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 ST6GALNAC3 256435 broad.mit.edu 37 1 76877767 76877767 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:76877767T>G ENST00000328299.3 + 3 436 c.288T>G c.(286-288)aaT>aaG p.N96K ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 96 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 AGGTGGGAAATGAGATAGATC 0.473000 4 16 0 0 1.23904e-05 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736333 12736333 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:12736333G>A ENST00000380682.1 + 16 3894 c.3388G>A c.(3388-3390)Gaa>Aaa p.E1130K NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1130 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CGAAGGGAAGGAAGAAGGAGC 0.517000 73 48 0 0 0.000147903 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841468 8841468 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:8841468C>T ENST00000324060.2 + 1 153 c.78C>T c.(76-78)ctC>ctT p.L26L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CACGCCAGCTCCTCTTCTCCC 0.527000 13 44 0 0 0.000151284 0 0 SLC35B1 10237 broad.mit.edu 37 17 47781575 47781575 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:47781575G>A ENST00000240333.6 - 6 663 c.542C>T c.(541-543)aCc>aTc p.T181I SLC35B1_ENST00000415270.2_Missense_Mutation_p.T218I P78383 S35B1_HUMAN solute carrier family 35, member B1 181 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 TCCATCCAGGGTCAGCGATAA 0.537000 11 48 0 0 0.00010058 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613923 27613923 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:27613923C>T ENST00000225388.4 - 2 1147 c.1089G>A c.(1087-1089)aaG>aaA p.K363K NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 363 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TGAGGTTTTCCTTAACTTTGC 0.403000 73 47 0 0 0.000147903 0 0 BAI2 576 broad.mit.edu 37 1 32205127 32205127 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:32205127G>A ENST00000373658.3 - 15 2618 c.2277C>T c.(2275-2277)ctC>ctT p.L759L BAI2_ENST00000257070.4_Silent_p.L759L|BAI2_ENST00000398547.1_Silent_p.L692L|BAI2_ENST00000373655.2_Silent_p.L759L|BAI2_ENST00000440175.2_Silent_p.L401L|BAI2_ENST00000398542.1_Silent_p.L692L|BAI2_ENST00000398556.3_Silent_p.L707L|BAI2_ENST00000398538.1_Silent_p.L747L|BAI2_ENST00000527361.1_Silent_p.L759L NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 759 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TGGGCAGGAAGAGGCGGTCCT 0.682000 5 34 0 0 1.23904e-05 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736134 140736134 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:140736134C>T ENST00000571252.1 + 1 1367 c.1367C>T c.(1366-1368)tCc>tTc p.S456F PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCATGCTTCCTACTCTGCT 0.483000 45 48 0 0 0.000125731 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19276199 19276199 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:19276199G>A ENST00000454498.2 - 8 2208 c.1195C>T c.(1195-1197)Cat>Tat p.H399Y CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.H399Y|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.H399Y|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.H399Y|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.H399Y NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 399 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) ACTGCATCATGGTGGCCGTAT 0.453000 17 28 0 0 9.7654e-05 0 0 FLT4 2324 broad.mit.edu 37 5 180036966 180036966 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:180036966G>A ENST00000261937.6 - 28 3824 c.3746C>T c.(3745-3747)tCc>tTc p.S1249F FLT4_ENST00000502649.1_Missense_Mutation_p.S1249F|FLT4_ENST00000393347.3_Missense_Mutation_p.S1249F NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 1249 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.S1249F(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CATCCTGGAGGAACCACGGGT 0.577000 21 76 0 0 0.00047179 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858016 9858016 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:9858016G>A ENST00000396573.2 - 14 3694 c.3385C>T c.(3385-3387)Cac>Tac p.H1129Y GRIN2A_ENST00000396575.2_Missense_Mutation_p.H1129Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.H1129Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H972Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H1129Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H1129Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1129 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 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) GGATCTAAGTGGAAACCAGGC 0.522000 14 83 0 0 0.000219431 0 0 JPH1 56704 broad.mit.edu 37 8 75227821 75227821 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:75227821C>T ENST00000342232.4 - 2 454 c.414G>A c.(412-414)cgG>cgA p.R138R NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 138 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CGTAGCCATGCCGCATGCCTC 0.677000 13 33 0 0 5.01169e-05 0 0 OTOGL 283310 broad.mit.edu 37 12 80765802 80765802 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:80765802G>A ENST00000458043.2 + 56 6718 c.6712G>A c.(6712-6714)Gaa>Aaa p.E2238K OTOGL_ENST00000547103.1_Missense_Mutation_p.E2226K|OTOGL_ENST00000546620.1_Missense_Mutation_p.E257K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTCTAGAATGAAGGGATTGT 0.308000 10 43 0 0 3.86212e-05 0 0 CLVS1 157807 broad.mit.edu 37 8 62370879 62370879 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:62370879G>A ENST00000519846.1 + 6 1227 c.755G>A c.(754-756)gGa>gAa p.G252E CLVS1_ENST00000325897.4_Missense_Mutation_p.G252E|CLVS1_ENST00000518592.1_5'UTR Q8IUQ0 CLVS1_HUMAN clavesin 1 252 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTCCTGCATGGAAACAATTTA 0.378000 60 123 0 0 0.000147903 0 0 CBX8 57332 broad.mit.edu 37 17 77769887 77769887 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:77769887C>T ENST00000269385.4 - 4 332 c.215G>A c.(214-216)cGt>cAt p.R72H CBX8_ENST00000485449.1_5'UTR NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 72 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTTGGGTCCACGCTTTTTGGG 0.517000 41 191 0 0 0.000147903 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270426 1270426 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:1270426C>G ENST00000348261.5 + 35 6742 c.6494C>G c.(6493-6495)cCt>cGt p.P2165R CACNA1H_ENST00000358590.4_Missense_Mutation_p.P2159R|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P2159R NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2165 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) AGCGGGGAGCCTGGGGAGGCG 0.716000 4 23 0 0 1.23904e-05 0 0 ISX 91464 broad.mit.edu 37 22 35478548 35478548 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:35478548C>T ENST00000308700.6 + 2 1219 c.267C>T c.(265-267)ttC>ttT p.F89F ISX_ENST00000404699.2_Silent_p.F89F NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 89 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GTACCACCTTCACCACTGAGC 0.562000 18 51 0 0 0.000132079 0 0 RPL26L1 51121 broad.mit.edu 37 5 172386879 172386879 + Translation_Start_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:172386879G>A ENST00000521476.1 + 2 127 c.3G>A c.(1-3)atG>atA p.M1I RPL26L1_ENST00000519974.1_Start_Codon_SNP_p.M1I|RPL26L1_ENST00000265100.2_Start_Codon_SNP_p.M1I|RPL26L1_ENST00000519239.1_Start_Codon_SNP_p.M1I Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 1 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGTCACCATGAAGTTCAATC 0.562000 OREG0017052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 68 0 0 0.000147903 0 0 SLC2A3 6515 broad.mit.edu 37 12 8083865 8083865 + Silent SNP G G A rs150412980 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:8083865G>A ENST00000075120.7 - 4 726 c.486C>T c.(484-486)atC>atT p.I162I NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 162 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TTCCAACAACGATGCCCAGCT 0.478000 25 19 0 0 0.000117367 0 0 FBXO42 54455 broad.mit.edu 37 1 16577258 16577258 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:16577258T>C ENST00000375592.3 - 10 2277 c.2061A>G c.(2059-2061)gaA>gaG p.E687E NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 687 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ATATGATGAGTTCACCCCTGC 0.448000 33 129 0 0 0.000132358 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529836 5529836 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:5529836C>T ENST00000311659.4 - 2 1100 c.953G>A c.(952-954)gGa>gAa p.G318E HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 318 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCCTGCCTTCCTTGCCTGCT 0.502000 9 33 0 0 3.86212e-05 0 0 MALAT1 378938 broad.mit.edu 37 11 65266456 65266456 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:65266456G>A ENST00000534336.1 + 0 1224 NR_002819.2 GAAGGTGATCGAATTCCGGTG 0.498000 33 92 0 0 0.000228196 0 0 AADACL3 126767 broad.mit.edu 37 1 12785497 12785497 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:12785497T>G ENST00000332530.3 + 3 603 c.377T>G c.(376-378)tTt>tGt p.F126C AADACL3_ENST00000359318.5_Missense_Mutation_p.F196C NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 196 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGCTACTGTTTTTTTCAAAAC 0.468000 48 124 0 0 0.000147903 0 0 VPS13B 157680 broad.mit.edu 37 8 100796656 100796656 + Silent SNP G G A rs145460276 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:100796656G>A ENST00000358544.2 + 43 8079 c.7968G>A c.(7966-7968)gcG>gcA p.A2656A VPS13B_ENST00000357162.2_Silent_p.A2631A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2656 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCTGCTGGCGAGTCTCCACA 0.473000 13 38 0 0 0.00010058 0 0 OR52I1 390037 broad.mit.edu 37 11 4616195 4616195 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:4616195G>A ENST00000450052.2 + 2 999 c.999G>A c.(997-999)tgG>tgA p.W333* OR52I1_ENST00000530443.2_Nonsense_Mutation_p.W309* Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGGAATATGGAGTTATCTGA 0.463000 13 48 0 0 0.00010058 0 0 NWD1 284434 broad.mit.edu 37 19 16923560 16923560 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:16923560C>T ENST00000552788.1 + 17 4292 c.4292C>T c.(4291-4293)tCt>tTt p.S1431F NWD1_ENST00000524140.2_Intron|NWD1_ENST00000549814.1_Missense_Mutation_p.S1389F|NWD1_ENST00000339803.6_Missense_Mutation_p.S1296F|NWD1_ENST00000523826.1_Missense_Mutation_p.S1225F|NWD1_ENST00000379808.3_Intron Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1431 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAACAGAGTTCTTACTGCAGA 0.393000 39 137 0 0 0.000437636 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717102 142717102 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:142717102C>T ENST00000381779.4 - 2 2048 c.1823G>A c.(1822-1824)cGa>cAa p.R608Q SLITRK4_ENST00000338017.4_Missense_Mutation_p.R608Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R608Q NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 608 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGGACTTCGAATGGGACC 0.418000 16 22 0 0 0.000308642 0 0 KRT83 3889 broad.mit.edu 37 12 52711486 52711486 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:52711486G>A ENST00000293670.3 - 4 791 c.729C>T c.(727-729)ttC>ttT p.F243F NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 243 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) GCCGCCTCAGGAAGTCAATCT 0.627000 11 63 0 0 0.000308642 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962238 69962238 + Translation_Start_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:69962238G>A ENST00000305231.7 + 0 46 UGT2B7_ENST00000508661.1_De_novo_Start_InFrame|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATTGCACCAGGATGTCTGTGA 0.403000 8 27 0 0 0.000274275 0 0 ZFAT 57623 broad.mit.edu 37 8 135614365 135614365 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:135614365C>T ENST00000520727.1 - 7 1860 c.1561G>A c.(1561-1563)Gaa>Aaa p.E521K ZFAT_ENST00000377838.3_Missense_Mutation_p.E533K|ZFAT_ENST00000520214.1_Missense_Mutation_p.E521K|ZFAT_ENST00000523399.1_Missense_Mutation_p.E471K|ZFAT_ENST00000429442.2_Missense_Mutation_p.E521K|ZFAT_ENST00000520356.1_Missense_Mutation_p.E521K NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CAGGCCTCTTCCTTGAGTGCA 0.652000 5 10 0 0 3.59834e-05 0 0 MECOM 2122 broad.mit.edu 37 3 168807855 168807855 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:168807855C>T ENST00000464456.1 - 13 3943 c.2743G>A c.(2743-2745)Gga>Aga p.G915R MECOM_ENST00000433243.2_Missense_Mutation_p.G925R|MECOM_ENST00000468789.1_Missense_Mutation_p.G924R|MECOM_ENST00000264674.3_Missense_Mutation_p.G989R|MECOM_ENST00000472280.1_Missense_Mutation_p.G925R|MECOM_ENST00000460814.1_Missense_Mutation_p.G915R|MECOM_ENST00000494292.1_Missense_Mutation_p.G1103R|MECOM_ENST00000392736.3_Missense_Mutation_p.G924R NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TCAGGGTTTCCTTCATGTAAA 0.423000 5 61 0 0 1.23904e-05 0 0 ZNF300 91975 broad.mit.edu 37 5 150275090 150275090 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:150275090G>A ENST00000446148.2 - 7 2186 c.1759C>T c.(1759-1761)Cat>Tat p.H587Y ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.H535Y|ZNF300_ENST00000394226.2_Missense_Mutation_p.H571Y|ZNF300_ENST00000274599.5_Missense_Mutation_p.H571Y NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCCCAGTATGAATCCTCTGA 0.433000 10 20 0 0 0.000442599 0 0 SPEF2 79925 broad.mit.edu 37 5 35763799 35763799 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:35763799C>T ENST00000440995.2 + 26 3781 c.3781C>T c.(3781-3783)Cac>Tac p.H1261Y CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.H1266Y Q9C093 SPEF2_HUMAN sperm flagellar 2 1266 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCAGTATCTCACATGGTAAG 0.413000 18 74 0 0 0.000229342 0 0 SLC6A3 6531 broad.mit.edu 37 5 1441591 1441591 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:1441591G>A ENST00000270349.9 - 3 428 c.301C>T c.(301-303)Ccc>Tcc p.P101S SLC6A3_ENST00000453492.2_Missense_Mutation_p.P101S NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 101 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGCAGGTAGGGGACCAGGAAG 0.597000 6 37 0 0 0.000274275 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870456 51870456 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:51870456G>A ENST00000371497.5 + 2 1346 c.459G>A c.(457-459)agG>agA p.R153R TSHZ2_ENST00000603338.2_Silent_p.R150R|TSHZ2_ENST00000329613.6_Silent_p.R150R NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 153 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) GTGAGAGGAGGAACTGTGACA 0.522000 20 98 0 0 9.22233e-05 0 0 LAMP1 3916 broad.mit.edu 37 13 113960916 113960916 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:113960916C>T ENST00000332556.4 + 2 372 c.178C>T c.(178-180)Cct>Tct p.P60S LAMP1_ENST00000397181.3_Missense_Mutation_p.P60S NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 60 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CAAGAGTGGCCCTAAGGTAGG 0.468000 6 31 0 0 8.12818e-05 0 0 MAPK10 5602 broad.mit.edu 37 4 87115540 87115540 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:87115540G>A ENST00000359221.3 - 3 541 c.15C>T c.(13-15)ttC>ttT p.F5F RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000395166.1_5'UTR|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_5'UTR|MAPK10_ENST00000361569.2_Silent_p.F5F|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Silent_p.F5F P53779 MK10_HUMAN mitogen-activated protein kinase 10 5 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor 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 cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AGTAGTATAAGAAATGGAGGC 0.318000 48 154 0 0 0.000147903 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490228 141490228 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:141490228G>A ENST00000247883.4 + 1 212 c.67G>A c.(67-69)Gga>Aga p.G23R NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 23 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) CGGTTTAATTGGAAATGGAAG 0.517000 45 40 0 0 0.000147903 0 0 RBM47 54502 broad.mit.edu 37 4 40438601 40438601 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:40438601G>A ENST00000381793.2 - 4 1583 c.1187C>T c.(1186-1188)tCc>tTc p.S396F RBM47_ENST00000295971.7_Missense_Mutation_p.S396F|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.S358F A0AV96 RBM47_HUMAN RNA binding motif protein 47 396 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCCGAGGTAGGAACCCCTAGG 0.502000 40 108 0 0 0.000147903 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130674570 130674570 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:130674570G>A ENST00000335791.5 - 4 863 c.588C>T c.(586-588)ttC>ttT p.F196F ST6GALNAC4_ENST00000343609.2_Silent_p.F112F|ST6GALNAC4_ENST00000495983.1_5'UTR NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 196 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 TCTCGTCCTGGAAGATCTGGT 0.642000 8 17 0 0 6.40141e-05 0 0 LPHN2 23266 broad.mit.edu 37 1 82446523 82446523 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:82446523G>A ENST00000370717.2 + 18 3362 c.3146_splice c.e18+1 p.G1049_splice LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370723.1_Splice_Site_p.G1036_splice|LPHN2_ENST00000370727.1_Splice_Site_p.G1049_splice|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000394879.1_Splice_Site_p.G1036_splice|LPHN2_ENST00000370725.1_Splice_Site_p.G1049_splice|LPHN2_ENST00000271029.4_Splice_Site_p.G1049_splice|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000335786.5_Intron O95490 LPHN2_HUMAN latrophilin 2 1034 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GACTTACCTGGGTAAGGTAGA 0.328000 5 60 0 0 1.23904e-05 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919929 12919929 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:12919929G>A ENST00000240189.2 + 3 756 c.669G>A c.(667-669)aaG>aaA p.K223K NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 223 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGATAAGAAAGCTTTATTGTT 0.388000 30 164 0 0 0.000227799 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013193 73013193 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:73013193C>T ENST00000308744.6 + 4 1331 c.1233C>T c.(1231-1233)atC>atT p.I411I NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I309I|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.I312I NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 411 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AACTGCAGATCATCAACATCT 0.473000 24 52 0 0 0.00047179 0 0 XDH 7498 broad.mit.edu 37 2 31595158 31595158 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:31595158G>A ENST00000379416.3 - 17 1840 c.1792C>T c.(1792-1794)Cct>Tct p.P598S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 598 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCGTAGCGAGGAATGTCGTCA 0.642000 29 92 0 0 0.000184323 0 0 RCN3 57333 broad.mit.edu 37 19 50040354 50040354 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:50040354G>A ENST00000270645.3 + 4 957 c.510G>A c.(508-510)cgG>cgA p.R170R NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 170 EF-hand 3. endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) GGGACGAGCGGCGTTTCCGGG 0.582000 23 157 0 0 9.22233e-05 0 0 HTR2C 3358 broad.mit.edu 37 X 114141205 114141205 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:114141205G>A ENST00000276198.1 + 6 1332 c.604G>A c.(604-606)Gtg>Atg p.V202M HTR2C_ENST00000371950.3_Missense_Mutation_p.R170H|HTR2C_ENST00000371951.1_Missense_Mutation_p.V202M NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 202 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAAGGTGTTCGTGAACAACAC 0.448000 18 31 0 0 0.000132079 0 0 KCNB2 9312 broad.mit.edu 37 8 73848248 73848248 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:73848248G>A ENST00000523207.1 + 3 1246 c.658G>A c.(658-660)Gaa>Aaa p.E220K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 220 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GGAGCTGCAGGAAACGGACGA 0.473000 48 191 0 0 0.000125731 0 0 KRT84 3890 broad.mit.edu 37 12 52779260 52779260 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:52779260G>A ENST00000257951.3 - 1 176 c.110C>T c.(109-111)tCc>tTc p.S37F RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 37 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) ACTCCAACAGGAGACAGAGTT 0.577000 13 50 0 0 0.000308642 0 0 SYNE1 23345 broad.mit.edu 37 6 152786511 152786511 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:152786511C>T ENST00000367255.5 - 18 2415 c.1814G>A c.(1813-1815)aGg>aAg p.R605K SYNE1_ENST00000448038.1_Missense_Mutation_p.R612K|SYNE1_ENST00000367253.4_Missense_Mutation_p.R605K|SYNE1_ENST00000495090.2_Missense_Mutation_p.R172K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R612K|SYNE1_ENST00000413186.2_Missense_Mutation_p.R605K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R605K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R612K|SYNE1_ENST00000367248.3_Missense_Mutation_p.R595K|SYNE1_ENST00000466159.2_Missense_Mutation_p.R605K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 605 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGCATGCTCCTCACACTCCT 0.448000 HNSCC(10;0.0054) 8 19 0 0 0.000274275 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215761 20215761 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:20215761C>T ENST00000331723.1 + 1 175 c.175C>T c.(175-177)Cct>Tct p.P59S NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTCCAATCTCCTATGTATTA 0.408000 7 21 0 0 3.86212e-05 0 0 RORB 6096 broad.mit.edu 37 9 77280476 77280476 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:77280476G>A ENST00000376896.2 + 7 1577 c.965G>A c.(964-966)gGa>gAa p.G322E RORB_ENST00000396204.2_Missense_Mutation_p.G333E NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 333 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 CTGTTTGAAGGAAAATATGGA 0.353000 20 90 0 0 0.000375601 0 0 MUC16 94025 broad.mit.edu 37 19 9005597 9005597 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:9005597C>T ENST00000397910.4 - 46 40012 c.39809G>A c.