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 FRMD4A 55691 broad.mit.edu 37 10 13736001 13736001 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:13736001G>A ENST00000357447.2 - 15 1382 c.1014C>T c.(1012-1014)gcC>gcT p.A338A FRMD4A_ENST00000342409.2_Silent_p.A354A|FRMD4A_ENST00000358621.4_Silent_p.A323A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.A338A NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 338 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TCAGGTCGATGGCGATCTCAC 0.572000 39 219 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73061360 73061360 + RNA SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:73061360T>C ENST00000429829.1 - 0 11228 NR_001564.2 ACTGCTGTTGTGATGACTAGT 0.423000 39 358 0 0 1 0 0 USP29 0 broad.mit.edu 37 19 57641566 57641566 + Missense_Mutation SNP T T A rs145552693 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:57641566T>A ENST00000254181.4 + 4 1977 c.1523T>A c.(1522-1524)aTc>aAc p.I508N USP29_ENST00000598197.1_Missense_Mutation_p.I508N NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 508 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGGTCCTTATCATTCATCTG 0.368000 5 434 0 0 1 0 0 IFT140 9742 broad.mit.edu 37 16 1633329 1633329 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:1633329G>A ENST00000426508.2 - 12 1781 c.1418C>T c.(1417-1419)gCg>gTg p.A473V LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 473 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) ACTCCGTATCGCGGCTCCAGA 0.567000 5 185 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33895400 33895400 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:33895400G>A ENST00000389232.4 + 18 2069 c.1999G>A c.(1999-2001)Gac>Aac p.D667N RYR3_ENST00000415757.3_Missense_Mutation_p.D667N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 667 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTGATTATCGACCAGGTGGA 0.567000 37 533 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 8 79 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7965572 7965572 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:7965572G>A ENST00000306708.6 + 3 2266 c.2165G>A c.(2164-2166)cGc>cAc p.R722H AC010336.1_ENST00000539278.1_5'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 722 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 TTCTTCTGCCGCAAGCTGCGG 0.657000 5 245 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11725368 11725368 + Nonsense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:11725368C>T ENST00000262442.3 + 46 8907 c.8839C>T c.(8839-8841)Cga>Tga p.R2947* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R2947* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2947 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCGGATCCGGCGACAGCTGAA 0.463000 17 130 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 7 243 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99551638 99551638 + Missense_Mutation SNP C C G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:99551638C>G ENST00000373034.4 - 6 4759 c.3084G>C c.(3082-3084)gaG>gaC p.E1028D PCDH19_ENST00000420881.2_Missense_Mutation_p.E980D|PCDH19_ENST00000255531.7_Missense_Mutation_p.E981D NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1028 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TAGGCCTCTCCTCAGCCGGGT 0.577000 9 232 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 6 721 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52257685 52257685 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:52257685C>T ENST00000597542.1 - 9 1676 c.719G>A c.(718-720)cGc>cAc p.R240H TLR9_ENST00000360658.2_Missense_Mutation_p.R216H|TLR9_ENST00000494383.1_Silent_p.P369P Q9NR96 TLR9_HUMAN toll-like receptor 9 216 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity p.R216H(1) endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGGCAGGTTGCGGGGCACCAC 0.632000 6 120 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106229348 106229348 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:106229348G>A ENST00000355610.4 - 4 665 c.391C>T c.(391-393)Cgg>Tgg p.R131W MORC4_ENST00000255495.7_Missense_Mutation_p.R131W|MORC4_ENST00000535534.1_Intron NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 131 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 TTTCCTAGCCGCATGGAGCCT 0.473000 11 667 0 0 1 0 0 FRMPD4 9758 broad.mit.edu 37 X 12704277 12704277 + Missense_Mutation SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:12704277A>G ENST00000380682.1 + 7 1141 c.635A>G c.(634-636)aAt>aGt p.N212S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 212 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TATCTGGAAAATGGGCAGACC 0.398000 10 365 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279833 46279833 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr20:46279833G>A ENST00000372004.3 + 20 3963 c.3747G>A c.(3745-3747)caG>caA p.Q1249Q NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1253 Acetyltransferase.|Poly-Gln. Missing. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcaacagcagc 0.547000 5 235 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 250 0 0 1 0 0 PLXNC1 10154 broad.mit.edu 37 12 94641698 94641698 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:94641698C>T ENST00000258526.4 + 13 2657 c.2408C>T c.(2407-2409)gCg>gTg p.A803V NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 803 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TATTGTGTGGCGACTTACTGC 0.428000 26 584 0 0 1 0 0 MOK 5891 broad.mit.edu 37 14 102698927 102698927 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr14:102698927C>T ENST00000361847.2 - 9 1042 c.811G>A c.(811-813)Gat>Aat p.D271N MOK_ENST00000522867.1_Silent_p.P3P|MOK_ENST00000524370.1_Silent_p.P3P|MOK_ENST00000517966.1_Silent_p.P3P|MOK_ENST00000561150.1_Silent_p.P3P|MOK_ENST00000522534.1_Silent_p.P3P|MOK_ENST00000524214.1_Missense_Mutation_p.D241N|MOK_ENST00000523231.1_Silent_p.P3P|MOK_ENST00000522874.1_Missense_Mutation_p.D270N|MOK_ENST00000519058.1_Silent_p.P3P|MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Missense_Mutation_p.D37N NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 271 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding p.D271N(1) ATTCTCTCATCGGGATCATAG 0.542000 34 416 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154134766 154134766 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:154134766G>A ENST00000360256.4 - 15 5502 c.5302C>T c.