 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2616573 2616573 + Nonstop_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:2616573A>G ENST00000261597.4 + 17 2111 c.1929A>G c.(1927-1929)tgA>tgG p.*643W NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 0 attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 CTGAAGAATGAAGATAAAATG 0.284000 4 41 0 0 1 0 0 PREPL 9581 broad.mit.edu 37 2 44559681 44559681 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:44559681C>T ENST00000541738.1 - 8 1389 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K PREPL_ENST00000410081.1_Missense_Mutation_p.E424K|PREPL_ENST00000409411.1_Missense_Mutation_p.E335K|PREPL_ENST00000260648.6_Missense_Mutation_p.E424K|PREPL_ENST00000409957.1_Missense_Mutation_p.E335K|PREPL_ENST00000409272.1_Missense_Mutation_p.E424K|PREPL_ENST00000378520.3_Intron|PREPL_ENST00000378511.3_Missense_Mutation_p.E362K|PREPL_ENST00000409936.1_Missense_Mutation_p.E424K NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 424 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGTTTGCCTTCTGCAAACTTG 0.413000 12 73 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239281 5239281 + Missense_Mutation SNP T T A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:5239281T>A ENST00000274181.7 + 15 2310 c.2172T>A c.(2170-2172)aaT>aaA p.N724K ADAMTS16_ENST00000513709.1_3'UTR NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 724 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GATGTGACAATGTCCTTGGAT 0.488000 29 192 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219350409 219350409 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:219350409G>A ENST00000258399.3 - 16 2060 c.1648C>T c.(1648-1650)Cac>Tac p.H550Y USP37_ENST00000418019.1_Missense_Mutation_p.H550Y|USP37_ENST00000454775.1_Missense_Mutation_p.H550Y|USP37_ENST00000415516.1_Missense_Mutation_p.H478Y|USP37_ENST00000475553.1_5'UTR NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 550 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TTAAATTTGTGCCTGACAAGA 0.338000 14 71 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86123700 86123700 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:86123700G>A ENST00000394518.2 + 7 2496 c.2401G>A c.(2401-2403)Gca>Aca p.A801T AKAP13_ENST00000361243.2_Missense_Mutation_p.A801T NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 801 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.A801T(1) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CAAGGATGACGCACTTTCTTT 0.443000 32 117 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125575163 125575163 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:125575163A>G ENST00000518547.1 - 10 1368 c.895T>C c.(895-897)Tac>Cac p.Y299H NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Missense_Mutation_p.Y303H|MTSS1_ENST00000524090.1_Missense_Mutation_p.Y189H|MTSS1_ENST00000354184.4_Missense_Mutation_p.Y99H|MTSS1_ENST00000431961.2_Missense_Mutation_p.Y99H|MTSS1_ENST00000378017.3_Missense_Mutation_p.Y299H|MTSS1_ENST00000395508.2_Missense_Mutation_p.Y33H|MTSS1_ENST00000523587.1_5'UTR NM_001282971.1|NM_014751.4 NP_001269900.1|NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 299 Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CGGTAGCGGTAATGTGAGCTG 0.617000 5 21 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33545228 33545228 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:33545228C>G ENST00000242067.6 + 20 2790 c.2269C>G c.(2269-2271)Ctg>Gtg p.L757V BBS9_ENST00000396127.2_Missense_Mutation_p.L722V|BBS9_ENST00000350941.3_Missense_Mutation_p.L717V|BBS9_ENST00000355070.2_Missense_Mutation_p.L752V|BBS9_ENST00000354265.4_Missense_Mutation_p.L722V NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 757 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.L757L(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AGCGGCATTTCTGCCGCTACA 0.488000 Bardet-Biedl syndrome 11 32 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69253281 69253281 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:69253281G>A ENST00000374552.4 + 7 1069 c.827G>A c.(826-828)cGc>cAc p.R276H EDA_ENST00000524573.1_Missense_Mutation_p.R273H|EDA_ENST00000374553.2_Missense_Mutation_p.R276H NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 276 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 GACTGGTCTCGCATCACTATG 0.483000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 56 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790464 4790464 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:4790464G>A ENST00000380383.1 - 1 704 c.705C>T c.(703-705)ctC>ctT p.L235L OR51F1_ENST00000343430.3_Silent_p.L228L|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 228 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AGGCAATTCTGAGGACAGAGT 0.458000 4 74 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 122995696 122995696 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:122995696C>G ENST00000331738.7 - 7 910 c.765G>C c.(763-765)aaG>aaC p.K255N RSRC2_ENST00000354654.2_Missense_Mutation_p.K207N|RSRC2_ENST00000392442.2_5'UTR NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 255 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CAACCATTTCCTTTTCTCGCT 0.279000 7 35 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129921190 129921190 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:129921190C>T ENST00000368654.3 - 4 617 c.242G>A c.(241-243)cGg>cAg p.R81Q MKI67_ENST00000368653.3_Missense_Mutation_p.R81Q NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 81 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ATGTTTTAGCCGTACAGGCTC 0.348000 7 54 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70190472 70190472 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:70190472C>G ENST00000288050.4 + 19 3287 c.2330C>G c.(2329-2331)tCa>tGa p.S777* PDPR_ENST00000567046.1_Nonsense_Mutation_p.S135*|PDPR_ENST00000542659.1_Nonsense_Mutation_p.S122*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.S777*|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000398122.3_Nonsense_Mutation_p.S677*|PDPR_ENST00000562100.1_3'UTR NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 777 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) GACCATGATTCAGACCTAGAC 0.547000 69 119 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35584003 35584003 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:35584003G>A ENST00000287272.2 + 9 1450 c.1430G>A c.(1429-1431)gGt>gAt p.G477D UNC5D_ENST00000453357.2_Missense_Mutation_p.G541D|UNC5D_ENST00000420357.1_Missense_Mutation_p.G479D|UNC5D_ENST00000416672.1_Missense_Mutation_p.G551D|UNC5D_ENST00000449677.1_Missense_Mutation_p.G122D|UNC5D_ENST00000404895.2_Missense_Mutation_p.G546D Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 546 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGGACAACTGGTGTCTTTGGC 0.418000 7 130 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39969396 39969396 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:39969396C>T ENST00000321562.4 + 1 214 c.110C>T c.(109-111)gCc>gTc p.A37V NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 37 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) gccagcccggccgggggcccc 0.701000 12 34 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90333727 90333727 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:90333727C>G ENST00000300060.6 - 20 3028 c.2715G>C c.(2713-2715)gtG>gtC p.V905V NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 905 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) ATCGTCGTGTCACTGCCTGGA 0.577000 4 37 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418737 105418737 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:105418737G>T ENST00000333244.5 - 7 3170 c.3051C>A c.(3049-3051)atC>atA p.I1017I AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1017 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCAAGGCCTTGATGGACTTCC 0.587000 9 319 3.86212e-05 4.15967e-05 1 1 0 JAK1 3716 broad.mit.edu 37 1 65301159 65301159 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:65301159C>A ENST00000342505.4 - 24 3537 c.3289G>T c.(3289-3291)Ggc>Tgc p.G1097C NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 1097 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GTCATCTGGCCATGGGTTGGG 0.403000 Mis ALL 19 85 4.63292e-17 5.50964e-17 1 1 0 BCR 613 broad.mit.edu 37 22 23524036 23524036 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:23524036C>A ENST00000305877.8 + 1 1640 c.889C>A c.(889-891)Ctg>Atg p.L297M BCR_ENST00000398512.5_Missense_Mutation_p.L297M|BCR_ENST00000359540.3_Missense_Mutation_p.L297M NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 297 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GGGCCCGCTCCTGCGCAGCCA 0.667000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 4 27 0.184627 0.185168 1 1 0 MGA 23269 broad.mit.edu 37 15 41988400 41988400 + Nonsense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:41988400G>T ENST00000219905.7 + 3 1373 c.1192G>T c.(1192-1194)Gaa>Taa p.E398* MGA_ENST00000570161.1_Nonsense_Mutation_p.E398*|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Nonsense_Mutation_p.E398*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E398*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E398* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 398 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGAGTGCCCAGAAGGGGTCAC 0.443000 7 51 0.0477658 0.0482589 1 1 0 DYSF 8291 broad.mit.edu 37 2 71801376 71801376 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:71801376T>C ENST00000258104.3 + 30 3500 c.3223T>C c.(3223-3225)Ttt>Ctt p.F1075L DYSF_ENST00000409366.1_Missense_Mutation_p.F1076L|DYSF_ENST00000409744.1_Missense_Mutation_p.F1062L|DYSF_ENST00000429174.2_Missense_Mutation_p.F1075L|DYSF_ENST00000394120.2_Missense_Mutation_p.F1076L|DYSF_ENST00000410020.3_Missense_Mutation_p.F1093L|DYSF_ENST00000413539.2_Missense_Mutation_p.F1106L|DYSF_ENST00000409651.1_Missense_Mutation_p.F1107L|DYSF_ENST00000410041.1_Missense_Mutation_p.F1093L|DYSF_ENST00000409582.3_Missense_Mutation_p.F1092L|DYSF_ENST00000409762.1_Missense_Mutation_p.F1092L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1075 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CGCCTCTCTTTTTGGCTGGAA 0.672000 24 107 0 0 1 0 0 ARMC8 25852 broad.mit.edu 37 3 137956206 137956206 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:137956206T>C ENST00000469044.1 + 8 936 c.665T>C c.(664-666)gTa>gCa p.V222A ARMC8_ENST00000358441.2_Missense_Mutation_p.V208A|ARMC8_ENST00000393058.3_Missense_Mutation_p.V212A|ARMC8_ENST00000489213.1_Missense_Mutation_p.V180A|ARMC8_ENST00000481646.1_Missense_Mutation_p.V208A|ARMC8_ENST00000491704.1_Missense_Mutation_p.V180A|ARMC8_ENST00000538260.1_Missense_Mutation_p.V191A|ARMC8_ENST00000471453.1_Missense_Mutation_p.V208A|ARMC8_ENST00000470821.1_Missense_Mutation_p.V222A|ARMC8_ENST00000485396.1_Missense_Mutation_p.V149A|ARMC8_ENST00000461822.1_Missense_Mutation_p.V222A NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 222 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 AACCCCCAGGTATCGATGACC 0.338000 6 100 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30358185 30358185 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:30358185G>C ENST00000340513.4 + 6 924 c.396G>C c.(394-396)caG>caC p.Q132H TPX2_ENST00000300403.6_Missense_Mutation_p.Q132H Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 132 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATTTGGAACAGAAAGAAAAGC 0.333000 15 31 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110383093 110383093 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:110383093G>T ENST00000360185.4 - 15 1717 c.1553C>A c.