(39808-39810)gGa>gAa p.G13270E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13272 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGTAGGGTCCCAGCTCAGT 0.557000 10 95 0 0 3.86212e-05 0 0 CENPF 1063 broad.mit.edu 37 1 214813547 214813547 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:214813547G>C ENST00000366955.3 + 12 2034 c.1866G>C c.(1864-1866)tgG>tgC p.W622C NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 622 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.W622*(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTTCTTGTTGGAAAAGTGAAA 0.338000 9 74 0 0 3.86212e-05 0 0 TMED9 54732 broad.mit.edu 37 5 177022360 177022360 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:177022360C>T ENST00000332598.6 + 5 708 c.651C>T c.(649-651)atC>atT p.I217I NM_017510.4 NP_059980.2 Q9BVK6 TMED9_HUMAN transmembrane emp24 protein transport domain containing 9 217 transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGTGGCCATCGGTGTCTGGC 0.612000 28 58 0 0 8.91981e-05 0 0 TENM2 57451 broad.mit.edu 37 5 167631593 167631593 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:167631593C>T ENST00000519204.1 + 18 3546 c.3428C>T c.(3427-3429)cCc>cTc p.P1143L TENM2_ENST00000520394.1_Missense_Mutation_p.P1032L|TENM2_ENST00000545108.1_Missense_Mutation_p.P1264L|TENM2_ENST00000403607.2_Missense_Mutation_p.P1088L|TENM2_ENST00000518659.1_Missense_Mutation_p.P1264L teneurin transmembrane protein 2 CGCATCTTTCCCTCTCGAAAT 0.522000 13 47 0 0 0.000219431 0 0 HERC2P2 400322 broad.mit.edu 37 15 23326585 23326585 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:23326585G>A ENST00000560464.1 - 0 1795 GGAGACTGCGGATAAAGACCC 0.418000 18 175 0 0 0.000175454 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19418687 19418687 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:19418687A>G ENST00000538714.1 + 8 618 c.614A>G c.(613-615)gAg>gGg p.E205G PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E205G|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E205G|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E97G|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E97G|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E205G|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E205G|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E205G|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E205G NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 205 PH. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CTCTTAGATGAGAAAGAAGAG 0.318000 56 56 0 0 0.000147903 0 0 SCAF1 58506 broad.mit.edu 37 19 50150056 50150056 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:50150056C>T ENST00000360565.3 + 6 571 c.447C>T c.(445-447)ccC>ccT p.P149P NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 149 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GCCTGCTGCCCCGTCTCAGGG 0.642000 6 12 0 0 0.000157383 0 0 ZNF234 10780 broad.mit.edu 37 19 44661433 44661433 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:44661433C>T ENST00000426739.2 + 6 1522 c.1264C>T c.(1264-1266)Cac>Tac p.H422Y ZNF234_ENST00000592437.1_Missense_Mutation_p.H422Y NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TCTGGTAGTCCACACAGGGGA 0.428000 9 33 0 0 0.000274275 0 0 FAM69B 138311 broad.mit.edu 37 9 139616675 139616675 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:139616675G>A ENST00000371691.1 + 2 1243 c.144G>A c.(142-144)cgG>cgA p.R48R FAM69B_ENST00000371692.4_Silent_p.R135R|SNHG7_ENST00000414282.1_RNA Q5VUD6 FA69B_HUMAN family with sequence similarity 69, member B 135 endoplasmic reticulum membrane|integral to membrane NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1) 8 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) CCCCCCGGCGGGAGCTGGTAC 0.627000 5 15 0 0 3.59834e-05 0 0 SLCO1B7 338821 broad.mit.edu 37 12 21172187 21172187 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:21172187T>A ENST00000421593.2 + 2 91 c.91T>A c.(91-93)Ttg>Atg p.L31M SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron NM_001009562.4 NP_001009562.3 solute carrier organic anion transporter family, member 1B7 (non-functional) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TCTAGGAAATTTGTTTGTGAT 0.328000 15 11 0 0 0.000422831 0 0 IGSF1 3547 broad.mit.edu 37 X 130408581 130408581 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:130408581C>T ENST00000370904.1 - 24 4626 c.3716G>A c.(3715-3717)gGg>gAg p.G1239E IGSF1_ENST00000370910.1_Missense_Mutation_p.G1239E|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1253E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1248E Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1248 Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 ACCTGCTGCCCCCACCAGCTC 0.547000 13 22 0 0 0.00010058 0 0 SAMD7 344658 broad.mit.edu 37 3 169656285 169656285 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:169656285G>A ENST00000428432.2 + 9 1721 c.1332G>A c.(1330-1332)atG>atA p.M444I SAMD7_ENST00000335556.3_Missense_Mutation_p.M444I NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 444 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GAGGTAGTATGAGAAACTAAA 0.408000 5 15 0 0 8.12818e-05 0 0 RNF213 57674 broad.mit.edu 37 17 78337018 78337018 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:78337018T>C ENST00000582970.1 + 40 11615 c.11472T>C c.(11470-11472)cgT>cgC p.R3824R CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.R3873R|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.R1897R NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TCAGAAGCCGTCTGCAGAACT 0.547000 90 29 0 0 0.000147903 0 0 PTPRG 5793 broad.mit.edu 37 3 62180762 62180762 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:62180762C>T ENST00000474889.1 + 10 1622 c.1245C>T c.(1243-1245)ccC>ccT p.P415P PTPRG_ENST00000295874.10_Silent_p.P415P NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 415 Fibronectin type-III. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) ATGTCTCACCCGATAGCCTTT 0.502000 46 46 0 0 0.000147903 0 0 GDF2 2658 broad.mit.edu 37 10 48414365 48414365 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:48414365C>T ENST00000249598.1 - 2 662 c.503G>A c.(502-504)gGa>gAa p.G168E NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 168 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GACCACGCTTCCTTTCAGGTC 0.507000 17 24 0 0 0.000132079 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1344506 1344506 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:1344506A>C ENST00000320895.5 - 2 480 c.223T>G c.(223-225)Ttg>Gtg p.L75V CLPTM1L_ENST00000320927.6_Missense_Mutation_p.L75V NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 75 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) TCCACATTCAAGACCAGGTCG 0.512000 17 30 0 0 0.000175454 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015874 145015874 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:145015874G>A ENST00000369359.4 - 3 465 c.427C>T c.(427-429)Cga>Tga p.R143* PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.R72*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.R72*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.R143*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R143*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R72* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 6 K -> E (in dbSNP:rs1747958). cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCAAAGTCTCGAAGAGCCTGG 0.438000 T PDGFRB MPD 130 897 0 0 0.000147903 0 0 ABCA4 24 broad.mit.edu 37 1 94476861 94476861 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:94476861G>A ENST00000370225.3 - 39 5627 c.5541C>T c.(5539-5541)gaC>gaT p.D1847D ABCA4_ENST00000536513.1_Silent_p.D117D|ABCA4_ENST00000535881.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1847 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TCAGTGCAAGGTCAATGAGGC 0.602000 9 69 0 0 0.000274275 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681104 106681104 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:106681104C>T ENST00000526355.1 - 5 1775 c.1307G>A c.(1306-1308)cGa>cAa p.R436Q GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R436Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R457Q NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 436 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ATGTAGCCCTCGGCCCATGAG 0.463000 9 8 0 0 3.86212e-05 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29957542 29957542 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:29957542G>A ENST00000216121.7 - 6 786 c.532C>T c.(532-534)Ccc>Tcc p.P178S NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 178 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 CCCATTCTGGGCTGTGGCTCA 0.587000 22 63 0 0 0.000229342 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063417 76063417 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:76063417G>A ENST00000260045.3 - 5 882 c.777C>T c.(775-777)ttC>ttT p.F259F NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 259 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TAATGGAAAAGAAGTGTGAGT 0.438000 15 64 0 0 0.000422831 0 0 DGAT2 84649 broad.mit.edu 37 11 75501706 75501706 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:75501706G>A ENST00000228027.7 + 4 619 c.358_splice c.e4-1 p.G120_splice DGAT2_ENST00000376262.3_Splice_Site_p.G77_splice NM_032564.4 NP_115953.2 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 120 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) TCCCTGGAAGGTGGCAGGAGG 0.542000 14 93 0 0 7.07596e-05 0 0 SLC34A2 10568 broad.mit.edu 37 4 25673336 25673336 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:25673336C>T ENST00000382051.3 + 9 1091 c.1041C>T c.(1039-1041)atC>atT p.I347I SLC34A2_ENST00000504570.1_Silent_p.I346I|SLC34A2_ENST00000503434.1_Silent_p.I346I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 347 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) AGGAGAACATCGCCAAATGTG 0.507000 T ROS1 NSCLC 61 99 0 0 0.000147903 0 0 ZNF235 9310 broad.mit.edu 37 19 44791848 44791848 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:44791848G>A ENST00000291182.4 - 5 1842 c.1740C>T c.(1738-1740)ttC>ttT p.F580F ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 580 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) AAGCCTGACTGAAACCCTTAC 0.483000 16 22 0 0 0.000422831 0 0 PTPRT 11122 broad.mit.edu 37 20 40730799 40730799 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:40730799C>T ENST00000373198.3 - 27 3980 c.3745G>A c.(3745-3747)Gaa>Aaa p.E1249K PTPRT_ENST00000373187.1_Missense_Mutation_p.E1227K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1226K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E1236K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1217K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E1230K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1237K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1227 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.E1249*(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTGCTGGATTCTCCGTCCACT 0.547000 7 63 0 0 0.000442599 0 0 PSG11 5680 broad.mit.edu 37 19 43522923 43522923 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:43522923G>A ENST00000401740.1 - 3 811 c.709_splice c.e3+1 p.L236_splice PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Splice_Site_p.L114_splice|PSG11_ENST00000320078.7_Splice_Site_p.L236_splice|PSG11_ENST00000306322.7_Splice_Site_p.L114_splice Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 236 female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GATACTCACGGAGGAGATTCA 0.522000 34 125 0 0 0.000125731 0 0 FABP5 2171 broad.mit.edu 37 8 82196159 82196159 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:82196159G>A ENST00000396359.1 + 3 672 c.202G>A c.(202-204)Ggg>Agg p.G68R FABP5_ENST00000297258.6_Missense_Mutation_p.G102R Q01469 FABP5_HUMAN fatty acid binding protein 5 (psoriasis-associated) 102 epidermis development cytoplasm fatty acid binding|protein binding|transporter activity large_intestine(1)|lung(3) 4 Lung NSC(7;3.57e-05)|all_lung(9;0.00011) Epithelial(68;0.102) GGAGTGGGATGGGAAGGAAAG 0.398000 4 19 0 0 1.23904e-05 0 0 OR5P2 120065 broad.mit.edu 37 11 7817599 7817599 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:7817599C>T ENST00000329434.2 - 1 921 c.891G>A c.(889-891)ctG>ctA p.L297L RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTCTCTCTTCAGAGCCCCCT 0.408000 12 15 0 0 0.00010058 0 0 SP1 6667 broad.mit.edu 37 12 53776730 53776730 + Silent SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:53776730C>A ENST00000426431.2 + 3 1038 c.978C>A c.(976-978)acC>acA p.T326T SP1_ENST00000327443.4_Silent_p.T333T NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 333 Ser/Thr-rich.|Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CTACTACCACCAGCAACATGG 0.502000 6 74 5.18039e-06 0.000107805 0.000157383 1 0 KLK3 354 broad.mit.edu 37 19 51363270 51363270 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:51363270G>A ENST00000326003.2 + 5 714 c.673G>A c.(673-675)Ggt>Agt p.G225S KLK3_ENST00000595952.1_Missense_Mutation_p.G182S|KLK3_ENST00000360617.3_3'UTR NM_001030047.1|NM_001030048.1|NM_001648.2 NP_001025218.1|NP_001025219.1|NP_001639.1 P07288 KLK3_HUMAN kallikrein-related peptidase 3 225 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TGTGCTTCAAGGTATCACGTC 0.542000 14 41 0 0 0.000422831 0 0 NLRP5 126206 broad.mit.edu 37 19 56539262 56539262 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:56539262G>A ENST00000390649.3 + 7 1663 c.1663G>A c.(1663-1665)Gga>Aga p.G555R NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 555 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CATGGTTCAAGGACTCGGGGA 0.532000 7 28 0 0 0.000157383 0 0 TFAP4 7023 broad.mit.edu 37 16 4311932 4311932 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:4311932G>A ENST00000204517.6 - 4 701 c.373C>T c.(373-375)Ccc>Tcc p.P125S NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 125 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CGTCGCTTGGGGGACGAGCCG 0.652000 OREG0023575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 8 0 0 1.23904e-05 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922166 78922166 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:78922166G>A ENST00000261751.3 - 5 592 c.481C>T c.(481-483)Ccc>Tcc p.P161S CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 161 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 TGGTCGAAGGGAAAGTACTTC 0.562000 17 32 0 0 5.01169e-05 0 0 PPM1F 9647 broad.mit.edu 37 22 22279998 22279998 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:22279998A>C ENST00000407142.1 - 5 1485 c.425T>G c.(424-426)gTg>gGg p.V142G PPM1F_ENST00000397495.4_Missense_Mutation_p.V310G|PPM1F_ENST00000538191.1_Missense_Mutation_p.V206G|PPM1F_ENST00000263212.5_Missense_Mutation_p.V310G P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F 310 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) CATGTGAGACACAAAGCCACC 0.627000 6 7 0 0 0.000157383 0 0 PRSS1 5644 broad.mit.edu 37 7 142458473 142458473 + Silent SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:142458473C>A ENST00000486171.1 + 2 125 c.108C>A c.(106-108)ccC>ccA p.P36P PRSS1_ENST00000311737.7_Silent_p.P36P P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 36 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATTCTGTCCCCTACCAGGTGT 0.532000 8 120 0.000157383 0.00325516 0.000157383 1 0 ZNF335 63925 broad.mit.edu 37 20 44592254 44592254 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:44592254G>T ENST00000322927.2 - 9 1491 c.1391C>A c.(1390-1392)cCc>cAc p.P464H ZNF335_ENST00000426788.1_Missense_Mutation_p.P309H NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GCACAGGAAGGGCCTCAAAAG 0.572000 48 64 2.42921e-53 5.14496e-52 0.000147903 1 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901588 2901588 + Missense_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:2901588C>A ENST00000254695.8 + 14 1208 c.1118C>A c.(1117-1119)cCa>cAa p.P373Q RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P354Q|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P358Q|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P373Q NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 373 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CCGTTTGTCCCAGACATGATA 0.473000 9 103 0.000274275 0.00566128 0.000274275 1 0 UGT2B7 7364 broad.mit.edu 37 4 69978270 69978270 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:69978270G>A ENST00000305231.7 + 6 1452 c.1406G>A c.(1405-1407)cGc>cAc p.R469H UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 469 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTTGTCATGCGCCACAAAGGA 0.463000 19 63 0 0 9.7654e-05 0 0 ARAP3 64411 broad.mit.edu 37 5 141044616 141044616 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:141044616G>A ENST00000239440.4 - 19 2738 c.2673C>T c.(2671-2673)ttC>ttT p.F891F ARAP3_ENST00000513878.1_Silent_p.F553F|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.F793F NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 891 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCCATGCCGTGAAGTCCAGCC 0.652000 OREG0016871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 31 0 0 1.23904e-05 0 0 WDR47 22911 broad.mit.edu 37 1 109544928 109544928 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:109544928G>T ENST00000357672.3 - 6 1642 c.1267C>A c.(1267-1269)Caa>Aaa p.Q423K WDR47_ENST00000369962.3_Missense_Mutation_p.Q451K|WDR47_ENST00000361054.3_Missense_Mutation_p.Q423K|WDR47_ENST00000400794.3_Missense_Mutation_p.Q459K|WDR47_ENST00000369965.4_Missense_Mutation_p.Q452K O94967 WDR47_HUMAN WD repeat domain 47 451 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) AACATCTGTTGGTATATCTGC 0.408000 23 1002 0.00047179 0.00970853 0.00047179 1 0 JPH1 56704 broad.mit.edu 37 8 75227805 75227805 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:75227805G>A ENST00000342232.4 - 2 470 c.430C>T c.(430-432)Cgc>Tgc p.R144C NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 144 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) ACGCTCTGGCGCACGCCGTAG 0.682000 7 33 0 0 0.000157383 0 0 MAGEB1 4112 broad.mit.edu 37 X 30268784 30268784 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:30268784C>T ENST00000378981.3 + 4 495 c.174C>T c.(172-174)ccC>ccT p.P58P MAGEB1_ENST00000397548.2_Silent_p.P58P|MAGEB1_ENST00000397550.1_Silent_p.P58P NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 58 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CTGGCATTCCCCAGAAGCCTC 0.567000 5 4 0 0 1.23904e-05 0 0 THADA 63892 broad.mit.edu 37 2 43625235 43625235 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:43625235G>A ENST00000405006.4 - 29 4453 c.4102C>T c.(4102-4104)Cgt>Tgt p.R1368C THADA_ENST00000485353.1_5'UTR|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.R1049C|THADA_ENST00000405975.2_Missense_Mutation_p.R1368C NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1368 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) ACCAAGGCACGAGCTGCCATT 0.468000 81 178 0 0 0.000147903 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135922 32135922 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:32135922C>T ENST00000312561.4 + 4 2447 c.2033C>T c.(2032-2034)tCc>tTc p.S678F KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 ACCTGTCTTTCCCTGTGGAAA 0.423000 23 25 0 0 0.000375601 0 0 KCNIP1 30820 broad.mit.edu 37 5 170145872 170145872 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:170145872C>T ENST00000328939.4 + 2 709 c.172C>T c.(172-174)Cga>Tga p.R58* KCNIP1_ENST00000520740.1_Nonsense_Mutation_p.R30*|KCNIP1_ENST00000390656.4_Nonsense_Mutation_p.R58*|KCNIP1_ENST00000377360.4_Nonsense_Mutation_p.R67*|KCNIP1_ENST00000411494.1_Nonsense_Mutation_p.R69*|KCNIP1_ENST00000434108.1_Nonsense_Mutation_p.R58* NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 69 EF-hand 1; degenerate. detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity p.R69*(1) autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCCTTTATCGAGGCTTCAA 0.587000 15 37 0 0 0.000422831 0 0 OR2G3 81469 broad.mit.edu 37 1 247769589 247769589 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:247769589G>A ENST00000320002.2 + 1 734 c.702G>A c.(700-702)agG>agA p.R234R RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAGAGGCAAGGCACAAAGCCT 0.468000 6 26 0 0 3.59834e-05 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616627 77616627 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:77616627A>C ENST00000521891.2 + 2 752 c.304A>C c.(304-306)Aat>Cat p.N102H ZFHX4_ENST00000518282.1_Missense_Mutation_p.N102H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N102H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N102H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 102 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) CCACTGCCCTAATGCCCGCCT 0.507000 HNSCC(33;0.089) 19 212 0 0 0.000375601 0 0 TPX2 22974 broad.mit.edu 37 20 30345338 30345338 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:30345338C>T ENST00000340513.4 + 3 587 c.59C>T c.(58-60)tCa>tTa p.S20L TPX2_ENST00000300403.6_Missense_Mutation_p.S20L Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 20 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATCAATTTTTCATCCTTGGAT 0.403000 14 74 0 0 0.000308642 0 0 DGKI 9162 broad.mit.edu 37 7 137257540 137257540 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:137257540G>A ENST00000453654.1 - 18 1445 c.906C>T c.(904-906)ttC>ttT p.F302F DGKI_ENST00000288490.5_Silent_p.F602F|DGKI_ENST00000446122.1_Silent_p.F602F|DGKI_ENST00000424189.2_Silent_p.F602F O75912 DGKI_HUMAN diacylglycerol kinase, iota 602 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CTATACACTGGAACTTCAGTT 0.373000 74 72 0 0 0.000147903 0 0 APC 324 broad.mit.edu 37 5 112178058 112178058 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:112178058C>T ENST00000457016.1 + 16 7147 c.6767C>T c.(6766-6768)cCa>cTa p.P2256L APC_ENST00000508376.2_Missense_Mutation_p.P2256L|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P2256L P25054 APC_HUMAN adenomatous polyposis coli 2256 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CTTAAGACTCCAGCCTCCAAA 0.478000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 21 29 0 0 0.000295444 0 0 FARP1 10160 broad.mit.edu 37 13 99063075 99063075 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:99063075T>C ENST00000376586.2 + 15 2026 c.1690T>C c.