(5302-5304)Cgt>Tgt p.R1768C NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1768 F5/8 type A 3.|Plastocyanin-like 5. R -> H (in HEMA). 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) AGTTCTCCACGGTATAAGGGC 0.423000 33 563 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19838947 19838947 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr5:19838947C>T ENST00000507958.1 - 5 1139 c.149G>A c.(148-150)cGt>cAt p.R50H CDH18_ENST00000506372.1_Missense_Mutation_p.R50H|CDH18_ENST00000511273.1_Missense_Mutation_p.R50H|CDH18_ENST00000502796.1_Missense_Mutation_p.R50H|CDH18_ENST00000382275.1_Missense_Mutation_p.R50H|CDH18_ENST00000274170.4_Missense_Mutation_p.R50H Q13634 CAD18_HUMAN cadherin 18, type 2 50 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCTTTTGGGACGATGATGGAC 0.418000 24 284 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 4 158 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11193143 11193143 + Missense_Mutation SNP C C G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:11193143C>G ENST00000361445.4 - 38 5434 c.5358G>C c.(5356-5358)tgG>tgC p.W1786C MTOR_ENST00000495435.1_5'UTR NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1786 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCACCTTGTACCAGCTGCGGT 0.577000 33 388 0 0 1 0 0 GOLGA8F 0 broad.mit.edu 37 15 28632820 28632820 + Missense_Mutation SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:28632820T>C ENST00000526619.2 + 14 1761 c.746T>C c.(745-747)cTg>cCg p.L249P GOLGA8F_ENST00000337838.7_Intron|GOLGA8F_ENST00000532622.2_Missense_Mutation_p.L463P|GOLGA8F_ENST00000450328.2_Missense_Mutation_p.L245P lung(4) 4 CCACAGGACCTGGAGAGCAGG 0.617000 6 215 0 0 1 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090249 115090249 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr13:115090249C>T ENST00000361283.1 + 3 1241 c.932C>T c.(931-933)tCt>tTt p.S311F NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 311 Mediates interaction with MAD2L2.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding TCACCAGGCTCTTGGAAACCA 0.582000 6 176 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34663857 34663857 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:34663857C>T ENST00000374789.3 - 11 1938 c.1613G>A c.(1612-1614)gGa>gAa p.G538E PARD3_ENST00000374776.1_Missense_Mutation_p.G538E|PARD3_ENST00000545693.1_Missense_Mutation_p.G538E|PARD3_ENST00000545260.1_Missense_Mutation_p.G494E|PARD3_ENST00000374773.1_Missense_Mutation_p.G538E|PARD3_ENST00000374790.3_Missense_Mutation_p.G494E|PARD3_ENST00000374794.3_Missense_Mutation_p.G494E|PARD3_ENST00000374788.3_Missense_Mutation_p.G538E|PARD3_ENST00000350537.4_Missense_Mutation_p.G538E|PARD3_ENST00000340077.5_Missense_Mutation_p.G538E|PARD3_ENST00000544292.1_Missense_Mutation_p.G268E|PARD3_ENST00000346874.4_Missense_Mutation_p.G538E NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 538 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GCTCACAGTTCCTTCCATCTT 0.438000 7 530 0 0 1 0 0 TMLHE 55217 broad.mit.edu 37 X 154741370 154741370 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:154741370C>T ENST00000334398.3 - 5 867 c.722G>A c.(721-723)cGg>cAg p.R241Q TMLHE_ENST00000369439.4_Missense_Mutation_p.R241Q|TMLHE-AS1_ENST00000452506.1_RNA NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 241 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) GTCAGTGTGCCGATCCAGAGC 0.413000 7 526 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2742Q(2) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacagcagcagcagc 0.597000 7 163 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 6 286 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98533290 98533290 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr7:98533290C>T ENST00000359863.4 + 28 4312 c.4103C>T c.(4102-4104)gCg>gTg p.A1368V TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1368 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTACGAATTGCGGCATTAAGT 0.393000 5 229 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628320 29628320 + Nonsense_Mutation SNP G G T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr20:29628320G>T ENST00000278882.3 + 6 702 c.322G>T c.(322-324)Gaa>Taa p.E108* FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGGAGAAGAAGAAATGATCAA 0.373000 10 253 0.00010058 0.00010269 1 1 0 SDHAP1 0 broad.mit.edu 37 3 195692349 195692349 + RNA SNP T T A rs139762755 by1000genomes TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:195692349T>A ENST00000427841.1 - 0 2153 NR_003264.2 CCTCCAGTGCTCCTCAAAGGG 0.572000 5 54 0 0 1 0 0 DHX58 79132 broad.mit.edu 37 17 40260081 40260081 + Missense_Mutation SNP C C A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:40260081C>A ENST00000251642.3 - 7 946 c.724G>T c.(724-726)Gac>Tac p.D242Y NM_024119.2 NP_077024.2 Q96C10 DHX58_HUMAN DEXH (Asp-Glu-X-His) box polypeptide 58 242 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCCAGGTGGTCATGGATTTGG 0.557000 8 370 3.86212e-05 3.99907e-05 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205094 23205094 + RNA SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:23205094G>A ENST00000400153.2 - 0 760 NR_003521.1 AGTACTGGAAGAACGTGGTTG 0.373000 5 57 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 6 713 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 6 464 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66979885 66979885 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:66979885G>A ENST00000340001.4 - 36 4816 c.4605C>T c.(4603-4605)atC>atT p.I1535I ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.I1497I NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1535 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) AAAGCCTCAGGATCTCTGCAT 0.463000 47 286 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167056341 167056341 + Missense_Mutation SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:167056341A>G ENST00000375387.4 - 27 5151 c.4811T>C c.