(1552-1554)tCc>tAc p.S518Y GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron NM_014776.3 NP_055591.2 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 568 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 CCTCGACCAGGAAAGTGTGGA 0.547000 4 30 0.014758 0.0150884 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 3 59 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579325 7579325 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:7579325G>T ENST00000420246.2 - 4 494 c.362C>A c.(361-363)tCt>tAt p.S121Y TP53_ENST00000413465.2_Missense_Mutation_p.S121Y|TP53_ENST00000269305.4_Missense_Mutation_p.S121Y|TP53_ENST00000445888.2_Missense_Mutation_p.S121Y|TP53_ENST00000455263.2_Missense_Mutation_p.S121Y|TP53_ENST00000359597.4_Missense_Mutation_p.S121Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 121 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAAGTCACAGACTTGGCTGT 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 36 3.57192e-18 4.25525e-18 1 1 0 GRIA2 2891 broad.mit.edu 37 4 158281151 158281151 + Missense_Mutation SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:158281151A>C ENST00000296526.7 + 13 2472 c.2147A>C c.(2146-2148)aAg>aCg p.K716T GRIA2_ENST00000507898.1_Missense_Mutation_p.K669T|GRIA2_ENST00000264426.9_Missense_Mutation_p.K716T|GRIA2_ENST00000449365.1_Missense_Mutation_p.K669T|GRIA2_ENST00000393815.2_Missense_Mutation_p.K669T NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 716 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGAGTGCGGAAGTCCAAAGGG 0.493000 4 47 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32878392 32878392 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:32878392G>A ENST00000538132.1 - 7 1121 c.735C>T c.(733-735)gtC>gtT p.V245V AHCY_ENST00000217426.2_Silent_p.V273V NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 273 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTGTGGTGGTGACAAAGATGT 0.597000 6 136 0 0 1 0 0 TFEB 7942 broad.mit.edu 37 6 41652546 41652546 + Missense_Mutation SNP C C T rs148691652 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:41652546C>T ENST00000230323.4 - 10 1523 c.1222G>A c.(1222-1224)Gag>Aag p.E408K TFEB_ENST00000403298.4_Missense_Mutation_p.E408K|TFEB_ENST00000358871.2_Missense_Mutation_p.E422K|TFEB_ENST00000373033.1_Missense_Mutation_p.E408K|TFEB_ENST00000420312.1_Missense_Mutation_p.E323K NM_001271945.1|NM_007162.2 NP_001258874.1|NP_009093.1 P19484 TFEB_HUMAN transcription factor EB 408 Pro-rich. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGGGACCCTCGTCCTCCCTG 0.682000 T ALPHA renal (childhood epithelioid) 8 25 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172283 207172283 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:207172283G>A ENST00000374423.3 + 5 3417 c.3031G>A c.(3031-3033)Gta>Ata p.V1011I NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1011 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCATTATTCAGTAACTGAACC 0.338000 8 39 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77745833 77745833 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:77745833T>C ENST00000409088.3 - 3 1576 c.1162A>G c.(1162-1164)Acc>Gcc p.T388A LRRTM4_ENST00000409884.1_Missense_Mutation_p.T388A|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T389A|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T389A|LRRTM4_ENST00000409093.1_Missense_Mutation_p.T388A NM_001282928.1|NM_024993.4 NP_001269857.1|NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 388 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TTGAAGATGGTAGGTCTAGGG 0.483000 4 44 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44108963 44108963 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:44108963C>T ENST00000262419.6 - 15 3667 c.3197G>A c.(3196-3198)cGc>cAc p.R1066H KANSL1_ENST00000572904.1_Missense_Mutation_p.R1066H|KANSL1_ENST00000574590.1_Missense_Mutation_p.R1066H|KANSL1_ENST00000432791.1_Missense_Mutation_p.R1066H|KANSL1_ENST00000393476.3_Missense_Mutation_p.R360H|KANSL1_ENST00000575318.1_Missense_Mutation_p.R1002H NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 1066 MLL1 complex protein binding p.R1066L(1) GCCTGAGGTGCGTCGAGTGCA 0.687000 4 28 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19175909 19175909 + Missense_Mutation SNP C C T rs143077243 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:19175909C>T ENST00000375371.3 - 4 1414 c.1393G>A c.(1393-1395)Gtc>Atc p.V465I RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 465 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TAGGAGGCGACGCTCTGGAAG 0.602000 7 34 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105441885 105441885 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:105441885C>A ENST00000351513.2 - 5 970 c.838G>T c.(838-840)Gat>Tat p.D280Y NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 280 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGAGTGCCATCTGTGCCAAGA 0.468000 7 85 2.0095e-06 2.22736e-06 1 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65372200 65372200 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:65372200C>T ENST00000284037.5 + 24 4409 c.4020C>T c.(4018-4020)gtC>gtT p.V1340V ERBB2IP_ENST00000380939.2_Silent_p.V1288V|ERBB2IP_ENST00000380935.1_Silent_p.V1230V|ERBB2IP_ENST00000416865.2_Silent_p.V538V|ERBB2IP_ENST00000380936.1_Intron|ERBB2IP_ENST00000380938.2_Silent_p.V1299V|ERBB2IP_ENST00000508515.1_Silent_p.V1230V|ERBB2IP_ENST00000506030.1_Silent_p.V1347V|ERBB2IP_ENST00000380943.2_Silent_p.V1299V|ERBB2IP_ENST00000503913.1_3'UTR|ERBB2IP_ENST00000511297.1_Silent_p.V1295V NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1340 PDZ. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CAGGTGGTGTCGGGGGTAGAG 0.338000 3 71 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37099048 37099048 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:37099048C>T ENST00000378079.2 - 9 1265 c.1066G>A c.(1066-1068)Gta>Ata p.V356I NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 356 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 AAAAAGACTACGAGCCTTGCC 0.403000 8 60 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5951128 5951128 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:5951128A>G ENST00000379999.5 + 6 1148 c.1044A>G c.(1042-1044)acA>acG p.T348T FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Silent_p.T297T|FBXO18_ENST00000397269.3_5'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 297 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 ACAGATACACAGCCACCACTA 0.562000 14 42 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586533 20586533 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:20586533A>G ENST00000315543.4 + 1 968 c.968A>G c.(967-969)aAa>aGa p.K323R NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGAGAAACAAAGAAATGAAG 0.378000 5 50 0 0 1 0 0 EFR3A 23167 broad.mit.edu 37 8 132991142 132991142 + Missense_Mutation SNP T T G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:132991142T>G ENST00000254624.5 + 13 1600 c.1375T>G c.(1375-1377)Tct>Gct p.S459A EFR3A_ENST00000519656.1_Missense_Mutation_p.S423A|EFR3A_ENST00000334503.4_Missense_Mutation_p.S459A NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 459 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ACTGCCAGGGTCTTTCCTGGA 0.418000 9 53 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74897807 74897807 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:74897807G>C ENST00000372979.4 - 12 1649 c.1443C>G c.(1441-1443)atC>atG p.I481M ECD_ENST00000454759.2_Missense_Mutation_p.I438M|ECD_ENST00000430082.2_Missense_Mutation_p.I514M NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 481 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) CATCAAAAGTGATTGGAGCCT 0.313000 7 28 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49489125 49489125 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:49489125G>C ENST00000323798.3 - 4 856 c.660C>G c.(658-660)ttC>ttG p.F220L GYS1_ENST00000541188.1_Missense_Mutation_p.F140L|GYS1_ENST00000540532.1_Missense_Mutation_p.F140L|GYS1_ENST00000263276.6_Missense_Mutation_p.F156L|GYS1_ENST00000544287.1_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 220 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GGTTGTTGTAGAAGTCCACGG 0.632000 7 42 0 0 1 0 0 PLA2G4B 100137049 broad.mit.edu 37 15 42136730 42136730 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:42136730G>T ENST00000542534.2 + 17 1674 c.1634G>T c.(1633-1635)gGg>gTg p.G545V PLA2G4B_ENST00000452633.1_Missense_Mutation_p.G314V|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.G545V|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G314V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G545V NM_005090.3 NP_005081.1 phospholipase A2, group IVB (cytosolic) all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371) TCCCTGTATGGGCAGCTGGCT 0.617000 23 103 2.89027e-11 3.35565e-11 1 1 0 SEC14L2 23541 broad.mit.edu 37 22 30803541 30803541 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:30803541G>A ENST00000312932.9 + 5 632 c.372G>A c.(370-372)aaG>aaA p.K124K SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000405717.3_Silent_p.K124K|SEC14L2_ENST00000403484.1_Silent_p.K50K|SEC14L2_ENST00000459728.1_3'UTR NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 124 CRAL-TRIO. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) TGAGGACCAAGATGCGGGAGT 0.547000 6 50 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209165 140209165 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:140209165C>T ENST00000529310.1 + 1 1603 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.2|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGGAGCGGCGGGTGGG 0.672000 13 80 0 0 1 0 0 PAQR4 124222 broad.mit.edu 37 16 3021896 3021896 + Missense_Mutation SNP G G A rs142699591 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:3021896G>A ENST00000318782.8 + 3 1199 c.769G>A c.(769-771)Ggc>Agc p.G257S PAQR4_ENST00000293978.8_Missense_Mutation_p.G218S|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Missense_Mutation_p.G190S|PAQR4_ENST00000574988.1_Missense_Mutation_p.G190S|PAQR4_ENST00000572687.1_Missense_Mutation_p.G183S NM_001284513.1|NM_152341.3 NP_001271442.1|NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 257 integral to membrane receptor activity p.G257L(1) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 GCTGCACGCCGGCGTCGTGCC 0.672000 5 28 0 0 1 0 0 SMR3B 10879 broad.mit.edu 37 4 71255388 71255388 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:71255388G>C ENST00000304915.3 + 3 212 c.63G>C c.(61-63)gaG>gaC p.E21D SMR3B_ENST00000504825.1_Missense_Mutation_p.E21D NM_006685.3 NP_006676.1 submaxillary gland androgen regulated protein 3B large_intestine(2)|lung(3)|skin(2) 7 all_hematologic(202;0.196) AGCCTGGTGAGAGTCAAAGAG 0.468000 3 69 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894478 123894478 + Silent SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:123894478C>A ENST00000375024.1 + 1 759 c.759C>A c.(757-759)ccC>ccA p.P253P NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTTTTGTTCCCTGTGTTTTCA 0.537000 18 121 2.98393e-07 3.35631e-07 1 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177637 89177637 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:89177637G>A ENST00000561129.2 + 1 683 c.553G>A c.