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 TBC1D10B 26000 broad.mit.edu 37 16 30369853 30369853 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:30369853C>T ENST00000409939.3 - 9 1919 c.1839G>A c.(1837-1839)gaG>gaA p.E613E NM_015527.3 NP_056342.3 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 613 cytoplasm Rab GTPase activator activity endometrium(2)|kidney(1)|lung(2)|urinary_tract(1) 6 Colorectal(24;0.193) GGGCTGCATTCTCCCGCTCAA 0.637000 6 27 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140797757 140797757 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:140797757G>A ENST00000398594.2 + 1 331 c.331G>A c.(331-333)Gaa>Aaa p.E111K PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCTGTGGTGGAAAATCCTTT 0.418000 34 97 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102489170 102489170 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:102489170G>C ENST00000360184.4 + 43 8754 c.8590G>C c.(8590-8592)Gag>Cag p.E2864Q NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2864 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CATCGACAGAGAGAAGGCAAT 0.493000 33 124 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764690 77764690 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:77764690G>C ENST00000521891.2 + 10 5981 c.5533G>C c.(5533-5535)Gac>Cac p.D1845H ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1800H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1800H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1819H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1800 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTGAGTGCAGACTGCCAAAT 0.438000 HNSCC(33;0.089) 9 7 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578402 7578402 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:7578402G>A ENST00000420246.2 - 5 660 c.528C>T c.(526-528)tgC>tgT p.C176C TP53_ENST00000455263.2_Silent_p.C176C|TP53_ENST00000445888.2_Silent_p.C176C|TP53_ENST00000269305.4_Silent_p.C176C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Silent_p.C176C|TP53_ENST00000359597.4_Silent_p.C176C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176*(12)|p.C176W(11)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178fs*69(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176F(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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) CATGGTGGGGGCAGCGCCTCA 0.647000 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) 25 31 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101051168 101051168 + Missense_Mutation SNP C C A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:101051168C>A ENST00000360863.6 - 14 2351 c.2157G>T c.(2155-2157)aaG>aaT p.K719N RGS22_ENST00000523287.1_Missense_Mutation_p.K538N|RGS22_ENST00000523437.1_Missense_Mutation_p.K707N NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 719 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTGCGCTTGCTTGCATACTT 0.393000 3 38 0.004672 0.00479876 1 1 0 RGS4 5999 broad.mit.edu 37 1 163044203 163044203 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:163044203C>G ENST00000421743.2 + 6 922 c.762C>G c.(760-762)ttC>ttG p.F254L RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.F139L|RGS4_ENST00000367906.3_Missense_Mutation_p.F139L|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.F157L NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 157 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 AGAAGATTTTCAACCTGATGG 0.507000 54 391 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868977 22868977 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr22:22868977C>T ENST00000302097.3 - 2 1230 c.978G>A c.(976-978)agG>agA p.R326R NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGCTGTCGTTCCTCTGCTTCT 0.463000 62 127 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100801248 100801248 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:100801248G>C ENST00000355338.2 - 11 1998 c.1380C>G c.(1378-1380)ttC>ttG p.F460L WARS_ENST00000344102.5_Missense_Mutation_p.F419L|WARS_ENST00000392882.2_Missense_Mutation_p.F460L|WARS_ENST00000556645.1_Missense_Mutation_p.F419L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Missense_Mutation_p.F419L|WARS_ENST00000557135.1_Missense_Mutation_p.F460L NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 460 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) GGGGAGTCATGAACTCTTTCA 0.493000 33 118 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41160555 41160555 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:41160555C>T ENST00000483722.1 - 4 1055 c.870G>A c.(868-870)aaG>aaA p.K290K NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 290 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) TGTGTCTCTTCTTCCAAAACC 0.557000 5 21 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200867570 200867570 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:200867570C>T ENST00000367342.4 + 2 497 c.297C>T c.(295-297)atC>atT p.I99I C1orf106_ENST00000413687.2_Silent_p.I14I NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 99 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 ACAGTGGCATCATCCTGCAGT 0.612000 39 119 0 0 1 0 0 NCAPH2 29781 broad.mit.edu 37 22 50955877 50955877 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr22:50955877G>A ENST00000395701.3 + 3 326 c.232G>A c.(232-234)Gtc>Atc p.V78I NCAPH2_ENST00000395698.3_Missense_Mutation_p.V78I|NCAPH2_ENST00000420993.2_Missense_Mutation_p.V78I|NCAPH2_ENST00000299821.11_Missense_Mutation_p.V78I Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 78 chromosome condensation chromosome|nucleus breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) CTACTCACTCGTCTACCAGGC 0.607000 37 207 0 0 1 0 0 CIDEA 1149 broad.mit.edu 37 18 12277158 12277158 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr18:12277158G>A ENST00000320477.9 + 5 614 c.549G>A c.(547-549)gtG>gtA p.V183V CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 183 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 CCGCCCAGGTGACGGGACAGT 0.577000 32 122 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89339455 89339455 + Translation_Start_Site SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:89339455G>C ENST00000286614.6 - 0 262 RP11-586K2.1_ENST00000523254.1_RNA NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TGCTTCAATGGATGGACGAGC 0.502000 53 78 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858337 9858337 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:9858337G>A ENST00000396573.2 - 14 3373 c.3064C>T c.(3064-3066)Cgc>Tgc p.R1022C GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022C NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1022 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R1022C(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAATCCTGGCGTATGGAATCC 0.532000 44 100 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27424635 27424635 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:27424635C>G ENST00000211936.6 - 5 552 c.268G>C c.(268-270)Gag>Cag p.E90Q ZNF184_ENST00000377419.1_Missense_Mutation_p.E90Q NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 90 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATGCTTGGCTCCATGATCCAT 0.443000 24 53 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791373 42791373 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:42791373G>C ENST00000572681.2 + 4 3228 c.3160G>C c.(3160-3162)Gag>Cag p.E1054Q CIC_ENST00000160740.3_Missense_Mutation_p.E145Q|CIC_ENST00000575354.2_Missense_Mutation_p.E145Q Q96RK0 CIC_HUMAN capicua transcriptional repressor 145 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAGTGAGACAGAGAGTGACCA 0.662000 """Mis, F, S""" oligodendroglioma 7 36 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48855894 48855894 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:48855894G>C ENST00000314191.2 - 10 897 c.841C>G c.(841-843)Cag>Gag p.Q281E PRKDC_ENST00000338368.3_Missense_Mutation_p.Q281E|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 281 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTGCTAAACTGAGATGCATGC 0.413000 Non-homologous end-joining 3 28 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216564 170216564 + Silent SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:170216564G>C ENST00000231706.4 - 4 966 c.651C>G c.(649-651)ctC>ctG p.L217L CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 217 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TCAGCACATTGAGAACATTGT 0.507000 29 96 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 7 24 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88047711 88047711 + Silent SNP A A T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:88047711A>T ENST00000504921.2 - 5 1224 c.552T>A c.(550-552)ccT>ccA p.P184P MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Silent_p.P184P|MEF2C_ENST00000539796.1_Silent_p.P136P|MEF2C_ENST00000514015.1_Silent_p.P184P|MEF2C_ENST00000514028.1_Silent_p.P184P|MEF2C_ENST00000437473.2_Silent_p.P184P|MEF2C_ENST00000508569.1_Silent_p.P184P|MEF2C_ENST00000510942.1_Silent_p.P184P|MEF2C_ENST00000424173.2_Silent_p.P182P|MEF2C_ENST00000340208.5_Silent_p.P202P Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 184 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) GTGTTACACCAGGAGACATAC 0.483000 HNSCC(66;0.2) 40 210 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24927966 24927966 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:24927966G>A ENST00000405141.1 + 13 1672 c.961G>A c.(961-963)Ggc>Agc p.G321S NCOA1_ENST00000288599.5_Missense_Mutation_p.G321S|NCOA1_ENST00000538539.1_Missense_Mutation_p.G321S|NCOA1_ENST00000407230.1_Missense_Mutation_p.G170S|NCOA1_ENST00000406961.1_Missense_Mutation_p.G321S|NCOA1_ENST00000395856.3_Missense_Mutation_p.G321S|NCOA1_ENST00000348332.3_Missense_Mutation_p.G321S Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 321 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGACTCGTGGCACTGCCTC 0.423000 T PAX3 alveolar rhadomyosarcoma 28 77 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16465250 16465250 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:16465250C>T ENST00000308683.2 - 1 651 c.525G>A c.(523-525)gaG>gaA p.E175E NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 175 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GGGGTGGTTTCTCACTCGGGT 0.632000 50 135 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10099491 10099491 + Missense_Mutation SNP A A C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:10099491A>C ENST00000382452.2 - 5 684 c.402T>G c.(400-402)gaT>gaG p.D134E WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.D134E|WDR1_ENST00000382451.2_Intron NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 134 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) AAGAGCCACTATCCCAGAGGA 0.488000 7 33 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24974771 24974771 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:24974771C>T ENST00000250378.3 - 5 724 c.695G>A c.(694-696)cGa>cAa p.R232Q RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.R121Q NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 232 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) ATGGGAGATTCGGGTGAAGAC 0.587000 24 140 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36340175 36340175 + Missense_Mutation SNP C C T rs115308424 by1000genomes TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:36340175C>T ENST00000378910.5 - 7 802 c.803G>A c.(802-804)cGa>cAa p.R268Q NPHS1_ENST00000353632.6_Missense_Mutation_p.R268Q NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 268 Ig-like C2-type 3. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATTACCCCCTCGGGCCACGCA 0.662000 15 42 0 0 1 0 0 SSBP2 23635 broad.mit.edu 37 5 80809449 80809449 + Nonsense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:80809449G>A ENST00000320672.4 - 5 580 c.370C>T c.(370-372)Cag>Tag p.Q124* SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Nonsense_Mutation_p.Q124*|SSBP2_ENST00000515395.1_Intron NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 124 Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CTGAGTACCTGAAAGAACCCT 0.423000 14 99 0 0 1 0 0 TMEM129 92305 broad.mit.edu 37 4 1719932 1719932 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:1719932G>A ENST00000382936.3 - 2 1120 c.627C>T c.