(4810-4812)tTt>tCt p.F1604S AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1592S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1603S|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1604S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1603 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AGGGGACACAAAATACGTTTC 0.423000 42 371 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108214765 108214765 + Nonsense_Mutation SNP A A T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr6:108214765A>T ENST00000369002.4 - 16 1774 c.1595T>A c.(1594-1596)tTa>tAa p.L532* NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 532 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.L532*(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTTTTTTTTAAAGGTTTCTT 0.368000 10 400 0 0 1 0 0 FBXO11 80204 broad.mit.edu 37 2 48066031 48066031 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:48066031C>T ENST00000403359.3 - 4 626 c.554G>A c.(553-555)cGc>cAc p.R185H FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.R101H|FBXO11_ENST00000378314.3_Missense_Mutation_p.R67H|FBXO11_ENST00000316377.4_Missense_Mutation_p.R101H NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 185 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCACTGAAGCGTTTACATAC 0.363000 """Mis, F, D""" DLBCL 33 226 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 6 369 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3188890 3188890 + Silent SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr18:3188890C>T ENST00000356443.4 - 4 960 c.627G>A c.(625-627)acG>acA p.T209T MYOM1_ENST00000400569.3_Silent_p.T209T|MYOM1_ENST00000261606.7_Silent_p.T209T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 209 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T209T(1) 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 GCCTGGATGCCGTGGACTGCT 0.522000 5 337 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 5 300 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 7 574 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112998688 112998688 + Nonsense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:112998688C>T ENST00000495514.1 + 13 2742 c.2038C>T c.(2038-2040)Cga>Tga p.R680* BOC_ENST00000355385.3_Nonsense_Mutation_p.R680*|BOC_ENST00000273395.4_Nonsense_Mutation_p.R681* Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 680 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CTACAAGTTTCGAGTCCGGGC 0.622000 25 431 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3704600 3704600 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:3704600G>A ENST00000324932.7 - 30 5168 c.4748C>T c.(4747-4749)gCt>gTt p.A1583V NUP98_ENST00000355260.3_Missense_Mutation_p.A1509V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1509V NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1600 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGTCTCTTTAGCCCAAGATTC 0.512000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 22 348 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65210050 65210050 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr14:65210050C>T ENST00000247226.7 + 15 3429 c.3121C>T c.(3121-3123)Cgc>Tgc p.R1041C PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R602C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R630C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1097C NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 1097 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CAGGGTGGGCCGCTGCCGCAG 0.731000 9 101 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103840 168103840 + Missense_Mutation SNP A A C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:168103840A>C ENST00000409195.1 + 9 6027 c.5938A>C c.(5938-5940)Aag>Cag p.K1980Q XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1758Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1980Q|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1805 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 TCTTCAGCCAAAGCCAGGTCC 0.468000 15 220 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263229 34263229 + Missense_Mutation SNP G G A rs141411970 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:34263229G>A ENST00000262622.3 + 4 1294 c.536G>A c.(535-537)cGc>cAc p.R179H CHST8_ENST00000438847.2_Missense_Mutation_p.R179H|CHST8_ENST00000434302.1_Missense_Mutation_p.R179H NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 179 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GTCACGCCCCGCCACGTGTCC 0.697000 7 176 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50857681 50857681 + Splice_Site SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:50857681C>T ENST00000395562.2 + 11 1733 c.1265_splice c.e11+1 p.R422_splice CHAT_ENST00000351556.3_Splice_Site_p.R386_splice|CHAT_ENST00000455728.2_Splice_Site_p.R386_splice|CHAT_ENST00000337653.2_Splice_Site_p.R504_splice|CHAT_ENST00000339797.1_Splice_Site_p.R386_splice|CHAT_ENST00000395559.2_Splice_Site_p.R386_splice NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 504 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AAAACTTCAACGGTAAGGATA 0.602000 37 262 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75564081 75564081 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:75564081G>A ENST00000336257.3 - 3 1596 c.202C>T c.(202-204)Ctg>Ttg p.L68L RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.L74L NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 68 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 CACGAGGACAGCACCAGCACG 0.662000 5 247 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66979974 66979974 + Nonsense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:66979974G>A ENST00000340001.4 - 36 4727 c.4516C>T c.(4516-4518)Caa>Taa p.Q1506* ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1468* NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1506 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTCAGGTGTTGGATGGAACCA 0.448000 29 259 0 0 1 0 0 LSR 51599 broad.mit.edu 37 19 35753531 35753531 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:35753531G>A ENST00000602122.1 + 4 1288 c.801G>A c.(799-801)ccG>ccA p.P267P LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Silent_p.P286P|LSR_ENST00000347609.4_Silent_p.P249P|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Silent_p.P267P|LSR_ENST00000360798.3_Intron Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 286 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) AGTGCTGCCCGCACACTTGCT 0.622000 6 420 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130649223 130649223 + Missense_Mutation SNP C C A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:130649223C>A ENST00000229030.4 + 1 2220 c.1736C>A c.