(553-555)Gga>Aga p.G185R TGIF2LX_ENST00000283891.5_Missense_Mutation_p.G185R Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 185 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 GAAGCTCACCGGAATAGCCCA 0.557000 6 15 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9406292 9406292 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:9406292G>C ENST00000591998.1 - 6 2016 c.1788C>G c.(1786-1788)ttC>ttG p.F596L ZNF699_ENST00000308650.3_Missense_Mutation_p.F596L Q32M78 ZN699_HUMAN zinc finger protein 699 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGGACAACTGAAAGCTTTTC 0.438000 14 58 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168067275 168067275 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:168067275G>A ENST00000409195.1 + 4 682 c.593G>A c.(592-594)gGa>gAa p.G198E XIRP2_ENST00000295237.9_Missense_Mutation_p.G198E|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.G198E|XIRP2_ENST00000409043.1_Missense_Mutation_p.G198E|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409728.1_Missense_Mutation_p.G231E|XIRP2_ENST00000420519.1_Missense_Mutation_p.G231E NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 23 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCTGAGAGTGGATTTGCAGAA 0.512000 29 135 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107355883 107355883 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:107355883G>C ENST00000265715.3 + 21 2559 c.2335G>C c.(2335-2337)Gca>Cca p.A779P SLC26A4_ENST00000541474.1_Missense_Mutation_p.A340P|SLC26A4_ENST00000543100.1_Missense_Mutation_p.A348P|SLC26A4_ENST00000544569.1_Missense_Mutation_p.A366P NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 779 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GCGTACACTTGCATCCTGAAA 0.373000 Pendred syndrome 14 94 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113506789 113506789 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:113506789C>G ENST00000505019.1 - 14 4134 c.4009G>C c.(4009-4011)Gag>Cag p.E1337Q NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTCAGTTTCTCTCCCTTCAAT 0.343000 3 34 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102446263 102446263 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:102446263T>C ENST00000360184.4 + 4 890 c.726T>C c.(724-726)ctT>ctC p.L242L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 242 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CAACATTTCTTAATCAGTTAC 0.348000 4 101 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47977622 47977622 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:47977622G>C ENST00000318711.7 + 31 3940 c.3757G>C c.(3757-3759)Gag>Cag p.E1253Q DIP2A_ENST00000400274.1_Missense_Mutation_p.E1248Q|DIP2A_ENST00000417564.2_Missense_Mutation_p.E1252Q NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1252 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTCTGTGATGGAGATGTGCAC 0.642000 7 36 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104079654 104079654 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:104079654G>A ENST00000374874.3 + 7 1260 c.821G>A c.(820-822)tGt>tAt p.C274Y LPPR1_ENST00000395056.2_Missense_Mutation_p.C274Y NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 274 integral to membrane catalytic activity CAGGGAATGTGTGTGGTTCAT 0.512000 7 122 0 0 1 0 0 CLPP 8192 broad.mit.edu 37 19 6361912 6361912 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:6361912G>A ENST00000245816.4 + 2 354 c.231G>A c.(229-231)tcG>tcA p.S77S CTB-180A7.3_ENST00000595644.1_RNA|CLPP_ENST00000596605.1_5'UTR|CLPP_ENST00000596149.1_5'UTR NM_006012.2 NP_006003.1 Q16740 CLPP_HUMAN caseinolytic mitochondrial matrix peptidase proteolytic subunit 77 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(2)|ovary(2) 6 ACATCTACTCGCGGCTGCTGC 0.731000 6 26 0 0 1 0 0 TCL1A 8115 broad.mit.edu 37 14 96180286 96180286 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:96180286C>T ENST00000402399.1 - 1 247 c.118G>A c.(118-120)Gag>Aag p.E40K RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.E40K|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.E40K|TCL1A_ENST00000554012.1_Missense_Mutation_p.E40K NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 40 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GGCTGTACCTCGATGGTTAAG 0.632000 T TRA@ T-CLL 11 50 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36563218 36563218 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:36563218C>T ENST00000397799.1 - 4 2288 c.2064G>A c.(2062-2064)acG>acA p.T688T COL8A2_ENST00000303143.4_Silent_p.T688T|COL8A2_ENST00000481785.1_Silent_p.T623T P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 688 C1q.|Nonhelical region (NC1). angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGATGTACTCCGTGGAGTAGA 0.647000 12 40 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197664327 197664327 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:197664327C>T ENST00000263956.3 - 1 98 c.9G>A c.(7-9)ggG>ggA p.G3G GTF3C3_ENST00000409364.3_Silent_p.G3G NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 3 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CCGGACTGAACCCTGACATGT 0.557000 6 93 0 0 1 0 0 SYNGR2 9144 broad.mit.edu 37 17 76167066 76167066 + Missense_Mutation SNP G G A rs140124425 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:76167066G>A ENST00000225777.3 + 2 327 c.268G>A c.(268-270)Gcg>Acg p.A90T SYNGR2_ENST00000585591.1_Missense_Mutation_p.A90T|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000590201.1_Missense_Mutation_p.A34T|SYNGR2_ENST00000588282.1_Missense_Mutation_p.A90T O43760 SNG2_HUMAN synaptogyrin 2 90 MARVEL. integral to plasma membrane endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GGTGGTCGACGCGTATTTCCC 0.577000 16 56 0 0 1 0 0 FOXA3 3171 broad.mit.edu 37 19 46375625 46375625 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:46375625C>G ENST00000302177.2 + 2 559 c.362C>G c.(361-363)tCc>tGc p.S121C NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 121 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) CCACCGTATTCCTATATCTCA 0.612000 6 71 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43821217 43821217 + Splice_Site SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:43821217T>C ENST00000417669.2 + 2 668 c.e2+2 MPPED1_ENST00000443721.1_Splice_Site|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000542779.1_Splice_Site|MPPED1_ENST00000538182.1_Splice_Site O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) TGTGCAGATGTAAGTGGGACC 0.637000 4 26 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52643360 52643360 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:52643360C>T ENST00000356770.4 - 15 2442 c.2440G>A c.(2440-2442)Gaa>Aaa p.E814K PBRM1_ENST00000409114.3_Missense_Mutation_p.E861K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E861K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E846K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E846K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E846K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E846K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E846K Q86U86 PB1_HUMAN polybromo 1 846 Bromo 6. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.E846*(2)|p.E814*(1) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCCAATACTTCAAACATATGC 0.328000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 5 66 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130331463 130331463 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:130331463C>T ENST00000299164.2 + 2 1037 c.1037C>T c.(1036-1038)tCt>tTt p.S346F NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 346 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AGAAGCTGCTCTGTCATTGAG 0.607000 6 88 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39649941 39649941 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:39649941C>T ENST00000216832.4 + 9 1095 c.1028C>T c.(1027-1029)gCg>gTg p.A343V PNN_ENST00000557680.1_Intron NM_002687.3 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein 343 Glu-rich. A -> G (in Ref. 1; AAB48304). cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) aaggaaatagcgattgttcat 0.453000 4 12 0 0 1 0 0 NPS 594857 broad.mit.edu 37 10 129350727 129350727 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:129350727T>C ENST00000398023.1 + 3 114 c.94T>C c.(94-96)Tct>Cct p.S32P NM_001030013.1 NP_001025184.1 P0C0P6 NPS_HUMAN neuropeptide S 32 neuropeptide signaling pathway extracellular region haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 TTGCCAGGTGTCTGGAAAATC 0.388000 6 324 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 12028871 12028871 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:12028871A>G ENST00000269159.3 + 7 872 c.630A>G c.(628-630)gcA>gcG p.A210A IMPA2_ENST00000588927.1_Silent_p.A21A|IMPA2_ENST00000589238.1_Silent_p.A21A NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 210 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) CCACATTGGCACTCTGCCACC 0.612000 8 101 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896105 77896105 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:77896105C>T ENST00000262198.4 + 4 3264 c.2809C>T c.(2809-2811)Cgc>Tgc p.R937C NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 937 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R937C(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CCATTTGGTGCGCTGCAGAAG 0.557000 24 52 0 0 1 0 0 CTSL3P 392360 broad.mit.edu 37 9 90396120 90396120 + RNA SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:90396120C>T ENST00000354530.2 + 0 496 NR_027917.1 tggggaatctcagcagagtcc 0.458000 5 47 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641659 106641659 + RNA SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:106641659G>A ENST00000390605.2 - 0 313 TGGTGACTCTGCCCTGGAGCT 0.552000 37 196 0 0 1 0 0 PDE3B 5140 broad.mit.edu 37 11 14865508 14865508 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:14865508C>T ENST00000282096.4 + 12 2809 c.2456C>T c.(2455-2457)gCc>gTc p.A819V PDE3B_ENST00000455098.2_Missense_Mutation_p.A768V NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 819 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTGGCAGCTGCCATGCATGAT 0.408000 19 88 0 0 1 0 0 VPS37A 137492 broad.mit.edu 37 8 17143899 17143899 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:17143899C>T ENST00000324849.4 + 11 1831 c.1157C>T c.(1156-1158)gCg>gTg p.A386V VPS37A_ENST00000521829.1_Missense_Mutation_p.A361V NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 386 VPS37 C-terminal. cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) CTTCAGCAGGCGATAGCAATG 0.358000 5 23 0 0 1 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795151 100795151 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:100795151C>T ENST00000361529.3 + 5 494 c.416C>T c.(415-417)tCg>tTg p.S139L SLC25A47_ENST00000557052.1_5'UTR NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 139 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 CTTTCGGCCTCGGGGCCGTTG 0.682000 7 37 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518193 113518193 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:113518193G>C ENST00000284601.3 - 4 3022 c.2954C>G c.(2953-2955)tCa>tGa p.S985* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 985 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCTACTACCTGATGTCACTAT 0.368000 18 73 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71146714 71146714 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:71146714C>T ENST00000355527.3 - 9 1411 c.1135G>A c.(1135-1137)Gag>Aag p.E379K DHCR7_ENST00000407721.2_Missense_Mutation_p.E379K NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 379 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) TAGGAGCACTCGATGACCTTG 0.647000 Smith-Lemli-Opitz syndrome 7 25 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160109736 160109736 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:160109736A>G ENST00000361216.3 + 22 3085 c.2996A>G c.