(1690-1692)Tcg>Ccg p.S564P FARP1_ENST00000595437.1_Missense_Mutation_p.S564P|FARP1_ENST00000319562.6_Missense_Mutation_p.S564P Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 564 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AGTTATCACTTCGGTATGTGC 0.423000 3 19 0 0 6.4e-05 0 0 VTA1 51534 broad.mit.edu 37 6 142519717 142519717 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:142519717C>T ENST00000367630.4 + 6 720 c.662C>T c.(661-663)cCa>cTa p.P221L VTA1_ENST00000452973.2_Missense_Mutation_p.P163L|VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000367621.1_Missense_Mutation_p.P163L NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 221 Interaction with VPS4B (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) GCACACGCTCCAGCTAATACA 0.433000 9 33 0 0 3.86212e-05 0 0 LPA 4018 broad.mit.edu 37 6 160962176 160962176 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:160962176G>A ENST00000447678.1 - 36 5677 c.5557C>T c.(5557-5559)Cca>Tca p.P1853S LPA_ENST00000484276.1_5'UTR|LPA_ENST00000316300.5_Missense_Mutation_p.P1853S NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4361 Kringle 17. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACCCACTCTGGGGATATTAAG 0.443000 17 53 0 0 0.000375601 0 0 RIMS2 9699 broad.mit.edu 37 8 104948865 104948865 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:104948865G>A ENST00000507740.1 + 10 2074 c.1838G>A c.(1837-1839)cGa>cAa p.R613Q RIMS2_ENST00000406091.3_Missense_Mutation_p.R821Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R599Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R660Q NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 883 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.R613Q(3)|p.R888Q(3)|p.R599Q(3) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCAGTCCACCGAAGAGAATTT 0.388000 HNSCC(12;0.0054) 43 124 0 0 0.000437636 0 0 TIPIN 54962 broad.mit.edu 37 15 66641719 66641719 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:66641719G>A ENST00000261881.4 - 5 430 c.345C>T c.(343-345)ttC>ttT p.F115F TIPIN_ENST00000367709.4_Silent_p.F14F NM_017858.2 NP_060328.2 Q9BVW5 TIPIN_HUMAN TIMELESS interacting protein 115 Interaction with TIMELESS. cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 GCAGTTTAGGGAATAGCCTAT 0.378000 16 176 0 0 0.000308642 0 0 PPFIA1 8500 broad.mit.edu 37 11 70171109 70171109 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:70171109G>T ENST00000253925.7 + 4 738 c.523G>T c.(523-525)Gat>Tat p.D175Y AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D175Y NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 175 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) CAAAGCTCTGGATGAAAAGGT 0.473000 21 82 6.12954e-19 1.29685e-17 9.22233e-05 1 0 ZYX 7791 broad.mit.edu 37 7 143080209 143080209 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:143080209T>G ENST00000322764.5 + 5 1162 c.817T>G c.(817-819)Ttt>Gtt p.F273V ZYX_ENST00000392910.2_Missense_Mutation_p.F116V|ZYX_ENST00000449423.2_Missense_Mutation_p.F186V|ZYX_ENST00000477373.1_3'UTR NM_001010972.1|NM_003461.4 NP_001010972.1|NP_003452.1 Q15942 ZYX_HUMAN zyxin 273 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) GACTCCTAAGTTTACTCCTGT 0.577000 12 202 0 0 6.40141e-05 0 0 ASTN1 460 broad.mit.edu 37 1 176838053 176838053 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:176838053G>A ENST00000367654.2 - 22 3611 c.3598C>T c.(3598-3600)Ctc>Ttc p.L1200F ASTN1_ENST00000361833.2_Missense_Mutation_p.L1192F|ASTN1_ENST00000424564.2_Missense_Mutation_p.L1192F|ASTN1_ENST00000367657.3_Missense_Mutation_p.L1192F O14525 ASTN1_HUMAN astrotactin 1 1200 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TAGTGGTAGAGGACCCGGTGT 0.493000 5 45 0 0 3.59834e-05 0 0 ANK2 287 broad.mit.edu 37 4 114279405 114279405 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:114279405G>A ENST00000357077.4 + 38 9684 c.9631G>A c.(9631-9633)Gaa>Aaa p.E3211K ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3178K|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3178 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGCCTCCACTGAAACACCTAC 0.488000 6 18 0 0 8.12818e-05 0 0 PLXNA2 5362 broad.mit.edu 37 1 208383671 208383671 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:208383671C>T ENST00000367033.3 - 3 2082 c.1325G>A c.(1324-1326)gGc>gAc p.G442D NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 442 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CACGCTGTAGCCGTTGTAAAC 0.542000 7 29 0 0 0.000274275 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669672 131669672 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:131669672C>T ENST00000259324.5 + 3 752 c.229C>T c.(229-231)Ccg>Tcg p.P77S LRRC8A_ENST00000372599.3_Missense_Mutation_p.P77S|LRRC8A_ENST00000372600.4_Missense_Mutation_p.P77S NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 77 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGCCCCTGGCCCGGAGCCCAC 0.612000 6 29 0 0 8.12818e-05 0 0 C20orf196 149840 broad.mit.edu 37 20 5843845 5843845 + Silent SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:5843845T>G ENST00000303142.6 + 3 441 c.354T>G c.(352-354)tcT>tcG p.S118S NM_152504.2 NP_689717.2 Q8IYI0 CT196_HUMAN chromosome 20 open reading frame 196 118 endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 ACTCACTCTCTGCATCTGTCT 0.498000 6 55 0 0 0.000442599 0 0 LEPR 3953 broad.mit.edu 37 1 66087038 66087038 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:66087038G>A ENST00000349533.6 + 18 2679 c.2494G>A c.(2494-2496)Gat>Aat p.D832N LEPR_ENST00000344610.8_Missense_Mutation_p.D832N|LEPR_ENST00000371058.1_Missense_Mutation_p.D832N|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.D832N|LEPR_ENST00000371060.3_Missense_Mutation_p.D832N NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 832 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTTTTCAGATGATATTGAAAA 0.289000 34 37 0 0 0.000132358 0 0 GC 2638 broad.mit.edu 37 4 72618257 72618257 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:72618257G>A ENST00000273951.8 - 11 1716 c.1373C>T c.(1372-1374)cCt>cTt p.P458L GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.P477L|GC_ENST00000513476.1_Missense_Mutation_p.P458L NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 458 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GTAAAGAGGAGGTGAGTTTAT 0.438000 4 27 0 0 0.00024832 0 0 C5orf58 133874 broad.mit.edu 37 5 169661161 169661161 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:169661161C>T ENST00000521850.1 + 1 1711 c.22C>T c.(22-24)Ctc>Ttc p.L8F C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.L8F C9J3I9 CE058_HUMAN chromosome 5 open reading frame 58 8 large_intestine(1)|lung(4)|urinary_tract(1) 6 TGCAGAAATTCTCCCTGCTCA 0.408000 20 74 0 0 0.000175454 0 0 RP1L1 94137 broad.mit.edu 37 8 10470537 10470537 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:10470537G>A ENST00000382483.3 - 4 1294 c.1071C>T c.(1069-1071)ccC>ccT p.P357P NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 357 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCCCAGAACGGGGTCTTCCC 0.677000 16 41 0 0 0.000422831 0 0 MUC5AC 4586 broad.mit.edu 37 11 1156652 1156652 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:1156652C>T ENST00000356191.2 + 10 661 c.661C>T c.(661-663)Cct>Tct p.P221S mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) TCAGCGAGCTCCTCTCCCACA 0.612000 9 18 0 0 0.000442599 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175784 71175784 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:71175784T>C ENST00000333538.5 + 10 2173 c.1539T>C c.(1537-1539)ggT>ggC p.G513G WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 513 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.G513G(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGCACTTGGGTGCCCTGGGGA 0.622000 20 63 0 0 7.16444e-05 0 0 WDR6 11180 broad.mit.edu 37 3 49050863 49050863 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:49050863C>T ENST00000395474.3 + 2 2266 c.1986C>T c.(1984-1986)ttC>ttT p.F662F WDR6_ENST00000448293.1_Silent_p.F581F|WDR6_ENST00000415265.2_Silent_p.F80F NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 632 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TCCTGGGTTTCCATGCCAATG 0.567000 5 32 0 0 1.23904e-05 0 0 MYH1 4619 broad.mit.edu 37 17 10401064 10401064 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:10401064C>T ENST00000226207.5 - 31 4446 c.4352G>A c.(4351-4353)aGg>aAg p.R1451K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1451 R -> T (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ATCAAAGTTCCTTTGCTTTTT 0.443000 18 58 0 0 0.000175454 0 0 COL4A1 1282 broad.mit.edu 37 13 110847425 110847425 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:110847425C>T ENST00000375820.4 - 22 1447 c.1326G>A c.(1324-1326)caG>caA p.Q442Q COL4A1_ENST00000543140.1_Silent_p.Q442Q NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 442 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGGAGGACCCTGGTCACCTG 0.433000 15 79 0 0 0.000132079 0 0 CDH19 28513 broad.mit.edu 37 18 64218473 64218473 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:64218473T>A ENST00000262150.2 - 5 925 c.633A>T c.(631-633)aaA>aaT p.K211N CDH19_ENST00000540086.1_Missense_Mutation_p.K211N NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 211 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTCTATCCATTTTAGAAGATA 0.313000 29 59 0 0 0.000109025 0 0 RAB5B 5869 broad.mit.edu 37 12 56383810 56383810 + Silent SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:56383810A>G ENST00000360299.5 + 3 464 c.243A>G c.(241-243)cgA>cgG p.R81R RAB5B_ENST00000448789.2_Silent_p.R81R|RAB5B_ENST00000553116.1_Silent_p.R81R NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 81 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GGCAGGAGCGATATCACAGCT 0.502000 27 38 0 0 7.16444e-05 0 0 DZIP3 9666 broad.mit.edu 37 3 108351803 108351803 + Missense_Mutation SNP C C T rs147130794 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:108351803C>T ENST00000361582.3 + 9 930 c.700C>T c.(700-702)Ctt>Ttt p.L234F DZIP3_ENST00000463306.1_Missense_Mutation_p.L234F NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 234 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AATCTAGGATCTTCTTAATAA 0.294000 28 113 0 0 0.000147802 0 0 STAU1 6780 broad.mit.edu 37 20 47734876 47734876 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:47734876C>T ENST00000371828.3 - 10 1445 c.958G>A c.(958-960)Ggg>Agg p.G320R STAU1_ENST00000371792.1_Missense_Mutation_p.G312R|STAU1_ENST00000371802.1_Missense_Mutation_p.G320R|STAU1_ENST00000360426.4_Missense_Mutation_p.G314R|STAU1_ENST00000340954.7_Missense_Mutation_p.G314R|STAU1_ENST00000371856.2_Missense_Mutation_p.G395R|STAU1_ENST00000347458.5_Missense_Mutation_p.G314R NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 395 DRBM 3. microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TTACTAGTCCCATTTTCATCC 0.438000 24 40 0 0 0.000117367 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94650952 94650952 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:94650952C>T ENST00000260526.6 - 17 2048 c.1866G>A c.(1864-1866)acG>acA p.T622T ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 622 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity p.T622T(1) NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CCCTACATTTCGTGGGGGATC 0.398000 7 85 0 0 0.000157383 0 0 CHD9 80205 broad.mit.edu 37 16 53337980 53337980 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:53337980T>C ENST00000566029.1 + 31 6271 c.6062T>C c.(6061-6063)gTa>gCa p.V2021A CHD9_ENST00000447540.1_Missense_Mutation_p.V2021A|CHD9_ENST00000564845.1_Missense_Mutation_p.V2021A|CHD9_ENST00000398510.3_Missense_Mutation_p.V2021A Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2021 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CAATATCAAGTAGCACTTTCT 0.413000 18 44 0 0 9.7654e-05 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307431 39307431 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:39307431G>A ENST00000541347.1 - 2 809 c.570C>T c.(568-570)ctC>ctT p.L190L CX3CR1_ENST00000399220.2_Silent_p.L190L|CX3CR1_ENST00000358309.3_Silent_p.L222L|CX3CR1_ENST00000542107.1_Silent_p.L190L NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 190 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CCACATTGCGGAGCACGGGCC 0.483000 10 133 0 0 0.00010058 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306825 2306825 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:2306825G>A ENST00000290974.2 - 8 1581 c.1242C>T c.(1240-1242)gcC>gcT p.A414A RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.A344A|ZFYVE28_ENST00000511071.1_Silent_p.A384A NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 414 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 ACTCGGGCCTGGCCAGGGCTT 0.697000 8 68 0 0 0.000157383 0 0 FNDC1 84624 broad.mit.edu 37 6 159654273 159654273 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:159654273G>A ENST00000297267.9 + 11 2929 c.2729G>A c.(2728-2730)aGg>aAg p.R910K FNDC1_ENST00000340366.6_Missense_Mutation_p.R847K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 910 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAGGACTTAAGGAGAAGCCCG 0.612000 5 10 0 0 1.23904e-05 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128977597 128977597 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:128977597G>A ENST00000274487.4 + 11 1943 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 600 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AGGTGAGAAAGAATGCAGAAC 0.388000 9 38 0 0 3.86212e-05 0 0 SSX3 10214 broad.mit.edu 37 X 48213512 48213512 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:48213512G>A ENST00000298396.2 - 4 254 c.202C>T c.(202-204)Cca>Tca p.P68S SSX3_ENST00000376893.3_Missense_Mutation_p.P68S NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 68 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 ATGAAAGATGGGAGGATGGCC 0.468000 17 29 0 0 9.7654e-05 0 0 COL14A1 7373 broad.mit.edu 37 8 121357718 121357718 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:121357718C>T ENST00000297848.3 + 45 5263 c.4993C>T c.(4993-4995)Cct>Tct p.P1665S COL14A1_ENST00000309791.4_Missense_Mutation_p.P1665S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P1570S NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1665 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCCAGGCTCACCTGGAGCCCC 0.647000 21 52 0 0 0.00047179 0 0 TCF4 6925 broad.mit.edu 37 18 53254312 53254312 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:53254312C>T ENST00000354452.3 - 2 647 c.36G>A c.(34-36)acG>acA p.T12T TCF4_ENST00000566286.1_Intron|TCF4_ENST00000565018.2_Silent_p.T12T|TCF4_ENST00000564999.1_Silent_p.T12T|TCF4_ENST00000564403.2_Silent_p.T12T|TCF4_ENST00000567880.1_Silent_p.T12T|TCF4_ENST00000356073.4_Silent_p.T12T|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000398339.1_Silent_p.T114T|TCF4_ENST00000566279.1_Silent_p.T12T NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 12 Essential for MYOD1 inhibition (By similarity). positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GCTCTTTGTCCGTCCCTAAGG 0.408000 12 73 0 0 0.000151284 0 0 GRIK1 2897 broad.mit.edu 37 21 31023548 31023548 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:31023548G>A ENST00000399914.1 - 6 1365 c.844C>T c.(844-846)Ctg>Ttg p.L282L GRIK1_ENST00000399913.1_Silent_p.L282L|GRIK1_ENST00000399907.1_Silent_p.L282L|GRIK1_ENST00000309434.7_Silent_p.L282L|GRIK1_ENST00000389125.3_Silent_p.L282L|GRIK1_ENST00000399909.1_Silent_p.L282L|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Silent_p.L282L|GRIK1_ENST00000535441.1_Silent_p.L282L|GRIK1_ENST00000389124.2_Silent_p.L282L P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 282 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) ATGTTAAGCAGCCGAAACCCG 0.478000 17 26 0 0 0.000422831 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324795 86324795 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:86324795G>A ENST00000503906.1 - 1 157 c.158C>T c.(157-159)cCc>cTc p.P53L SYNCRIP_ENST00000355238.6_Silent_p.P517P|SYNCRIP_ENST00000369622.3_Silent_p.P517P CTCTACCGCGGGGAGGAGCAG 0.577000 20 32 0 0 0.000229342 0 0 KLHL13 90293 broad.mit.edu 37 X 117053616 117053616 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:117053616C>T ENST00000371876.1 - 3 2706 c.285G>A c.(283-285)agG>agA p.R95R KLHL13_ENST00000371878.1_Silent_p.R95R|KLHL13_ENST00000541812.1_Silent_p.R130R|KLHL13_ENST00000262820.3_Silent_p.R146R|KLHL13_ENST00000540167.1_Silent_p.R130R|KLHL13_ENST00000545703.1_Silent_p.R104R|KLHL13_ENST00000371882.1_Silent_p.R95R|KLHL13_ENST00000539496.1_Silent_p.R149R|KLHL13_ENST00000469946.1_Silent_p.R95R Q9P2N7 KLH13_HUMAN kelch-like family member 13 146 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAATAATTTTCCTTAGACCGA 0.353000 51 27 0 0 0.000147903 0 0 ITIH2 3698 broad.mit.edu 37 10 7769746 7769746 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:7769746T>A ENST00000358415.4 + 11 1400 c.1234T>A c.(1234-1236)Tcc>Acc p.S412T ITIH2_ENST00000379587.4_Missense_Mutation_p.S401T NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 412 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AGACCCCAACTCCGTCTCGCT 0.438000 18 20 0 0 7.07596e-05 0 0 KCNK5 8645 broad.mit.edu 37 6 39162039 39162039 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:39162039G>A ENST00000359534.3 - 4 878 c.540C>T c.(538-540)ttC>ttT p.F180F NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 180 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CCATGAATACGAAGGGTGGGA 0.572000 11 40 0 0 6.40141e-05 0 0 DSP 1832 broad.mit.edu 37 6 7583465 7583465 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:7583465C>T ENST00000379802.3 + 24 6311 c.5970C>T c.(5968-5970)acC>acT p.T1990T DSP_ENST00000418664.2_Silent_p.T1391T NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1990 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACAAAACAACCTTGGACAAAC 0.498000 12 51 0 0 0.00010058 0 0 MYH2 4620 broad.mit.edu 37 17 10428104 10428104 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:10428104C>T ENST00000245503.5 - 34 5325 c.4941G>A c.(4939-4941)agG>agA p.R1647R CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.R1647R|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1647 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCTGTAGTTCCTCAGGGCCT 0.502000 17 69 0 0 0.000132079 0 0 FSIP2 401024 broad.mit.edu 37 2 186671662 186671662 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:186671662G>A ENST00000343098.5 + 17 17896 c.17896G>A c.(17896-17898)Gaa>Aaa p.E5966K FSIP2_ENST00000424728.1_Missense_Mutation_p.E5877K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AACTACAGATGAAGCACCATC 0.383000 10 3 0 0 3.86212e-05 0 0 MTMR7 9108 broad.mit.edu 37 8 17157596 17157596 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:17157596C>T ENST00000180173.5 - 14 1792 c.1758G>A c.(1756-1758)atG>atA p.M586I MTMR7_ENST00000398099.3_Missense_Mutation_p.M177I|VPS37A_ENST00000521162.1_3'UTR NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 586 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) GAAATGATTTCATATTCCCAC 0.468000 43 69 0 0 0.000147903 0 0 PAPPA 5069 broad.mit.edu 37 9 119094741 119094741 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:119094741G>A ENST00000328252.3 + 12 3760 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N PAPPA_ENST00000534838.1_Missense_Mutation_p.D169N NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1131 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCAGAGCCACGATCTAGGTAA 0.493000 7 42 0 0 0.000442599 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136709 40136709 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:40136709G>A ENST00000278198.2 - 2 3097 c.1134C>T c.(1132-1134)tcC>tcT p.S378S LRRC4C_ENST00000527150.1_Silent_p.S378S|LRRC4C_ENST00000530763.1_Silent_p.S378S|LRRC4C_ENST00000528697.1_Silent_p.S378S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 378 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TCAGGGATGTGGAGGCCCGAC 0.502000 15 63 0 0 0.000308642 0 0 RBP3 5949 broad.mit.edu 37 10 48389376 48389376 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:48389376G>A ENST00000224600.4 - 1 1615 c.1502C>T c.(1501-1503)gCc>gTc p.A501V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 501 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CACGGGGCCGGCCTCAGGGCC 0.642000 11 15 0 0 0.000151284 0 0 HERC2P2 400322 broad.mit.edu 37 15 23311893 23311893 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:23311893G>A ENST00000560464.1 - 0 3266 AGGGCACAGGGAAGGGAGACG 0.652000 5 4 0 0 3.59834e-05 0 0 CDH16 1014 broad.mit.edu 37 16 66948256 66948256 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:66948256C>T ENST00000299752.4 - 7 836 c.643G>A c.(643-645)Gac>Aac p.D215N CDH16_ENST00000570262.1_Missense_Mutation_p.D135N|CDH16_ENST00000568632.1_Intron|CDH16_ENST00000565796.1_Missense_Mutation_p.D215N|CDH16_ENST00000394055.3_Missense_Mutation_p.D215N NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 215 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCACCCATGTCCTTGACCTGT 0.612000 5 36 0 0 3.59834e-05 0 0 UNC5D 137970 broad.mit.edu 37 8 35606138 35606138 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:35606138C>T ENST00000287272.2 + 11 1673 c.1653C>T c.(1651-1653)atC>atT p.I551I UNC5D_ENST00000416672.1_Silent_p.I625I|UNC5D_ENST00000453357.2_Silent_p.I615I|UNC5D_ENST00000420357.1_Silent_p.I553I|UNC5D_ENST00000404895.2_Silent_p.I620I|UNC5D_ENST00000449677.1_Silent_p.I196I Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 620 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CATTGACCATCCCGCACTGTG 0.498000 14 111 0 0 5.01169e-05 0 0 FOXI1 2299 broad.mit.edu 37 5 169535068 169535068 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:169535068G>A ENST00000306268.6 + 2 651 c.590G>A c.(589-591)tGg>tAg p.W197* FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 197 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGAATTACTGGACCCTGGAC 0.438000 Pendred syndrome 30 35 0 0 0.000109025 0 0 ERCC2 2068 broad.mit.edu 37 19 45855565 45855565 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:45855565G>A ENST00000391945.4 - 22 2169 c.2092C>T c.