(1735-1737)aCc>aAc p.T579N FZD10_ENST00000539839.1_3'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 579 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CAGTCGCCCACCTGCGTGTGA 0.527000 4 96 0.00909568 0.00922201 1 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296599 39296599 + Silent SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:39296599T>C ENST00000345847.4 - 1 140 c.141A>G c.(139-141)agA>agG p.R47R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 47 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCACTGGGGTCTGCAGCAGC 0.682000 5 277 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 5 324 0 0 1 0 0 ALS2CR12 130540 broad.mit.edu 37 2 202172323 202172323 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:202172323G>A ENST00000405148.2 - 11 1241 c.798C>T c.(796-798)ttC>ttT p.F266F ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F NM_139163.2 NP_631902.2 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 266 regulation of GTPase activity protein binding p.F266F(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2) 21 ACTCCATTTCGAATTTTTTGG 0.383000 26 462 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154018839 154018839 + Missense_Mutation SNP T T A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:154018839T>A ENST00000496811.1 - 10 1375 c.1295A>T c.(1294-1296)aAa>aTa p.K432I DHX36_ENST00000544526.1_Missense_Mutation_p.K432I|DHX36_ENST00000329463.5_Missense_Mutation_p.K432I|DHX36_ENST00000308361.6_Missense_Mutation_p.K432I NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 432 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTTCTTCTTTTTCTTGTCT 0.353000 59 402 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 5 52 3.59834e-05 3.77955e-05 1 1 0 CCDC8 83987 broad.mit.edu 37 19 46914994 46914994 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:46914994G>A ENST00000307522.3 - 1 1847 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 358 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGGTTATCTGCAG 0.587000 9 703 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28710559 28710559 + Missense_Mutation SNP C C G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr18:28710559C>G ENST00000257198.5 - 16 2864 c.2603G>C c.(2602-2604)cGg>cCg p.R868P DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 868 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTCTTCCTGCCGATCGCTGCA 0.438000 36 495 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113661000 113661000 + RNA SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:113661000G>A ENST00000393544.2 + 0 1048 AGACACCTTCGAATTAAGCAC 0.572000 20 93 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654596 31654596 + Nonsense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr21:31654596G>A ENST00000340345.4 - 1 680 c.655C>T c.(655-657)Cga>Tga p.R219* NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 219 6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK]. keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 CTCAGTGGTCGGCAGCTCGTA 0.443000 14 405 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 28 156 0 0 1 0 0 IL17C 27189 broad.mit.edu 37 16 88706390 88706390 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:88706390G>A ENST00000244241.4 + 3 553 c.504G>A c.(502-504)tcG>tcA p.S168S NM_013278.3 NP_037410.1 Q9P0M4 IL17C_HUMAN interleukin 17C 168 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity large_intestine(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0477) GCGACGGCTCGGGGCTCCCCA 0.716000 18 282 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 4 95 0 0 1 0 0 AC097374.2 0 broad.mit.edu 37 2 95558407 95558407 + RNA SNP A A G rs5006801 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:95558407A>G ENST00000568768.1 - 0 476 CTCAAAACAGAATGCATCTGG 0.463000 3 53 0 0 1 0 0 MYCN 4613 broad.mit.edu 37 2 16086019 16086019 + Missense_Mutation SNP T T A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:16086019T>A ENST00000281043.3 + 3 1492 c.1195T>A c.(1195-1197)Tcc>Acc p.S399T NM_005378.4 NP_005369.2 P04198 MYCN_HUMAN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 399 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) CGACCTTCGGTCCAGCTTTCT 0.562000 A neuroblastoma 50 441 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2162878 2162878 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:2162878G>A ENST00000262304.4 - 13 3280 c.3072C>T c.(3070-3072)gtC>gtT p.V1024V RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.V1024V NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 1024 PKD 5. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCACTGTGGAGACCTGCAGAC 0.642000 12 156 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38320039 38320039 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:38320039C>T ENST00000264645.7 + 7 1317 c.1091C>T c.(1090-1092)cCa>cTa p.P364L NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 364 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 GATCCATCTCCAGAAGCAGAT 0.587000 33 731 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118982297 118982297 + Missense_Mutation SNP C C A rs140133210 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:118982297C>A ENST00000336702.3 + 7 1336 c.977C>A c.(976-978)gCg>gAg p.A326E C2CD2L_ENST00000528586.1_Missense_Mutation_p.A74E NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 326 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 ACCAAGCCCGCGAGGGCTGGA 0.562000 4 152 1 1 1 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43659338 43659338 + Silent SNP C C T rs78146682 by1000genomes TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:43659338C>T ENST00000374466.3 + 5 1340 c.1005C>T c.(1003-1005)acC>acT p.T335T NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 335 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding p.T335T(3) endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACAATTACACCTTGGTCTCAT 0.403000 4 188 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45233480 45233480 + Silent SNP C C T rs146943650 byFrequency TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:45233480C>T ENST00000303077.6 - 2 1024 c.705G>A c.