(2995-2997)gAt>gGt p.D999G ATP1A2_ENST00000392233.3_Missense_Mutation_p.D988G NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 999 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TTCATCTATGATGAGGTCCGA 0.582000 27 120 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20130270 20130270 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:20130270G>C ENST00000345530.3 - 26 3156 c.3041C>G c.(3040-3042)tCt>tGt p.S1014C WDR35_ENST00000416055.2_Missense_Mutation_p.S487C|WDR35_ENST00000281405.4_Missense_Mutation_p.S1003C NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 1014 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTGTTGTAGACAGAACTTC 0.493000 11 63 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40890038 40890038 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:40890038G>A ENST00000291823.2 - 2 758 c.474C>T c.(472-474)gaC>gaT p.D158D NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 158 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CGGATCCGAAGTCAATCACCT 0.637000 11 43 0 0 1 0 0 SLC18A3 6572 broad.mit.edu 37 10 50820304 50820304 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:50820304C>T ENST00000374115.3 + 1 1958 c.1518C>T c.(1516-1518)ggC>ggT p.G506G CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 506 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CTGTGTCTGGCCAGGACGGCG 0.647000 6 78 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798643 57798643 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:57798643C>G ENST00000302622.3 + 1 242 c.219C>G c.(217-219)atC>atG p.I73M OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) GCCTTGAAATCTGGTACACTT 0.478000 32 137 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897037 175897037 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:175897037G>T ENST00000359240.3 + 5 1031 c.361G>T c.(361-363)Ggg>Tgg p.G121W ADAM29_ENST00000404450.4_Missense_Mutation_p.G121W|ADAM29_ENST00000514159.1_Missense_Mutation_p.G121W|ADAM29_ENST00000445694.1_Missense_Mutation_p.G121W NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 121 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) TACCTGTTTTGGGGGTTTTCA 0.428000 9 95 0.00448238 0.00464513 1 1 0 UPF1 5976 broad.mit.edu 37 19 18968215 18968215 + Silent SNP C C T rs149225517 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:18968215C>T ENST00000262803.5 + 15 2327 c.2055C>T c.(2053-2055)ttC>ttT p.F685F UPF1_ENST00000599848.1_Silent_p.F696F NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 696 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 AGTCGCTCTTCGAGCGCCTGG 0.637000 8 47 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 909737 909737 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:909737C>T ENST00000316157.3 - 4 416 c.376G>A c.(376-378)Gct>Act p.A126T NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 126 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 AGAGCGAGAGCGTTCATGTCT 0.522000 24 71 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30675470 30675470 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:30675470G>T ENST00000376406.3 - 8 3533 c.2886C>A c.(2884-2886)gcC>gcA p.A962A MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 962 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TTGGGCTGGAGGCCTGCCCTT 0.637000 Other conserved DNA damage response genes 11 55 2.80697e-09 3.22073e-09 1 1 0 DHX9 1660 broad.mit.edu 37 1 182827872 182827872 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:182827872A>G ENST00000367549.3 + 10 1015 c.905A>G c.(904-906)gAa>gGa p.E302G NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 302 Interaction with BRCA1. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TAATAGCCTGAAGATCCTTCT 0.413000 6 94 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111217049 111217049 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:111217049G>A ENST00000369769.2 - 1 606 c.383C>T c.(382-384)aCg>aTg p.T128M NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 128 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCCAGCAGCGTCTCGGGGAA 0.662000 11 80 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79421055 79421055 + Missense_Mutation SNP G G A rs149692526 by1000genomes TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:79421055G>A ENST00000264895.6 + 61 9736 c.9296G>A c.(9295-9297)cGa>cAa p.R3099Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3094 Calx-beta 5. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCAAAGAGCCGAGTCTTGAAG 0.478000 4 103 0 0 1 0 0 PSMB7 5695 broad.mit.edu 37 9 127119181 127119181 + Missense_Mutation SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:127119181T>C ENST00000259457.3 - 7 597 c.584A>G c.(583-585)aAg>aGg p.K195R PSMB7_ENST00000536392.1_3'UTR|PSMB7_ENST00000498485.1_5'UTR NM_002799.3 NP_002790.1 Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 195 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 CACCAGATTCTTGGCTTCCTC 0.547000 9 65 0 0 1 0 0 SAMD8 142891 broad.mit.edu 37 10 76935909 76935909 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:76935909G>A ENST00000372687.4 + 5 963 c.878G>A c.(877-879)tGt>tAt p.C293Y SAMD8_ENST00000542569.1_Missense_Mutation_p.C293Y|SAMD8_ENST00000372690.3_Missense_Mutation_p.C356Y Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 sphingomyelin biosynthetic process integral to membrane NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 12 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GTTCACACATGTGGAGATTAC 0.413000 4 195 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57485051 57485051 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:57485051T>C ENST00000371100.4 + 11 3366 c.2814T>C c.(2812-2814)gaT>gaC p.D938D GNAS_ENST00000371095.3_Silent_p.D281D|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Silent_p.D280D|GNAS_ENST00000371085.3_Silent_p.D295D|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Silent_p.D281D|GNAS_ENST00000371102.4_Silent_p.D924D|GNAS_ENST00000354359.7_Silent_p.D296D|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 295 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACAAGCAAGATCTGCTCGCTG 0.527000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 13 93 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18862967 18862967 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:18862967C>T ENST00000317977.6 + 4 742 c.171C>T c.(169-171)atC>atT p.I57I SLC5A10_ENST00000417251.2_Silent_p.I113I|SLC5A10_ENST00000395645.3_Silent_p.I113I|SLC5A10_ENST00000395642.1_Silent_p.I57I|SLC5A10_ENST00000395647.2_Silent_p.I113I|SLC5A10_ENST00000395643.2_Silent_p.I113I NM_001282417.1 NP_001269346.1 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 113 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 CCATCTACATCTCCTCAGAGG 0.607000 6 25 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9871715 9871715 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:9871715C>T ENST00000256190.8 - 22 2798 c.2661G>A c.(2659-2661)gaG>gaA p.E887E RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 887 GRAM. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CTCGAAGACCCTCACAGACAA 0.463000 17 70 0 0 1 0 0 KIF5B 3799 broad.mit.edu 37 10 32323666 32323666 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:32323666G>A ENST00000302418.4 - 11 1520 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 355 stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) ATAGTGTTCCGCAGGATCTTA 0.343000 T """RET, ALK""" NSCLC 5 63 0 0 1 0 0 CA6 765 broad.mit.edu 37 1 9009441 9009441 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:9009441A>G ENST00000480186.3 + 2 204 c.199A>G c.(199-201)Aat>Gat p.N67D CA6_ENST00000377443.2_Missense_Mutation_p.N67D|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Missense_Mutation_p.N67D|CA6_ENST00000377442.2_Intron P23280 CAH6_HUMAN carbonic anhydrase VI one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GAAGGGGCTCAATATGACAGG 0.602000 6 27 0 0 1 0 0 NPTN 27020 broad.mit.edu 37 15 73889661 73889661 + Silent SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:73889661G>T ENST00000345330.4 - 2 338 c.141C>A c.(139-141)gcC>gcA p.A47A NPTN_ENST00000287226.8_Silent_p.A47A|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000563691.1_Silent_p.A47A|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000545878.1_Silent_p.A47A|NPTN_ENST00000542234.1_Intron NM_001161363.1|NM_012428.3 NP_001154835.1|NP_036560.1 Q9Y639 NPTN_HUMAN neuroplastin 47 Ig-like 1. elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 ACAGCTCAAAGGCGTCCCCCG 0.562000 6 43 0.0215528 0.0220024 1 1 0 GPRC6A 222545 broad.mit.edu 37 6 117130529 117130529 + Nonsense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:117130529G>C ENST00000310357.3 - 2 467 c.446C>G c.(445-447)tCa>tGa p.S149* GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.S149*|GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.S149* NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 149 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AGTTATTTCTGAGTACCCAGA 0.403000 17 79 0 0 1 0 0 CYB561D2 11068 broad.mit.edu 37 3 50391063 50391063 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:50391063C>A ENST00000418577.1 + 3 1133 c.557C>A c.(556-558)tCt>tAt p.S186Y CYB561D2_ENST00000424512.1_Missense_Mutation_p.S186Y|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000232508.5_Missense_Mutation_p.S186Y|CYB561D2_ENST00000425346.1_Missense_Mutation_p.S186Y O14569 C56D2_HUMAN cytochrome b561 family, member D2 186 Cytochrome b561. electron transport chain|transport integral to membrane metal ion binding endometrium(1)|lung(1)|urinary_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCACTGCCTCTGTCACTGGT 0.557000 30 120 5.91797e-21 7.07471e-21 1 1 0 CRAMP1L 57585 broad.mit.edu 37 16 1691168 1691168 + Missense_Mutation SNP G G C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:1691168G>C ENST00000454337.1 + 3 220 c.220G>C c.(220-222)Gaa>Caa p.E74Q CRAMP1L_ENST00000397412.3_Silent_p.L269L|CRAMP1L_ENST00000293925.5_Silent_p.L269L|CRAMP1L_ENST00000436138.3_Silent_p.L266L CAACAAAGCTGAATGAACTCA 0.368000 15 66 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144671271 144671271 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:144671271G>A ENST00000532741.1 - 1 1359 c.1131C>T c.(1129-1131)tgC>tgT p.C377C EEF1D_ENST00000442189.2_Silent_p.C327C|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000423316.2_Silent_p.C327C|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000524624.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CGTGGTGGCGGCACTCGGCGC 0.692000 3 8 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79655766 79655766 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:79655766C>G ENST00000329138.4 + 5 459 c.324C>G c.(322-324)atC>atG p.I108M NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 108 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GTAACAAGATCCTGTACCTGA 0.597000 11 14 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141559307 141559307 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:141559307C>T ENST00000220592.5 - 12 1606 c.1494G>A c.(1492-1494)gcG>gcA p.A498A AGO2_ENST00000519980.1_Silent_p.A498A NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CCACGCTGTCCGCCCCCTGCG 0.632000 5 34 0 0 1 0 0 ZNF816 125893 broad.mit.edu 37 19 53453802 53453802 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:53453802C>G ENST00000357666.4 - 5 1526 c.1226G>C c.