(2092-2094)Cag>Tag p.Q698* ERCC2_ENST00000391944.3_Nonsense_Mutation_p.Q620* NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 698 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AGGTGCTCCTGGATCCAGCGG 0.657000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 46 0 0 0.000442599 0 0 NUP160 23279 broad.mit.edu 37 11 47825067 47825067 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:47825067G>A ENST00000378460.2 - 22 2744 c.2698C>T c.(2698-2700)Ccc>Tcc p.P900S NUP160_ENST00000528071.1_Missense_Mutation_p.P786S|NUP160_ENST00000530326.1_Missense_Mutation_p.P786S NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 900 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TGACACCAGGGATGTAGCAGT 0.378000 43 48 0 0 0.000147903 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54930890 54930890 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:54930890C>T ENST00000474759.1 + 26 2409 c.2361C>T c.(2359-2361)ttC>ttT p.F787F CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.F693F|CACNA2D3_ENST00000288197.5_Silent_p.F787F|CACNA2D3_ENST00000415676.2_Silent_p.F787F NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 787 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CGATCCCATTCAGCACTGGTG 0.567000 7 68 0 0 0.000157383 0 0 TRPC7 57113 broad.mit.edu 37 5 135587547 135587547 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:135587547C>T ENST00000513104.1 - 6 1651 c.1369G>A c.(1369-1371)Gaa>Aaa p.E457K TRPC7_ENST00000426057.2_Missense_Mutation_p.E341K|TRPC7_ENST00000355180.3_Missense_Mutation_p.E396K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 457 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCCCAGATTTCCTTGCATTCG 0.542000 8 33 0 0 0.000274275 0 0 NLRP5 126206 broad.mit.edu 37 19 56565166 56565166 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:56565166G>A ENST00000390649.3 + 13 3291 c.3291G>A c.(3289-3291)gcG>gcA p.A1097A NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1097 A -> T (in dbSNP:rs3103057). mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTGTTCTGGCGAGACTCGGGT 0.607000 13 53 0 0 7.07596e-05 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68044880 68044880 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:68044880C>T ENST00000329153.5 + 19 2847 c.2715C>T c.(2713-2715)acC>acT p.T905T NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 905 MyTH4. cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) TGAAGCAGACCAGCTGCCGCC 0.612000 6 35 0 0 8.12818e-05 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6873748 6873748 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:6873748G>A ENST00000419673.2 + 8 926 c.709G>A c.(709-711)Gtg>Atg p.V237M ARHGAP28_ENST00000532996.1_Missense_Mutation_p.V219M|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.V344M|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.V237M|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.V396M|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.V237M|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.V232M|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.V396M NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 219 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) AGACCCTGGAGTGAAAGTTCC 0.428000 6 15 0 0 3.59834e-05 0 0 TEX264 51368 broad.mit.edu 37 3 51737762 51737762 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:51737762G>A ENST00000415259.1 + 5 1753 c.672G>A c.(670-672)acG>acA p.T224T TEX264_ENST00000457573.1_Silent_p.T224T|TEX264_ENST00000395057.1_Silent_p.T224T|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000341333.5_Silent_p.T224T|TEX264_ENST00000416589.1_Silent_p.T224T Q9Y6I9 TX264_HUMAN testis expressed 264 224 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TGAGTGACACGAGTTCTGTAA 0.607000 98 78 0 0 0.000147903 0 0 DEFB119 245932 broad.mit.edu 37 20 29965226 29965226 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:29965226A>G ENST00000339144.3 - 3 224 c.118T>C c.(118-120)Tcg>Ccg p.S40P DEFB119_ENST00000376321.3_Silent_p.L26L|DEFB119_ENST00000492344.1_5'UTR Q8N690 DB119_HUMAN defensin, beta 119 0 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCATGCATCGAAGGATGTGGC 0.428000 14 76 0 0 0.000422831 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28294168 28294168 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:28294168G>A ENST00000414429.1 - 8 1899 c.996C>T c.(994-996)ttC>ttT p.F332F ZSCAN31_ENST00000439158.1_Silent_p.F332F|ZSCAN31_ENST00000344279.6_Silent_p.F332F|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000396838.2_Silent_p.F332F|ZSCAN31_ENST00000446474.1_Silent_p.F173F zinc finger and SCAN domain containing 31 AGCTGAGGAGGAAAGCCTTCC 0.507000 30 102 0 0 0.000409698 0 0 MDS2 259283 broad.mit.edu 37 1 23965716 23965716 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:23965716C>T ENST00000374555.3 + 5 708 c.121C>T c.(121-123)Ctt>Ttt p.L41F MDS2_ENST00000477916.1_Intron myelodysplastic syndrome 2 translocation associated breast(1)|ovary(2) 3 TCTCTCCAAGCTTCCCACCAG 0.453000 T ETV6 MDS 5 28 0 0 1.23904e-05 0 0 ERCC4 2072 broad.mit.edu 37 16 14041989 14041989 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:14041989C>T ENST00000311895.7 + 11 2545 c.2536C>T c.(2536-2538)Cct>Tct p.P846S NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 846 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 GAAGTATAATCCTGGTCCCCA 0.498000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 6 39 0 0 3.59834e-05 0 0 HYDIN 54768 broad.mit.edu 37 16 71025223 71025223 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:71025223C>T ENST00000393567.2 - 25 4012 c.3862G>A c.(3862-3864)Gat>Aat p.D1288N NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1288 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CACCGTACATCTGAGATCACA 0.473000 5 24 0 0 3.59834e-05 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077497 19077497 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:19077497G>A ENST00000329773.2 - 2 540 c.453C>T c.(451-453)gtC>gtT p.V151V NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 151 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CCCAGAGCAGGACACACACGA 0.582000 18 39 0 0 7.07596e-05 0 0 USP7 7874 broad.mit.edu 37 16 8995010 8995010 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:8995010G>A ENST00000344836.4 - 19 2327 c.2129C>T c.(2128-2130)tCc>tTc p.S710F USP7_ENST00000535863.1_Missense_Mutation_p.S611F|USP7_ENST00000381886.4_Missense_Mutation_p.S694F NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 710 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TATTTTACAGGATATTGGTGT 0.358000 12 78 0 0 0.000219431 0 0 TRIM60 166655 broad.mit.edu 37 4 165961536 165961536 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:165961536G>A ENST00000512596.1 + 3 528 c.312G>A c.(310-312)ctG>ctA p.L104L TRIM60_ENST00000341062.5_Silent_p.L104L|TRIM60_ENST00000508504.1_Silent_p.L104L NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 104 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) ACCAGTTTCTGACCCTCTTCT 0.408000 5 29 0 0 1.23904e-05 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022237 51022237 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:51022237G>A ENST00000599957.1 - 3 930 c.733C>T c.(733-735)Cgc>Tgc p.R245C LRRC4B_ENST00000389201.3_Missense_Mutation_p.R245C Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 245 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GAGCCCGGGCGGATCAGGTCC 0.657000 5 8 0 0 1.23904e-05 0 0 ITPR1 3708 broad.mit.edu 37 3 4829669 4829669 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:4829669T>G ENST00000354582.6 + 51 6959 c.6609T>G c.(6607-6609)ttT>ttG p.F2203L ITPR1_ENST00000456211.2_Missense_Mutation_p.F2155L|ITPR1_ENST00000443694.2_Missense_Mutation_p.F2203L|ITPR1_ENST00000423119.2_Missense_Mutation_p.F2170L|ITPR1_ENST00000357086.4_Missense_Mutation_p.F2170L|ITPR1_ENST00000302640.8_Missense_Mutation_p.F2203L|ITPR1_ENST00000544951.1_Intron Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 2218 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AGATAGTCTTTCCCGTGCCCA 0.358000 6 39 0 0 0.000157383 0 0 PCIF1 63935 broad.mit.edu 37 20 44567907 44567907 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:44567907C>T ENST00000372409.3 + 4 542 c.178C>T c.(178-180)Ccc>Tcc p.P60S NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 60 WW. nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 GGAGAATCGTCCCTACTACTT 0.627000 25 29 0 0 0.000147802 0 0 ASB10 136371 broad.mit.edu 37 7 150878530 150878530 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:150878530G>A ENST00000422024.1 - 3 860 c.735C>T c.(733-735)ctC>ctT p.L245L ASB10_ENST00000420175.2_Silent_p.L200L|ASB10_ENST00000275838.1_Silent_p.L200L|ASB10_ENST00000434669.1_Silent_p.L245L|ASB10_ENST00000377867.3_Silent_p.L185L NM_001142459.1 NP_001135931.2 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box containing 10 200 intracellular signal transduction NS(1)|endometrium(2)|lung(7)|skin(2) 12 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAACCTGAGGAGCAGCTCCG 0.632000 4 19 0 0 3.59834e-05 0 0 PHF8 23133 broad.mit.edu 37 X 54011586 54011586 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:54011586G>A ENST00000338154.6 - 18 2708 c.2204C>T c.(2203-2205)tCg>tTg p.S735L PHF8_ENST00000357988.5_Missense_Mutation_p.S771L|PHF8_ENST00000338946.6_Missense_Mutation_p.S634L|PHF8_ENST00000322659.8_Missense_Mutation_p.S718L NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 771 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 CGGTGAGGACGATGAGGACTG 0.612000 4 2 0 0 1.23904e-05 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281176 49281176 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:49281176G>A ENST00000282018.3 + 1 226 c.223G>A c.(223-225)Gtt>Att p.V75I NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 75 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) ATCTGTGAACGTTTTCATGCT 0.408000 10 29 0 0 0.00010058 0 0 DOCK2 1794 broad.mit.edu 37 5 169186739 169186739 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:169186739C>T ENST00000256935.8 + 24 2487 c.2407C>T c.(2407-2409)Ctg>Ttg p.L803L DOCK2_ENST00000520908.1_Silent_p.L295L|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 803 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCATCTGTCCTGCATGATGT 0.453000 25 72 0 0 0.000227799 0 0 SPINK13 153218 broad.mit.edu 37 5 147649650 147649650 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:147649650C>T ENST00000512953.1 + 3 546 c.15C>T c.(13-15)ccC>ccT p.P5P RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Silent_p.P5P|SPINK13_ENST00000511106.1_5'UTR Q1W4C9 ISK13_HUMAN serine peptidase inhibitor, Kazal type 13 (putative) 5 extracellular region serine-type endopeptidase inhibitor activity breast(2)|lung(3) 5 CTGCCTTTCCCCACAAGATTA 0.398000 61 84 0 0 0.000147903 0 0 HAUS8 93323 broad.mit.edu 37 19 17160816 17160816 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:17160816G>A ENST00000593360.1 - 10 2935 c.917C>T c.(916-918)tCt>tTt p.S306F HAUS8_ENST00000448593.2_Missense_Mutation_p.S366F|HAUS8_ENST00000253669.5_Missense_Mutation_p.S367F Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 367 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 GTCGTCCTCAGACAGGGGCGT 0.617000 10 27 0 0 6.40141e-05 0 0 MMRN2 79812 broad.mit.edu 37 10 88702347 88702347 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:88702347C>T ENST00000372027.4 - 6 2267 c.2194G>A c.(2194-2196)Ggc>Agc p.G732S NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 732 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TTGTGGAGGCCGTGAAGGGAG 0.662000 10 18 0 0 6.40141e-05 0 0 IGHG4 3503 broad.mit.edu 37 14 106091232 106091232 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:106091232C>T ENST00000390543.2 - 0 661 GTGGGTCCCACCTTTGGCTTT 0.617000 19 117 0 0 0.000175454 0 0 IL12RB1 3594 broad.mit.edu 37 19 18186603 18186603 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:18186603C>T ENST00000600835.1 - 8 959 c.656G>A c.(655-657)gGa>gAa p.G219E IL12RB1_ENST00000430026.2_Missense_Mutation_p.G219E|IL12RB1_ENST00000593993.1_Missense_Mutation_p.G219E|IL12RB1_ENST00000322153.6_Missense_Mutation_p.G219E P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 219 Fibronectin type-III 2. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CCAGGAACTTCCTTGGCTCCC 0.587000 12 55 0 0 0.00010058 0 0 USP29 57663 broad.mit.edu 37 19 57641395 57641395 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:57641395A>C ENST00000254181.4 + 4 1806 c.1352A>C c.(1351-1353)aAt>aCt p.N451T USP29_ENST00000598197.1_Missense_Mutation_p.N451T NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 451 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTAGAACCTAATAATTATCTC 0.358000 35 159 0 0 0.000228196 0 0 ATP2B1 490 broad.mit.edu 37 12 90024357 90024357 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:90024357C>G ENST00000428670.3 - 6 1309 c.853G>C c.(853-855)Gga>Cga p.G285R ATP2B1_ENST00000359142.3_Missense_Mutation_p.G285R|ATP2B1_ENST00000261173.2_Missense_Mutation_p.G285R|ATP2B1_ENST00000348959.3_Missense_Mutation_p.G285R|ATP2B1_ENST00000393164.2_Missense_Mutation_p.G28R P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 285 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AAGATAATTCCAGTTTGAGAA 0.323000 10 59 0 0 6.40141e-05 0 0 SQLE 6713 broad.mit.edu 37 8 126021462 126021462 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:126021462C>T ENST00000265896.5 + 6 1883 c.985C>T c.(985-987)Ccg>Tcg p.P329S SQLE_ENST00000523430.1_Missense_Mutation_p.P234S NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 329 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TTTAGCTAACCCGAGTCCAGT 0.323000 53 218 0 0 0.000147903 0 0 ZPLD1 131368 broad.mit.edu 37 3 102176628 102176628 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:102176628C>T ENST00000306176.1 + 5 661 c.561C>T c.(559-561)tcC>tcT p.S187S ZPLD1_ENST00000466937.1_Silent_p.S171S|ZPLD1_ENST00000491959.1_Silent_p.S171S NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 171 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GTTTTAGGTCCTCAGCGGCTA 0.363000 46 147 0 0 0.000147903 0 0 CABIN1 23523 broad.mit.edu 37 22 24483564 24483564 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:24483564C>T ENST00000398319.2 + 23 3808 c.3423C>T c.(3421-3423)tcC>tcT p.S1141S CABIN1_ENST00000405822.2_Silent_p.S1091S|CABIN1_ENST00000263119.5_Silent_p.S1141S NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1141 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCAACTTGTCCCTATGGATTG 0.562000 21 66 0 0 0.00047179 0 0 CSMD1 64478 broad.mit.edu 37 8 2815330 2815330 + Splice_Site SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:2815330C>T ENST00000520002.1 - 64 10261 c.e64-1 CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCTTCCAACCTAGAGAGGAA 0.458000 3 5 0 0 6.4e-05 0 0 LPAL2 80350 broad.mit.edu 37 6 160932074 160932074 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:160932074C>T ENST00000335388.5 - 0 82 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) GAAAGTGTGTCCCAATCCCAG 0.418000 66 74 0 0 0.000147903 0 0 SNHG14 104472715 broad.mit.edu 37 15 25230395 25230395 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:25230395C>T ENST00000551631.2 + 0 887 SNHG14_ENST00000551361.1_RNA NR_001293.1 ATGGTTTTTCCTATCAGTACA 0.368000 12 15 0 0 6.40141e-05 0 0 SERPINA6 866 broad.mit.edu 37 14 94780794 94780794 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:94780794G>A ENST00000341584.3 - 2 338 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 64 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAGGGGAGATGAAAATGTTCT 0.552000 8 27 0 0 0.000157383 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911905 158911905 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:158911905C>T ENST00000368140.1 + 5 963 c.718C>T c.(718-720)Cat>Tat p.H240Y PYHIN1_ENST00000392252.3_Missense_Mutation_p.H231Y|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.H231Y|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H240Y NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 240 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AAGAATGTTTCATGCTACAGT 0.318000 17 40 0 0 0.000229342 0 0 GPR50 9248 broad.mit.edu 37 X 150348464 150348464 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:150348464G>A ENST00000218316.3 + 2 478 c.409G>A c.(409-411)Gaa>Aaa p.E137K NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 137 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCAGTACGAACGGATCTT 0.542000 28 14 0 0 0.000147802 0 0 BRD8 10902 broad.mit.edu 37 5 137476450 137476450 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:137476450G>A ENST00000254900.5 - 26 3930 c.3559C>T c.(3559-3561)Cat>Tat p.H1187Y NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1187 Bromo 2. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TATACATGATGATCAGAGTCA 0.463000 97 231 0 0 0.000147903 0 0 ERCC6 2074 broad.mit.edu 37 10 50681610 50681610 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:50681610G>A ENST00000355832.5 - 14 2700 c.2622C>T c.(2620-2622)ttC>ttT p.F874F ERCC6_ENST00000542458.1_Silent_p.F244F NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 874 Helicase C-terminal. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGGCTCTAAGGAATACTTCAA 0.413000 Direct reversal of damage;Nucleotide excision repair (NER) 41 65 0 0 0.000147903 0 0 OR13C2 392376 broad.mit.edu 37 9 107367329 107367329 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:107367329C>T ENST00000542196.1 - 1 622 c.580G>A c.(580-582)Gac>Aac p.D194N NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 AACTCATTGTCTGAGATGTCA 0.388000 12 57 0 0 0.000219431 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559046 1559046 + Missense_Mutation SNP C C T rs145977289 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:1559046C>T ENST00000381605.4 - 2 435 c.371G>A c.(370-372)cGg>cAg p.R124Q SIRPB1_ENST00000262929.5_Missense_Mutation_p.R123Q|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R124Q|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R124Q NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 124 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GCTCCCTTTCCGGAACTTCAC 0.542000 37 69 0 0 0.000270559 0 0 SP140L 93349 broad.mit.edu 37 2 231236359 231236359 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:231236359G>A ENST00000243810.6 + 7 630 c.630G>A c.(628-630)agG>agA p.R210R SP140L_ENST00000458341.1_Silent_p.R123R|SP140L_ENST00000444636.1_Silent_p.R210R|SP140L_ENST00000415673.2_Silent_p.R210R|SP140L_ENST00000396563.4_Silent_p.R210R Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 210 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AACCCAAGAGGAAAAGAAGTA 0.279000 13 39 0 0 0.000219431 0 0 C5 727 broad.mit.edu 37 9 123742403 123742403 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:123742403G>A ENST00000223642.1 - 28 3645 c.3616C>T c.(3616-3618)Cgt>Tgt p.R1206C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1206 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) ACAATTGAACGAAACTGTGGG 0.408000 16 74 0 0 0.000229342 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291305 141291305 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:141291305C>T ENST00000247452.3 - 3 816 c.469G>A c.(469-471)Gaa>Aaa p.E157K NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 157 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCTGCTTCGTATTTGAGG 0.478000 HNSCC(46;0.14) 42 76 0 0 0.000437636 0 0 DOCK10 55619 broad.mit.edu 37 2 225666651 225666651 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:225666651A>C ENST00000409592.3 - 40 4470 c.4357T>G c.(4357-4359)Tta>Gta p.L1453V DOCK10_ENST00000258390.7_Missense_Mutation_p.L1459V Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1459 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GTATTGTCTAACATCTGTAAG 0.383000 25 33 0 0 0.000117367 0 0 SNF8 11267 broad.mit.edu 37 17 47021290 47021290 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:47021290G>A ENST00000502492.1 - 2 484 c.102C>T c.(100-102)gcC>gcT p.A34A SNF8_ENST00000290330.3_Silent_p.A34A Q96H20 SNF8_HUMAN SNF8, ESCRT-II complex subunit 34 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding breast(1)|endometrium(1)|lung(1) 3 GACTTACCTGGGCTAGCTGGT 0.557000 19 57 0 0 0.00047179 0 0 OR11H4 390442 broad.mit.edu 37 14 20711839 20711839 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:20711839C>T ENST00000315409.2 + 1 942 c.889C>T c.(889-891)Cct>Tct p.P297S NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P297A(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) TCTTTTTAATCCTCTGATCTA 0.398000 19 72 0 0 0.000132079 0 0 PRDM12 59335 broad.mit.edu 37 9 133543670 133543670 + Silent SNP C C T rs145300834 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:133543670C>T ENST00000253008.2 + 3 600 c.540C>T c.(538-540)atC>atT p.I180I NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 180 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I180I(1) kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) TGGTCCAGATCGGCACCAGCA 0.587000 7 50 0 0 0.000274275 0 0 IL7R 3575 broad.mit.edu 37 5 35873713 35873713 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:35873713T>G ENST00000303115.3 + 5 798 c.669T>G c.(667-669)agT>agG p.S223R IL7R_ENST00000506850.1_Missense_Mutation_p.S223R|IL7R_ENST00000343305.4_Missense_Mutation_p.S223R NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 223 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GGAGTCCAAGTTATTACTTCA 0.433000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 10 58 0 0 0.00010058 0 0 WDR72 256764 broad.mit.edu 37 15 53908429 53908429 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:53908429G>A ENST00000396328.1 - 15 2213 c.1974C>T c.(1972-1974)gcC>gcT p.A658A WDR72_ENST00000559418.1_Silent_p.A668A|WDR72_ENST00000557913.1_Silent_p.A655A|WDR72_ENST00000360509.5_Silent_p.A658A NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 658 p.A658A(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GGCAAAATTTGGCATCAGTAA 0.318000 8 13 0 0 0.000442599 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870060 151870060 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:151870060C>T ENST00000329342.5 + 3 975 c.750C>T c.