(625-627)ctC>ctT p.L209L TMEM129_ENST00000536901.1_Silent_p.L209L|TMEM129_ENST00000303277.2_Silent_p.L209L NM_001127266.1 NP_001120738.1 A0AVI4 TM129_HUMAN transmembrane protein 129 209 integral to membrane lung(2) 2 OV - Ovarian serous cystadenocarcinoma(23;0.00765) GGATGGTGAGGAGCTGCACGG 0.637000 3 12 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121530188 121530188 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:121530188G>C ENST00000305949.1 + 19 2389 c.2344G>C c.(2344-2346)Gaa>Caa p.E782Q NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 782 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GCCACAAACAGAACGGTCCTT 0.398000 4 80 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140201526 140201526 + Missense_Mutation SNP C C A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr9:140201526C>A ENST00000340951.4 - 22 2702 c.2507G>T c.(2506-2508)gGa>gTa p.G836V EXD3_ENST00000342129.4_Missense_Mutation_p.G474V NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 836 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 GAAGACCTTTCCACAGCCCGT 0.697000 10 13 0.000673444 0.000694407 1 1 0 SYT8 90019 broad.mit.edu 37 11 1857283 1857283 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:1857283G>A ENST00000535046.1 + 4 882 c.882G>A c.(880-882)caG>caA p.Q294Q SYT8_ENST00000341958.3_Intron|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000436964.2_Silent_p.Q142Q Q8NBV8 SYT8_HUMAN synaptotagmin VIII 0 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGAAGGGCAGACCCCATGCC 0.687000 3 18 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18143304 18143304 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr20:18143304C>T ENST00000278816.2 + 7 2036 c.1386C>T c.(1384-1386)ccC>ccT p.P462P CSRP2BP_ENST00000435364.2_Silent_p.P462P|CSRP2BP_ENST00000377681.2_Silent_p.P461P|CSRP2BP_ENST00000489634.2_Silent_p.P334P Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 462 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 GGTATACTCCCGTGAGCATCT 0.512000 15 87 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331687 70331687 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:70331687C>T ENST00000338508.4 - 32 4713 c.4714G>A c.(4714-4716)Gat>Aat p.D1572N SHANK2_ENST00000409161.1_Missense_Mutation_p.D975N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1192N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D976N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1192 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTATCTACATCTTCTTCCACG 0.547000 133 1114 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62453119 62453119 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:62453119G>A ENST00000512091.1 + 4 977 c.230G>A c.(229-231)cGa>cAa p.R77Q LPHN3_ENST00000506746.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R145Q Q9HAR2 LPHN3_HUMAN latrophilin 3 77 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GAGAATATCCGATGTTATCTG 0.398000 7 23 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47311465 47311465 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:47311465G>A ENST00000342922.4 + 17 3161 c.2804G>A c.(2803-2805)gGc>gAc p.G935D MADD_ENST00000407859.3_Missense_Mutation_p.G912D|MADD_ENST00000406482.1_Missense_Mutation_p.G892D|MADD_ENST00000395344.3_Missense_Mutation_p.G892D|MADD_ENST00000349238.3_Missense_Mutation_p.G955D|MADD_ENST00000311027.5_Missense_Mutation_p.G955D|MADD_ENST00000402799.1_Missense_Mutation_p.G892D|MADD_ENST00000402192.2_Missense_Mutation_p.G935D|MADD_ENST00000395336.3_Missense_Mutation_p.G955D NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 955 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GTGCTGGACGGCCAGGGAGTT 0.597000 8 39 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 312193 312193 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:312193G>C ENST00000399932.3 + 7 1261 c.810G>C c.(808-810)agG>agC p.R270S ITFG3_ENST00000450082.2_Missense_Mutation_p.R270S|ITFG3_ENST00000600536.1_Missense_Mutation_p.R270S|ITFG3_ENST00000301679.2_Missense_Mutation_p.R270S|ITFG3_ENST00000301678.3_Missense_Mutation_p.R270S|ITFG3_ENST00000442458.2_Missense_Mutation_p.R270S Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 270 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) ACGTCACCAGGACAGGTGCCC 0.617000 14 36 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 117 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868215 37868215 + Silent SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:37868215C>G ENST00000406381.2 + 10 1356 c.846C>G c.(844-846)acC>acG p.T282T ERBB2_ENST00000541774.1_Silent_p.T297T|ERBB2_ENST00000540147.1_Silent_p.T282T|ERBB2_ENST00000445658.2_Silent_p.T36T|ERBB2_ENST00000269571.5_Silent_p.T312T|ERBB2_ENST00000578199.1_Silent_p.T282T|ERBB2_ENST00000540042.1_Silent_p.T282T|ERBB2_ENST00000584601.1_Silent_p.T282T|ERBB2_ENST00000584450.1_Silent_p.T312T NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 312 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GATCCTGCACCCTCGTCTGCC 0.572000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 36 230 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72129059 72129059 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:72129059G>C ENST00000340726.3 - 14 1867 c.1228C>G c.(1228-1230)Cct>Gct p.P410A EYA1_ENST00000388743.2_Missense_Mutation_p.P409A|EYA1_ENST00000419131.1_Missense_Mutation_p.P375A|EYA1_ENST00000303824.7_Missense_Mutation_p.P404A|EYA1_ENST00000388742.4_Missense_Mutation_p.P410A|EYA1_ENST00000388741.2_Missense_Mutation_p.P376A|EYA1_ENST00000388740.3_Missense_Mutation_p.P377A NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 410 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCTGCAGCAGGAAAGCCATCT 0.433000 5 113 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131922087 131922087 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:131922087C>G ENST00000286355.5 - 6 3599 c.1507G>C c.(1507-1509)Gat>Cat p.D503H ADCY8_ENST00000377928.3_Missense_Mutation_p.D503H NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 503 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGTCAACATCGTGTTTTGTC 0.478000 HNSCC(32;0.087) 22 118 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128351213 128351213 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:128351213C>T ENST00000389524.4 + 18 2291 c.2238C>T c.(2236-2238)ttC>ttT p.F746F MYO7B_ENST00000409816.2_Silent_p.F746F|MYO7B_ENST00000428314.1_Silent_p.F746F Q6PIF6 MYO7B_HUMAN myosin VIIB 746 IQ 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAAAAATTTTCCTGAGGGTGA 0.607000 16 109 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 26995607 26995607 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr22:26995607G>A ENST00000215939.2 - 6 736 c.606C>T c.(604-606)cgC>cgT p.R202R NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 202 Beta/gamma crystallin 'Greek key' 4. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 ACTGGTACCCGCGGTAGCCAG 0.597000 18 50 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141244793 141244793 + Missense_Mutation SNP C C T rs142395032 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:141244793C>T ENST00000287008.3 - 3 1250 c.1103G>A c.(1102-1104)aGt>aAt p.S368N PCDH1_ENST00000394536.3_Missense_Mutation_p.S368N|PCDH1_ENST00000536585.1_Missense_Mutation_p.S346N|PCDH1_ENST00000456271.1_Missense_Mutation_p.S356N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 368 Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGCACGGGCACTCTTGGGGTT 0.572000 32 85 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238672203 238672203 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:238672203G>A ENST00000244815.5 + 10 2015 c.1775G>A c.(1774-1776)aGa>aAa p.R592K LRRFIP1_ENST00000392000.4_Missense_Mutation_p.R616K|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.R560K NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 616 Lys-rich. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) TCTACTGACAGAAAGTCAGCA 0.383000 5 22 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410637 105410637 + Silent SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:105410637G>C ENST00000333244.5 - 7 11270 c.11151C>G c.(11149-11151)ctC>ctG p.L3717L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3717 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTGCTCTTTGAGGCCGGCTC 0.627000 166 297 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 6 53 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73161471 73161471 + Missense_Mutation SNP T T C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:73161471T>C ENST00000286657.4 - 19 2659 c.2623A>G c.(2623-2625)Aaa>Gaa p.K875E NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 875 TSP type-1 2. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTATCACTTTTCCTACGGCAT 0.373000 9 57 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86591642 86591642 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:86591642C>G ENST00000370571.2 - 3 743 c.377G>C c.(376-378)aGa>aCa p.R126T COL24A1_ENST00000436319.1_Missense_Mutation_p.R126T NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 126 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ATTTTTATTTCTAATGCTGAA 0.368000 15 39 0 0 1 0 0 RDH11 51109 broad.mit.edu 37 14 68151846 68151846 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:68151846C>G ENST00000381346.4 - 6 850 c.740G>C c.(739-741)aGa>aCa p.R247T RDH11_ENST00000553384.1_Missense_Mutation_p.R234T|RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000428130.2_Missense_Mutation_p.R177T|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.D78H NM_001252650.1|NM_016026.3 NP_001239579.1|NP_057110.3 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 (all-trans/9-cis/11-cis) 247 retinol metabolic process|steroid metabolic process endoplasmic reticulum membrane|integral to membrane binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1) 12 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) CCACATCCATCTCATGAAAGA 0.512000 9 75 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 36229032 36229032 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr13:36229032C>T ENST00000400445.3 + 53 8547 c.8013C>T c.(8011-8013)ctC>ctT p.L2671L NBEA_ENST00000379939.2_Silent_p.L2668L|NBEA_ENST00000540320.1_Silent_p.L2671L|NBEA_ENST00000310336.4_Silent_p.L2671L|NBEA_ENST00000379922.3_Silent_p.L249L|NBEA_ENST00000537702.1_Silent_p.L464L NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 2671 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCACAGACCTCGTTGACCAGA 0.368000 4 16 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37815895 37815895 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:37815895C>G ENST00000326524.2 - 3 693 c.494G>C c.(493-495)aGa>aCa p.R165T GDNF_ENST00000344622.4_Missense_Mutation_p.R139T|GDNF_ENST00000381826.4_Missense_Mutation_p.R156T|GDNF_ENST00000427982.1_Missense_Mutation_p.R182T|GDNF_ENST00000515058.1_Missense_Mutation_p.R139T NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 165 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) CCTTCTATTTCTGGATAAGTT 0.448000 21 112 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237841360 237841360 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:237841360G>A ENST00000366574.2 + 61 9160 c.8843G>A c.(8842-8844)aGa>aAa p.R2948K RYR2_ENST00000360064.6_Missense_Mutation_p.R2946K|RYR2_ENST00000542537.1_Missense_Mutation_p.R2932K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2948 Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGTGGCAGCAGAGGCAAAGGA 0.348000 3 10 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48311578 48311578 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:48311578C>G ENST00000435803.1 + 17 2339 c.2315C>G c.(2314-2316)tCt>tGt p.S772C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 772 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AATATAAGTTCTCTGTGGACA 0.383000 3 26 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506284 11506284 + Silent SNP A A C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:11506284A>C ENST00000500254.2 - 4 391 c.354T>G c.(352-354)ccT>ccG p.P118P PRB1_ENST00000546254.1_Silent_p.P118P|PRB1_ENST00000545626.1_Intron NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 312 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGACCTTGAGGTTTGTTGC 0.617000 30 247 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128865003 128865003 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:128865003C>T ENST00000296468.3 - 5 470 c.343G>A c.