(1225-1227)aGa>aCa p.R409T ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R409T NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 AAGGTGTGATCTGCGAATGTA 0.393000 12 127 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158902258 158902258 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:158902258C>T ENST00000367097.3 + 8 2780 c.1423C>T c.(1423-1425)Cgg>Tgg p.R475W TULP4_ENST00000367094.2_Missense_Mutation_p.R475W NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 475 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCTCAAAGGGCGGCGCATCAG 0.647000 7 30 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22186673 22186673 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:22186673C>G ENST00000374695.3 - 40 5090 c.5011G>C c.(5011-5013)Gag>Cag p.E1671Q NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1671 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CACTTACTCTCTGGCAGGCAC 0.647000 5 18 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94983445 94983445 + Missense_Mutation SNP T T C rs34897570 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:94983445T>C ENST00000357742.4 + 17 2126 c.2126T>C c.(2125-2127)aTc>aCc p.I709T MCTP2_ENST00000451018.3_Intron NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 709 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CTATATATGATCCCCTTGGCA 0.413000 26 125 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923171 24923171 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:24923171G>T ENST00000329468.2 + 1 2631 c.2157G>T c.(2155-2157)aaG>aaT p.K719N NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCTCCAAGAAGTACCTCCCAT 0.527000 15 100 1.49906e-05 1.64034e-05 1 1 0 KIAA0947 23379 broad.mit.edu 37 5 5462936 5462936 + Silent SNP T T C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:5462936T>C ENST00000296564.7 + 13 3711 c.3489T>C c.(3487-3489)acT>acC p.T1163T NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1163 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 ACATAAGTACTTTTTCTGAGC 0.418000 3 15 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86198906 86198906 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:86198906C>A ENST00000394518.2 + 11 4728 c.4633C>A c.(4633-4635)Cct>Act p.P1545T AKAP13_ENST00000361243.2_Missense_Mutation_p.P1545T|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1545 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CACTGAAGTGCCTGCAAACTG 0.577000 11 47 3.86212e-05 4.15967e-05 1 1 0 ZNF567 163081 broad.mit.edu 37 19 37211037 37211037 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:37211037C>T ENST00000585696.1 + 3 2548 c.1318C>T c.(1318-1320)Cat>Tat p.H440Y ZNF567_ENST00000588311.1_Missense_Mutation_p.H440Y|ZNF567_ENST00000536254.2_Missense_Mutation_p.H471Y|ZNF567_ENST00000360729.4_Missense_Mutation_p.H440Y|ZNF567_ENST00000392163.2_Missense_Mutation_p.H440Y|ZNF850_ENST00000589390.1_Intron Q8N184 ZN567_HUMAN zinc finger protein 567 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCAGAGAACACATACAGGGGA 0.428000 14 84 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114832653 114832653 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:114832653C>T ENST00000310346.4 - 6 1222 c.556G>A c.(556-558)Gtg>Atg p.V186M TBX5_ENST00000349716.5_Missense_Mutation_p.V136M|TBX5_ENST00000526441.1_Missense_Mutation_p.V186M|TBX5_ENST00000405440.2_Missense_Mutation_p.V186M NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 186 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCCGCTTTCACGATGTGTAAT 0.363000 36 157 0 0 1 0 0 DHRS11 79154 broad.mit.edu 37 17 34951594 34951594 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:34951594G>A ENST00000251312.5 + 2 553 c.341G>A c.(340-342)tGg>tAg p.W114* DHRS11_ENST00000590554.1_Nonsense_Mutation_p.W35*|DHRS11_ENST00000394445.1_3'UTR NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 114 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 ACCAGTGGTTGGAAGGACATG 0.572000 3 34 0 0 1 0 0 ZNF200 7752 broad.mit.edu 37 16 3282457 3282457 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:3282457C>T ENST00000431561.3 - 4 1042 c.430G>A c.(430-432)Gaa>Aaa p.E144K ZNF200_ENST00000414144.2_Missense_Mutation_p.E144K|ZNF200_ENST00000396871.4_Missense_Mutation_p.E144K|ZNF200_ENST00000396870.4_Missense_Mutation_p.E144K|ZNF200_ENST00000396868.3_Missense_Mutation_p.E143K|ZNF200_ENST00000575948.1_Missense_Mutation_p.E144K NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 CTGTCATCTTCCTTCTCTGAC 0.453000 23 124 0 0 1 0 0 DLL1 28514 broad.mit.edu 37 6 170592091 170592091 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:170592091G>A ENST00000366756.3 - 10 2484 c.2151C>T c.(2149-2151)tgC>tgT p.C717C NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 717 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TTGCTATGACGCACTCATCCT 0.552000 17 112 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53819354 53819354 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:53819354C>T ENST00000257863.4 + 5 698 c.618C>T c.(616-618)tcC>tcT p.S206S AMHR2_ENST00000550311.1_Silent_p.S206S|AMHR2_ENST00000379791.3_Silent_p.S206S NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 206 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.S206S(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) TGTGTTTCTCCCAGGTGCCCC 0.617000 3 30 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2760755 2760755 + Missense_Mutation SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:2760755C>T ENST00000344100.3 + 32 3961 c.3961C>T c.(3961-3963)Cac>Tac p.H1321Y CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399601.1_Intron Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1363 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCCTGTTCTCACCCCCCTCT 0.612000 11 43 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23186033 23186033 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:23186033G>A ENST00000389131.3 - 6 1381 c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 338 SRCR 3. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) ACCTCCACGCGGCCCTCCCCG 0.622000 17 39 0 0 1 0 0 CRTC3 64784 broad.mit.edu 37 15 91172566 91172566 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:91172566C>T ENST00000420329.2 + 11 1215 c.1068C>T c.(1066-1068)aaC>aaT p.N356N RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Silent_p.N356N NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 356 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTGTTCCCAACGCATCTGCTC 0.552000 T MAML2 salivary gland mucoepidermoid 5 154 0 0 1 0 0 VEZT 55591 broad.mit.edu 37 12 95694441 95694441 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:95694441G>A ENST00000436874.1 + 12 2437 c.2332G>A c.(2332-2334)Gaa>Aaa p.E778K VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E730K NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 778 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TGAGATAGAAGAAAAGTAAGA 0.353000 4 16 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79662979 79662979 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:79662979G>A ENST00000329138.4 + 15 1478 c.1343G>A c.(1342-1344)gGc>gAc p.G448D NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 448 Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity). cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TCCATCAACGGCATGCACCCG 0.652000 3 29 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62713149 62713149 + Missense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:62713149C>G ENST00000371153.4 - 9 3256 c.2878G>C c.(2878-2880)Gac>Cac p.D960H KANK4_ENST00000354381.3_Missense_Mutation_p.D332H|KANK4_ENST00000371150.1_Missense_Mutation_p.D316H|KANK4_ENST00000317477.4_Missense_Mutation_p.D98H NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 960 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CTCACCTTGTCAGTCAGGCTG 0.602000 3 47 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3349228 3349228 + Missense_Mutation SNP G G T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:3349228G>T ENST00000396862.1 - 2 3215 c.1387C>A c.(1387-1389)Caa>Aaa p.Q463K TIGD7_ENST00000268674.2_Missense_Mutation_p.Q463K NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 463 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CCTCCTTTTTGAACAACTTCC 0.398000 5 161 0.0293803 0.0298156 1 1 0 SHKBP1 92799 broad.mit.edu 37 19 41083167 41083167 + Nonsense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:41083167G>A ENST00000291842.5 + 2 166 c.117G>A c.(115-117)tgG>tgA p.W39* SHKBP1_ENST00000600733.1_Nonsense_Mutation_p.W39* NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 39 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCTCACCTGGATCCCAGACT 0.612000 8 45 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137323065 137323065 + Missense_Mutation SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:137323065A>G ENST00000367748.1 - 6 1545 c.959T>C c.(958-960)tTa>tCa p.L320S IL20RA_ENST00000316649.5_Missense_Mutation_p.L431S|IL20RA_ENST00000541547.1_Missense_Mutation_p.L382S NM_001278723.1 NP_001265652.1 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 431 integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CGACTCCAATAATGTTCCTTG 0.532000 3 61 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564305 8564305 + Missense_Mutation SNP C C A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:8564305C>A ENST00000423345.4 - 2 907 c.387G>T c.(385-387)aaG>aaT p.K129N PRAM1_ENST00000255612.3_Missense_Mutation_p.K129N Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 177 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GTGGGAACTTCTTGGAGAGGT 0.652000 15 65 1.02788e-11 1.19949e-11 1 1 0 OTUD7B 56957 broad.mit.edu 37 1 149916332 149916332 + Silent SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:149916332G>A ENST00000369135.4 - 12 2250 c.1956C>T c.(1954-1956)atC>atT p.I652I NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CTCCATTCATGATCTTCCTCT 0.562000 5 75 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202418189 202418189 + Silent SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:202418189C>G ENST00000608999.1 + 13 1893 c.1740C>G c.(1738-1740)ctC>ctG p.L580L PPP1R12B_ENST00000336894.4_Silent_p.L580L NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) GCACCCCGCTCTGTGTGATCA 0.493000 4 50 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21100060 21100060 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:21100060delT ENST00000312239.5 - 5 533 c.394delA c.(394-396)acafs p.T132fs HP1BP3_ENST00000375003.2_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 132 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GAAGGAATTGTTTTTTTCACT 0.413 7 41 --- --- --- --- SH3BGRL3 83442 broad.mit.edu 37 1 26606675 26606675 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:26606675delC ENST00000270792.5 + 1 1009 c.29delC c.(28-30)tcgfs p.S10fs SH3BGRL3_ENST00000319041.6_Frame_Shift_Del_p.S10fs NM_031286.3 NP_112576.1 Q9H299 SH3L3_HUMAN SH3 domain binding glutamic acid-rich protein like 3 10 Glutaredoxin. cell redox homeostasis cytoplasm|nucleus electron carrier activity|protein disulfide oxidoreductase activity all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649) TACAGCACGTCGGTCACCGGC 0.721 2 4 --- --- --- --- THRAP3 9967 broad.mit.edu 37 1 36762331 36762332 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:36762331_36762332insA ENST00000354618.5 + 9 2487_2488 c.2263_2264insA c.