(748-750)ttC>ttT p.F250F NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 250 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CCCAATATTTCGTGCAGGAAA 0.537000 24 39 0 0 0.000295444 0 0 ALPPL2 251 broad.mit.edu 37 2 233273284 233273284 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:233273284G>A ENST00000295453.3 + 7 908 c.e7+1 NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CATCTCATGGGTAATGACCCC 0.657000 8 28 0 0 0.00010058 0 0 TMEM119 338773 broad.mit.edu 37 12 108985573 108985573 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:108985573C>T ENST00000392806.3 - 2 755 c.587G>A c.(586-588)gGa>gAa p.G196E NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 196 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CATCCTGGCTCCGTCCCCACC 0.677000 16 13 0 0 5.01169e-05 0 0 MRPS2 51116 broad.mit.edu 37 9 138393782 138393782 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:138393782C>T ENST00000371785.1 + 4 471 c.262C>T c.(262-264)Cga>Tga p.R88* MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Nonsense_Mutation_p.R88* Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 88 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) CTTCGATGCCCGAGTCCATCT 0.552000 26 38 0 0 0.000227799 0 0 SVEP1 79987 broad.mit.edu 37 9 113205880 113205880 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:113205880G>A ENST00000401783.2 - 27 4920 c.4584C>T c.(4582-4584)atC>atT p.I1528I SVEP1_ENST00000302728.8_Silent_p.I1528I|SVEP1_ENST00000374469.1_Silent_p.I1505I|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1528 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATTTCCCATCGATATAGACTT 0.438000 13 21 0 0 0.000219431 0 0 SPTA1 6708 broad.mit.edu 37 1 158590199 158590199 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:158590199C>T ENST00000368148.3 - 44 6358 c.6178G>A c.(6178-6180)Gaa>Aaa p.E2060K SPTA1_ENST00000368147.3_Missense_Mutation_p.E2057K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2060 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCCATCTTTTCACACCAGTTG 0.468000 7 26 0 0 0.000274275 0 0 CASR 846 broad.mit.edu 37 3 121973162 121973162 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:121973162T>C ENST00000498619.1 + 2 564 c.126T>C c.(124-126)ttT>ttC p.F42F CASR_ENST00000296154.5_Silent_p.F42F|CASR_ENST00000490131.1_Silent_p.F42F NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 42 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTATTCATTTTGGAGTAGCAG 0.507000 49 39 0 0 0.000147903 0 0 RBM11 54033 broad.mit.edu 37 21 15599508 15599508 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:15599508G>A ENST00000400577.3 + 5 749 c.740G>A c.(739-741)cGa>cAa p.R247Q RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 247 nucleotide binding|RNA binding p.R247Q(1) endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) ATGAATAAACGAAAGAGACAA 0.408000 52 97 0 0 0.000147903 0 0 AMDHD1 144193 broad.mit.edu 37 12 96354372 96354372 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:96354372G>A ENST00000266736.2 + 5 890 c.784G>A c.(784-786)Gat>Aat p.D262N NM_152435.2 NP_689648.2 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 262 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1) 22 CTTCCATGGGGATGAACTCCA 0.408000 44 89 0 0 0.000147903 0 0 XAB2 56949 broad.mit.edu 37 19 7689196 7689196 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:7689196C>T ENST00000358368.4 - 7 995 c.958G>A c.(958-960)Gag>Aag p.E320K XAB2_ENST00000534844.1_Missense_Mutation_p.E317K NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 320 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CCCTCCTCCTCGCGCCCCAGC 0.647000 Direct reversal of damage;Nucleotide excision repair (NER) 12 51 0 0 0.000151284 0 0 TRPS1 7227 broad.mit.edu 37 8 116599467 116599467 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:116599467G>T ENST00000395715.3 - 5 3038 c.2461C>A c.(2461-2463)Caa>Aaa p.Q821K TRPS1_ENST00000220888.5_Missense_Mutation_p.Q808K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 808 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) AGGCTTGCTTGGGTGTATGAC 0.587000 Langer-Giedion syndrome 8 177 0.000442599 0.0091171 0.000442599 1 0 RYR2 6262 broad.mit.edu 37 1 237778068 237778068 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:237778068G>A ENST00000366574.2 + 37 5957 c.5640G>A c.(5638-5640)gaG>gaA p.E1880E RYR2_ENST00000542537.1_Silent_p.E1864E|RYR2_ENST00000360064.6_Silent_p.E1878E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1880 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGCTGGTGAGGAAGAAGCCA 0.537000 6 39 0 0 0.000157383 0 0 TBX18 9096 broad.mit.edu 37 6 85446592 85446592 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:85446592C>T ENST00000369663.5 - 8 1972 c.1635G>A c.(1633-1635)gaG>gaA p.E545E TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 545 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AAACAATTTTCTCAGGACTGG 0.498000 17 48 0 0 0.000229342 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691116 18691116 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:18691116C>T ENST00000433979.1 + 24 3343 c.3227C>T c.(3226-3228)tCa>tTa p.S1076L PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1117L|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1076L NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1076 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) ATTTTTACTTCAGAGATGGAA 0.378000 6 8 0 0 3.59834e-05 0 0 MYH15 22989 broad.mit.edu 37 3 108183613 108183613 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:108183613C>T ENST00000273353.3 - 16 1719 c.1663G>A c.(1663-1665)Gct>Act p.A555T NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 555 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGGTCTGTAGCCTTAGGAAAC 0.423000 5 48 0 0 3.59834e-05 0 0 OR14K1 343170 broad.mit.edu 37 1 247902441 247902441 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:247902441C>T ENST00000283225.2 + 1 525 c.525C>T c.(523-525)ttC>ttT p.F175F RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TACATCAGTTCTTCTGCGATG 0.463000 30 76 0 0 0.000491102 0 0 ZNF114 163071 broad.mit.edu 37 19 48789857 48789857 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:48789857C>T ENST00000595607.1 + 6 1470 c.976C>T c.(976-978)Cac>Tac p.H326Y ZNF114_ENST00000597695.1_Missense_Mutation_p.H292Y|ZNF114_ENST00000315849.1_Missense_Mutation_p.H326Y|ZNF114_ENST00000600687.1_Missense_Mutation_p.H326Y Q8NC26 ZN114_HUMAN zinc finger protein 114 326 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) TATGAAAATTCACACTGGAGA 0.383000 25 116 0 0 7.16444e-05 0 0 SGK223 157285 broad.mit.edu 37 8 8185578 8185578 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:8185578C>T ENST00000520004.1 - 5 2978 c.2714G>A c.(2713-2715)aGc>aAc p.S905N SGK223_ENST00000330777.4_Missense_Mutation_p.S905N Q86YV5 SG223_HUMAN 905 ATP binding|non-membrane spanning protein tyrosine kinase activity GAGGCCAGGGCTCCCGCAGCC 0.657000 13 50 0 0 0.00010058 0 0 HOXB1 3211 broad.mit.edu 37 17 46607066 46607066 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:46607066C>T ENST00000239174.6 - 2 841 c.749G>A c.(748-750)tGg>tAg p.W250* HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 250 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GTTCTGGAACCAAATCTTGAC 0.592000 92 58 0 0 0.000147903 0 0 FAM71B 153745 broad.mit.edu 37 5 156589674 156589674 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:156589674G>A ENST00000302938.4 - 2 1697 c.1602C>T c.(1600-1602)atC>atT p.I534I NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 534 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAAAAGAGCTGATCTTACTGG 0.478000 131 536 0 0 0.000147903 0 0 MTG2 26164 broad.mit.edu 37 20 60775817 60775817 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:60775817G>T ENST00000370823.3 + 7 923 c.905G>T c.(904-906)cGc>cTc p.R302L MTG2_ENST00000536470.1_Missense_Mutation_p.R74L|MTG2_ENST00000436421.2_Missense_Mutation_p.R144L NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 CACATCGAGCGCTGCCGCTTT 0.567000 7 281 1.12685e-05 0.00023402 0.000274275 1 0 TMEM200A 114801 broad.mit.edu 37 6 130761889 130761889 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:130761889G>A ENST00000392429.1 + 2 2700 c.322G>A c.(322-324)Gaa>Aaa p.E108K TMEM200A_ENST00000545622.1_Missense_Mutation_p.E108K|TMEM200A_ENST00000296978.3_Missense_Mutation_p.E108K NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 108 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CATTCGGAATGAAGGCGGTGT 0.418000 10 48 0 0 3.86212e-05 0 0 ANKLE2 23141 broad.mit.edu 37 12 133324813 133324813 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:133324813C>T ENST00000539605.1 - 3 7450 c.766G>A c.(766-768)Gag>Aag p.E256K ANKLE2_ENST00000337516.5_Missense_Mutation_p.E318K|ANKLE2_ENST00000357997.5_Missense_Mutation_p.E318K Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 318 cytoplasm|integral to membrane|nuclear envelope NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TCTCCCTTCTCCACAGCTTTC 0.532000 24 14 0 0 0.00047179 0 0 SEC14L4 284904 broad.mit.edu 37 22 30899737 30899737 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:30899737G>A ENST00000255858.7 - 2 140 c.57C>T c.(55-57)ttC>ttT p.F19F SEC14L4_ENST00000381982.3_Silent_p.F19F|SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000540456.1_5'UTR NM_001161368.1|NM_174977.3 NP_001154840.1|NP_777637.1 Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 19 integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GGTTCTCCCGGAACTGAGCGG 0.632000 11 28 0 0 0.00010058 0 0 TULP3 7289 broad.mit.edu 37 12 3030044 3030044 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:3030044C>T ENST00000448120.2 + 3 260 c.209C>T c.(208-210)cCc>cTc p.P70L TULP3_ENST00000397132.2_Missense_Mutation_p.P70L NM_003324.4 NP_003315.2 O75386 TULP3_HUMAN tubby like protein 3 70 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAGCAGACTCCCTTGGTGAAC 0.493000 39 23 0 0 0.000437636 0 0 WDR93 56964 broad.mit.edu 37 15 90276391 90276391 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:90276391C>T ENST00000268130.7 + 13 1586 c.1485C>T c.(1483-1485)tcC>tcT p.S495S WDR93_ENST00000560294.1_Silent_p.S467S|WDR93_ENST00000444934.2_Silent_p.S212S NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 495 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CAGACGCCTCCCTCCATCTGG 0.502000 19 57 0 0 9.7654e-05 0 0 FKBP8 23770 broad.mit.edu 37 19 18644121 18644121 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:18644121G>A ENST00000597960.2 - 7 1102 c.982C>T c.(982-984)Ccc>Tcc p.P328S FKBP8_ENST00000222308.3_Missense_Mutation_p.P328S|FKBP8_ENST00000544835.2_Missense_Mutation_p.P168S|FKBP8_ENST00000596558.1_Missense_Mutation_p.P327S|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.P356S Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 327 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 CTCAGGATGGGGATGGCCTCA 0.622000 4 6 0 0 3.59834e-05 0 0 NLRP12 91662 broad.mit.edu 37 19 54312893 54312893 + Missense_Mutation SNP C C T rs139937024 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:54312893C>T ENST00000324134.6 - 3 2188 c.2020G>A c.(2020-2022)Ggg>Agg p.G674R NLRP12_ENST00000354278.3_Missense_Mutation_p.G674R|NLRP12_ENST00000351894.4_Missense_Mutation_p.G674R|NLRP12_ENST00000391775.3_Missense_Mutation_p.G674R|NLRP12_ENST00000345770.5_Missense_Mutation_p.G674R|NLRP12_ENST00000535162.1_Missense_Mutation_p.G674R|NLRP12_ENST00000391773.1_Missense_Mutation_p.G674R|NLRP12_ENST00000391772.1_Missense_Mutation_p.G674R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 674 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.G674W(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CGGTCTTCCCCGTCCGCGCTG 0.617000 6 24 0 0 8.12818e-05 0 0 NPY2R 4887 broad.mit.edu 37 4 156135711 156135711 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:156135711G>A ENST00000329476.3 + 2 1109 c.620G>A c.(619-621)tGg>tAg p.W207* NPY2R_ENST00000506608.1_Nonsense_Mutation_p.W207* NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 207 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ACTGAAAAGTGGCCTGGCGAG 0.488000 34 65 0 0 0.000125731 0 0 BCL9 607 broad.mit.edu 37 1 147091993 147091993 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:147091993C>T ENST00000234739.3 + 8 2772 c.2032C>T c.(2032-2034)Cct>Tct p.P678S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 678 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCCCATTTTCCCTCGAATACC 0.562000 T """IGH@, IGL@""" B-ALL 8 25 0 0 0.000442599 0 0 CALB1 793 broad.mit.edu 37 8 91072436 91072436 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:91072436C>T ENST00000265431.3 - 11 932 c.751G>A c.(751-753)Gat>Aat p.D251N CALB1_ENST00000518457.1_Missense_Mutation_p.D194N NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 251 nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) AGAGCAAGATCCGTTCGGTAC 0.398000 15 106 0 0 7.07596e-05 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452801 106452801 + RNA SNP C C T rs11553007 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:106452801C>T ENST00000390594.2 - 0 284 TGTGCCACCACTGTTAGGGTT 0.552000 9 59 0 0 3.86212e-05 0 0 CSMD1 64478 broad.mit.edu 37 8 2944738 2944738 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:2944738C>T ENST00000520002.1 - 50 7913 c.7358G>A c.(7357-7359)gGa>gAa p.G2453E CSMD1_ENST00000537824.1_Missense_Mutation_p.G2452E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2453E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2452E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2453E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2453E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2453 Sushi 14. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACTTTGCTTCCAACCGCTCC 0.512000 8 74 0 0 0.000157383 0 0 AZI1 22994 broad.mit.edu 37 17 79164543 79164543 + Silent SNP G G A rs139538707 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:79164543G>A ENST00000269392.4 - 24 3259 c.3012C>T c.(3010-3012)ttC>ttT p.F1004F AZI1_ENST00000450824.2_Silent_p.F1001F|AZI1_ENST00000575907.1_Silent_p.F968F|AZI1_ENST00000374782.3_Silent_p.F965F NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 1004 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCCGGTCCTCGAACTCCTGGC 0.687000 12 16 0 0 0.000219431 0 0 SEC16A 9919 broad.mit.edu 37 9 139371752 139371752 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:139371752G>A ENST00000313050.7 - 1 389 c.316C>T c.(316-318)Ccc>Tcc p.P106S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2070 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCTCACAGGGTCCCTGAGAG 0.587000 27 51 0 0 0.000184323 0 0 ANK3 288 broad.mit.edu 37 10 61802491 61802491 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:61802491C>T ENST00000280772.1 - 43 13283 c.13092G>A c.(13090-13092)acG>acA p.T4364T ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T|ANK3_ENST00000373827.2_Silent_p.T1848T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4364 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTTTCTTCGTTTTCACCT 0.398000 26 71 0 0 0.000339439 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161019118 161019118 + Nonsense_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:161019118C>A ENST00000368013.3 - 12 2013 c.1693G>T c.(1693-1695)Gag>Tag p.E565* ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.E565*|ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.E388* NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 565 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACAGAGAACTCCTCCACCTGT 0.622000 7 30 0.000274275 0.00566128 0.000274275 1 0 OR2M5 127059 broad.mit.edu 37 1 248309067 248309067 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:248309067G>A ENST00000366476.1 + 1 618 c.618G>A c.(616-618)atG>atA p.M206I NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) GTATAGTAATGATTGTTTTTC 0.408000 15 94 0 0 5.01169e-05 0 0 USH2A 7399 broad.mit.edu 37 1 215853584 215853584 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:215853584A>C ENST00000366943.2 - 62 12587 c.12201T>G c.(12199-12201)agT>agG p.S4067R USH2A_ENST00000307340.3_Missense_Mutation_p.S4067R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4067 Fibronectin type-III 26. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTCTCAGTCCACTTGGGGAAG 0.423000 HNSCC(13;0.011) 8 74 0 0 0.000274275 0 0 FREM1 158326 broad.mit.edu 37 9 14863874 14863874 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:14863874C>T ENST00000380881.4 - 4 1077 c.262G>A c.(262-264)Gaa>Aaa p.E88K FREM1_ENST00000422223.2_Missense_Mutation_p.E88K|FREM1_ENST00000380880.3_Missense_Mutation_p.E88K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 88 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding p.E88K(1) breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TACTTGACTTCGTTGGGAAGG 0.413000 7 46 0 0 3.86212e-05 0 0 TRPC7 57113 broad.mit.edu 37 5 135692426 135692426 + Missense_Mutation SNP G G A rs138178870 by1000genomes TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:135692426G>A ENST00000513104.1 - 2 932 c.650C>T c.(649-651)tCg>tTg p.S217L TRPC7_ENST00000426057.2_Missense_Mutation_p.S217L|TRPC7_ENST00000355180.3_Missense_Mutation_p.S217L NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 217 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTCATGCGCGAGCGCGAGTG 0.612000 9 32 0 0 0.000274275 0 0 ZNF831 128611 broad.mit.edu 37 20 57782092 57782092 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:57782092G>A ENST00000371030.2 + 3 4008 c.4008G>A c.(4006-4008)caG>caA p.Q1336Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1336 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCCCTGGGCAGACCTCTTCAG 0.582000 12 52 0 0 0.000219431 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283074 69283074 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:69283074G>A ENST00000338352.2 + 1 734 c.700G>A c.(700-702)Gag>Aag p.E234K NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 234 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GACCCCCATCGAGGTGATCCA 0.617000 11 6 0 0 6.40141e-05 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249191 90249191 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:90249191G>A ENST00000468879.1 + 0 328 GGGCCAGTCAGGGCATTAGCA 0.498000 21 57 0 0 0.000229342 0 0 ZNF425 155054 broad.mit.edu 37 7 148802118 148802118 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:148802118G>A ENST00000378061.2 - 4 977 c.845C>T c.(844-846)aCc>aTc p.T282I NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 282 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GTACCGGAAGGTCTTGTCGCA 0.637000 14 29 0 0 0.000308642 0 0 CA10 56934 broad.mit.edu 37 17 49710851 49710851 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:49710851T>G ENST00000451037.2 - 8 1890 c.950A>C c.(949-951)aAg>aCg p.K317T CA10_ENST00000285273.4_Missense_Mutation_p.K317T|CA10_ENST00000570565.1_Missense_Mutation_p.K242T|CA10_ENST00000340813.6_Missense_Mutation_p.K323T|CA10_ENST00000442502.2_Missense_Mutation_p.K317T NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 317 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) ATACTGAAGCTTCTGGGCTCG 0.507000 5 37 0 0 8.12818e-05 0 0 PCDHA13 56136 broad.mit.edu 37 5 140264055 140264055 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:140264055G>A ENST00000289272.2 + 1 2202 c.2202G>A c.(2200-2202)ccG>ccA p.P734P PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P734P|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron 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) CGTGCGCGCCGGGCAAGCCCA 0.682000 27 65 0 0 0.000191422 0 0 C9orf84 158401 broad.mit.edu 37 9 114454514 114454514 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:114454514G>A ENST00000394779.3 - 23 3678 c.3434C>T c.(3433-3435)tCa>tTa p.S1145L C9orf84_ENST00000318737.4_Missense_Mutation_p.S1184L|C9orf84_ENST00000394777.4_Missense_Mutation_p.S1110L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S1184L NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 1184 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTGATTGTATGAAGTCACAGG 0.373000 9 59 0 0 6.40141e-05 0 0 ATP12A 479 broad.mit.edu 37 13 25265365 25265365 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:25265365G>A ENST00000218548.6 + 8 1396 c.1063G>A c.(1063-1065)Gag>Aag p.E355K ATP12A_ENST00000381946.3_Missense_Mutation_p.E349K NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 349 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.E349K(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAATGTGCCCGAGGGCCTCCT 0.567000 7 17 0 0 3.86212e-05 0 0 MEF2C 4208 broad.mit.edu 37 5 88027647 88027647 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:88027647G>A ENST00000504921.2 - 7 1381 c.709C>T c.(709-711)Caa>Taa p.Q237* MEF2C_ENST00000424173.2_Nonsense_Mutation_p.Q235*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.Q255*|MEF2C_ENST00000437473.2_Nonsense_Mutation_p.Q237*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.Q237*|MEF2C_ENST00000506554.1_Nonsense_Mutation_p.Q237*|MEF2C_ENST00000508569.1_Nonsense_Mutation_p.Q237*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.Q237*|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.Q237*|MEF2C_ENST00000539796.1_Nonsense_Mutation_p.Q189* Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 237 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) GATTTTGCTTGCATATTCTTG 0.433000 HNSCC(66;0.2) 5 23 0 0 1.23904e-05 0 0 KCNT2 343450 broad.mit.edu 37 1 196295984 196295984 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:196295984G>A ENST00000367433.5 - 19 2240 c.2139C>T c.(2137-2139)gcC>gcT p.A713A KCNT2_ENST00000294725.8_Silent_p.A713A|KCNT2_ENST00000367431.4_Silent_p.A663A|KCNT2_ENST00000451324.2_Silent_p.A324A|KCNT2_ENST00000498426.1_Intron Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 713 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TGAATCCATAGGCTTTTGCAT 0.318000 9 50 0 0 3.86212e-05 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180675 142180675 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:142180675G>A ENST00000390368.2 - 0 249 ATCAGCCTCAGCCCCATGCCT 0.507000 36 215 0 0 0.000106405 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30690047 30690047 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:30690047G>A ENST00000215790.7 - 7 922 c.758C>T c.