(343-345)Gtg>Atg p.V115M MFSD8_ENST00000513559.1_Missense_Mutation_p.V70M|MFSD8_ENST00000541133.1_Missense_Mutation_p.V70M|MFSD8_ENST00000515130.1_5'UTR NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 115 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TTGGCTGCCACGGAAATCAAG 0.413000 17 88 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16456789 16456789 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:16456789G>A ENST00000358432.5 - 15 2755 c.2601C>T c.(2599-2601)atC>atT p.I867I NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 867 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding p.I867I(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GGATGCTGACGATGTCAGCGA 0.622000 14 66 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169623544 169623544 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:169623544C>G ENST00000366787.3 - 19 3049 c.2800G>C c.(2800-2802)Gat>Cat p.D934H XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 934 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) TCAAAATCATCTTTACAAATA 0.413000 22 73 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122757637 122757637 + Missense_Mutation SNP A A T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:122757637A>T ENST00000194130.2 - 14 1577 c.1538T>A c.(1537-1539)cTt>cAt p.L513H SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 513 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) CAGAATATAAAGAGGGTTCAC 0.348000 4 47 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81072505 81072505 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:81072505G>A ENST00000334512.5 + 25 3775 c.3203G>A c.(3202-3204)tGa>tAa p.*1068* ZMIZ1_ENST00000446377.2_Silent_p.*134* NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 0 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GAGAACAACTGAGGGCCACCC 0.597000 48 109 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94794750 94794750 + Silent SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr9:94794750G>C ENST00000262554.2 - 15 1424 c.1419C>G c.(1417-1419)ctC>ctG p.L473L NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 473 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACTCTGCCTAGAGCAGGACGG 0.582000 10 66 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241494435 241494435 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:241494435C>T ENST00000401804.1 - 3 322 c.184G>A c.(184-186)Gct>Act p.A62T ANKMY1_ENST00000403283.1_Missense_Mutation_p.A141T|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000405523.3_Missense_Mutation_p.A62T|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A62T|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A62T|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Missense_Mutation_p.A15T|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.A62T|ANKMY1_ENST00000462004.1_5'UTR Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 0 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGGCCCTCAGCTTCCTCCTCT 0.592000 34 91 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 109 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40588791 40588791 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:40588791C>T ENST00000260402.3 - 15 1780 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K PLCB2_ENST00000456256.2_Missense_Mutation_p.E511K|PLCB2_ENST00000557821.1_Missense_Mutation_p.E507K NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 511 Glu-rich. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) tcttcctcttccacctcctcc 0.597000 5 34 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123970124 123970124 + Nonsense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:123970124C>T ENST00000369005.1 + 9 6524 c.6184C>T c.(6184-6186)Cag>Tag p.Q2062* TACC2_ENST00000453444.2_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Nonsense_Mutation_p.Q140*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.Q2017*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.Q2062* NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2062 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CGCTAAGAATCAGGAGGGCAA 0.532000 25 68 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155837784 155837784 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:155837784C>T ENST00000368324.4 + 2 316 c.63C>T c.(61-63)atC>atT p.I21I SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 21 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CCGGCCTCATCGGGGCCTCTG 0.582000 7 57 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109489982 109489982 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:109489982C>T ENST00000295124.4 + 14 1829 c.1769C>T c.(1768-1770)cCt>cTt p.P590L CCDC138_ENST00000412964.2_Intron NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 590 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 CTTCGAGCCCCTAAGCTTGAT 0.338000 6 42 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779372 31779372 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:31779372C>G ENST00000375654.4 - 2 567 c.378G>C c.(376-378)ttG>ttC p.L126F HSPA1L_ENST00000417199.3_Missense_Mutation_p.L126F NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 126 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TCAACTTAGTCAATACCATCG 0.463000 8 46 0 0 1 0 0 GOLGA6L3 100133220 broad.mit.edu 37 15 83014132 83014132 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:83014132C>G ENST00000557886.1 - 6 550 c.451G>C c.(451-453)Gag>Cag p.E151Q p.E151Q(4) endometrium(6)|kidney(5)|prostate(1) 12 GCTGGGGGCTCTGGGGCCAGG 0.522000 3 9 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367272 248367272 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:248367272C>G ENST00000456743.1 + 1 941 c.903C>G c.(901-903)ttC>ttG p.F301L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCAGAGCATTCATGAAGATCT 0.428000 36 93 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100911253 100911253 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:100911253G>A ENST00000369208.3 - 2 874 c.92C>T c.(91-93)tCg>tTg p.S31L SIM1_ENST00000262901.4_Missense_Mutation_p.S31L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 31 Helix-loop-helix motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.S31L(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGTGATAGCCGAGGGCAAAGG 0.458000 16 83 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44938204 44938204 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:44938204G>C ENST00000296125.4 + 6 621 c.553G>C c.(553-555)Gag>Cag p.E185Q NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 185 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AAAATAGTTTGAGAAAAATGT 0.493000 14 36 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15689001 15689001 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:15689001C>T ENST00000378076.3 - 12 1404 c.1051G>A c.(1051-1053)Gag>Aag p.E351K NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 351 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGGTTGCTCTCAAATTCACGT 0.507000 28 45 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82837879 82837879 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:82837879C>T ENST00000265077.3 + 8 9622 c.9057C>T c.(9055-9057)atC>atT p.I3019I VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.I2032I|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3019 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGCTTTAATCAGAGGGCAGG 0.473000 30 57 0 0 1 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28212905 28212905 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:28212905G>C ENST00000377294.2 - 5 1870 c.1627C>G c.(1627-1629)Ctt>Gtt p.L543V ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L388V NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 543 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CACTGTGAAAGAGTTTTTTTC 0.443000 32 90 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764944 77764944 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:77764944G>A ENST00000521891.2 + 10 6235 c.5787G>A c.(5785-5787)caG>caA p.Q1929Q ZFHX4_ENST00000455469.2_Silent_p.Q1884Q|ZFHX4_ENST00000050961.6_Silent_p.Q1884Q|ZFHX4_ENST00000518282.1_Silent_p.Q1903Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1884 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAAACAGGCAGAAGGTACAGA 0.413000 HNSCC(33;0.089) 29 41 0 0 1 0 0 LPPR2 64748 broad.mit.edu 37 19 11474442 11474442 + Silent SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:11474442C>G ENST00000251473.5 + 8 1270 c.894C>G c.(892-894)ctC>ctG p.L298L DKFZP761J1410_ENST00000591608.1_Silent_p.L273L NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 GCCGAAGGCTCTCTCCCTGGG 0.632000 8 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477226 179477226 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:179477226C>G ENST00000589042.1 - 266 50250 c.50026G>C c.(50026-50028)Gag>Cag p.E16676Q TTN_ENST00000591111.1_Missense_Mutation_p.E15035Q|TTN_ENST00000359218.5_Missense_Mutation_p.E7736Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7803Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7611Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14108Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15035 Fibronectin type-III 21. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCTTTCTCAGGAACTGTC 0.448000 6 27 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95515045 95515045 + RNA SNP T T C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:95515045T>C ENST00000432432.2 - 0 612 NR_040113.1 AAGTGGGGTATTACTGTCCTA 0.333000 21 151 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168099105 168099105 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:168099105C>G ENST00000409195.1 + 9 1292 c.1203C>G c.(1201-1203)ttC>ttG p.F401L XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F179L|XIRP2_ENST00000295237.9_Missense_Mutation_p.F401L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 226 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 AAGAGACTTTCAAGCCATCAT 0.423000 11 89 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189688630 189688630 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:189688630G>A ENST00000319332.5 - 13 2065 c.1868C>T c.(1867-1869)aCa>aTa p.T623I LEPREL1_ENST00000427335.2_Missense_Mutation_p.T442I NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 623 Fe2OG dioxygenase. collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATCCATCTCTGTGAATATGAA 0.313000 12 41 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33407426 33407426 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:33407426C>T ENST00000242067.6 + 17 2262 c.1741C>T c.(1741-1743)Cac>Tac p.H581Y BBS9_ENST00000396127.2_Missense_Mutation_p.H546Y|BBS9_ENST00000355070.2_Missense_Mutation_p.H576Y|BBS9_ENST00000354265.4_Missense_Mutation_p.H546Y|BBS9_ENST00000350941.3_Missense_Mutation_p.H541Y NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 581 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AATGGGTTTTCACTTCTTAGG 0.358000 Bardet-Biedl syndrome 5 70 0 0 1 0 0 LRRC36 55282 broad.mit.edu 37 16 67400972 67400972 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:67400972G>A ENST00000329956.6 + 8 826 c.807G>A c.(805-807)atG>atA p.M269I LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Start_Codon_SNP_p.M1I|LRRC36_ENST00000435835.3_Missense_Mutation_p.M148I|LRRC36_ENST00000563189.1_Missense_Mutation_p.M148I NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 269 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) CAGAGAAGATGACTAGAGAAG 0.403000 15 88 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107875086 107875086 + Silent SNP A A G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:107875086A>G ENST00000379028.3 - 6 641 c.171T>C c.(169-171)atT>atC p.I57I NRCAM_ENST00000413765.2_Silent_p.I57I|NRCAM_ENST00000379022.4_Silent_p.I57I|NRCAM_ENST00000379024.4_Silent_p.I57I|NRCAM_ENST00000351718.4_Silent_p.I51I|NRCAM_ENST00000425651.2_Silent_p.I57I Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 57 Ig-like 1. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 GAGGGTCAATAATGTAATCTT 0.353000 10 66 0 0 1 0 0 CAPZB 832 broad.mit.edu 37 1 19705096 19705096 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:19705096C>T ENST00000264203.3 - 5 838 c.345G>A c.(343-345)ccG>ccA p.P115P CAPZB_ENST00000375144.1_Silent_p.P77P|CAPZB_ENST00000375142.1_Silent_p.P89P|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Silent_p.P118P|CAPZB_ENST00000264202.6_Silent_p.P89P|CAPZB_ENST00000401084.2_Silent_p.P89P P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 89 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) GCCGAGCTGACGGCATGGCCC 0.502000 15 70 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139207509 139207509 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:139207509C>T ENST00000395297.1 - 9 1035 c.865G>A c.