(2263-2265)gaafs p.E755fs THRAP3_ENST00000469141.2_Frame_Shift_Ins_p.E755fs NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 755 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAGGTCAGCTGAAAAAACAGAG 0.431 T USP6 aneurysmal bone cysts 9 46 --- --- --- --- PTCH2 8643 broad.mit.edu 37 1 45292664 45292664 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:45292664delG ENST00000447098.2 - 17 2616 c.2605delC c.(2605-2607)ctgfs p.L869fs PTCH2_ENST00000372192.3_Frame_Shift_Del_p.L869fs NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 869 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GCCAGACCCAGGGGGTCACTG 0.602 Basal Cell Nevus syndrome 30 195 --- --- --- --- ST6GALNAC3 256435 broad.mit.edu 37 1 77094396 77094396 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:77094396delG ENST00000328299.3 + 5 971 c.823delG c.(823-825)gggfs p.G276fs NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 276 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGCCCCATATGGGGGTCATAG 0.378 8 75 --- --- --- --- ELTD1 64123 broad.mit.edu 37 1 79385987 79385988 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:79385987_79385988insA ENST00000370742.3 - 10 1404_1405 c.1341_1342insT c.(1339-1344)tttaccfs p.T448fs NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 448 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AACCAGAAGGTAAAAATGCATA 0.322 20 86 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93683367 93683368 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:93683367_93683368insA ENST00000343253.7 + 14 2402_2403 c.1900_1901insA c.(1900-1902)gaafs p.E634fs CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.E753fs|CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.E635fs|CCDC18_ENST00000334652.5_5'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 634 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TTTAGCCTTTGAAAAAGCAAAG 0.297 11 86 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1798-1800)gggfs p.G600fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 600 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 8 59 --- --- --- --- DYRK3 8444 broad.mit.edu 37 1 206821938 206821938 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:206821938delG ENST00000367106.1 + 4 1808 c.1335delG c.(1333-1335)gtgfs p.V445fs DYRK3_ENST00000367108.3_Frame_Shift_Del_p.V445fs|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Frame_Shift_Del_p.V465fs O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 465 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V430V(1)|p.V465V(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TTGTGCTTGTGGGGGGTCGCT 0.527 33 178 --- --- --- --- PLXNA2 5362 broad.mit.edu 37 1 208391176 208391176 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:208391176delG ENST00000367033.3 - 2 849 c.92delC c.(91-93)ccafs p.P31fs NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 31 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GCCGGCTGCTGGGGGGGCCAG 0.652 9 75 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226576366 226576366 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:226576366delT ENST00000366794.5 - 5 851 c.708delA c.(706-708)aaafs p.K236fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 236 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) CCTTTAGGGCTTTTTCAAGCT 0.428 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 10 61 --- --- --- --- CDC42BPA 8476 broad.mit.edu 37 1 227300483 227300483 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:227300483delT ENST00000366769.3 - 13 3070 c.1779delA c.(1777-1779)aaafs p.K593fs CDC42BPA_ENST00000366765.3_Frame_Shift_Del_p.K593fs|CDC42BPA_ENST00000535525.1_Frame_Shift_Del_p.K593fs|CDC42BPA_ENST00000334218.5_Frame_Shift_Del_p.K593fs|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366766.2_Frame_Shift_Del_p.K593fs|CDC42BPA_ENST00000366764.2_Frame_Shift_Del_p.K593fs NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 593 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CAAGTTTCTGTTTTTGGGTGT 0.468 10 236 --- --- --- --- SMYD3 64754 broad.mit.edu 37 1 246490502 246490503 + Splice_Site INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr1:246490502_246490503insT ENST00000490107.1 - 5 570_571 c.e5+1 SMYD3_ENST00000403792.3_Splice_Site|SMYD3_ENST00000541742.1_Splice_Site|SMYD3_ENST00000388985.4_Splice_Site NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) TTAACACTTACTTTTGCAAAGG 0.376 22 71 --- --- --- --- MSH6 2956 broad.mit.edu 37 2 48026207 48026209 + In_Frame_Del DEL CTA CTA - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:48026207_48026209delCTA ENST00000234420.5 + 4 1237_1239 c.1085_1087delCTA c.(1084-1089)cctact>cct p.T363del MSH6_ENST00000540021.1_In_Frame_Del_p.T233del|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_In_Frame_Del_p.T61del NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGTAGTCGCCCTACTGTTTGGTA 0.448 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 13 79 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- OR5K4 403278 broad.mit.edu 37 3 98072930 98072930 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:98072930delC ENST00000354924.2 + 1 233 c.233delC c.(232-234)accfs p.T78fs RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TGTGCTGTTACCCCCAAGATG 0.418 88 287 --- --- --- --- LINC00882 100302640 broad.mit.edu 37 3 106825051 106825051 + RNA DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:106825051delT ENST00000484698.1 - 0 295 TTCGACCCTCTTTTTGGCTGT 0.473 9 88 --- --- --- --- CCDC80 151887 broad.mit.edu 37 3 112335584 112335584 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:112335584delT ENST00000206423.3 - 5 3247 c.2294delA c.(2293-2295)aagfs p.K765fs CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K765fs NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 765 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CAGGGACTGCTTTTTGTCCTC 0.433 12 89 --- --- --- --- P2RY12 64805 broad.mit.edu 37 3 151056522 151056523 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:151056522_151056523insA ENST00000302632.3 - 3 410_411 c.111_112insT c.(109-114)tttgttfs p.V38fs MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 38 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) ATAAGTCCAACAAAAAACAGGA 0.431 11 64 --- --- --- --- EHHADH 1962 broad.mit.edu 37 3 184910529 184910529 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr3:184910529delT ENST00000231887.3 - 7 1732 c.1657delA c.(1657-1659)aggfs p.R553fs EHHADH_ENST00000456310.1_Frame_Shift_Del_p.R457fs NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 553 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CTATTACCCCTTTTTCGGGCA 0.478 16 82 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85676452 85676453 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:85676452_85676453insA ENST00000322366.6 - 34 5932_5933 c.5525_5526insT c.(5524-5526)ttafs p.L1842fs WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.L1842fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1842 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTCCCAATAATAAAAAAACAGC 0.421 11 64 --- --- --- --- LARP7 51574 broad.mit.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:113570754delA ENST00000509061.1 + 11 1530 c.1227delA c.(1225-1227)ttafs p.L409fs LARP7_ENST00000344442.5_Frame_Shift_Del_p.L402fs|MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.L402fs NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 402 RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding p.T405fs*5(2) endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TGGCTTCTTTAAAAAAAACAA 0.333 11 31 --- --- --- --- FNIP2 57600 broad.mit.edu 37 4 159789994 159789994 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr4:159789994delA ENST00000264433.6 + 13 2281 c.2206delA c.(2206-2208)aaafs p.K737fs FNIP2_ENST00000379346.3_Frame_Shift_Del_p.K760fs NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 737 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AAGCCGCATGAAAAAAATGGA 0.522 18 82 --- --- --- --- DHX29 54505 broad.mit.edu 37 5 54593119 54593119 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:54593119delT ENST00000251636.5 - 3 517 c.369delA c.(367-369)aaafs p.K123fs NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 123 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) ATACCTGCAATTTTTTGGCAG 0.313 12 35 --- --- --- --- SMIM15 643155 broad.mit.edu 37 5 60455819 60455819 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:60455819delT ENST00000339020.3 - 3 605 c.180delA c.(178-180)aaafs p.K60fs SMIM15_ENST00000507416.1_Frame_Shift_Del_p.K60fs NM_001048249.3 NP_001041714.1 small integral membrane protein 15 TTTCTTGGCGTTTTTGCTTCT 0.418 21 93 --- --- --- --- IPO11 51194 broad.mit.edu 37 5 61770244 61770245 + Splice_Site INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:61770244_61770245insT ENST00000325324.6 + 8 879_880 c.710_711insT c.(709-714)ggtttt>ggTtttt p.GF237fs IPO11_ENST00000409296.3_Splice_Site_p.GF277fs|KIF2A_ENST00000509663.2_Intron NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 237 G -> V (in Ref. 2; BAG63985). cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CTTTTCTAGGGTTTTTTACATG 0.277 12 104 --- --- --- --- GTF2H2B 653238 broad.mit.edu 37 5 69717512 69717512 + RNA DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:69717512delG ENST00000513202.1 + 0 275 NR_033417.1 TTTTTTTTGTGGGGGGGGATA 0.303 10 41 --- --- --- --- ARHGEF28 64283 broad.mit.edu 37 5 73181827 73181827 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:73181827delA ENST00000545377.1 + 25 3384 c.3208delA c.(3208-3210)aaafs p.K1070fs ARHGEF28_ENST00000512883.1_Frame_Shift_Del_p.K34fs|ARHGEF28_ENST00000513042.2_Frame_Shift_Del_p.K1070fs|ARHGEF28_ENST00000426542.2_Frame_Shift_Del_p.K1070fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Del_p.K757fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Del_p.K1070fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Del_p.K1070fs|ARHGEF28_ENST00000287898.5_Frame_Shift_Del_p.K1070fs NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CACGAAGCTCAAAAATGGACA 0.363 14 32 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98206408 98206409 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:98206408_98206409insT ENST00000284049.3 - 28 4109_4110 c.3960_3961insA c.(3958-3963)aaagaafs p.E1321fs CHD1_ENST00000511067.1_5'UTR NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1321 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 p.E1321fs*22(1) 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) GAAAGAGCTTCTTTTTTTGCAA 0.381 16 103 --- --- --- --- PCDHB10 56126 broad.mit.edu 37 5 140574349 140574350 + Frame_Shift_Ins INS - - G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:140574349_140574350insG ENST00000239446.4 + 1 2408_2409 c.2224_2225insG c.(2224-2226)aggfs p.R742fs NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 742 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGGACGTGAGGGGCGCTGAG 0.629 19 137 --- --- --- --- LARS 51520 broad.mit.edu 37 5 145523014 145523014 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr5:145523014delC ENST00000394434.2 - 19 2004 c.1838delG c.(1837-1839)ggtfs p.G613fs LARS_ENST00000545646.1_Frame_Shift_Del_p.G567fs|LARS_ENST00000510191.1_Frame_Shift_Del_p.G559fs|LARS_ENST00000274562.9_Frame_Shift_Del_p.G586fs NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 613 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) ATGCAAGTTACCCCCCTGCAA 0.453 42 254 --- --- --- --- NRM 11270 broad.mit.edu 37 6 30657966 30657967 + Frame_Shift_Ins INS - - G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:30657966_30657967insG ENST00000259953.4 - 3 538_539 c.187_188insC c.