(703-705)ccG>ccA p.P235P NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 235 nucleus sequence-specific DNA binding transcription factor activity p.P235P(1) endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CAGGGGGCGGCGGGCTGAGGA 0.706000 16 287 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 71 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 95034762 95034762 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr13:95034762C>T ENST00000377047.4 + 7 1862 c.1247C>T c.(1246-1248)aCg>aTg p.T416M NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 416 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) ACAGCGGGCACGTCCAACGAG 0.537000 34 307 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 5 368 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 440 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41029282 41029282 + Nonsense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:41029282C>T ENST00000324545.7 + 19 3304 c.2671C>T c.(2671-2673)Cga>Tga p.R891* USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891* NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 891 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TTTTGTAGTTCGATTTCCAAA 0.408000 39 547 0 0 1 0 0 SRSF1 6426 broad.mit.edu 37 17 56083794 56083794 + Missense_Mutation SNP G G C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:56083794G>C ENST00000582730.2 - 2 412 c.289C>G c.(289-291)Cga>Gga p.R97G SRSF1_ENST00000258962.4_Missense_Mutation_p.R97G|SRSF1_ENST00000584773.1_Missense_Mutation_p.R97G|SRSF1_ENST00000585096.1_Intron NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 97 Gly-rich (hinge region). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCGCCGCCTCGGCCTGTTCCA 0.652000 16 110 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633889 39633889 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:39633889G>A ENST00000246639.2 - 6 1143 c.1011C>T c.(1009-1011)gcC>gcT p.A337A KRT35_ENST00000393989.1_Silent_p.A367A Q92764 KRT35_HUMAN keratin 35 367 Coil 2.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity p.A367A(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCCGGATCTCGGCCAGCTGGG 0.647000 5 290 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52829637 52829637 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:52829637G>A ENST00000449956.2 + 2 118 c.112G>A c.(112-114)Ggg>Agg p.G38R ITIH3_ENST00000416872.2_Missense_Mutation_p.G38R NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 38 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCTCCCGGAAGGGGTAAGAAC 0.567000 12 56 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146651096 146651096 + RNA SNP G G C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:146651096G>C ENST00000607149.1 + 0 350 GAAATATGAAGGTGGCCATGA 0.403000 33 162 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29994551 29994551 + Silent SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:29994551A>G ENST00000308893.4 + 12 2201 c.1158A>G c.(1156-1158)gaA>gaG p.E386E TAOK2_ENST00000416441.2_Silent_p.E213E|TAOK2_ENST00000279394.3_Silent_p.E386E|TAOK2_ENST00000543033.1_Silent_p.E386E NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 386 Glu-rich. 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 breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 aggaggaggaagaggaggagg 0.612000 4 123 0 0 1 0 0 TRIM17 51127 broad.mit.edu 37 1 228596786 228596786 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:228596786C>T ENST00000456946.2 - 6 1345 c.970G>A c.(970-972)Ggg>Agg p.G324R TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA NM_001134855.1 NP_001128327.1 Q9Y577 TRI17_HUMAN tripartite motif containing 17 0 B30.2/SPRY. protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GAACCCCCCCCATTGGTGGCT 0.577000 7 161 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141533746 141533746 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:141533746G>A ENST00000389484.3 - 33 6392 c.5421C>T c.(5419-5421)gaC>gaT p.D1807D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1807 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTTTCTTCCGTCTCTTTTGC 0.383000 TSP Lung(27;0.18) 30 203 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 533 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 22 154 2.27525e-19 2.44255e-19 1 1 0 MATR3 9782 broad.mit.edu 37 5 138643724 138643724 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr5:138643724G>A ENST00000394800.2 + 6 1169 c.620G>A c.(619-621)cGt>cAt p.R207H MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H|MATR3_ENST00000394805.3_Missense_Mutation_p.R207H|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H P43243 MATR3_HUMAN matrin 3 207 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CATGGAAGTCGTTCTCAAGAA 0.403000 5 249 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64388822 64388822 + Silent SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr7:64388822A>G ENST00000476120.1 + 4 1187 c.1116A>G c.(1114-1116)aaA>aaG p.K372K ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K307K NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K372K(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) CTGGAGAGAAACCCTACAAAT 0.383000 5 412 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105150491 105150491 + Missense_Mutation SNP C C G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:105150491C>G ENST00000428173.2 + 11 1233 c.930C>G c.(928-930)caC>caG p.H310Q NRK_ENST00000243300.9_Missense_Mutation_p.H310Q Q7Z2Y5 NRK_HUMAN Nik related kinase 310 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TGCTTCAACACCCATTTGTTC 0.343000 HNSCC(51;0.14) 6 82 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 365 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33464075 33464075 + Missense_Mutation SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr9:33464075C>T ENST00000379471.2 - 22 2951 c.2864G>A c.(2863-2865)cGc>cAc p.R955H NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 955 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.R955H(1) endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) AGAGTTTTTGCGGTCTTGGGG 0.567000 6 540 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81650502 81650502 + Missense_Mutation SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:81650502A>G ENST00000558726.1 - 7 866 c.731T>C c.