(865-867)Gag>Aag p.E289K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 289 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCTGTAGCTCTGAGCACAGC 0.433000 HNSCC(54;0.14) 8 76 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983171 97983171 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:97983171G>A ENST00000383696.2 + 1 84 c.43G>A c.(43-45)Gag>Aag p.E15K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GACATGCAGTGAGGAGATGGA 0.383000 23 101 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716859 151716859 + Missense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:151716859G>T ENST00000392800.2 + 9 1559 c.1305G>T c.(1303-1305)gaG>gaT p.E435D GALNTL5_ENST00000431418.2_Missense_Mutation_p.E435D NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 435 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TCTTCCCAGAGTTGGAGGCAT 0.403000 20 37 4.96729e-08 5.24435e-08 1 1 0 CHRM5 1133 broad.mit.edu 37 15 34356456 34356456 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:34356456G>A ENST00000383263.5 + 3 2208 c.1538G>A c.(1537-1539)cGa>cAa p.R513Q CHRM5_ENST00000557872.1_Missense_Mutation_p.R513Q NM_012125.3 NP_036257.1 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 513 cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 20 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) CTTCTCTGCCGATGGAAAAAG 0.463000 9 50 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30748954 30748954 + Silent SNP A A C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:30748954A>C ENST00000262518.4 + 34 7978 c.7593A>C c.(7591-7593)ccA>ccC p.P2531P SRCAP_ENST00000344771.4_Silent_p.P2373P|SRCAP_ENST00000395059.2_Silent_p.P2469P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2531 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TGCTTGGTCCACCTTCTGTGC 0.597000 12 112 0 0 1 0 0 RFFL 117584 broad.mit.edu 37 17 33339032 33339032 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:33339032G>C ENST00000315249.7 - 7 1269 c.1047C>G c.(1045-1047)atC>atG p.I349M RFFL_ENST00000447669.2_Missense_Mutation_p.I349M|RFFL_ENST00000413582.2_Missense_Mutation_p.I341M|RFFL_ENST00000394597.2_Missense_Mutation_p.I349M|RFFL_ENST00000268850.7_Missense_Mutation_p.I313M|RFFL_ENST00000584655.1_Missense_Mutation_p.I313M|RFFL_ENST00000378516.2_Missense_Mutation_p.I341M|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.I258M|RFFL_ENST00000415395.2_Missense_Mutation_p.I349M Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 349 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACTGCCGGCAGATGGGACATT 0.522000 13 83 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 89 0.150653 0.150653 1 1 0 AMACR 23600 broad.mit.edu 37 5 34004719 34004719 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:34004719C>T ENST00000335606.6 - 3 600 c.512G>A c.(511-513)cGc>cAc p.R171H AMACR_ENST00000382085.3_Missense_Mutation_p.R171H|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000502637.1_Missense_Mutation_p.R171H|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000514195.1_Intron NM_001167595.1|NM_014324.5 NP_001161067.1|NP_055139.4 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase 171 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 AGTGCGTGTGCGGTCAAAAAG 0.478000 4 125 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131469624 131469624 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr9:131469624G>C ENST00000291906.4 + 6 1168 c.775G>C c.(775-777)Gct>Cct p.A259P NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 259 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AGAGTTGCGGGCTGCGGTGCC 0.612000 14 23 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2160602 2160602 + Missense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:2160602G>T ENST00000378536.4 + 1 469 c.397G>T c.(397-399)Gac>Tac p.D133Y NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 133 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) GGTGCTGCGCGACTTCTCGCT 0.622000 5 27 0.014758 0.014927 1 1 0 SLK 9748 broad.mit.edu 37 10 105781404 105781404 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:105781404G>A ENST00000369755.3 + 18 4019 c.3474G>A c.(3472-3474)gaG>gaA p.E1158E SLK_ENST00000335753.4_Silent_p.E1127E NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 1158 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGTTGGTTGAGCATGAGACTC 0.323000 4 53 0 0 1 0 0 ZNF613 79898 broad.mit.edu 37 19 52448568 52448568 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:52448568C>G ENST00000293471.6 + 6 2111 c.1432C>G c.(1432-1434)Cac>Gac p.H478D ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H442D NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) CCAGAGAATTCACACAGGAGA 0.448000 23 49 0 0 1 0 0 CCR8 1237 broad.mit.edu 37 3 39374086 39374086 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:39374086C>T ENST00000326306.4 + 2 402 c.264C>T c.(262-264)ttC>ttT p.F88F CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 88 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TCTTCTCCTTCCCCTTTCAGA 0.488000 30 147 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151945174 151945174 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:151945174G>C ENST00000355193.2 - 14 2563 c.2345C>G c.(2344-2346)tCt>tGt p.S782C KMT2C_ENST00000262189.6_Missense_Mutation_p.S782C lysine (K)-specific methyltransferase 2C TGGGGAGGAAGACACATCTGC 0.428000 8 356 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26962072 26962072 + Nonsense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:26962072G>A ENST00000528896.2 - 16 2607 c.2533C>T c.(2533-2535)Cag>Tag p.Q845* KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q702*|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q702* NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 845 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGCCACTTCTGAACTCCCACA 0.527000 43 198 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232630 21232630 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:21232630C>T ENST00000233242.1 - 26 7237 c.7110G>A c.(7108-7110)ttG>ttA p.L2370L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2370 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAGTCTCCTTCAACTTGTATT 0.368000 7 28 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038916 11038916 + RNA SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr21:11038916G>C ENST00000470054.1 - 0 1287 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGGGAGGAAGACACATCTGC 0.428000 7 423 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23314558 23314558 + Missense_Mutation SNP T T A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:23314558T>A ENST00000311852.6 + 9 1661 c.1400T>A c.(1399-1401)tTc>tAc p.F467Y MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 467 Hemopexin-like 4. extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) AGAGGGTCATTCATGGGCAGC 0.557000 17 39 0 0 1 0 0 ZNF829 374899 broad.mit.edu 37 19 37405914 37405914 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:37405914C>G ENST00000520965.1 - 3 358 c.292G>C c.(292-294)Gaa>Caa p.E98Q ZNF829_ENST00000391711.3_Missense_Mutation_p.E17Q NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCTCCTCTTCTGGGTGACAC 0.423000 4 50 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42799702 42799702 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:42799702C>T ENST00000310232.6 - 2 219 c.136G>A c.(136-138)Gac>Aac p.D46N CCDC13_ENST00000435327.2_5'UTR NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 46 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 TCCTCTTGGTCGTCAGCTCTG 0.493000 20 52 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245850699 245850699 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:245850699G>A ENST00000366518.4 + 9 3375 c.3271G>A c.(3271-3273)Gct>Act p.A1091T KIF26B_ENST00000407071.2_Missense_Mutation_p.A1472T Q2KJY2 KI26B_HUMAN kinesin family member 26B 1472 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CCCCTCGAATGCTGAGACCAG 0.597000 4 13 0 0 1 0 0 CLUAP1 23059 broad.mit.edu 37 16 3580624 3580624 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:3580624G>C ENST00000571025.1 + 10 1035 c.985G>C c.(985-987)Gaa>Caa p.E329Q CLUAP1_ENST00000341633.5_Missense_Mutation_p.E329Q|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E163Q|CLUAP1_ENST00000445795.2_Missense_Mutation_p.E88Q|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E329Q|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E163Q Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 329 nucleus protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2) 16 CAGTGAGTTGGAAGAAAGGCG 0.547000 14 31 0 0 1 0 0 SIPA1 6494 broad.mit.edu 37 11 65417892 65417892 + Nonsense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:65417892C>G ENST00000394224.3 + 15 3220 c.2924C>G c.(2923-2925)tCa>tGa p.S975* SIPA1_ENST00000394227.3_Nonsense_Mutation_p.S873*|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.S873*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.S975* NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 975 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 GGGAACCTCTCAGAGAAGGTC 0.622000 10 94 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27291621 27291621 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:27291621C>T ENST00000397501.1 + 17 1925 c.1117C>T c.(1117-1119)Cgg>Tgg p.R373W PTK2B_ENST00000544172.1_Missense_Mutation_p.R373W|PTK2B_ENST00000397497.4_Missense_Mutation_p.R119W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R373W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R373W|PTK2B_ENST00000346049.5_Missense_Mutation_p.R373W|PTK2B_ENST00000338238.4_Missense_Mutation_p.R373W NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 373 apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TGGTGAGAAGCGGAACAGCCT 0.562000 16 108 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004846 101004846 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:101004846C>G ENST00000556751.1 - 5 4454 c.1050G>C c.(1048-1050)atG>atC p.M350I BEGAIN_ENST00000355173.2_Missense_Mutation_p.M414I|BEGAIN_ENST00000443071.2_Missense_Mutation_p.M414I Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 414 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) ACTGGCCCCTCATGTCCTCCC 0.726000 3 26 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117890829 117890829 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:117890829C>T ENST00000535237.1 - 7 1212 c.983G>A c.(982-984)gGa>gAa p.G328E GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G328E|GOPC_ENST00000052569.6_Missense_Mutation_p.G320E|DCBLD1_ENST00000296955.8_3'UTR golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) GTGCAGCCCTCCGCATCTATC 0.458000 O ROS1 glioblastoma 33 196 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12334167 12334167 + Nonsense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:12334167G>A ENST00000261349.4 - 6 1259 c.1183C>T c.(1183-1185)Cag>Tag p.Q395* LRP6_ENST00000543091.1_Nonsense_Mutation_p.Q395* NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 395 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) ACCACAAACTGACTGCCAGAT 0.468000 13 106 0 0 1 0 0 RNASE9 390443 broad.mit.edu 37 14 21024726 21024726 + Missense_Mutation SNP C C A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:21024726C>A ENST00000557068.1 - 4 2228 c.503G>T c.(502-504)tGt>tTt p.C168F RNASE9_ENST00000557209.1_Missense_Mutation_p.C173F|RNASE9_ENST00000429244.2_Missense_Mutation_p.C168F|RNASE9_ENST00000556208.1_Missense_Mutation_p.C173F|RNASE9_ENST00000553706.1_Missense_Mutation_p.C173F|RNASE9_ENST00000338904.3_Missense_Mutation_p.C168F|RNASE9_ENST00000553541.1_Missense_Mutation_p.C168F|RNASE9_ENST00000554964.1_Missense_Mutation_p.C168F|RNASE9_ENST00000555230.1_Missense_Mutation_p.C168F|RNASE9_ENST00000404716.3_Missense_Mutation_p.C173F P60153 RNAS9_HUMAN ribonuclease, RNase A family, 9 (non-active) 168 extracellular region nucleic acid binding|pancreatic ribonuclease activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;3.32e-06)|all cancers(55;2.46e-05) GBM - Glioblastoma multiforme(265;0.0141) TTGCCATGAACAAGTGATAAG 0.388000 5 34 0.014758 0.014927 1 1 0 MIS18BP1 55320 broad.mit.edu 37 14 45686255 45686255 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:45686255G>A ENST00000310806.4 - 13 3428 c.2970C>T c.