(187-189)ctgfs p.L63fs NRM_ENST00000376421.5_Frame_Shift_Ins_p.L63fs|NRM_ENST00000376420.5_Frame_Shift_Ins_p.L63fs|NRM_ENST00000470733.1_5'UTR NM_007243.2 NP_009174.1 Q8IXM6 NRM_HUMAN nurim (nuclear envelope membrane protein) 63 integral to membrane|nuclear inner membrane large_intestine(1)|lung(2) 3 ATCCCATGCCAGGGGGGCAAGG 0.569 7 40 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30671965 30671965 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:30671965delG ENST00000376406.3 - 10 5642 c.4995delC c.(4993-4995)cccfs p.P1665fs MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.P1401fs NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1665 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 ACTGGTCTGTGGGGGTAAAAG 0.537 Other conserved DNA damage response genes 24 104 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44272425 44272425 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:44272425delC ENST00000244571.4 - 12 1711 c.1709delG c.(1708-1710)ggcfs p.G570fs TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron NM_020745.3 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 570 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) TGAAGCCTGGCCCCCCTGTTC 0.617 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 33 --- --- --- --- CDC5L 988 broad.mit.edu 37 6 44371655 44371656 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:44371655_44371656insA ENST00000371477.3 + 6 948_949 c.649_650insA c.(649-651)gaafs p.E217fs NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 217 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATCCCATTTGAAAAAAAGCCT 0.401 16 66 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390487 45390504 + In_Frame_Del DEL GGCGGCGGCGGCGGCTGC GGCGGCGGCGGCGGCTGC - rs11498192 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr6:45390487_45390504delGGCGGCGGCGGCGGCTGC ENST00000371438.1 + 2 574_591 c.216_233delGGCGGCGGCGGCGGCTGC c.(214-234)gaggcggcggcggcggctgcg>gag p.AAAAAA79del RUNX2_ENST00000359524.5_In_Frame_Del_p.AAAAAA65del|RUNX2_ENST00000465038.2_In_Frame_Del_p.AAAAAA79del|RUNX2_ENST00000371436.6_In_Frame_Del_p.AAAAAA79del|RUNX2_ENST00000352853.5_In_Frame_Del_p.AAAAAA147del|RUNX2_ENST00000576263.1_In_Frame_Del_p.AAAAAA79del|RUNX2_ENST00000371432.3_In_Frame_Del_p.AAAAAA65del|RUNX2_ENST00000541979.1_In_Frame_Del_p.AAAAAA147del NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 79 Poly-Ala. Missing. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcaggaggcggcggcggcggctgcggcggcggcg 0.729 8 10 --- --- --- --- LRGUK 136332 broad.mit.edu 37 7 133906656 133906656 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:133906656delA ENST00000285928.2 + 16 2038 c.1969delA c.(1969-1971)aaafs p.K658fs NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 658 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 ACTTTCAGCCAAAAAAACACC 0.388 10 46 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149504082 149504082 + RNA DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr7:149504082delG ENST00000378016.2 + 0 8903 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AACAACTGGTGGGTCACAGCG 0.662 2 4 --- --- --- --- ATP6V1H 51606 broad.mit.edu 37 8 54708340 54708341 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:54708340_54708341insA ENST00000355221.3 - 8 1241_1242 c.682_683insT c.(682-684)tcafs p.S228fs ATP6V1H_ENST00000520188.1_Frame_Shift_Ins_p.S206fs|ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.S246fs|ATP6V1H_ENST00000359530.2_Frame_Shift_Ins_p.S246fs NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 246 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) GAGCCATATTGAAAAAATCATT 0.381 13 59 --- --- --- --- EFR3A 23167 broad.mit.edu 37 8 132982802 132982802 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:132982802delG ENST00000254624.5 + 10 1296 c.1071delG c.(1069-1071)cagfs p.Q357fs EFR3A_ENST00000334503.4_Frame_Shift_Del_p.Q357fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.Q321fs NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 357 plasma membrane binding p.S348fs*15(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATGATTTACAGGGGGGATCTG 0.403 18 73 --- --- --- --- MIR30D 407033 broad.mit.edu 37 8 135817139 135817139 + RNA DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr8:135817139delG ENST00000362283.1 - 0 49 NR_029599.1 ACATCTGACTGAAAGCTTAGC 0.428 9 212 --- --- --- --- PLGRKT 55848 broad.mit.edu 37 9 5361173 5361173 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:5361173delT ENST00000223864.2 - 5 448 c.227delA c.(226-228)aagfs p.K77fs NM_018465.3 NP_060935.2 Q9HBL7 CI046_HUMAN plasminogen receptor, C-terminal lysine transmembrane protein 77 integral to membrane GGCTGGCTTCTTTTTTTTAAT 0.343 17 50 --- --- --- --- PGM5P2 595135 broad.mit.edu 37 9 69082101 69082102 + RNA INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:69082101_69082102insT ENST00000591037.1 - 0 1444 NR_002836.2 TATCAATTTTATTTTTTAGGAA 0.302 4 9 --- --- --- --- ACTL7B 10880 broad.mit.edu 37 9 111618046 111618047 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:111618046_111618047insT ENST00000374667.3 - 1 1192_1193 c.164_165insA c.(163-165)gacfs p.D55fs NM_006686.3 NP_006677.1 Q9Y614 ACL7B_HUMAN actin-like 7B 55 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGGAGCCCAGGTCGATGATGAC 0.663 17 105 --- --- --- --- TOR1A 1861 broad.mit.edu 37 9 132584978 132584978 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:132584978delT ENST00000351698.4 - 2 374 c.326delA c.(325-327)aatfs p.N109fs TOR1A_ENST00000473084.1_5'UTR NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 109 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) GCTGACGAAATTTTTGCCGGT 0.468 15 169 --- --- --- --- USP20 10868 broad.mit.edu 37 9 132641854 132641854 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:132641854delC ENST00000315480.4 + 24 2673 c.2515delC c.(2515-2517)cccfs p.P840fs USP20_ENST00000358355.1_Frame_Shift_Del_p.P840fs|USP20_ENST00000372429.3_Frame_Shift_Del_p.P840fs|USP20_ENST00000472108.1_3'UTR Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 840 DUSP 2. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) TGTTGCAGAGCCCCCCGGGCC 0.667 11 101 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135946988 135946988 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr9:135946988delC ENST00000372080.4 + 11 2124 c.2108delC c.(2107-2109)gccfs p.A703fs CEL_ENST00000351304.7_Frame_Shift_Del_p.A634fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 700 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GACTCCGGGGCCCCCCCCGTG 0.821 2 4 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:63958149delT ENST00000373789.3 - 12 1444 c.1348delA c.(1348-1350)attfs p.I450fs RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GTCTCTTCAATTTTTTTTTGT 0.333 9 63 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88754500 88754501 + RNA INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:88754500_88754501insA ENST00000444431.1 + 0 255 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TGGATGCAGTTAAAAAATGAAA 0.302 3 6 --- --- --- --- BLNK 29760 broad.mit.edu 37 10 97960799 97960799 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:97960799delC ENST00000224337.5 - 14 1091 c.950delG c.(949-951)ggafs p.G317fs BLNK_ENST00000371176.2_Frame_Shift_Del_p.G294fs|BLNK_ENST00000413476.2_Frame_Shift_Del_p.G317fs|BLNK_ENST00000427367.2_Frame_Shift_Del_p.G317fs NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 317 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) AGTTGGGTTTCCCCCTTCTGT 0.403 9 87 --- --- --- --- TAF5 6877 broad.mit.edu 37 10 105139367 105139368 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:105139367_105139368insT ENST00000369839.3 + 4 1139_1140 c.1116_1117insT c.(1117-1119)tttfs p.F373fs TAF5_ENST00000351396.4_Frame_Shift_Ins_p.F373fs NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 373 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.F374fs*4(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTGTAGGTATTTTTTGGTTT 0.287 8 26 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129904535 129904535 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr10:129904535delT ENST00000368654.3 - 13 5944 c.5569delA c.(5569-5571)atafs p.I1857fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.I1497fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1857 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTGCAGAGTATTTTTTTGGTA 0.483 9 240 --- --- --- --- PATL1 219988 broad.mit.edu 37 11 59425145 59425146 + Frame_Shift_Ins INS - - G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:59425145_59425146insG ENST00000300146.9 - 5 562_563 c.478_479insC c.(478-480)cagfs p.Q160fs NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 160 Pro-rich.|Region N; interaction with decapping machinery. Q -> H (in Ref. 2; BAG54601). cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTCTGGACCCTGGGGGGGCCTC 0.455 12 30 --- --- --- --- C11orf57 55216 broad.mit.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:111953289delA ENST00000532163.1 + 6 1154 c.388delA c.(388-390)aaafs p.K132fs C11orf57_ENST00000280352.9_Frame_Shift_Del_p.K160fs|C11orf57_ENST00000420986.2_Frame_Shift_Del_p.K160fs|C11orf57_ENST00000393047.3_Frame_Shift_Del_p.K161fs Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 160 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) GAAATCCCACAAAAAAAAGCA 0.393 12 51 --- --- --- --- SORL1 6653 broad.mit.edu 37 11 121483537 121483538 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr11:121483537_121483538insA ENST00000260197.7 + 40 5544_5545 c.5415_5416insA c.(5416-5418)aaafs p.K1806fs SORL1_ENST00000532694.1_Frame_Shift_Ins_p.K652fs|SORL1_ENST00000527934.1_Frame_Shift_Ins_p.K421fs|SORL1_ENST00000525532.1_Frame_Shift_Ins_p.K750fs|SORL1_ENST00000534286.1_Frame_Shift_Ins_p.K716fs NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1806 Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TATTGTCACACAAAGGTAACAC 0.525 7 16 --- --- --- --- C1S 716 broad.mit.edu 37 12 7171653 7171653 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:7171653delC ENST00000406697.1 + 8 1102 c.474delC c.(472-474)tgcfs p.C158fs C1S_ENST00000328916.3_Frame_Shift_Del_p.C158fs|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Del_p.C158fs P09871 C1S_HUMAN complement component 1, s subcomponent 158 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TCTGCTCCTGCCCCCCGGAAT 0.453 19 104 --- --- --- --- ASUN 55726 broad.mit.edu 37 12 27066991 27066992 + Frame_Shift_Ins INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:27066991_27066992insT ENST00000261191.7 - 13 2025_2026 c.1489_1490insA c.(1489-1491)acafs p.T497fs ASUN_ENST00000539625.1_Frame_Shift_Ins_p.T396fs NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 497 cell division|mitosis|regulation of mitotic cell cycle protein binding GTTGTATATTGTTTTTTGACAG 0.312 13 76 --- --- --- --- ALG10B 144245 broad.mit.edu 37 12 38714286 38714286 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:38714286delA ENST00000308742.4 + 3 1009 c.693delA c.(691-693)agafs p.R231fs ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 231 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CAGAATTCAGAAAAATTCTTC 0.373 11 122 --- --- --- --- CDK4 1019 broad.mit.edu 37 12 58145367 58145369 + In_Frame_Del DEL CCT CCT - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:58145367_58145369delCCT ENST00000257904.6 - 2 497_499 c.132_134delAGG c.