(730-732)aTt>aCt p.I244T TMC3_ENST00000359440.5_Missense_Mutation_p.I244T|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 244 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TTTTAAAAGAATGATGAAGCT 0.408000 5 127 0 0 1 0 0 ITFG2 55846 broad.mit.edu 37 12 2929953 2929953 + Missense_Mutation SNP G G T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:2929953G>T ENST00000228799.2 + 6 749 c.610G>T c.(610-612)Ggt>Tgt p.G204C ITFG2_ENST00000419778.2_Missense_Mutation_p.G27C|ITFG2_ENST00000542548.1_Missense_Mutation_p.G92C NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 204 central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GTCTCAGCCAGGTTGTGCGTA 0.562000 14 238 1.3612e-06 1.44011e-06 1 1 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 8 164 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30374829 30374829 + Silent SNP A A G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:30374829A>G ENST00000327564.7 + 9 2434 c.2373A>G c.(2371-2373)ttA>ttG p.L791L LRRC37B_ENST00000543378.2_Silent_p.L682L|LRRC37B_ENST00000584368.1_Silent_p.L725L|LRRC37B_ENST00000394713.3_Silent_p.L713L|LRRC37B_ENST00000341671.7_Silent_p.L764L Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 764 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) TGAAGATGTTACAAGCCCGGA 0.488000 64 585 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14006193 14006193 + Silent SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:14006193G>A ENST00000454313.1 - 3 256 c.198C>T c.(196-198)gcC>gcT p.A66A C19orf57_ENST00000346736.2_Silent_p.A66A|C19orf57_ENST00000591586.1_Silent_p.A66A|C19orf57_ENST00000586783.1_Silent_p.A66A Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 66 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) ACCTGGAGACGGCCTTTCCTG 0.562000 7 376 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 5 401 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65925454 65925454 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:65925454G>A ENST00000321892.4 + 19 6440 c.6379G>A c.(6379-6381)Gtt>Att p.V2127I BPTF_ENST00000306378.6_Missense_Mutation_p.V2001I|BPTF_ENST00000335221.5_Missense_Mutation_p.V2127I|BPTF_ENST00000424123.3_Missense_Mutation_p.V1988I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2127 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTTTAAGGCGTTGTTCAAGT 0.433000 12 233 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34971545 34971545 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr9:34971545G>A ENST00000242315.3 + 2 332 c.250G>A c.(250-252)Gat>Aat p.D84N KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.D84N NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 84 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GCGGCTCCGAGATGGGCGCGG 0.632000 26 435 0 0 1 0 0 RRAS 6237 broad.mit.edu 37 19 50140130 50140130 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:50140130G>A ENST00000246792.3 - 3 397 c.295C>T c.(295-297)Cgt>Tgt p.R99C NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 99 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) TGGCCAGCACGCATGTACTGC 0.662000 5 254 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154018849 154018849 + Missense_Mutation SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:154018849T>C ENST00000496811.1 - 10 1365 c.1285A>G c.(1285-1287)Aga>Gga p.R429G DHX36_ENST00000544526.1_Missense_Mutation_p.R429G|DHX36_ENST00000329463.5_Missense_Mutation_p.R429G|DHX36_ENST00000308361.6_Missense_Mutation_p.R429G NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 429 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTTCTTGTCTATTTACATGC 0.343000 58 386 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119024778 119024778 + Missense_Mutation SNP G G A rs145297995 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:119024778G>A ENST00000307417.3 + 3 645 c.281G>A c.(280-282)cGc>cAc p.R94H ABCG4_ENST00000449422.2_Missense_Mutation_p.R94H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R94H NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 94 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AAATTCTGCCGCCGGGAGCTG 0.527000 5 375 0 0 1 0 0 CYSLTR1 0 broad.mit.edu 37 X 77528527 77528527 + Silent SNP G G T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:77528527G>T ENST00000373304.3 - 3 1009 c.717C>A c.(715-717)acC>acA p.T239T NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 239 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AAAAGGCAGCGGTCACGACCA 0.338000 12 319 1.41608e-15 1.5091e-15 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 6 35 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 6 684 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74104815 74104815 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr6:74104815G>A ENST00000370336.4 + 1 345 c.187G>A c.(187-189)Gct>Act p.A63T DDX43_ENST00000539829.1_Missense_Mutation_p.A63T|OOEP_ENST00000370363.1_5'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 63 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 GGCCGTGGCCGCTGGTCACGA 0.617000 OREG0003900 type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 11 177 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15720986 15720986 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:15720986G>A ENST00000399451.2 - 22 2751 c.2384C>T c.(2383-2385)gCc>gTc p.A795V ANKRD28_ENST00000383777.1_Missense_Mutation_p.A828V|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 795 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 TACTTACACGGCACAATGCAA 0.378000 5 182 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34130000 34130000 + Missense_Mutation SNP C C A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:34130000C>A ENST00000389232.4 + 89 11889 c.11819C>A c.(11818-11820)tCc>tAc p.S3940Y RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3940 EF-hand. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAATTATCTCCAAAAAAGAA 0.398000 17 221 7.07596e-05 7.27528e-05 1 1 0 PYGL 5836 broad.mit.edu 37 14 51387719 51387719 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr14:51387719G>A ENST00000216392.7 - 6 1059 c.727C>T c.