(2968-2970)ttC>ttT p.F990F NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 990 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 GTGTTGTACTGAAAAAATCAT 0.338000 14 98 0 0 1 0 0 SPATA2L 124044 broad.mit.edu 37 16 89764256 89764256 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:89764256G>A ENST00000289805.5 - 3 829 c.761C>T c.(760-762)cCg>cTg p.P254L SPATA2L_ENST00000335360.7_Intron NM_152339.3 NP_689552.2 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 254 breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) CAGCTCCGCCGGGGGCGAGTC 0.692000 6 18 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155088 12155088 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:12155088G>A ENST00000602107.1 - 5 1268 c.1269C>T c.(1267-1269)ttC>ttT p.F423F CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Silent_p.F376F C9JN71 ZN878_HUMAN zinc finger protein 878 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TGGAAGAAGTGAAGGTTTTCC 0.423000 10 48 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590426 125590426 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:125590426G>C ENST00000504087.1 - 4 5043 c.4006C>G c.(4006-4008)Cag>Gag p.Q1336E ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q1157E NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1336 p.Q1336*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 ATTTCCTGCTGAGCTGAAGGT 0.403000 14 109 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64596788 64596788 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:64596788G>A ENST00000357395.3 + 77 14461 c.3317G>A c.(3316-3318)gGa>gAa p.G1106E ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.G4638E|SYNE2_ENST00000394768.2_Missense_Mutation_p.G1106E|SYNE2_ENST00000344113.4_Missense_Mutation_p.G4721E|SYNE2_ENST00000555002.1_Missense_Mutation_p.G1355E|SYNE2_ENST00000358025.3_Missense_Mutation_p.G4721E Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4721 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTATGTGGGGAATGCTAAGA 0.478000 23 51 0 0 1 0 0 ZBTB37 84614 broad.mit.edu 37 1 173839393 173839393 + Missense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:173839393G>T ENST00000367704.1 + 3 429 c.30G>T c.(28-30)gaG>gaT p.E10D ZBTB37_ENST00000427304.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000367701.4_Missense_Mutation_p.E10D|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E10D Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 TACAATTGGAGATTCCTGACT 0.433000 5 31 0.014758 0.014927 1 1 0 PRSS38 339501 broad.mit.edu 37 1 228003458 228003458 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:228003458C>T ENST00000366757.3 + 1 65 c.41C>T c.(40-42)tCt>tTt p.S14F NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 14 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CTCGGGCCCTCTGCCCTGGGC 0.667000 10 32 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39917519 39917519 + Silent SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr22:39917519G>C ENST00000337304.2 + 1 951 c.69G>C c.(67-69)tcG>tcC p.S23S ATF4_ENST00000396680.1_Silent_p.S23S|ATF4_ENST00000404241.2_Silent_p.S23S NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 23 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) TCGACCAGTCGGGTTTGGGGG 0.552000 18 137 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85851334 85851334 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:85851334G>C ENST00000383699.3 + 3 853 c.226G>C c.(226-228)Gac>Cac p.D76H CADM2_ENST00000407528.2_Missense_Mutation_p.D67H|CADM2_ENST00000405615.2_Missense_Mutation_p.D69H|CADM2-AS2_ENST00000467225.1_RNA NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 67 Ig-like V-type. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TCTGTACTTTGACGACAAGAA 0.343000 7 40 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48546828 48546828 + Silent SNP C C A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:48546828C>A ENST00000537810.1 - 43 5977 c.5373G>T c.(5371-5373)gtG>gtT p.V1791V FRYL_ENST00000503238.1_Silent_p.V1791V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Silent_p.V1791V O94915 FRYL_HUMAN FRY-like 1791 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AAACAGAAACCACATGTTTCA 0.338000 13 36 5.50884e-06 5.77013e-06 1 1 0 TRPS1 7227 broad.mit.edu 37 8 116631647 116631647 + Silent SNP T T G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:116631647T>G ENST00000395715.3 - 3 1255 c.678A>C c.(676-678)gcA>gcC p.A226A TRPS1_ENST00000519076.1_Silent_p.A167A|TRPS1_ENST00000519674.1_Silent_p.A213A|TRPS1_ENST00000220888.5_Silent_p.A213A|TRPS1_ENST00000520276.1_Silent_p.A217A NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 213 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAGACAGAGGTGCCGGGTCTG 0.458000 Langer-Giedion syndrome 23 201 0 0 1 0 0 KCTD12 115207 broad.mit.edu 37 13 77460092 77460092 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr13:77460092G>A ENST00000377474.2 - 1 433 c.192C>T c.(190-192)ttC>ttT p.F64F KCTD12_ENST00000317765.2_Silent_p.F64F NM_138444.3 NP_612453.1 Q96CX2 KCD12_HUMAN potassium channel tetramerization domain containing 12 64 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) GCTGCTGCGTGAACATGCGCC 0.662000 5 12 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595703 82595703 + Missense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:82595703G>T ENST00000423517.2 - 4 3738 c.3401C>A c.(3400-3402)gCa>gAa p.A1134E PCLO_ENST00000333891.8_Missense_Mutation_p.A1134E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1073 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.A1134V(2)|p.A1073V(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CATAGGAGATGCTTTGGGTCC 0.423000 13 76 0.00010058 0.000104524 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81978949 81978949 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:81978949C>G ENST00000356860.3 - 2 450 c.112G>C c.(112-114)Gat>Cat p.D38H CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D38H|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D38H NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 38 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCATCTTATCCACCCATGAT 0.368000 11 71 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220102441 220102441 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:220102441C>T ENST00000295759.7 - 16 1795 c.1482G>A c.(1480-1482)ttG>ttA p.L494L GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Silent_p.L404L|GLB1L_ENST00000356283.3_Silent_p.L404L|GLB1L_ENST00000392089.2_Silent_p.L494L Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 494 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGTGGCTTCAACAGGCCCT 0.433000 24 55 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32841311 32841311 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr13:32841311G>A ENST00000380250.3 + 55 8447 c.7951G>A c.(7951-7953)Gga>Aga p.G2651R FRY_ENST00000542859.1_Missense_Mutation_p.G21R NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2651 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTCCAGCTTTGGAGAAGGTGA 0.517000 11 93 0 0 1 0 0 GNB3 2784 broad.mit.edu 37 12 6952678 6952678 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:6952678C>G ENST00000229264.3 + 7 824 c.419C>G c.(418-420)tCt>tGt p.S140C GNB3_ENST00000435982.2_Missense_Mutation_p.S140C NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 140 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 CGGGAGCTTTCTGCTCACACA 0.597000 22 94 0 0 1 0 0 OR1S1 219959 broad.mit.edu 37 11 57982336 57982336 + Silent SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:57982336C>G ENST00000309433.6 + 1 120 c.120C>G c.(118-120)ctC>ctG p.L40L NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) AAAACCTCCTCTTTGTGCTTT 0.448000 43 110 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79291097 79291097 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:79291097C>G ENST00000419573.3 - 19 3139 c.2865G>C c.(2863-2865)ttG>ttC p.L955F RASGRF1_ENST00000558480.2_Missense_Mutation_p.L939F|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.L171F NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 957 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGAGCACGTTCAAGACACGAT 0.632000 14 88 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:7578403C>T ENST00000420246.2 - 5 659 c.527G>A c.(526-528)tGc>tAc p.C176Y TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652000 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) 25 31 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109677702 109677702 + Missense_Mutation SNP A A T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:109677702A>T ENST00000338432.7 + 35 4849 c.4730A>T c.(4729-4731)gAg>gTg p.E1577V ACACB_ENST00000543201.1_Missense_Mutation_p.E243V|ACACB_ENST00000377848.3_Missense_Mutation_p.E1577V|ACACB_ENST00000377854.5_Missense_Mutation_p.E1507V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1577 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GACGAGCTGGAGGTGGCGTTC 0.597000 16 82 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6239864 6239864 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr18:6239864G>C ENST00000400104.3 - 9 760 c.560C>G c.(559-561)cCa>cGa p.P187R L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P187R|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P187R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.P187R Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 187 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TTTAGACATTGGCCCATTCTA 0.468000 15 64 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76739009 76739009 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:76739009G>A ENST00000287239.4 + 10 2632 c.2143G>A c.(2143-2145)Gac>Aac p.D715N KAT6B_ENST00000372725.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D532N|KAT6B_ENST00000490365.1_3'UTR NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 715 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TGGGGTGGAAGACTGTGGCCG 0.378000 4 48 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49232825 49232825 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:49232825G>A ENST00000222145.4 - 5 1406 c.1202C>T c.(1201-1203)aCg>aTg p.T401M RASIP1_ENST00000594232.1_5'UTR NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 401 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CTGCTCTCGCGTCATCACATA 0.557000 3 15 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20535220 20535220 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:20535220G>A ENST00000504154.1 + 18 1966 c.1714G>A c.(1714-1716)Gat>Aat p.D572N SLIT2_ENST00000503823.1_Missense_Mutation_p.D564N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D568N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D576N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 572 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TAAGATCACAGATATTGAGGA 0.318000 6 54 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263604 140263604 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:140263604C>T ENST00000289272.2 + 1 1751 c.1751C>T c.(1750-1752)tCg>tTg p.S584L PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S584L NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCGCGGTCGGTGGGTGCA 0.687000 24 148 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50037079 50037079 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:50037079C>T ENST00000261897.1 + 22 2728 c.2177C>T c.(2176-2178)tCa>tTa p.S726L PRPF40B_ENST00000548825.2_Missense_Mutation_p.S760L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.S739L|FMNL3_ENST00000335154.5_3'UTR Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 739 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CGGAACCCCTCAGAGTCAGGC 0.607000 24 105 0 0 1 0 0 PRR15L 79170 broad.mit.edu 37 17 46030325 46030325 + Silent SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:46030325G>C ENST00000300557.2 - 2 526 c.276C>G c.(274-276)ctC>ctG p.L92L RP11-6N17.9_ENST00000582262.1_RNA NM_024320.3 NP_077296.1 Q9BU68 PR15L_HUMAN proline rich 15-like 92 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 GATCATCAAAGAGGTTAGGGT 0.542000 10 95 0 0 1 0 0 KIF7 374654 broad.mit.edu 37 15 90172250 90172250 + Silent SNP C C G rs138986036 byFrequency TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:90172250C>G ENST00000394412.3 - 18 3697 c.3621G>C c.(3619-3621)ctG>ctC p.L1207L NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 1207 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GCTTCTGTTTCAGTTCCTGGT 0.547000 21 120 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12978692 12978692 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:12978692C>T ENST00000251472.4 + 20 2506 c.2467C>T c.