(130-135)ggaggt>ggt p.44_45GG>G CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_In_Frame_Del_p.44_45GG>G|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 44 Poly-Gly.|Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GCCTCCTCCACCTCCTCCTCCAT 0.567 Mis melanoma Hereditary Melanoma 10 73 --- --- --- --- SPIC 121599 broad.mit.edu 37 12 101880233 101880234 + Frame_Shift_Ins INS - - A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:101880233_101880234insA ENST00000551346.1 + 6 590_591 c.431_432insA c.(430-435)tcaaaafs p.SK144fs SPIC_ENST00000299272.5_Frame_Shift_Ins_p.SK144fs Q8N5J4 SPIC_HUMAN Spi-C transcription factor (Spi-1/PU.1 related) 144 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 CAGTTTGTATCAAAAAACAAAG 0.421 8 65 --- --- --- --- ANKRD13A 88455 broad.mit.edu 37 12 110451041 110451041 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr12:110451041delA ENST00000261739.4 + 3 507 c.341delA c.(340-342)caafs p.Q114fs ANKRD13A_ENST00000550404.1_3'UTR NM_033121.1 NP_149112.1 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13A 114 endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1) 16 GAGCTGCTCCAAAAAATTCTC 0.478 9 58 --- --- --- --- RP11-643G16.4 0 broad.mit.edu 37 14 68082888 68082888 + RNA DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:68082888delA ENST00000559968.1 + 0 1243 TTTTAAAGACAAAAAAAATTT 0.328 12 82 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783572 96783572 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr14:96783572delT ENST00000359933.4 - 20 4013 c.3120delA c.(3118-3120)aaafs p.K1040fs NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GAGAGTCTAATTTTTTTTTCC 0.368 8 51 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25304706 25304706 + RNA DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:25304706delA ENST00000549804.2 + 0 99 SNHG14_ENST00000384733.1_RNA GAGTCCCCCCAAAAAAACATT 0.502 8 256 --- --- --- --- MAP1A 4130 broad.mit.edu 37 15 43821166 43821166 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:43821166delC ENST00000382031.1 + 5 8240 c.8209delC c.(8209-8211)cccfs p.P2738fs MAP1A_ENST00000300231.5_Frame_Shift_Del_p.P2500fs|MAP1A_ENST00000399453.1_Frame_Shift_Del_p.P2500fs P78559 MAP1A_HUMAN microtubule-associated protein 1A 2500 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGATGAGACACCCCCTACATC 0.622 10 70 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62283898 62283898 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:62283898delT ENST00000261517.5 - 17 1530 c.1457delA c.(1456-1458)aagfs p.K486fs VPS13C_ENST00000395898.3_Frame_Shift_Del_p.K443fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.K443fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.K486fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 486 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTCTTCGTCCTTTTTCTTAGA 0.373 33 165 --- --- --- --- IQCH 64799 broad.mit.edu 37 15 67681233 67681234 + Frame_Shift_Ins INS - - A rs138548169 byFrequency TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:67681233_67681234insA ENST00000335894.4 + 12 1587_1588 c.1521_1522insA c.(1522-1524)aaafs p.K508fs IQCH_ENST00000546225.1_Frame_Shift_Ins_p.K256fs|IQCH_ENST00000358767.3_Frame_Shift_Ins_p.K335fs|IQCH_ENST00000360277.4_Frame_Shift_Ins_p.K260fs NM_001031715.2 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H 508 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TGCTGTATTACAAAAAAATCCT 0.406 17 55 --- --- --- --- FANCI 55215 broad.mit.edu 37 15 89850742 89850742 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:89850742delA ENST00000310775.7 + 33 3659 c.3573delA c.(3571-3573)ccafs p.P1191fs FANCI_ENST00000300027.8_Frame_Shift_Del_p.P1131fs NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 1191 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GAGGAATTCCAAAAAATATGG 0.423 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 51 --- --- --- --- LOC440311 440311 broad.mit.edu 37 15 95399991 95399991 + RNA DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr15:95399991delC ENST00000602330.1 - 0 249 CAGACTCGCTCAGGACCCTGA 0.622 2 4 --- --- --- --- RP11-652G5.1 0 broad.mit.edu 37 16 32616500 32616500 + RNA DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:32616500delT ENST00000562976.1 + 0 304 GCAGAAAGAATTTTTTTAGGG 0.363 2 4 --- --- --- --- snoU13 0 broad.mit.edu 37 16 53368511 53368512 + RNA DEL CA CA - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr16:53368511_53368512delCA ENST00000459097.1 + 0 38_39 attgggtgttcacacacatatg 0.351 10 48 --- --- --- --- SLC16A11 162515 broad.mit.edu 37 17 6945674 6945674 + Frame_Shift_Del DEL C C - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:6945674delC ENST00000308009.1 - 3 1164 c.827delG c.(826-828)ggafs p.G276fs SLC16A11_ENST00000447225.1_Frame_Shift_Del_p.G252fs NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 276 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 TGCTCCGTATCCCCCCAGGCC 0.682 2 4 --- --- --- --- LOC101927060 101927060 broad.mit.edu 37 17 45128651 45128652 + RNA INS - - T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:45128651_45128652insT ENST00000575173.1 - 0 418 ttgtttttttgttttttttAGC 0.297 12 108 --- --- --- --- LOC101927755 101927755 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 4 8 --- --- --- --- GPRC5C 55890 broad.mit.edu 37 17 72436470 72436470 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:72436470delG ENST00000392627.1 + 2 1816 c.690delG c.(688-690)gagfs p.E230fs GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Frame_Shift_Del_p.E197fs NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 185 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GCAGTGGCGAGGGCGGCCCTC 0.617 14 42 --- --- --- --- CCDC137 339230 broad.mit.edu 37 17 79634764 79634766 + In_Frame_Del DEL AGA AGA - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr17:79634764_79634766delAGA ENST00000329214.8 + 2 543_545 c.140_142delAGA c.(139-144)gagaag>gag p.K50del NM_199287.2 NP_954981.1 Q6PK04 CC137_HUMAN coiled-coil domain containing 137 50 NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2) 12 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CCCAGCAAAGAGAAGAAGAAAGT 0.488 20 40 --- --- --- --- SOGA2 23255 broad.mit.edu 37 18 8793003 8793004 + Frame_Shift_Ins INS - - C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr18:8793003_8793004insC ENST00000359865.3 + 8 2037_2038 c.1895_1896insC c.(1894-1899)ggccccfs p.GP632fs SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000517570.1_Intron NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 980 p.G632A(1) CAGCTCAGGGGCCCCCCCGTTT 0.554 19 131 --- --- --- --- SLC25A41 284427 broad.mit.edu 37 19 6433605 6433605 + Frame_Shift_Del DEL G G - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:6433605delG ENST00000321510.6 - 1 168 c.100delC c.(100-102)caafs p.Q34fs NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 34 Pro-rich. transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 ggcggaggttgggggggaggc 0.577 12 41 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941839 13941839 + Frame_Shift_Del DEL T T - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:13941839delT ENST00000254323.2 + 13 3134 c.2945delT c.(2944-2946)cttfs p.L983fs ZSWIM4_ENST00000440752.2_Frame_Shift_Del_p.L817fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 983 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) AAACTCATGCTTTTGGTGCGG 0.612 11 50 --- --- --- --- DCAF15 90379 broad.mit.edu 37 19 14069917 14069918 + Frame_Shift_Ins INS - - C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:14069917_14069918insC ENST00000254337.6 + 7 866_867 c.845_846insC c.(844-849)agccccfs p.SP282fs NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 282 p.E285fs*1(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 GCGCCTGCCAGCCCCCCTGAGC 0.663 10 46 --- --- --- --- ZNF616 90317 broad.mit.edu 37 19 52618226 52618226 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr19:52618226delA ENST00000600228.1 - 4 2452 c.2191delT c.(2191-2193)tccfs p.S731fs ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 731 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TTGCTGAGGGAAAACAACCGC 0.398 23 120 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10639116 10639117 + Splice_Site DEL CT CT - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:10639116_10639117delCT ENST00000254958.5 - 4 1208_1209 c.693_694delAG c.(691-696)agagct>agct p.RA231fs JAG1_ENST00000423891.2_Splice_Site_p.RA72fs NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 231 EGF-like 1. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ACACACATACCTCTGTTACATT 0.535 Alagille Syndrome 14 90 --- --- --- --- MACROD2 140733 broad.mit.edu 37 20 16030476 16030477 + Splice_Site INS - - G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr20:16030476_16030477insG ENST00000217246.4 + 17 1628_1629 c.1233_1234insG c.(1234-1236)ggg>Gggg p.G412fs MACROD2_ENST00000407045.3_Splice_Site|MACROD2_ENST00000378058.3_Splice_Site_p.G200fs|MACROD2_ENST00000310348.4_Splice_Site_p.G435fs|MACROD2_ENST00000402914.1_Splice_Site_p.G200fs NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 435 breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TGTCTTCAGCAGGGGCACAAGA 0.431 10 39 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)cccgaafs p.E1093fs NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1093 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1093K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 27 114 --- --- --- --- CCDC116 164592 broad.mit.edu 37 22 21989445 21989446 + Frame_Shift_Ins INS - - C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:21989445_21989446insC ENST00000292779.3 + 4 1254_1255 c.1093_1094insC c.(1093-1095)tccfs p.S365fs CCDC116_ENST00000607942.1_Frame_Shift_Ins_p.S365fs NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 365 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) GCCCTATGCTTCCCCCCGCCCC 0.634 7 27 --- --- --- --- ADRBK2 157 broad.mit.edu 37 22 26117308 26117308 + Frame_Shift_Del DEL A A - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chr22:26117308delA ENST00000324198.6 + 20 2041 c.1849delA c.(1849-1851)aaafs p.K618fs NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 PH. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) AATTAAAGACAAAAAATGCAT 0.269 15 70 --- --- --- --- MID1 4281 broad.mit.edu 37 X 10417614 10417614 + Frame_Shift_Del DEL G G - rs1802191 TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:10417614delG ENST00000317552.4 - 10 2198 c.1798delC c.(1798-1800)cacfs p.H600fs MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Frame_Shift_Del_p.H600fs|MID1_ENST00000380787.1_Frame_Shift_Del_p.H600fs|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Frame_Shift_Del_p.H600fs|MID1_ENST00000380780.1_Frame_Shift_Del_p.H600fs|MID1_ENST00000380785.1_Frame_Shift_Del_p.H600fs NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 600 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 CGCCGGAGGTGGGGGGCAGGC 0.542 14 31 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119669705 119669706 + Frame_Shift_Del DEL AC AC - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28d8a3b3-5241-4596-9711-7327780245a8 7bf15a68-13ce-4b7e-9d6e-d0d8bc8eed4f g.chrX:119669705_119669706delAC ENST00000371322.5 - 16 2200_2201 c.2139_2140delGT c.(2137-2142)gtgttafs p.L714fs CUL4B_ENST00000404115.3_Frame_Shift_Del_p.L732fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.L719fs NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 732 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCTGCTTTTAACACACAGTGTC 0.356 22 64 --- --- --- ---