(757-759)tCg>tTg p.S253L TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S165L|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S260L|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.S127L NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 253 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GGCCACCGGCGACACCTTCTG 0.612000 38 51 0 0 0.000228196 0 0 PSME3 10197 broad.mit.edu 37 17 40986569 40986569 + Nonsense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:40986569T>G ENST00000293362.3 + 3 274 c.113T>G c.(112-114)tTa>tGa p.L38* PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Nonsense_Mutation_p.L49*|PSME3_ENST00000590720.1_Nonsense_Mutation_p.L38*|PSME3_ENST00000545225.1_5'UTR|PSME3_ENST00000541124.1_3'UTR NM_005789.3|NM_176863.2 NP_005780.2|NP_789839.1 P61289 PSME3_HUMAN proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) 38 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding NS(1)|cervix(1)|large_intestine(3)|lung(1) 6 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CCAAAGAAGTTATTAGAACTT 0.398000 35 119 0 0 0.000106405 0 0 OR2W3 343171 broad.mit.edu 37 1 248059688 248059688 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:248059688C>T ENST00000537741.1 + 3 1057 c.800C>T c.(799-801)tCc>tTc p.S267F OR2W3_ENST00000360358.3_Missense_Mutation_p.S267F Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCCAGTTCTTCCCAGGACCAG 0.537000 31 39 0 0 8.91981e-05 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647337 33647337 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:33647337G>A ENST00000558425.1 - 2 262 c.263C>T c.(262-264)aCc>aTc p.T88I CCTGGAGATGGTGAATCGGCC 0.512000 92 131 0 0 0.000147903 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006398 16006398 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:16006398G>A ENST00000221700.5 - 3 356 c.261C>T c.(259-261)ggC>ggT p.G87G CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 87 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGACCTTAAAGCCCTGGGGGT 0.572000 35 46 0 0 0.000319135 0 0 GPR179 440435 broad.mit.edu 37 17 36483144 36483144 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:36483144G>C ENST00000342292.4 - 11 6328 c.6308C>G c.(6307-6309)gCa>gGa p.A2103G GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2103 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACTGCCTGCTGCCTCAGAACT 0.602000 6 107 0 0 3.59834e-05 0 0 SFRP1 6422 broad.mit.edu 37 8 41166145 41166145 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:41166145G>A ENST00000220772.3 - 1 871 c.534C>T c.(532-534)tcC>tcT p.S178S NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 178 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CTTGGGGCTTGGAGGCTTCGG 0.677000 6 4 0 0 0.000157383 0 0 SLC14A2 8170 broad.mit.edu 37 18 43247925 43247925 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:43247925G>A ENST00000255226.6 + 14 2661 c.1845G>A c.(1843-1845)gcG>gcA p.A615A SLC14A2_ENST00000586448.1_Silent_p.A615A|SLC14A2_ENST00000589658.1_Silent_p.A92A NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 615 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTGGTGGGCGATCTCAGGCT 0.562000 15 50 0 0 0.000422831 0 0 MYH2 4620 broad.mit.edu 37 17 10438462 10438462 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:10438462C>T ENST00000245503.5 - 19 2492 c.2108G>A c.(2107-2109)gGt>gAt p.G703D CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G703D|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 703 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTCCAGCACACCGTTACACCT 0.463000 18 25 0 0 5.01169e-05 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605974 1605974 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:1605974G>A ENST00000382171.2 - 1 539 c.506C>T c.(505-507)tCt>tTt p.S169F KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 169 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCCCCACAAGAACCACAGGC 0.662000 17 28 0 0 5.01169e-05 0 0 AKAP11 11215 broad.mit.edu 37 13 42877183 42877183 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:42877183T>A ENST00000025301.2 + 8 4476 c.4301T>A c.(4300-4302)tTt>tAt p.F1434Y NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1434 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GAAGGTTACTTTTGTAAAAAT 0.353000 8 24 0 0 3.86212e-05 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356804 2356804 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:2356804C>T ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA GTAGTGTCCTCGAACTACCTG 0.542000 7 69 0 0 0.000274275 0 0 ZNF75A 7627 broad.mit.edu 37 16 3367756 3367756 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:3367756C>T ENST00000574298.1 + 6 1251 c.778C>T c.(778-780)Ctt>Ttt p.L260F ZNF75A_ENST00000498240.2_3'UTR NM_153028.2 NP_694573.1 Q96N20 ZN75A_HUMAN zinc finger protein 75a 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(7)|prostate(1) 12 GAACTCCCACCTTATTAAACA 0.423000 5 39 0 0 8.12818e-05 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905576 54905576 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:54905576G>A ENST00000474759.1 + 18 1685 c.1637G>A c.(1636-1638)gGa>gAa p.G546E CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G452E|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G546E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G546E NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 546 Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACGAAGAAGGAAAAAAGCGA 0.448000 12 50 0 0 0.000308642 0 0 KIAA0408 9729 broad.mit.edu 37 6 127768485 127768485 + Missense_Mutation SNP C C T rs142527882 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:127768485C>T ENST00000483725.3 - 5 1315 c.979G>A c.(979-981)Gaa>Aaa p.E327K SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 327 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) GTTTTCCCTTCATTTGGATAC 0.418000 12 17 0 0 0.00010058 0 0 TDRD6 221400 broad.mit.edu 37 6 46659643 46659643 + Nonsense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:46659643G>T ENST00000544460.1 + 1 4032 c.3778G>T c.(3778-3780)Gaa>Taa p.E1260* TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1260* NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1260 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AAAGAAAGAAGAAATTTCTGC 0.328000 8 120 0.000157383 0.00325516 0.000157383 1 0 LILRA2 11027 broad.mit.edu 37 19 55086778 55086778 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:55086778G>A ENST00000251377.3 + 6 844 c.711G>A c.(709-711)ggG>ggA p.G237G LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.G237G|LILRA2_ENST00000391737.1_Silent_p.G225G|LILRA2_ENST00000391738.3_Silent_p.G237G|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) TGGCCCCCGGGGAGAGCCTGA 0.567000 14 70 0 0 9.7654e-05 0 0 ME3 10873 broad.mit.edu 37 11 86382865 86382865 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:86382865G>C ENST00000543262.1 - 2 448 c.122C>G c.(121-123)gCg>gGg p.A41G ME3_ENST00000359636.2_Missense_Mutation_p.A41G|ME3_ENST00000393324.3_Missense_Mutation_p.A41G NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 41 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CACAGGGCGCGCCGGGCCAGG 0.726000 7 39 0 0 0.000442599 0 0 CRB1 23418 broad.mit.edu 37 1 197313541 197313541 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:197313541C>T ENST00000367400.3 + 3 918 c.783C>T c.(781-783)ctC>ctT p.L261L CRB1_ENST00000538660.1_Silent_p.L261L|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.L192L NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 261 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ACTGTGAACTCAACACTGATG 0.517000 22 40 0 0 0.000229342 0 0 MAP3K5 4217 broad.mit.edu 37 6 136935337 136935337 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:136935337C>T ENST00000359015.4 - 16 2598 c.2238G>A c.(2236-2238)gaG>gaA p.E746E MAP3K5_ENST00000355845.4_5'UTR NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 746 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGAAACCATTCTCACTGAAAG 0.393000 35 76 0 0 0.000491102 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389917 77389917 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:77389917G>A ENST00000282849.5 - 9 1798 c.1380C>T c.(1378-1380)atC>atT p.I460I NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 460 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGGGAGACATGATATTGCCTT 0.448000 11 37 0 0 0.000219431 0 0 CDHR2 54825 broad.mit.edu 37 5 176011422 176011422 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:176011422G>A ENST00000510636.1 + 19 2414 c.2140G>A c.(2140-2142)Ggc>Agc p.G714S CDHR2_ENST00000506348.1_Missense_Mutation_p.G714S|CDHR2_ENST00000261944.5_Missense_Mutation_p.G714S NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 714 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 AGTGCTAGTGGGCGTGGTGAA 0.612000 20 60 0 0 0.000175454 0 0 MLIP 90523 broad.mit.edu 37 6 53986346 53986346 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:53986346C>T ENST00000514921.1 + 2 278 c.165C>T c.(163-165)ttC>ttT p.F55F MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Silent_p.F49F|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000502396.1_Silent_p.F66F|MLIP_ENST00000274897.5_Silent_p.F55F|MLIP_ENST00000370877.2_Intron Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 55 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 CCTCTAAATTCCTTGTTAAAA 0.358000 15 78 0 0 0.000422831 0 0 SEMA6A 57556 broad.mit.edu 37 5 115813769 115813769 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:115813769G>A ENST00000343348.6 - 14 2296 c.1509C>T c.(1507-1509)ttC>ttT p.F503F CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.F503F|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.F35F|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.F503F NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 503 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CACAGGTAGAGAACGCAACAT 0.448000 18 40 0 0 7.07596e-05 0 0 TOX2 84969 broad.mit.edu 37 20 42697310 42697310 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:42697310C>T ENST00000358131.5 + 8 1659 c.1451C>T c.(1450-1452)tCg>tTg p.S484L TOX2_ENST00000423191.1_Missense_Mutation_p.S460L|TOX2_ENST00000341197.3_Missense_Mutation_p.S502L|TOX2_ENST00000435864.2_Missense_Mutation_p.S380L|TOX2_ENST00000372999.1_Missense_Mutation_p.S460L NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGGGACAAATCGCTCTACCTC 0.627000 10 27 0 0 6.40141e-05 0 0 LRRC7 57554 broad.mit.edu 37 1 70503885 70503885 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:70503885C>T ENST00000310961.5 + 22 2697 c.2279C>T c.(2278-2280)cCt>cTt p.P760L LRRC7_ENST00000035383.5_Missense_Mutation_p.P755L|LRRC7_ENST00000415775.2_Missense_Mutation_p.P39L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 755 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CCACAGCGTCCTGACCGGCTG 0.517000 60 105 0 0 0.000147903 0 0 LRRC49 54839 broad.mit.edu 37 15 71300792 71300792 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:71300792G>A ENST00000260382.5 + 12 1504 c.1244G>A c.(1243-1245)gGg>gAg p.G415E LRRC49_ENST00000560369.1_Missense_Mutation_p.G420E|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103E|LRRC49_ENST00000544974.2_Missense_Mutation_p.G405E|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121E|LRRC49_ENST00000443425.2_Missense_Mutation_p.G371E NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 415 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 GAAGTGGACGGGGATACACTT 0.423000 10 47 0 0 0.000442599 0 0 ZNF618 114991 broad.mit.edu 37 9 116811415 116811415 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:116811415C>T ENST00000288466.7 + 14 1653 c.1554C>T c.(1552-1554)atC>atT p.I518I ZNF618_ENST00000374126.5_Silent_p.I611I|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I611I(1)|p.I518I(1) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TGTCGGAGATCAGGACAGTGT 0.607000 24 70 0 0 0.000227799 0 0 CCDC180 100499483 broad.mit.edu 37 9 100116955 100116955 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:100116955T>C ENST00000375202.2 + 37 4591 c.3239T>C c.(3238-3240)aTg>aCg p.M1080T CCDC180_ENST00000529487.1_Missense_Mutation_p.M1080T|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.M1051T coiled-coil domain containing 180 AGTGTCATCATGCTCAACATG 0.522000 19 50 0 0 0.000132079 0 0 BCLAF1 9774 broad.mit.edu 37 6 136593187 136593187 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:136593187C>T ENST00000531224.1 - 8 2241 c.1989G>A c.(1987-1989)agG>agA p.R663R BCLAF1_ENST00000527759.1_Silent_p.R661R|BCLAF1_ENST00000353331.4_Silent_p.R661R|BCLAF1_ENST00000530767.1_Silent_p.R490R|BCLAF1_ENST00000527536.1_Silent_p.R663R|BCLAF1_ENST00000392348.2_Silent_p.R661R NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 663 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGGTATGCTTCCTCAGGGTAC 0.303000 5 38 0 0 3.59834e-05 0 0 MED12L 116931 broad.mit.edu 37 3 150845620 150845620 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:150845620C>T ENST00000474524.1 + 4 443 c.405C>T c.(403-405)atC>atT p.I135I MED12L_ENST00000422248.2_Silent_p.I135I|MED12L_ENST00000273432.4_Silent_p.I135I|MED12L_ENST00000309237.4_Silent_p.I135I NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 135 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGTTCCTATCCTTAGTAAAA 0.338000 18 34 0 0 9.7654e-05 0 0 DSG1 1828 broad.mit.edu 37 18 28906962 28906962 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:28906962C>T ENST00000257192.4 + 3 422 c.210C>T c.(208-210)atC>atT p.I70I NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 70 Cadherin 1. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GGAACCCAATCGCCAAAGTAG 0.413000 9 76 0 0 3.86212e-05 0 0 ANK3 288 broad.mit.edu 37 10 61833835 61833835 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:61833835T>C ENST00000280772.1 - 37 6995 c.6804A>G c.(6802-6804)gaA>gaG p.E2268E ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2268 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACATGGTTTCTTCAATTCTTT 0.478000 15 53 0 0 7.07596e-05 0 0 PRPF8 10594 broad.mit.edu 37 17 1579541 1579541 + Silent SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:1579541A>G ENST00000572621.1 - 16 2777 c.2512T>C c.(2512-2514)Ttg>Ctg p.L838L PRPF8_ENST00000304992.6_Silent_p.L838L Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 838 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AAGATGAGCAACTTGGTGTCA 0.522000 23 63 0 0 0.000375601 0 0 C11orf85 283129 broad.mit.edu 37 11 64726865 64726865 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:64726865G>A ENST00000530444.1 - 3 223 c.13C>T c.(13-15)Ccc>Tcc p.P5S C11orf85_ENST00000536065.1_5'UTR|C11orf85_ENST00000301896.5_Missense_Mutation_p.P5S|C11orf85_ENST00000432175.1_Missense_Mutation_p.P5S Q3KP22 CK085_HUMAN chromosome 11 open reading frame 85 5 breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 7 TAGGTAAAGGGTTTTAAACTC 0.373000 25 72 0 0 0.000184323 0 0 FAM91A1 157769 broad.mit.edu 37 8 124818335 124818335 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:124818335A>T ENST00000334705.7 + 20 2144 c.1898A>T c.(1897-1899)aAt>aTt p.N633I FAM91A1_ENST00000521166.1_Missense_Mutation_p.N633I NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 633 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) ACTCGTGTCAATATGGGTGTT 0.388000 12 82 0 0 0.000151284 0 0 FSTL1 11167 broad.mit.edu 37 3 120169561 120169561 + Silent SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:120169561C>G ENST00000295633.3 - 2 389 c.33G>C c.(31-33)gcG>gcC p.A11A FSTL1_ENST00000485968.1_5'UTR|FSTL1_ENST00000424703.2_Silent_p.A11A NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 11 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) CCGCCACCAGCGCGAGCGCGA 0.721000 5 5 0 0 1.23904e-05 0 0 SLIT3 6586 broad.mit.edu 37 5 168212958 168212958 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:168212958C>T ENST00000519560.1 - 12 1524 c.1105G>A c.(1105-1107)Gag>Aag p.E369K SLIT3_ENST00000404867.3_Missense_Mutation_p.E369K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E369K NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 369 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) TTGACAATCTCGGTGATCTTG 0.522000 8 36 0 0 0.000274275 0 0 PTCH2 8643 broad.mit.edu 37 1 45292598 45292598 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:45292598C>T ENST00000447098.2 - 17 2682 c.2671G>A c.(2671-2673)Gac>Aac p.D891N PTCH2_ENST00000372192.3_Missense_Mutation_p.D891N NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 891 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CCCGTGGTGTCGTATTTGTCG 0.642000 Basal Cell Nevus syndrome 40 116 0 0 0.000147903 0 0 SGMS1 259230 broad.mit.edu 37 10 52103437 52103437 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:52103437G>A ENST00000361781.2 - 7 1397 c.438C>T c.(436-438)ttC>ttT p.F146F SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Silent_p.F146F NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 152 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TGGTGAGAACGAAACAGGAAA 0.502000 7 25 0 0 0.000157383 0 0 AMOTL2 51421 broad.mit.edu 37 3 134086519 134086519 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:134086519G>A ENST00000514516.1 - 3 1213 c.1035C>T c.(1033-1035)tcC>tcT p.S345S AMOTL2_ENST00000249883.5_Silent_p.S287S|AMOTL2_ENST00000422605.2_Silent_p.S287S|AMOTL2_ENST00000513145.1_Silent_p.S287S NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 287 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GTGGACTGAGGGAGCTCAGGG 0.662000 9 15 0 0 0.000274275 0 0 NSUN2 54888 broad.mit.edu 37 5 6600246 6600246 + Silent SNP G G A rs1057838 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:6600246G>A ENST00000264670.6 - 19 2408 c.2097C>T c.(2095-2097)ctC>ctT p.L699L NSUN2_ENST00000506139.1_Silent_p.L664L|NSUN2_ENST00000539938.1_Silent_p.L463L NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 699 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CCATCATCCTGAGATAATGAA 0.522000 25 29 0 0 0.00047179 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750030 140750030 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:140750030T>C ENST00000576222.1 + 1 200 c.69T>C c.(67-69)tcT>tcC p.S23S PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCTCTCTTTGTTAGACC 0.582000 10 31 0 0 0.000442599 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269501 150269501 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:150269501C>T ENST00000255945.2 + 3 518 c.343C>T c.(343-345)Cat>Tat p.H115Y GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.H129Y NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 115 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCAGGGCCTCATGCTCTGCT 0.507000 9 46 0 0 0.000274275 0 0 C9orf131 138724 broad.mit.edu 37 9 35045092 35045092 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:35045092C>T ENST00000312292.5 + 2 2513 c.2466C>T c.(2464-2466)ttC>ttT p.F822F C9orf131_ENST00000354479.5_Silent_p.F749F|C9orf131_ENST00000421362.2_Silent_p.F774F NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 822 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TTCCAGACTTCTGGGGACTCC 0.552000 25 227 0 0 0.000279167 0 0 FAT2 2196 broad.mit.edu 37 5 150925776 150925776 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:150925776G>C ENST00000261800.5 - 9 4924 c.4912C>G c.(4912-4914)Cca>Gca p.P1638A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1638 Cadherin 14. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCATTGTGGGGAGCCTTGA 0.468000 4 62 0 0 1.23904e-05 0 0 MKRN3 7681 broad.mit.edu 37 15 23811356 23811356 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:23811356C>T ENST00000314520.3 + 1 903 c.427C>T c.(427-429)Cct>Tct p.P143S MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 143 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGGTGGAGGCCCTAGCACGGC 0.652000 12 29 0 0 0.000151284 0 0 PDE6A 5145 broad.mit.edu 37 5 149310691 149310691 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:149310691G>A ENST00000255266.5 - 4 877 c.758C>T c.(757-759)aCg>aTg p.T253M NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 253 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTCGATGTCCGTAAGTTCTTC 0.443000 14 52 0 0 0.000422831 0 0 PTPRR 5801 broad.mit.edu 37 12 71094942 71094942 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:71094942G>A ENST00000283228.2 - 7 1621 c.1169C>T c.(1168-1170)tCa>tTa p.S390L PTPRR_ENST00000549308.1_Missense_Mutation_p.S145L|PTPRR_ENST00000378778.1_Missense_Mutation_p.S184L|PTPRR_ENST00000342084.4_Missense_Mutation_p.S278L|PTPRR_ENST00000440835.2_Missense_Mutation_p.S145L NM_002849.3 NP_002840.2 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 390 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GAGTAAATGTGAACTTGCCAC 0.458000 9 17 0 0 0.000151284 0 0 ITGA5 3678 broad.mit.edu 37 12 54798495 54798495 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:54798495C>T ENST00000293379.4 - 13 1670 c.1409G>A c.(1408-1410)gGa>gAa p.G470E RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 470 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 ACCAGGATATCCATTGCCATC 0.562000 OREG0021554 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 52 0 0 0.000106405 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013163 73013163 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:73013163C>T ENST00000308744.6 + 4 1301 c.1203C>T c.(1201-1203)taC>taT p.Y401Y NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.Y299Y|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.Y302Y NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 401 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCTCAGACTACGCTGACCTTT 0.468000 27 30 0 0 9.22233e-05 0 0 ZNF335 63925 broad.mit.edu 37 20 44592255 44592255 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:44592255G>T ENST00000322927.2 - 9 1490 c.1390C>A c.(1390-1392)Ccc>Acc p.P464T ZNF335_ENST00000426788.1_Missense_Mutation_p.P309T NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CACAGGAAGGGCCTCAAAAGT 0.572000 49 65 1.18269e-54 2.5075e-53 0.000147903 1 0 SPRY3 10251 broad.mit.edu 37 X 155003856 155003856 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:155003856C>T ENST00000302805.2 + 2 754 c.323C>T c.