(727-729)Cgc>Tgc p.R243C PYGL_ENST00000532462.1_Missense_Mutation_p.R243C|PYGL_ENST00000544180.2_Missense_Mutation_p.R209C NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 243 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) GACCAGAGGCGCATGGTGTTG 0.498000 15 236 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 138 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121243763 121243763 + Missense_Mutation SNP G G A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr8:121243763G>A ENST00000297848.3 + 19 2525 c.2255G>A c.(2254-2256)cGg>cAg p.R752Q COL14A1_ENST00000247781.3_Missense_Mutation_p.R657Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.R752Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 752 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCTAGCCTGCGGGTAAAATGG 0.438000 11 240 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 414 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 15 850 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 8 303 --- --- --- --- LRRC41 10489 broad.mit.edu 37 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:46752129delA ENST00000343304.6 - 4 685 c.400delT c.(400-402)ccfs p.S134fs LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 134 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AGAACATGGGAAAAAAAGGCC 0.483 7 351 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 9 274 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:113181886_113181887insA ENST00000302558.3 - 2 264 c.e2-2 RGPD8_ENST00000330575.5_Splice_Site|RGPD8_ENST00000409750.1_Splice_Site NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CATTGACTTCTAAAAAAAAATT 0.252 8 463 --- --- --- --- COL5A2 1290 broad.mit.edu 37 2 189943835 189943836 + Splice_Site INS - - A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr2:189943835_189943836insA ENST00000374866.3 - 15 1235 c.e15-2 NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AGCTTCACCCTAAAAAAAAATG 0.381 14 268 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 8 17 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 7 9 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 269 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 8 214 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 8 218 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160143939 160143940 + Frame_Shift_Ins INS - - A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr3:160143939_160143940insA ENST00000357388.3 + 17 3007_3008 c.2556_2557insA c.(2554-2559)gaaaaafs p.EK852fs SMC4_ENST00000469762.1_Frame_Shift_Ins_p.EK827fs|SMC4_ENST00000462787.1_Frame_Shift_Ins_p.EK852fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Frame_Shift_Ins_p.EK852fs|SMC4_ENST00000360111.2_Frame_Shift_Ins_p.EK852fs NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 852 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAGCCCCTGACAAAAAAAAGCA 0.322 9 1176 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26417145 26417146 + Frame_Shift_Ins INS - - A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr4:26417145_26417146insA ENST00000342320.4 + 4 377_378 c.201_202insA c.(199-204)aaaaaafs p.KK67fs RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.KK81fs|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.KK46fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.KK68fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.KK67fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.KK66fs|RBPJ_ENST00000511401.1_3'UTR Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 81 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGATGGAAGAAAAAAAAAGA 0.371 7 594 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 201 --- --- --- --- LINC00575 0 broad.mit.edu 37 4 83540364 83540366 + RNA DEL AGC AGC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr4:83540364_83540366delAGC ENST00000426551.1 - 0 226 NR_024087.1 gagcgtggcaagcagcagcagca 0.502 2 4 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 8 283 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr5:16694606delC ENST00000513610.1 - 27 4128 c.3674delG c.(3673-3675)gcfs p.G1225fs MYO10_ENST00000274203.9_Frame_Shift_Del_p.G582fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.G564fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.G582fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.G564fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CGTGGAGGAGCCCCCCCCTTT 0.562 7 515 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 7 221 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 785 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327002 16327002 + Frame_Shift_Del DEL G G - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr6:16327002delG ENST00000244769.4 - 8 2476 c.1540delC c.(1540-1542)agfs p.Q514fs ATXN1_ENST00000436367.1_Frame_Shift_Del_p.Q514fs NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 514 Self-association. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GCAGCAAACTGGGGGGATGAC 0.657 7 648 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 10 635 --- --- --- --- SMAP1 60682 broad.mit.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr6:71508370delA ENST00000370455.3 + 6 754 c.506delA c.(505-507)gafs p.E169fs SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 169 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.K145fs*48(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 aaagaaaaggaaaaaaaaaag 0.289 7 59 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 9 379 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 12 84 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 13 44 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37791833 37791834 + Frame_Shift_Ins INS - - T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr8:37791833_37791834insT ENST00000307599.4 - 9 1342_1343 c.1243_1244insA c.(1243-1245)actfs p.T415fs NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 415 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TCCAATCAGTGTTTTTTTTTCC 0.371 12 386 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 11 194 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128753053 128753053 + Frame_Shift_Del DEL C C - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr8:128753053delC ENST00000377970.2 + 3 1724 c.1214delC c.