(2467-2469)Ccc>Tcc p.P823S NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 823 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GCGCAGGCCTCCCCGGCCCAG 0.736000 6 20 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81613830 81613830 + Missense_Mutation SNP C C T rs142377880 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:81613830C>T ENST00000548058.1 + 11 2399 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W ACSS3_ENST00000548324.1_Missense_Mutation_p.R179W|ACSS3_ENST00000261206.3_Missense_Mutation_p.R496W Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 497 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ACTGAAGGCTCGGTGTTTAGG 0.269000 8 63 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78593297 78593297 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:78593297C>G ENST00000397909.2 + 37 6874 c.6701C>G c.(6700-6702)tCt>tGt p.S2234C NAV3_ENST00000228327.6_Missense_Mutation_p.S2212C|NAV3_ENST00000266692.7_Missense_Mutation_p.S2035C|NAV3_ENST00000541270.1_Missense_Mutation_p.S64C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2212C Q8IVL0 NAV3_HUMAN neuron navigator 3 2234 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CACAGTTCTTCTGACGTTACC 0.373000 HNSCC(70;0.22) 8 57 0 0 1 0 0 LGI4 163175 broad.mit.edu 37 19 35616130 35616130 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:35616130G>C ENST00000310123.3 - 9 2100 c.1581C>G c.(1579-1581)atC>atG p.I527M LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 527 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GATGCTGGTAGATCTGTGTGG 0.652000 15 89 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113694784 113694784 + Nonsense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr8:113694784G>T ENST00000297405.5 - 16 2808 c.2564C>A c.(2563-2565)tCa>tAa p.S855* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S751*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S855*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S815* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 855 Sushi 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACTGAAATTGAACTTCCTAA 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 106 3.41278e-10 3.61755e-10 1 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140740503 140740503 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:140740503C>T ENST00000522605.1 + 1 801 c.801C>T c.(799-801)acC>acT p.T267T PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAGCCACCGACCGGGATG 0.493000 13 34 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331690 70331690 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:70331690C>T ENST00000338508.4 - 32 4710 c.4711G>A c.(4711-4713)Gaa>Aaa p.E1571K SHANK2_ENST00000409161.1_Missense_Mutation_p.E974K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E1191K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E975K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1191 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCTACATCTTCTTCCACGAGC 0.552000 135 1146 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756848 94756848 + Missense_Mutation SNP G G C rs2232697 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:94756848G>C ENST00000554723.1 - 2 621 c.203C>G c.(202-204)tCg>tGg p.S68W SERPINA10_ENST00000393096.1_Missense_Mutation_p.S28W|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S28W|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S28W Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 28 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.S28L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGTCTCTGGCGACTGAGGACT 0.642000 17 23 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47607908 47607908 + Splice_Site SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:47607908G>T ENST00000371891.3 + 4 541 c.e4+1 CYP4A22_ENST00000294337.3_Splice_Site|CYP4A22_ENST00000371890.3_Splice_Site|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGTGATGCTGGTGAGTCCATG 0.557000 8 66 0.000157383 0.000162916 1 1 0 RIMBP2 23504 broad.mit.edu 37 12 130912804 130912804 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:130912804C>T ENST00000261655.4 - 12 2444 c.2281G>A c.(2281-2283)Gag>Aag p.E761K NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 761 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGCTCCTCCTCGTCCTCCTCC 0.617000 26 60 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1855422 1855422 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:1855422G>C ENST00000399161.2 - 19 3512 c.2765C>G c.(2764-2766)tCt>tGt p.S922C MYT1L_ENST00000428368.2_Missense_Mutation_p.S920C NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 922 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CCTCCGATGAGAAGCATAATT 0.433000 13 112 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 104 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76740853 76740853 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:76740853C>T ENST00000393262.3 - 2 995 c.912G>A c.(910-912)caG>caA p.Q304Q NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 304 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 ATTTTACATTCTGACTATGTA 0.338000 Bardet-Biedl syndrome 6 24 0 0 1 0 0 CAPN2 824 broad.mit.edu 37 1 223943283 223943283 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:223943283C>G ENST00000295006.5 + 10 1546 c.1237C>G c.(1237-1239)Cag>Gag p.Q413E CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 413 Domain III. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) GGGGCTCATTCAGAAGCACCG 0.607000 27 52 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24480820 24480820 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:24480820C>T ENST00000355123.4 - 23 3268 c.2825G>A c.(2824-2826)gGa>gAa p.G942E ITSN2_ENST00000406921.3_Missense_Mutation_p.G942E|ITSN2_ENST00000361999.3_Missense_Mutation_p.G915E NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 942 SH3 2. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATCCTCTTCCTCCATGCAC 0.408000 13 90 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125432580 125432580 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:125432580C>T ENST00000544745.1 - 23 2908 c.2799G>A c.(2797-2799)ctG>ctA p.L933L DHX37_ENST00000308736.2_Intron Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 0 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCCCCTGCCTCAGTGACCCCA 0.597000 16 27 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242341 34242341 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr20:34242341C>G ENST00000374114.3 - 3 1167 c.904G>C c.(904-906)Gat>Cat p.D302H CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.D302H|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D302H|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 302 nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TACAGATCATCAGGGTTGATG 0.433000 33 74 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78531100 78531100 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:78531100C>G ENST00000397909.2 + 19 4758 c.4585C>G c.(4585-4587)Cgt>Ggt p.R1529G NAV3_ENST00000228327.6_Missense_Mutation_p.R1529G|NAV3_ENST00000266692.7_Missense_Mutation_p.R1352G|NAV3_ENST00000536525.2_Missense_Mutation_p.R1529G Q8IVL0 NAV3_HUMAN neuron navigator 3 1529 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.R1529S(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GGAAAGACCTCGTGCCATCAG 0.493000 HNSCC(70;0.22) 13 82 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186315292 186315292 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:186315292C>T ENST00000367478.3 - 23 3367 c.3071G>A c.(3070-3072)aGa>aAa p.R1024K NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1024 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTCTATGGCTCTTCTTTTATC 0.333000 T NTRK1 papillary thyroid 10 39 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116919891 116919891 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:116919891C>T ENST00000355044.3 + 6 1046 c.920C>T c.(919-921)tCa>tTa p.S307L ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.S307L NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 307 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) GGTCGGGCTTCACATAAAGCA 0.368000 13 106 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10439531 10439531 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:10439531C>T ENST00000293677.6 - 3 675 c.594G>A c.(592-594)atG>atA p.M198I NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 181 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) AGTCCTTCTTCATGTACTCAG 0.642000 7 32 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140532031 140532031 + Silent SNP A A G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:140532031A>G ENST00000231136.1 + 1 2193 c.2193A>G c.(2191-2193)ccA>ccG p.P731P PCDHB6_ENST00000543635.1_Silent_p.P595P NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 731 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCCCTTTCCAGGGCATCTGG 0.612000 18 211 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173957 207173957 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:207173957G>C ENST00000374423.3 + 5 5091 c.4705G>C c.(4705-4707)Gat>Cat p.D1569H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1569 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGAATGTATTGATATAGAAGA 0.358000 6 17 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19525298 19525298 + Nonsense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:19525298G>C ENST00000375267.2 - 4 506 c.503C>G c.(502-504)tCa>tGa p.S168* UBR4_ENST00000375226.2_Nonsense_Mutation_p.S168*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.S168*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.S168* Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 168 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CCCACCGTCTGAAAGTGTCTT 0.498000 33 89 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170938300 170938300 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:170938300C>G ENST00000272793.5 + 39 5664 c.5614C>G c.(5614-5616)Cat>Gat p.H1872D UBR3_ENST00000418381.1_Missense_Mutation_p.H1872D|UBR3_ENST00000392631.1_Missense_Mutation_p.H693D Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1872 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 GTGGATTTCTCATACTTTTGA 0.363000 7 55 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185550591 185550591 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:185550591C>T ENST00000308394.4 - 8 931 c.669G>A c.(667-669)ctG>ctA p.L223L CASP3_ENST00000517513.1_Silent_p.*183*|CASP3_ENST00000523916.1_Silent_p.L223L|CASP3_ENST00000393585.2_Silent_p.*183*|CASP3_ENST00000393588.4_Silent_p.*183* NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 223 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) CATACTGTTTCAGCATGGCAC 0.418000 23 49 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720688 140720688 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:140720688G>A ENST00000394576.2 + 1 2150 c.2150G>A c.(2149-2151)cGg>cAg p.R717Q PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGGCTGCGGCGCTGGCAC 0.647000 39 130 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36270066 36270066 + Nonsense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:36270066C>T ENST00000394571.2 + 6 1204 c.1204C>T c.(1204-1206)Cag>Tag p.Q402* PNPLA1_ENST00000312917.5_Nonsense_Mutation_p.Q316*|PNPLA1_ENST00000388715.3_Nonsense_Mutation_p.Q307* NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 402 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 TCTGTCACCTCAGCAGCAGGT 0.607000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 125 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188128 152188128 + Nonsense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:152188128G>A ENST00000368801.2 - 3 6052 c.5977C>T c.(5977-5979)Cga>Tga p.R1993* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1993 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGAGACTCTCGGTGACCTAAG 0.572000 68 1237 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878576 24878576 + Nonsense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:24878576C>T ENST00000382554.3 + 4 1894 c.1576C>T c.(1576-1578)Caa>Taa p.Q526* NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 526 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCCCGTGGCTCAAGGGGGGCT 0.567000 9 82 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42116199 42116199 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:42116199G>A ENST00000457542.2 + 29 4439 c.4153G>A c.