(322-324)tCa>tTa p.S108L NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 108 multicellular organismal development|regulation of signal transduction cytoplasm|membrane all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCCTCACCTTCAGGCCAATCC 0.552000 19 43 0 0 0.000175454 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:30795310C>T ENST00000013222.5 + 3 651 c.635C>T c.(634-636)tCc>tTc p.S212F INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 24 25 0 0 0.000295444 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474889 20474889 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:20474889C>T ENST00000375102.3 + 5 733 c.631C>T c.(631-633)Ccc>Tcc p.P211S NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 168 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CCCCGCCCCTCCCTAGAGCCT 0.657000 7 25 0 0 0.000442599 0 0 E2F1 1869 broad.mit.edu 37 20 32268156 32268156 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:32268156C>T ENST00000343380.5 - 2 467 c.328G>A c.(328-330)Ggc>Agc p.G110S NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 110 KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150). apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 CGGCCTCTGCCCCGAGCTGGC 0.602000 11 29 0 0 0.00010058 0 0 ZBTB21 49854 broad.mit.edu 37 21 43411272 43411272 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:43411272G>A ENST00000310826.5 - 3 3116 c.2933C>T c.(2932-2934)cCc>cTc p.P978L ZBTB21_ENST00000398511.3_Missense_Mutation_p.P978L|ZBTB21_ENST00000398499.1_Missense_Mutation_p.P978L|ZBTB21_ENST00000398505.3_Missense_Mutation_p.P777L NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 AGAGTTTGTGGGAACAGGGCA 0.562000 44 76 0 0 0.000147903 0 0 SLC6A11 6538 broad.mit.edu 37 3 10975831 10975831 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:10975831C>T ENST00000254488.2 + 12 1620 c.1554C>T c.(1552-1554)atC>atT p.I518I NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 518 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GCTGGATGATCATGACCCCTG 0.562000 22 80 0 0 0.000375601 0 0 NAV2 89797 broad.mit.edu 37 11 20104716 20104716 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:20104716C>T ENST00000396085.1 + 27 5859 c.5498C>T c.(5497-5499)tCc>tTc p.S1833F NAV2_ENST00000349880.4_Missense_Mutation_p.S1830F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1818F|NAV2_ENST00000396087.3_Missense_Mutation_p.S1889F|NAV2_ENST00000533917.1_Missense_Mutation_p.S894F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1820F|NAV2_ENST00000311043.8_Missense_Mutation_p.S894F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1766F NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1889 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AATTCTCACTCCAACTCTCTG 0.483000 11 102 0 0 6.40141e-05 0 0 ZNF77 58492 broad.mit.edu 37 19 2933614 2933614 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:2933614G>A ENST00000314531.4 - 4 1603 c.1511C>T c.(1510-1512)tCc>tTc p.S504F NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) AAGGGACGAGGAACAACTGTA 0.498000 22 57 0 0 0.00047179 0 0 CXorf36 79742 broad.mit.edu 37 X 45013293 45013293 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:45013293G>A ENST00000398000.2 - 4 897 c.823C>T c.(823-825)Ctg>Ttg p.L275L CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 275 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 AAAGACTCCAGGACACCCAGG 0.532000 26 23 0 0 0.000409698 0 0 STRC 161497 broad.mit.edu 37 15 43893105 43893105 + Silent SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:43893105T>G ENST00000450892.2 - 25 4886 c.4809A>C c.(4807-4809)ccA>ccC p.P1603P STRC_ENST00000541030.1_Silent_p.P830P NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1603 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GGAGCTCCTCTGGCCGCAGTC 0.557000 29 20 0 0 0.000191422 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23059404 23059404 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:23059404C>T ENST00000221132.3 - 4 610 c.546G>A c.(544-546)acG>acA p.T182T NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 182 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TGTTCCTGGTCGTGGTGCAGG 0.512000 15 41 0 0 0.000132079 0 0 SCN11A 11280 broad.mit.edu 37 3 38988284 38988284 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:38988284G>A ENST00000302328.3 - 2 580 c.382C>T c.(382-384)Cat>Tat p.H128Y SCN11A_ENST00000444237.2_Missense_Mutation_p.H128Y|SCN11A_ENST00000450244.1_Missense_Mutation_p.H128Y|SCN11A_ENST00000456224.3_Missense_Mutation_p.H128Y NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 128 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.H128N(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGATATGAATGGACTGAGACT 0.408000 25 134 0 0 0.000147802 0 0 XIRP2 129446 broad.mit.edu 37 2 168099458 168099458 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:168099458G>A ENST00000409195.1 + 9 1645 c.1556G>A c.(1555-1557)aGt>aAt p.S519N XIRP2_ENST00000295237.9_Missense_Mutation_p.S519N|XIRP2_ENST00000409273.1_Missense_Mutation_p.S297N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 344 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 GATTATATCAGTGAAGTTTCT 0.328000 4 18 0 0 1.23904e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9046965 9046965 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:9046965C>T ENST00000397910.4 - 5 34869 c.34666G>A c.(34666-34668)Gac>Aac p.D11556N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11558 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTACTGGTGTCTGTCCCAGAA 0.517000 5 18 0 0 3.59834e-05 0 0 KCNH5 27133 broad.mit.edu 37 14 63473173 63473173 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:63473173A>G ENST00000322893.7 - 3 483 c.215T>C c.(214-216)tTg>tCg p.L72S KCNH5_ENST00000394968.1_Missense_Mutation_p.L14S|KCNH5_ENST00000394964.2_Missense_Mutation_p.L14S|KCNH5_ENST00000420622.2_Missense_Mutation_p.L72S NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 72 PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTGTCAGTCAATTCCCCATA 0.353000 6 51 0 0 8.12818e-05 0 0 IGHV2-70 28454 broad.mit.edu 37 14 107178854 107178854 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:107178854G>A ENST00000390634.2 - 0 398 TGTGTCCACAGGGTCCATGTT 0.507000 9 76 0 0 3.86212e-05 0 0 ARFIP2 23647 broad.mit.edu 37 11 6499989 6499989 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:6499989G>A ENST00000254584.2 - 5 599 c.516C>T c.(514-516)agC>agT p.S172S ARFIP2_ENST00000525235.1_Silent_p.S172S|ARFIP2_ENST00000423813.2_Silent_p.S134S|ARFIP2_ENST00000396777.3_Silent_p.S172S|ARFIP2_ENST00000445086.2_Silent_p.S87S NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 172 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGGACTTCTGGCTGAGGTCAG 0.622000 4 19 0 0 1.23904e-05 0 0 TEX12 56158 broad.mit.edu 37 11 112042594 112042594 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:112042594C>T ENST00000280358.4 + 5 459 c.327C>T c.(325-327)ttC>ttT p.F109F RP11-356J5.4_ENST00000527589.1_RNA|TEX12_ENST00000530752.1_Silent_p.F109F|SDHD_ENST00000532612.1_Intron|SDHD_ENST00000532699.1_Intron NM_031275.4 NP_112565.1 Q9BXU0 TEX12_HUMAN testis expressed 12 109 endometrium(1)|large_intestine(2)|lung(1) 4 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.2e-06)|BRCA - Breast invasive adenocarcinoma(274;1.4e-06)|all cancers(92;1.97e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) AAAGAGAGTTCCTGCGACAGA 0.323000 87 82 0 0 0.000147903 0 0 FREM1 158326 broad.mit.edu 37 9 14823208 14823208 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:14823208C>T ENST00000380881.4 - 14 3105 c.2290G>A c.(2290-2292)Ggg>Agg p.G764R FREM1_ENST00000422223.2_Missense_Mutation_p.G763R|FREM1_ENST00000380880.3_Missense_Mutation_p.G763R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 763 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAGCAGATCCCATGCAAAGTA 0.443000 29 42 0 0 0.000339439 0 0 PLCB4 5332 broad.mit.edu 37 20 9424845 9424845 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:9424845G>A ENST00000378501.2 + 28 2814 c.2799G>A c.(2797-2799)aaG>aaA p.K933K PLCB4_ENST00000414679.2_Silent_p.K945K|PLCB4_ENST00000334005.3_Silent_p.K933K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.K933K|PLCB4_ENST00000378473.3_Silent_p.K945K|PLCB4_ENST00000278655.4_Silent_p.K933K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 933 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.K933N(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AGCATTTAAAGAAACAGCAGA 0.318000 7 74 0 0 0.000274275 0 0 DLG4 1742 broad.mit.edu 37 17 7107071 7107071 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:7107071G>A ENST00000399510.2 - 7 1256 c.404C>T c.(403-405)cCa>cTa p.P135L DLG4_ENST00000399506.2_Missense_Mutation_p.P92L|DLG4_ENST00000485100.1_Missense_Mutation_p.P89L|DLG4_ENST00000302955.6_Missense_Mutation_p.P89L NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 92 PDZ 1. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GAAAATGGATGGGTCGTCACC 0.607000 11 26 0 0 0.000219431 0 0 SULT1C3 442038 broad.mit.edu 37 2 108869811 108869811 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:108869811C>T ENST00000376700.1 + 3 312 c.312C>T c.(310-312)ttC>ttT p.F104F SULT1C3_ENST00000329106.2_Silent_p.F104F Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 104 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ATTTGGAGTTCGTTCTTGAAA 0.358000 4 14 0 0 1.23904e-05 0 0 CBLN3 643866 broad.mit.edu 37 14 24898030 24898030 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:24898030G>A ENST00000267406.6 - 1 701 c.231C>T c.(229-231)gtC>gtT p.V77V CBLN3_ENST00000555436.1_Intron NM_001039771.2 NP_001034860.1 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 77 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) GGTGGCTTCGGACCGCAGCAA 0.677000 4 15 0 0 0.00024832 0 0 DLG4 1742 broad.mit.edu 37 17 7107072 7107072 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:7107072G>A ENST00000399510.2 - 7 1255 c.403C>T c.(403-405)Cca>Tca p.P135S DLG4_ENST00000399506.2_Missense_Mutation_p.P92S|DLG4_ENST00000485100.1_Missense_Mutation_p.P89S|DLG4_ENST00000302955.6_Missense_Mutation_p.P89S NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 92 PDZ 1. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 AAAATGGATGGGTCGTCACCG 0.607000 11 25 0 0 0.000219431 0 0 MAEL 84944 broad.mit.edu 37 1 166959028 166959028 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:166959028G>A ENST00000367872.4 + 2 431 c.187G>A c.(187-189)Gcc>Acc p.A63T MAEL_ENST00000367870.2_Intron NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 63 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 AGAATGGAGGGCCGCTCAGGG 0.517000 10 26 0 0 0.00010058 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407338 75407338 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:75407338C>T ENST00000394810.2 - 4 2221 c.2072G>A c.(2071-2073)gGg>gAg p.G691E SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.G467E NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 691 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) ACTCCTGGCCCCTACTGGCTG 0.602000 20 48 0 0 0.000132079 0 0 SLC4A2 6522 broad.mit.edu 37 7 150764051 150764051 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:150764051C>T ENST00000485713.1 + 7 1977 c.937C>T c.(937-939)Cga>Tga p.R313* SLC4A2_ENST00000392826.2_Nonsense_Mutation_p.R304*|SLC4A2_ENST00000461735.1_Nonsense_Mutation_p.R299*|SLC4A2_ENST00000413384.2_Nonsense_Mutation_p.R313*|SLC4A2_ENST00000310317.5_Nonsense_Mutation_p.R231* NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 313 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCTCGGGCCCGACCCCGGGC 0.652000 38 35 0 0 0.000147903 0 0 SCNN1B 6338 broad.mit.edu 37 16 23379253 23379253 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:23379253C>T ENST00000343070.2 + 5 1029 c.853C>T c.(853-855)Cct>Tct p.P285S SCNN1B_ENST00000307331.5_Missense_Mutation_p.P330S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P285S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P258S NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 285 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) GAAGGCACTTCCTTCGGCCAA 0.498000 44 71 0 0 0.000147903 0 0 DACH1 1602 broad.mit.edu 37 13 72131253 72131253 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:72131253C>T ENST00000305425.4 - 6 1901 c.1479G>A c.(1477-1479)ctG>ctA p.L493L DACH1_ENST00000359684.2_Silent_p.L545L|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 543 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ATAAGCCCATCAGCATCTGGT 0.428000 7 25 0 0 0.000157383 0 0 MPPED2 744 broad.mit.edu 37 11 30557687 30557687 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:30557687G>A ENST00000448418.2 - 3 524 c.164C>T c.(163-165)gCg>gTg p.A55V MPPED2_ENST00000358117.5_Missense_Mutation_p.A55V NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 55 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 CGTGTGGCCCGCTGGTTTTGG 0.483000 9 27 0 0 3.86212e-05 0 0 NLRP12 91662 broad.mit.edu 37 19 54314534 54314534 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:54314534C>T ENST00000324134.6 - 3 547 c.379G>A c.(379-381)Gaa>Aaa p.E127K NLRP12_ENST00000354278.3_Missense_Mutation_p.E127K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E127K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E127K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E127K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E127K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E127K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E127K NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 127 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.E127K(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGTAGGTTTCCTGGGGATCT 0.542000 13 77 0 0 0.000308642 0 0 DIDO1 11083 broad.mit.edu 37 20 61512857 61512857 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:61512857T>G ENST00000266070.4 - 16 4776 c.4451A>C c.(4450-4452)aAa>aCa p.K1484T DIDO1_ENST00000395343.1_Missense_Mutation_p.K1484T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1484 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTCGATCTGTTTGTTCAGCTC 0.627000 24 117 0 0 0.000375601 0 0 BNC2 54796 broad.mit.edu 37 9 16419500 16419500 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:16419500G>A ENST00000380672.4 - 7 2844 c.2787C>T c.(2785-2787)ctC>ctT p.L929L BNC2_ENST00000545497.1_Silent_p.L834L|BNC2_ENST00000380667.2_Silent_p.L862L NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 929 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CCCTGACATCGAGCCCCATGG 0.577000 21 77 0 0 0.000229342 0 0 NLRP8 126205 broad.mit.edu 37 19 56459380 56459380 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:56459380G>A ENST00000291971.3 + 1 183 c.112G>A c.(112-114)Gaa>Aaa p.E38K NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 38 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCCCCATGTGAAAATGGGGT 0.527000 23 38 0 0 0.000229342 0 0 ATF6B 1388 broad.mit.edu 37 6 32083517 32083517 + Nonstop_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:32083517C>A ENST00000375201.4 - 18 2147 c.2102G>T c.(2101-2103)tGa>tTa p.*701L ATF6B_ENST00000375203.3_Nonstop_Mutation_p.*704L Q99941 ATF6B_HUMAN activating transcription factor 6 beta 0 response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 22 TGGCAGAGGTCAGGGATGATT 0.617000 46 224 9.82405e-12 2.0656e-10 0.000147903 1 0 LURAP1L 286343 broad.mit.edu 37 9 12821469 12821469 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:12821469G>A ENST00000319264.3 + 2 1092 c.397G>A c.(397-399)Gaa>Aaa p.E133K NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 136 GTGGATGATCGAAGAAAAAGC 0.517000 39 42 0 0 0.000191422 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873285 173873285 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:173873285C>T ENST00000506823.1 + 10 1904 c.1247C>T c.(1246-1248)tCt>tTt p.S416F GALNTL6_ENST00000508122.1_Missense_Mutation_p.S399F NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 416 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 GGGGACATCTCTGCCCAGAAG 0.567000 5 31 0 0 3.59834e-05 0 0 IKBKB 3551 broad.mit.edu 37 8 42178259 42178259 + Missense_Mutation SNP G G A rs147186110 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:42178259G>A ENST00000520810.1 + 16 1771 c.1585G>A c.(1585-1587)Gaa>Aaa p.E529K IKBKB_ENST00000416505.2_Missense_Mutation_p.E470K|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.E306K|IKBKB_ENST00000520835.1_Missense_Mutation_p.E527K NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 529 anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTAGGAGAACGAAGTGAAACT 0.567000 48 69 0 0 0.000147903 0 0 CPT1C 126129 broad.mit.edu 37 19 50208012 50208012 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:50208012C>T ENST00000392518.4 + 8 1111 c.739C>T c.(739-741)Ccg>Tcg p.P247S CPT1C_ENST00000598293.1_Missense_Mutation_p.P247S|CPT1C_ENST00000354199.5_Missense_Mutation_p.P247S|CPT1C_ENST00000405931.2_Missense_Mutation_p.P247S|CPT1C_ENST00000323446.5_Missense_Mutation_p.P247S NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 247 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CTCCCGAAATCCGCTGATGGT 0.607000 9 33 0 0 6.40141e-05 0 0 CUZD1 50624 broad.mit.edu 37 10 124593240 124593240 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:124593240G>A ENST00000368904.1 - 10 2548 c.1599C>T c.(1597-1599)tcC>tcT p.S533S CUZD1_ENST00000545804.1_Silent_p.S533S|CUZD1_ENST00000392790.1_Silent_p.S533S Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 533 cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) GTCCTATGATGGAATCTGTTT 0.408000 46 79 0 0 0.000147903 0 0 PRDM9 56979 broad.mit.edu 37 5 23522412 23522412 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:23522412G>A ENST00000296682.3 + 7 690 c.e7-1 NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTCCAACCTAGAACTCAGGAA 0.428000 HNSCC(3;0.000094) 25 118 0 0 0.000117367 0 0 DNMT3B 1789 broad.mit.edu 37 20 31394046 31394046 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:31394046C>T ENST00000328111.2 + 22 2654 c.2333C>T c.(2332-2334)tCg>tTg p.S778L DNMT3B_ENST00000201963.3_Missense_Mutation_p.S770L|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S758L|DNMT3B_ENST00000344505.4_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 778 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACCACCAAGTCGAACTCGATC 0.448000 13 49 0 0 0.000219431 0 0 SI 6476 broad.mit.edu 37 3 164709985 164709985 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:164709985G>A ENST00000264382.3 - 43 5025 c.4963C>T c.(4963-4965)Cgg>Tgg p.R1655W NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1655 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCAAACCACCGAGCATTGGGG 0.343000 HNSCC(35;0.089) 8 64 0 0 0.00010058 0 0 SYCP2 10388 broad.mit.edu 37 20 58441356 58441356 + Nonsense_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:58441356C>A ENST00000357552.3 - 41 4537 c.4312G>T c.(4312-4314)Gaa>Taa p.E1438* SYCP2_ENST00000371001.2_Nonsense_Mutation_p.E1438* Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1438 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACCACAAATTCCTTTTCCAAA 0.264000 21 38 5.35356e-11 1.12447e-09 0.000375601 1 0 PRR23C 389152 broad.mit.edu 37 3 138763116 138763116 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:138763116C>T ENST00000413199.1 - 1 618 c.347G>A c.(346-348)gGc>gAc p.G116D MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.G116D NM_001134657.1 NP_001128129.1 Q6ZRP0 PR23C_HUMAN proline rich 23C 116 breast(2)|lung(7)|skin(2) 11 AGACCAGTCGCCCTGCGCTCC 0.632000 4 4 0 0 3.59834e-05 0 0 GLRA1 2741 broad.mit.edu 37 5 151235895 151235895 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:151235895C>T ENST00000274576.4 - 5 818 c.526G>A c.(526-528)Gat>Aat p.D176N GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.D93N|GLRA1_ENST00000455880.2_Missense_Mutation_p.D176N NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 176 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTCTGGACATCCATGGGGAAA 0.488000 20 53 0 0 0.000375601 0 0 PRKAA2 5563 broad.mit.edu 37 1 57161680 57161680 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:57161680C>T ENST00000371244.4 + 6 702 c.636C>T c.(634-636)ctC>ctT p.L212L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 212 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GTGGCACCCTCCCATTTGATG 0.423000 38 270 0 0 0.000132358 0 0 DDHD1 80821 broad.mit.edu 37 14 53539401 53539401 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:53539401G>T ENST00000357758.3 - 6 1600 c.1417C>A c.(1417-1419)Cct>Act p.P473T DDHD1_ENST00000395606.1_Missense_Mutation_p.P480T|DDHD1_ENST00000323669.5_Missense_Mutation_p.P473T NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 473 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) ACTTTGTCAGGAGTAATGGAA 0.333000 23 26 4.7796e-09 1.00081e-07 9.22233e-05 1 0 ASNS 440 broad.mit.edu 37 7 97487649 97487649 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:97487649G>A ENST00000175506.4 - 8 1372 c.844C>T c.(844-846)Cct>Tct p.P282S ASNS_ENST00000437628.1_Missense_Mutation_p.P199S|ASNS_ENST00000422745.1_Missense_Mutation_p.P261S|ASNS_ENST00000444334.1_Missense_Mutation_p.P261S|ASNS_ENST00000394309.3_Missense_Mutation_p.P282S|ASNS_ENST00000455086.1_Missense_Mutation_p.P199S|ASNS_ENST00000394308.3_Missense_Mutation_p.P282S NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 282 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCTGGAGAGGATACTGTACT 0.493000 10 40 0 0 3.86212e-05 0 0 OR1L8 138881 broad.mit.edu 37 9 125329898 125329898 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:125329898G>A ENST00000304865.2 - 1 940 c.859C>T c.(859-861)Cct>Tct p.P287S NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P287T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TAGATAAAAGGATTGAGCATG 0.458000 29 96 0 0 0.000491102 0 0 CORO7 79585 broad.mit.edu 37 16 4408059 4408059 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:4408059A>T ENST00000251166.4 - 25 2648 c.2503T>A c.(2503-2505)Tgg>Agg p.W835R CORO7_ENST00000574025.1_Missense_Mutation_p.W750R|CORO7_ENST00000537233.2_Missense_Mutation_p.W817R|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000539968.1_Missense_Mutation_p.W615R|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.W835R NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 ACAGGCTCCCAGATCACAGCC 0.617000 12 16 0 0 0.00010058 0 0 OR56B1 387748 broad.mit.edu 37 11 5758241 5758241 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:5758241C>T ENST00000317121.3 + 1 561 c.495C>T c.