(1213-1215)gcfs p.A405fs MYC_ENST00000524013.1_Frame_Shift_Del_p.A404fs NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 390 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.K392fs*2(1)|p.K407fs*2(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) AATGAAAAGGCCCCCAAGGTA 0.498 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" 7 1792 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 7 259 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 8 319 --- --- --- --- HNRNPF 3185 broad.mit.edu 37 10 43882173 43882174 + Frame_Shift_Ins INS - - C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:43882173_43882174insC ENST00000443950.2 - 3 1645_1646 c.1159_1160insG c.(1159-1161)cacfs p.H387fs HNRNPF_ENST00000356053.3_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000337970.3_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000544000.1_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000357065.4_Frame_Shift_Ins_p.H387fs NM_001098208.1 NP_001091678.1 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 387 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 ACTGTAAGTGGCCTGGGCAGCA 0.545 7 498 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 10 443 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 8 590 --- --- --- --- KRTAP5-1 387264 broad.mit.edu 37 11 1605880 1605882 + In_Frame_Del DEL GCC GCC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:1605880_1605882delGCC ENST00000382171.2 - 1 631_633 c.598_600delGGC c.(598-600)del p.G200del KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 200 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCCCCACAGCCGGAGCCACAA 0.665 8 279 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 7 487 --- --- --- --- TBC1D10C 374403 broad.mit.edu 37 11 67177151 67177152 + Frame_Shift_Ins INS - - C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:67177151_67177152insC ENST00000312390.5 + 10 1296_1297 c.1267_1268insC c.(1267-1269)ccgfs p.P423fs TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.P423fs NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 423 Interaction with calcineurin. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTGACTCGGGCCCGGGGCCCC 0.693 7 93 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 13 301 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 11 1092 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000539652.1_Intron NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 10 175 --- --- --- --- MLXIP 22877 broad.mit.edu 37 12 122623075 122623075 + Frame_Shift_Del DEL C C - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr12:122623075delC ENST00000319080.6 + 14 2493 c.2361delC c.(2359-2361)atfs p.I787fs MLXIP_ENST00000538698.1_Frame_Shift_Del_p.I394fs Q9HAP2 MLXIP_HUMAN MLX interacting protein 787 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GGGAGGAGATCGAGGAGCTCA 0.632 17 103 --- --- --- --- BRF1 2972 broad.mit.edu 37 14 105692436 105692437 + Frame_Shift_Ins INS - - G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr14:105692436_105692437insG ENST00000546474.1 - 10 15976_15977 c.1017_1018insC c.(1015-1020)gcagggfs p.G340fs BRF1_ENST00000551787.1_Intron|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.G102fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.G136fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.G313fs NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 340 AK -> R (in Ref. 1; AAC50170). positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) AGGCCCCCCTTGGCCTTTGGCC 0.470 7 411 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 8 668 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 10 29 --- --- --- --- RAB40C 57799 broad.mit.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:677579_677580insC ENST00000535977.1 + 7 1025_1026 c.803_804insC c.(802-804)accfs p.T268fs RAB40C_ENST00000538492.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000539661.1_Frame_Shift_Ins_p.T268fs|RAB40C_ENST00000248139.3_Frame_Shift_Ins_p.T268fs NM_001172663.1 NP_001166134.1 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 268 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding p.Q271fs*7(1) NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 6 Hepatocellular(780;0.0218) CCACCCCAGAGCCCCCCCCAGA 0.678 8 317 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 12 132 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 545 --- --- --- --- LRRC37A2 474170 broad.mit.edu 37 17 44627779 44627779 + Splice_Site DEL A A - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:44627779delA ENST00000576629.1 + 11 5199 c.e11-1 ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Splice_Site|ARL17A_ENST00000445552.2_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) TTTTTTTTTTAGCTCAAAAAA 0.328 7 877 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940454 65940456 + In_Frame_Del DEL CAC CAC - rs143937013 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr17:65940454_65940456delCAC ENST00000321892.4 + 22 7105_7107 c.7044_7046delCAC c.(7042-7047)agc>ag p.ST2348del BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2348 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACAGCCAGCACCACCACCACC 0.542 7 330 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 12 889 --- --- --- --- STK4 6789 broad.mit.edu 37 20 43623799 43623801 + In_Frame_Del DEL AAT AAT - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr20:43623799_43623801delAAT ENST00000372806.3 + 6 689_691 c.594_596delAAT c.(592-597)gat>ga p.EI198del STK4_ENST00000372801.1_In_Frame_Del_p.EI198del|STK4_ENST00000396731.4_In_Frame_Del_p.EI198del|STK4_ENST00000499879.2_In_Frame_Del_p.EI143del NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 198 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) TGATTCAGGAAATTGGATACAAC 0.448 22 466 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131536 17131537 + RNA INS - - CTG rs34452519 TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:17131536_17131537insCTG ENST00000426585.1 + 0 2562_2563 TGCCCACTCTTCTGGTCTCATG 0.540 7 22 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38120323 38120325 + In_Frame_Del DEL CCT CCT - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chr22:38120323_38120325delCCT ENST00000406386.3 + 7 2015_2017 c.1760_1762delCCT c.(1759-1764)gcc>g p.AS587del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 587 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAA 0.596 8 1059 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8c4cafb-cf40-4343-9fab-78b2e1914ad1 768e3081-1fbc-418f-9000-9721e854cc35 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 9 350 --- --- --- ---