(4153-4155)Gag>Aag p.E1385K MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E1224K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E1268K|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E1391K NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1391 p.E1385K(1) breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCCACCCCCTGAGAAGACTCC 0.637000 11 229 0 0 1 0 0 KCNK15 60598 broad.mit.edu 37 20 43378877 43378877 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr20:43378877C>T ENST00000372861.3 + 2 522 c.391C>T c.(391-393)Cgg>Tgg p.R131W NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 131 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CCTGGGCGAACGGCTGAACGC 0.692000 12 25 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59757989 59757989 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:59757989G>A ENST00000395125.1 + 2 261 c.238G>A c.(238-240)Gag>Aag p.E80K DAAM1_ENST00000360909.3_Missense_Mutation_p.E80K|DAAM1_ENST00000556135.1_Missense_Mutation_p.E80K|DAAM1_ENST00000351081.1_Missense_Mutation_p.E80K NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 80 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) ACTTCCAGCTGAGAAAAAATG 0.333000 14 27 0 0 1 0 0 ARMC6 93436 broad.mit.edu 37 19 19165128 19165128 + Nonsense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:19165128C>T ENST00000535612.1 + 6 1453 c.1021C>T c.(1021-1023)Cag>Tag p.Q341* ARMC6_ENST00000546344.1_Nonsense_Mutation_p.Q248*|ARMC6_ENST00000392336.3_Nonsense_Mutation_p.Q341*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.Q316*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.Q316* NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 341 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GAGCGGCGTTCAGGTATGAAG 0.617000 OREG0025376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 65 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168119691 168119691 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:168119691C>G ENST00000519560.1 - 29 3516 c.3097G>C c.(3097-3099)Gag>Cag p.E1033Q SLIT3_ENST00000404867.3_Missense_Mutation_p.E1033Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1040Q NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1033 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAATCACCTCGTCGCATAGC 0.577000 10 38 0 0 1 0 0 ZNF213 7760 broad.mit.edu 37 16 3188497 3188497 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:3188497G>A ENST00000396878.3 + 3 953 c.478G>A c.(478-480)Gca>Aca p.A160T ZNF213_ENST00000576416.1_Missense_Mutation_p.A160T|ZNF213_ENST00000416391.2_Silent_p.G26G|ZNF213_ENST00000574902.1_Missense_Mutation_p.A160T NM_001134655.1|NM_004220.2 NP_001128127.1|NP_004211.1 O14771 ZN213_HUMAN zinc finger protein 213 160 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 GACGGTGGGGGCACGGAGGCG 0.677000 9 61 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150817139 150817139 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:150817139C>T ENST00000397238.2 + 8 1035 c.1035C>T c.(1033-1035)atC>atT p.I345I AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000335367.3_Silent_p.I525I|AGAP3_ENST00000463381.1_Silent_p.I117I|AGAP3_ENST00000479901.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 309 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 CCCCCAGCATCAGCCAGCGGG 0.652000 16 74 0 0 1 0 0 OR2A2 442361 broad.mit.edu 37 7 143807504 143807504 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:143807504C>T ENST00000408979.2 + 1 898 c.829C>T c.(829-831)Cac>Tac p.H277Y NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) GTCCCTGTTTCACAGTGTCTT 0.507000 21 204 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65103405 65103405 + Missense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:65103405G>T ENST00000358691.5 - 31 5287 c.5121C>A c.(5119-5121)caC>caA p.H1707Q HELZ_ENST00000580168.1_Missense_Mutation_p.H1708Q NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GCGGTGGCCTGTGAGGCAATG 0.458000 31 173 1.80694e-10 1.92305e-10 1 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137376 40137376 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:40137376C>T ENST00000278198.2 - 2 2430 c.467G>A c.(466-468)cGa>cAa p.R156Q LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 156 regulation of axonogenesis integral to membrane protein binding p.R156Q(2) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GGGGTTGTTTCGCAACCAGAG 0.428000 8 70 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411726 126411726 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:126411726C>T ENST00000394329.3 + 17 13762 c.13749C>T c.(13747-13749)atC>atT p.I4583I FAT4_ENST00000335110.5_Silent_p.I2824I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4583 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AACCAGATATCATTGAAAGGG 0.478000 13 71 0 0 1 0 0 MFNG 4242 broad.mit.edu 37 22 37882050 37882050 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr22:37882050C>T ENST00000356998.3 - 1 389 c.166G>A c.(166-168)Gtc>Atc p.V56I MFNG_ENST00000416983.3_Missense_Mutation_p.V56I NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 56 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) GCAATGAAGACATCGTGTAGC 0.622000 19 63 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44626764 44626764 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:44626764C>T ENST00000332990.5 - 5 550 c.534G>A c.(532-534)atG>atA p.M178I NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 178 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 CAATGGCACTCATGCCATACA 0.493000 4 16 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41193186 41193186 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:41193186G>A ENST00000220509.5 + 4 2509 c.2170G>A c.(2170-2172)Gag>Aag p.E724K VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 724 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGAGCTGTATGAGGAGGCCGT 0.602000 25 54 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43933166 43933166 + Silent SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr20:43933166C>G ENST00000537548.1 - 4 589 c.345G>C c.(343-345)ctG>ctC p.L115L MATN4_ENST00000372754.1_Silent_p.L115L|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Silent_p.L115L|MATN4_ENST00000372756.1_Silent_p.L115L|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Silent_p.L115L|MATN4_ENST00000360607.5_Silent_p.L115L O95460 MATN4_HUMAN matrilin 4 115 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) ACTGGATTGCCAGTCCCGTCA 0.682000 10 23 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43770753 43770753 + Missense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:43770753C>G ENST00000372476.3 + 2 369 c.290C>G c.(289-291)tCg>tGg p.S97W TIE1_ENST00000538015.1_Missense_Mutation_p.S97W|TIE1_ENST00000441333.2_Missense_Mutation_p.S97W NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 97 Ig-like C2-type 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCCAAGCCCTCGGACCTCGTG 0.706000 15 21 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5948426 5948426 + Nonsense_Mutation SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:5948426C>G ENST00000379999.5 + 4 841 c.737C>G c.(736-738)tCa>tGa p.S246* FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Nonsense_Mutation_p.S195* NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 195 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 ATTCCTGACTCATACTATGGG 0.587000 12 34 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247582139 247582139 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:247582139G>C ENST00000366497.2 + 2 823 c.43G>C c.(43-45)Gag>Cag p.E15Q NLRP3_ENST00000391828.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000336119.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.E15Q NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 15 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAGGTACCTGGAGGACCTGGA 0.542000 7 81 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93588297 93588297 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr15:93588297C>T ENST00000329082.7 - 4 1555 c.1284G>A c.(1282-1284)ctG>ctA p.L428L RGMA_ENST00000538818.1_Silent_p.L319L|RGMA_ENST00000543599.1_Silent_p.L412L|RGMA_ENST00000556658.1_Silent_p.L319L|RGMA_ENST00000425933.2_Silent_p.L412L|RGMA_ENST00000557301.1_Silent_p.L436L|RGMA_ENST00000542321.2_Silent_p.L412L|RGMA_ENST00000557420.1_3'UTR NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 428 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GGGCCAGGGGCAGCCCCGCAG 0.667000 3 10 0 0 1 0 0 TMEM51 55092 broad.mit.edu 37 1 15541866 15541866 + Nonsense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:15541866G>T ENST00000428417.1 + 2 729 c.283G>T c.(283-285)Gag>Tag p.E95* TMEM51_ENST00000400796.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000376014.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000376008.2_Nonsense_Mutation_p.E95*|TMEM51_ENST00000434578.2_Nonsense_Mutation_p.E95* NM_001136217.1 NP_001129689.1 Q9NW97 TMM51_HUMAN transmembrane protein 51 95 integral to membrane breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2) 14 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) GCGGCAGGGCGAGGACCTGGC 0.652000 16 38 3.32936e-07 3.50111e-07 1 1 0 ALOX5 240 broad.mit.edu 37 10 45941106 45941106 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr10:45941106G>C ENST00000374391.2 + 14 2049 c.1996G>C c.(1996-1998)Gac>Cac p.D666H ALOX5_ENST00000542434.1_Missense_Mutation_p.D609H|RP11-67C2.2_ENST00000435635.1_RNA NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 666 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CTTGTCCCCAGACCGGATTCC 0.587000 14 123 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178369801 178369801 + Silent SNP C C G TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr5:178369801C>G ENST00000320129.3 + 2 312 c.9C>G c.(7-9)gtC>gtG p.V3V ZNF454_ENST00000519564.1_Silent_p.V3V NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GAATGGCTGTCAGCCACCTGC 0.537000 10 52 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16456780 16456780 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:16456780G>A ENST00000358432.5 - 15 2764 c.2610C>T c.(2608-2610)atC>atT p.I870I NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 870 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GCTTGTCCAGGATGCTGACGA 0.602000 12 74 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322525 4322525 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:4322525G>C ENST00000337872.4 + 8 1901 c.1780G>C c.(1780-1782)Gat>Cat p.D594H ZBTB49_ENST00000355834.3_Missense_Mutation_p.D472H|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D77H NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 CGAGAGCCCAGATGTGCTGGA 0.562000 9 54 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18658283 18658283 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:18658283G>C ENST00000433979.1 + 23 3204 c.3088G>C c.(3088-3090)Gga>Cga p.G1030R PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071R|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030R NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1030 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATTCATCCTGGGAGTATGTGA 0.383000 5 21 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33661222 33661222 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:33661222G>A ENST00000399362.4 - 12 1543 c.1190C>T c.(1189-1191)tCa>tTa p.S397L CLASP2_ENST00000461133.3_Missense_Mutation_p.S164L|CLASP2_ENST00000333778.6_Missense_Mutation_p.S174L|CLASP2_ENST00000313350.6_Missense_Mutation_p.S170L|CLASP2_ENST00000359576.5_Missense_Mutation_p.S397L|CLASP2_ENST00000480013.1_Missense_Mutation_p.S164L|CLASP2_ENST00000487200.1_Missense_Mutation_p.S170L|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000468888.2_Missense_Mutation_p.S398L|CLASP2_ENST00000539981.1_Missense_Mutation_p.S149L NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 398 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 CAAAACTGTTGAAAGGTGGCT 0.323000 3 8 0 0 1 0 0 VSIG10 54621 broad.mit.edu 37 12 118520021 118520021 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:118520021G>A ENST00000359236.5 - 3 851 c.575C>T c.(574-576)tCg>tTg p.S192L NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 192 Ig-like C2-type 2. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GAGGTTTGGCGATATCAGTAA 0.517000 19 110 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45127156 45127156 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:45127156G>C ENST00000296129.1 - 9 2619 c.2485C>G c.(2485-2487)Cag>Gag p.Q829E NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 829 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) ATGGGCTCCTGAGTGTTCAGT 0.522000 27 106 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342732 122342732 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:122342732G>A ENST00000434824.1 - 1 289 c.73C>T c.(73-75)Cta>Tta p.L25L CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Silent_p.L25L|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 25 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 CTAAGTAGTAGAAAGATACTA 0.403000 5 22 0 0 1 0 0 ATF7 11016 broad.mit.edu 37 12 53911088 53911088 + Nonsense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:53911088G>A ENST00000420353.2 - 12 1434 c.1285C>T c.(1285-1287)Cag>Tag p.Q429* RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000456903.4_Nonsense_Mutation_p.Q429*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.Q440*|ATF7_ENST00000546661.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000415113.1_Nonsense_Mutation_p.Q408*|ATF7_ENST00000548446.2_Nonsense_Mutation_p.Q440* NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 440 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 GAGCTGTGCTGAATCACAGGG 0.562000 9 34 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18255834 18255834 + Missense_Mutation SNP T T C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr19:18255834T>C ENST00000262811.5 + 23 2747 c.2747T>C c.(2746-2748)cTc>cCc p.L916P AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 916 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GGCGGCCCCCTCATGAGCCCC 0.692000 10 41 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62022765 62022765 + Silent SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:62022765G>C ENST00000578147.1 - 19 3751 c.3675C>G c.(3673-3675)gtC>gtG p.V1225V SCN4A_ENST00000435607.1_Silent_p.V1225V P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1225 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGTCGTAGTTGACCTTGACAT 0.617000 63 93 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79656513 79656513 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:79656513G>C ENST00000275034.4 - 37 4452 c.4285C>G c.(4285-4287)Ctt>Gtt p.L1429V PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1429 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TGAAAACGAAGAGCAGATTTA 0.348000 6 49 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52711548 52711548 + Missense_Mutation SNP C C T rs149581248 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr12:52711548C>T ENST00000293670.3 - 4 729 c.667G>A c.(667-669)Gcc>Acc p.A223T NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 223 Coil 1B.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CGGAGGTAGGCGCAGTCCACA 0.627000 30 122 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180031466 180031466 + Missense_Mutation SNP C C A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:180031466C>A ENST00000367607.3 + 26 5792 c.5374C>A c.(5374-5376)Cag>Aag p.Q1792K NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1792 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CATAAAACTACAGGAGAAATT 0.403000 3 17 0.115264 0.115701 1 1 0 KRT12 3859 broad.mit.edu 37 17 39021192 39021192 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:39021192G>A ENST00000251643.4 - 3 696 c.673C>T c.(673-675)Cgc>Tgc p.R225C NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 225 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity p.R225C(2) central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) ACGCCCTGGCGCAGGGCCAGT 0.552000 15 67 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57760012 57760012 + Silent SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:57760012G>A ENST00000360716.3 + 14 2012 c.1791G>A c.(1789-1791)gcG>gcA p.A597A CCDC135_ENST00000336825.8_Silent_p.A532A|CCDC135_ENST00000394337.4_Silent_p.A597A Q8IY82 CC135_HUMAN coiled-coil domain containing 135 597 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GCAACCCAGCGAAGCCCGCGG 0.602000 7 23 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74729454 74729454 + Missense_Mutation SNP C C A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:74729454C>A ENST00000308807.7 - 2 665 c.202G>T c.(202-204)Gcc>Tcc p.A68S MLKL_ENST00000306247.7_Missense_Mutation_p.A68S NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 68 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TCCTCCAGGGCAGCCTTGAAG 0.512000 8 59 1.12685e-05 1.17565e-05 1 1 0 RNF216 54476 broad.mit.edu 37 7 5800679 5800679 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:5800679C>T ENST00000425013.2 - 2 246 c.22G>A c.(22-24)Gaa>Aaa p.E8K RNF216_ENST00000389902.3_Missense_Mutation_p.E8K NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 8 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATTACCTCTTCATTGTTGTTT 0.388000 8 48 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140270652 140270652 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr4:140270652C>T ENST00000296543.5 + 7 1051 c.728C>T c.(727-729)gCt>gTt p.A243V NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.A243V NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 243 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTGGAAGATGCTGCAGATGTT 0.338000 4 18 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73729698 73729698 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:73729698G>A ENST00000200181.3 + 13 1769 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K ITGB4_ENST00000450894.3_Missense_Mutation_p.E528K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E528K|ITGB4_ENST00000579662.1_Missense_Mutation_p.E528K|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E528K NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 528 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GTGCTACGGCGAAGGCCGCTA 0.632000 24 90 0 0 1 0 0 CRYGS 1427 broad.mit.edu 37 3 186256703 186256703 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:186256703G>C ENST00000392499.2 - 4 658 c.319C>G c.(319-321)Cag>Gag p.Q107E CRYGS_ENST00000307944.5_Missense_Mutation_p.Q107E NM_017541.2 NP_060011.1 P22914 CRBS_HUMAN crystallin, gamma S 107 Beta/gamma crystallin 'Greek key' 3. structural constituent of eye lens endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 11 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) TCATACATCTGACCACTAAAA 0.433000 7 35 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183091075 183091075 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr1:183091075G>C ENST00000258341.4 + 12 2465 c.2208G>C c.(2206-2208)gaG>gaC p.E736D NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 736 Laminin EGF-like 6. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGATCCTGAGACAGGTGAGA 0.438000 14 29 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331681 70331681 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:70331681C>T ENST00000338508.4 - 32 4719 c.4720G>A c.(4720-4722)Gat>Aat p.D1574N SHANK2_ENST00000409161.1_Missense_Mutation_p.D977N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1194N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D978N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1194 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.D978H(1)|p.D1574H(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACAAAGCTATCTACATCTTCT 0.562000 129 1061 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79650558 79650558 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr6:79650558C>T ENST00000275034.4 - 40 5485 c.5318G>A c.(5317-5319)cGa>cAa p.R1773Q PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1773 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AGCTGTCCTTCGACCTTGATT 0.413000 13 85 0 0 1 0 0 ATP6V1F 9296 broad.mit.edu 37 7 128503037 128503037 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr7:128503037G>A ENST00000492758.1 + 1 80 c.79G>A c.(79-81)Gag>Aag p.E27K ATP6V1F_ENST00000249289.4_Missense_Mutation_p.E27K NM_001198909.1 NP_001185838.1 Q16864 VATF_HUMAN ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F 27 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism lung(1)|ovary(1)|prostate(1) 3 CGGCATAGGGGAGCTTAACAA 0.587000 OREG0018299 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 76 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70200478 70200478 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr11:70200478C>T ENST00000253925.7 + 17 2450 c.2235C>T c.(2233-2235)tcC>tcT p.S745S PPFIA1_ENST00000389547.3_Silent_p.S745S|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 745 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CGCCTTCCTCCCCGAGAGCCC 0.562000 9 416 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134292163 134292163 + Silent SNP T T C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chrX:134292163T>C ENST00000344129.2 - 4 724 c.498A>G c.(496-498)gcA>gcG p.A166A CXorf48_ENST00000276241.6_Silent_p.A166A NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 166 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) TCACAGAAGTTGCCTTGATGT 0.418000 15 32 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15692843 15692843 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:15692843C>T ENST00000396368.3 - 26 5058 c.4852G>A c.(4852-4854)Gac>Aac p.D1618N KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1618N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1615N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1453N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1306N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1615N NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1617 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GGGGAGTCGTCGGTCAGGCGG 0.652000 14 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433158 179433158 + Missense_Mutation SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr2:179433158C>T ENST00000589042.1 - 326 77925 c.77701G>A c.(77701-77703)Gat>Aat p.D25901N TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24260N|TTN_ENST00000359218.5_Missense_Mutation_p.D16961N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17028N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16836N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23333N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24260 Fibronectin type-III 88. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGACGTCATCAAATTTAACA 0.393000 9 36 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124746348 124746348 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:124746348G>A ENST00000311127.4 - 3 681 c.614C>T c.(613-615)tCa>tTa p.S205L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 205 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 AAGACTTTCTGAGGCTGAAAA 0.423000 12 29 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7012122 7012122 + Missense_Mutation SNP G G A TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr18:7012122G>A ENST00000389658.3 - 24 3472 c.3379C>T c.(3379-3381)Cct>Tct p.P1127S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1127 Laminin EGF-like 13. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGCACTGAGGACCAAAGACA 0.517000 19 21 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108278852 108278852 + Silent SNP C C T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr3:108278852C>T ENST00000295746.8 - 15 1927 c.1851G>A c.(1849-1851)gtG>gtA p.V617V KIAA1524_ENST00000491772.1_Silent_p.V458V NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 617 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGATATTCTCACATCACAAA 0.254000 5 35 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 8 98 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 3 4 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 271 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183626 + RNA DEL TT TT - rs11296516 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr16:81183625_81183626delTT ENST00000525539.1 - 0 4553 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttt 0.465 3 3 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 4 5 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7f0cb9f-e525-44b3-a405-8b211dd44b8a 6b63db96-19a4-4904-9cb2-b4f584de603d g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 2 4 --- --- --- ---