(493-495)gtC>gtT p.V165V TRIM5_ENST00000380027.1_Intron NM_001005180.2 NP_001005180.1 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GCTTATTTGTCACTCCAGTGC 0.463000 6 35 0 0 0.000157383 0 0 TONSL 4796 broad.mit.edu 37 8 145659433 145659433 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:145659433G>A ENST00000409379.3 - 21 3344 c.3315C>T c.(3313-3315)ctC>ctT p.L1105L NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1105 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GATTGGAGGAGAGGTCAAGGA 0.677000 15 28 0 0 5.01169e-05 0 0 MKRN3 7681 broad.mit.edu 37 15 23812282 23812282 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:23812282G>A ENST00000314520.3 + 1 1829 c.1353G>A c.(1351-1353)atG>atA p.M451I MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568945.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 451 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CTGTGCGAATGGGAGAGGGCA 0.522000 6 62 0 0 3.59834e-05 0 0 APOB 338 broad.mit.edu 37 2 21235361 21235361 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:21235361G>A ENST00000233242.1 - 26 4506 c.4379C>T c.(4378-4380)tCc>tTc p.S1460F NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1460 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) TGGTCCCCAGGAACTAGATGC 0.388000 100 231 0 0 0.000147903 0 0 BPIFB6 128859 broad.mit.edu 37 20 31620830 31620830 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:31620830G>A ENST00000349552.1 + 2 138 c.138G>A c.(136-138)aaG>aaA p.K46K NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 46 extracellular region lipid binding TCCTGGAGAAGATGGCAGCCG 0.557000 15 57 0 0 0.000422831 0 0 CDH17 1015 broad.mit.edu 37 8 95201472 95201472 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:95201472C>T ENST00000027335.3 - 3 217 c.93G>A c.(91-93)ctG>ctA p.L31L CDH17_ENST00000450165.2_Silent_p.L31L|CDH17_ENST00000441892.2_Silent_p.L31L NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 31 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCATGGGTTTCAGGGGTCCAC 0.393000 26 102 0 0 8.91981e-05 0 0 TM6SF1 53346 broad.mit.edu 37 15 83781551 83781551 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:83781551C>T ENST00000322019.9 + 2 369 c.95C>T c.(94-96)tCc>tTc p.S32F TM6SF1_ENST00000379390.6_Missense_Mutation_p.S32F|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S32F|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S32F Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 32 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 CGTTGCAGTTCCTGGACTATT 0.502000 21 67 0 0 0.000229342 0 0 MUC17 140453 broad.mit.edu 37 7 100681346 100681346 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:100681346G>A ENST00000306151.4 + 3 6713 c.6649G>A c.(6649-6651)Gaa>Aaa p.E2217K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2217 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTAGTGAAGGAAGCAC 0.507000 49 225 0 0 0.000147903 0 0 ZNF195 7748 broad.mit.edu 37 11 3381470 3381470 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:3381470G>A ENST00000354599.6 - 4 656 c.552C>T c.(550-552)ctC>ctT p.L184L ZNF195_ENST00000343338.7_Silent_p.L188L|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Silent_p.L188L|ZNF195_ENST00000399602.4_Silent_p.L256L|ZNF195_ENST00000005082.9_Silent_p.L233L|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.L237L NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 256 Spacer. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) TTAGGAATGAGAGCATTTGAA 0.328000 6 43 0 0 0.000274275 0 0 FRAS1 80144 broad.mit.edu 37 4 79385217 79385217 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:79385217G>A ENST00000264895.6 + 48 7246 c.6806G>A c.(6805-6807)cGa>cAa p.R2269Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2268 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTGACTTCACGAAATGTTCAG 0.413000 12 42 0 0 0.000308642 0 0 CERS3 204219 broad.mit.edu 37 15 100942940 100942940 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:100942940G>A ENST00000284382.4 - 13 1553 c.1130C>T c.(1129-1131)cCc>cTc p.P377L RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000538112.2_Missense_Mutation_p.P377L|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000394113.1_Missense_Mutation_p.P377L NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 377 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CTGGCCATTGGGAATGAGGTG 0.537000 13 38 0 0 0.000219431 0 0 CCDC68 80323 broad.mit.edu 37 18 52609926 52609926 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:52609926C>T ENST00000591504.1 - 3 371 c.97G>A c.(97-99)Gaa>Aaa p.E33K CCDC68_ENST00000432185.1_Missense_Mutation_p.E33K|CCDC68_ENST00000337363.4_Missense_Mutation_p.E33K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 33 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TACTCGGTTTCTTCAATAATG 0.388000 5 29 0 0 1.23904e-05 0 0 KNG1 3827 broad.mit.edu 37 3 186445073 186445073 + Silent SNP G G A rs142183659 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:186445073G>A ENST00000265023.4 + 5 824 c.612G>A c.(610-612)acG>acA p.T204T KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.T204T NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 204 Cystatin 2. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TTGTGCAAACGAATTGTTCCA 0.348000 21 118 0 0 0.000295444 0 0 OPLAH 26873 broad.mit.edu 37 8 145114770 145114770 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:145114770C>T ENST00000426825.1 - 2 247 c.166G>A c.(166-168)Gag>Aag p.E56K OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 56 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CCCACCTGCTCCAGGATGCGG 0.697000 5 47 0 0 8.12818e-05 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150569890 150569890 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:150569890C>T ENST00000361131.4 + 4 549 c.432C>T c.(430-432)atC>atT p.I144I NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 144 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) AGGAATTTATCAAAGAGCTGC 0.388000 9 33 0 0 0.000274275 0 0 TRPV6 55503 broad.mit.edu 37 7 142569526 142569526 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:142569526C>T ENST00000359396.3 - 15 2357 c.2112G>A c.(2110-2112)agG>agA p.R704R NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 704 Interaction with calmodulin. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GCAGGTCTCTCCTCAGGGTCC 0.577000 14 80 0 0 0.000219431 0 0 ALB 213 broad.mit.edu 37 4 74277830 74277830 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:74277830T>G ENST00000295897.4 + 7 920 c.831T>G c.(829-831)tgT>tgG p.C277W ALB_ENST00000415165.2_Missense_Mutation_p.C85W|ALB_ENST00000509063.1_Missense_Mutation_p.C277W|ALB_ENST00000503124.1_Missense_Mutation_p.C127W|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.C162W NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 277 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TGCTTGAATGTGCTGATGACA 0.453000 16 85 0 0 5.01169e-05 0 0 PDGFRB 5159 broad.mit.edu 37 5 149513489 149513489 + Missense_Mutation SNP G G C rs41287114 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:149513489G>C ENST00000261799.4 - 5 1183 c.714C>G c.(712-714)atC>atG p.I238M NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 238 Ig-like C2-type 3. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCTCATTCCCGATCACAATGC 0.562000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 7 52 0 0 0.000274275 0 0 TRIM48 79097 broad.mit.edu 37 11 55036750 55036750 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:55036750C>T ENST00000417545.2 + 5 697 c.611C>T c.(610-612)cCt>cTt p.P204L NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 188 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ATGCCCCAGCCTCTGAATCTA 0.507000 14 9 0 0 0.000308642 0 0 GRB7 2886 broad.mit.edu 37 17 37899512 37899512 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:37899512C>T ENST00000309156.4 + 5 800 c.543C>T c.(541-543)ttC>ttT p.F181F GRB7_ENST00000445327.2_Silent_p.F204F|GRB7_ENST00000309185.3_Silent_p.F181F|GRB7_ENST00000394209.2_Silent_p.F181F|GRB7_ENST00000394211.3_Silent_p.F181F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Silent_p.F181F NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 181 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCTTCGTCTTCCGGAAAAACT 0.607000 9 45 0 0 0.000274275 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988846 154988846 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:154988846C>T ENST00000368426.3 + 4 1442 c.1305C>T c.(1303-1305)tgC>tgT p.C435C ZBTB7B_ENST00000535420.1_Silent_p.C435C|ZBTB7B_ENST00000292176.2_Silent_p.C435C|ZBTB7B_ENST00000417934.2_Silent_p.C469C NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 435 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCACCTGTGCCACAAGGCTT 0.647000 8 14 0 0 0.000157383 0 0 TM4SF4 7104 broad.mit.edu 37 3 149192792 149192792 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:149192792C>T ENST00000305354.4 + 1 1032 c.128C>T c.(127-129)tCc>tTc p.S43F NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 43 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GACCACCTTTCCCAAGAGATC 0.473000 5 48 0 0 0.000157383 0 0 NR1D2 9975 broad.mit.edu 37 3 24003915 24003915 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:24003915T>C ENST00000312521.4 + 5 1284 c.965T>C c.(964-966)tTc>tCc p.F322S NR1D2_ENST00000492552.1_3'UTR NM_001145425.1|NM_005126.4 NP_001138897.1|NP_005117.3 Q14995 NR1D2_HUMAN nuclear receptor subfamily 1, group D, member 2 322 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 22 AATGGACAGTTCAAAGGGAGG 0.393000 12 32 0 0 0.000308642 0 0 ATP2C1 27032 broad.mit.edu 37 3 130715608 130715608 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:130715608C>T ENST00000510168.1 + 24 2761 c.2211C>T c.(2209-2211)atC>atT p.I737I ATP2C1_ENST00000513801.1_Silent_p.I721I|ATP2C1_ENST00000422190.2_Silent_p.I737I|ATP2C1_ENST00000505330.1_Silent_p.I721I|ATP2C1_ENST00000359644.3_Silent_p.I737I|ATP2C1_ENST00000508532.1_Silent_p.I737I|ATP2C1_ENST00000393221.4_Silent_p.I771I|ATP2C1_ENST00000533801.2_Silent_p.I732I|ATP2C1_ENST00000507488.2_Silent_p.I721I|ATP2C1_ENST00000504948.1_Silent_p.I721I|ATP2C1_ENST00000328560.8_Silent_p.I737I|ATP2C1_ENST00000504381.1_Silent_p.I682I|ATP2C1_ENST00000428331.2_Silent_p.I737I P98194 AT2C1_HUMAN ATPase, Ca++ transporting, type 2C, member 1 737 actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1) 39 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TTTTGTGGATCAATATTATTA 0.368000 Hailey-Hailey disease 17 98 0 0 0.000422831 0 0 PSD4 23550 broad.mit.edu 37 2 113942615 113942615 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:113942615G>A ENST00000245796.6 + 3 1333 c.1138G>A c.(1138-1140)Gat>Aat p.D380N PSD4_ENST00000441564.2_Missense_Mutation_p.D380N NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 380 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 tgtcggatctgatcttggccc 0.537000 25 55 0 0 0.00047179 0 0 ULK4 54986 broad.mit.edu 37 3 41961305 41961305 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:41961305G>A ENST00000301831.4 - 6 1009 c.547C>T c.(547-549)Cct>Tct p.P183S ULK4_ENST00000420927.1_Missense_Mutation_p.P183S NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 183 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) GTATATACAGGAGATCCTAAA 0.443000 24 44 0 0 0.00047179 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766705 77766705 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:77766705C>T ENST00000521891.2 + 10 7996 c.7548C>T c.(7546-7548)ttC>ttT p.F2516F ZFHX4_ENST00000518282.1_Silent_p.F2490F|ZFHX4_ENST00000455469.2_Silent_p.F2471F|ZFHX4_ENST00000050961.6_Silent_p.F2471F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2471 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) ACATGCACTTCCTTGCTGCTC 0.483000 HNSCC(33;0.089) 14 221 0 0 5.01169e-05 0 0 PITPNM2 57605 broad.mit.edu 37 12 123497242 123497242 + Silent SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:123497242A>T ENST00000280562.5 - 4 538 c.333T>A c.(331-333)atT>atA p.I111I PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Silent_p.I111I|PITPNM2_ENST00000546049.1_Silent_p.I111I|PITPNM2_ENST00000542749.1_Silent_p.I111I|PITPNM2_ENST00000392428.1_Intron Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 111 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AAAAGGTTTCAATGTCGATGG 0.502000 73 59 0 0 0.000147903 0 0 STK11 6794 broad.mit.edu 37 19 1218458 1218458 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:1218458C>T ENST00000326873.7 + 2 1506 c.333C>T c.(331-333)atC>atT p.I111I STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 111 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) AAAATGTCATCCAGCTGGTGG 0.557000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 53 116 0 0 0.000147903 0 0 GPR142 350383 broad.mit.edu 37 17 72368703 72368703 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:72368703G>A ENST00000335666.4 + 4 1401 c.1353G>A c.(1351-1353)atG>atA p.M451I NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 451 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 AGCCTGTGATGGAGCCTCCGG 0.632000 14 17 0 0 0.000422831 0 0 ALPK1 80216 broad.mit.edu 37 4 113353542 113353542 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:113353542C>T ENST00000458497.1 + 11 3118 c.2839C>T c.(2839-2841)Cct>Tct p.P947S ALPK1_ENST00000504176.2_Missense_Mutation_p.P869S|ALPK1_ENST00000177648.9_Missense_Mutation_p.P947S NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 947 Ser-rich. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GGGGGACAGCCCTTGGTCCTA 0.512000 11 33 0 0 3.86212e-05 0 0 PREX2 80243 broad.mit.edu 37 8 68992729 68992729 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:68992729C>T ENST00000288368.4 + 16 1971 c.1694C>T c.(1693-1695)tCg>tTg p.S565L PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 565 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.S565L(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CGTTTTTTTTCGGATGAGGAA 0.323000 10 123 0 0 0.00010058 0 0 NRP1 8829 broad.mit.edu 37 10 33510678 33510678 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:33510678C>T ENST00000265371.4 - 9 1776 c.1251G>A c.(1249-1251)atG>atA p.M417I NRP1_ENST00000395995.1_Missense_Mutation_p.M417I|NRP1_ENST00000374816.3_Missense_Mutation_p.M417I|NRP1_ENST00000374821.5_Missense_Mutation_p.M417I|NRP1_ENST00000374822.4_Missense_Mutation_p.M417I|NRP1_ENST00000374823.5_Missense_Mutation_p.M417I|NRP1_ENST00000374867.2_Missense_Mutation_p.M417I O14786 NRP1_HUMAN neuropilin 1 417 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CTTCAAATCTCATAGATATGC 0.418000 35 73 0 0 0.000191422 0 0 LILRA2 11027 broad.mit.edu 37 19 55086779 55086779 + Missense_Mutation SNP G G A rs139468214 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:55086779G>A ENST00000251377.3 + 6 845 c.712G>A c.(712-714)Gag>Aag p.E238K LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.E238K|LILRA2_ENST00000391737.1_Missense_Mutation_p.E226K|LILRA2_ENST00000391738.3_Missense_Mutation_p.E238K|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GGCCCCCGGGGAGAGCCTGAC 0.572000 14 69 0 0 9.7654e-05 0 0 CREB5 9586 broad.mit.edu 37 7 28534569 28534569 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:28534569G>A ENST00000357727.2 + 3 511 c.121G>A c.(121-123)Gaa>Aaa p.E41K CREB5_ENST00000409603.1_Missense_Mutation_p.E8K|CREB5_ENST00000396300.2_Missense_Mutation_p.E34K|CREB5_ENST00000396299.2_Missense_Mutation_p.E8K NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 41 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GCACAAACATGAAATGACTTT 0.413000 153 277 0 0 0.000147903 0 0 NLRC4 58484 broad.mit.edu 37 2 32476336 32476336 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:32476336G>A ENST00000404025.2 - 5 1085 c.597C>T c.(595-597)ttC>ttT p.F199F NLRC4_ENST00000402280.1_Silent_p.F199F|NLRC4_ENST00000360906.5_Silent_p.F199F|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 199 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGAAGAAGACGAATTTGAACT 0.517000 16 36 0 0 0.000422831 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94670672 94670672 + Silent SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:94670672A>C ENST00000260526.6 - 7 824 c.642T>G c.(640-642)acT>acG p.T214T ARHGAP29_ENST00000370217.3_Silent_p.T214T NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 214 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) ATTTTGACCAAGTTTTAGCAT 0.328000 13 88 0 0 0.000219431 0 0 MAN1A1 4121 broad.mit.edu 37 6 119611861 119611861 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:119611861A>C ENST00000368468.3 - 5 1325 c.884T>G c.(883-885)cTg>cGg p.L295R MAN1A1_ENST00000368466.2_Missense_Mutation_p.L318R NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 295 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TTCTCCAGACAGATAGTAGGC 0.308000 14 43 0 0 9.7654e-05 0 0 KIAA1549 57670 broad.mit.edu 37 7 138596002 138596002 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:138596002G>A ENST00000440172.1 - 4 3083 c.3035C>T c.(3034-3036)tCc>tTc p.S1012F KIAA1549_ENST00000422774.1_Missense_Mutation_p.S1012F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S962F NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1012 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 ATTTATGACGGATATTGCCGT 0.398000 O BRAF pilocytic astrocytoma 21 15 0 0 0.000375601 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870393 51870393 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:51870393C>T ENST00000371497.5 + 2 1283 c.396C>T c.(394-396)atC>atT p.I132I TSHZ2_ENST00000603338.2_Silent_p.I129I|TSHZ2_ENST00000329613.6_Silent_p.I129I NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 132 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACGCCAACATCCTGTCGGATT 0.522000 7 62 0 0 0.000157383 0 0 SCN11A 11280 broad.mit.edu 37 3 38889195 38889195 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:38889195G>A ENST00000302328.3 - 26 4564 c.4366C>T c.(4366-4368)Cct>Tct p.P1456S SCN11A_ENST00000450244.1_Missense_Mutation_p.P1456S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P1418S NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1456 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGAGGGAAAGGAATGTGCTCC 0.502000 10 10 0 0 3.86212e-05 0 0 SENP7 57337 broad.mit.edu 37 3 101212726 101212726 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:101212726G>A ENST00000394095.2 - 3 230 c.177C>T c.(175-177)ctC>ctT p.L59L SENP7_ENST00000314261.7_Silent_p.L59L|SENP7_ENST00000394091.1_Silent_p.L26L|SENP7_ENST00000348610.3_Silent_p.L26L|SENP7_ENST00000358203.3_Silent_p.L26L|SENP7_ENST00000394094.2_Silent_p.L59L NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 59 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCTGCAAAGGGAGAGTCCAGC 0.303000 28 82 0 0 0.000339439 0 0 BAZ2A 11176 broad.mit.edu 37 12 56997418 56997418 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:56997418G>A ENST00000179765.5 - 18 3214 c.3015C>T c.(3013-3015)tgC>tgT p.C1005C BAZ2A_ENST00000379441.3_Silent_p.C1007C|BAZ2A_ENST00000551812.1_Silent_p.C1037C|BAZ2A_ENST00000549884.1_Silent_p.C1035C Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1037 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TCCGTCCCAGGCATTCCTCTG 0.552000 16 74 0 0 7.07596e-05 0 0 USH1C 10083 broad.mit.edu 37 11 17517217 17517217 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:17517217G>C ENST00000005226.7 - 26 2553 c.2554C>G c.(2554-2556)Ctt>Gtt p.L852V USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 0 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 GAGGAGGGAAGAGAAGCTCTA 0.572000 15 78 0 0 0.000422831 0 0 CPXM2 119587 broad.mit.edu 37 10 125521563 125521563 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:125521563C>T ENST00000241305.3 - 11 1756 c.1602G>A c.(1600-1602)tgG>tgA p.W534* CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 534 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCTGCGTCTTCCAGGGGGACC 0.642000 15 34 0 0 0.000308642 0 0 CD1E 913 broad.mit.edu 37 1 158325625 158325625 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:158325625G>A ENST00000444681.2 + 3 630 c.337G>A c.(337-339)Gag>Aag p.E113K CD1E_ENST00000368166.3_Missense_Mutation_p.E23K|CD1E_ENST00000368155.3_Missense_Mutation_p.E122K|CD1E_ENST00000452291.2_Missense_Mutation_p.E23K|CD1E_ENST00000368163.3_Missense_Mutation_p.E212K|CD1E_ENST00000368160.3_Missense_Mutation_p.E212K|CD1E_ENST00000368164.3_Missense_Mutation_p.E23K|CD1E_ENST00000368154.1_Missense_Mutation_p.E23K|CD1E_ENST00000368167.3_Missense_Mutation_p.E212K|CD1E_ENST00000368157.1_Missense_Mutation_p.E23K|CD1E_ENST00000368156.1_Missense_Mutation_p.E122K|CD1E_ENST00000368161.3_Missense_Mutation_p.E212K|CD1E_ENST00000434258.1_Missense_Mutation_p.E210K|CD1E_ENST00000368165.3_Missense_Mutation_p.E122K NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 212 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGTGAAGCCAGAGGCCTGGCT 0.522000 7 10 0 0 0.000274275 0 0 SPN 6693 broad.mit.edu 37 16 29675698 29675698 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:29675698G>A ENST00000360121.3 + 2 741 c.649G>A c.(649-651)Ggg>Agg p.G217R AC009133.19_ENST00000449759.1_Intron|SPN_ENST00000395389.2_Missense_Mutation_p.G217R NM_001030288.2|NM_003123.4 NP_001025459.1|NP_003114.1 P16150 LEUK_HUMAN sialophorin 217 blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1) 15 GCCCTCCAGCGGGGCCAGTGG 0.577000 33 45 0 0 0.000109025 0 0 GPR112 139378 broad.mit.edu 37 X 135480047 135480047 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:135480047C>T ENST00000394143.1 + 20 8483 c.8192C>T c.(8191-8193)tCc>tTc p.S2731F GPR112_ENST00000412101.1_Missense_Mutation_p.S2526F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2526F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2731F|GPR112_ENST00000287534.4_Missense_Mutation_p.S2484F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2731 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TAGGATTTATCCAGGTCTACA 0.418000 22 45 0 0 7.16444e-05 0 0 MEOX1 4222 broad.mit.edu 37 17 41719371 41719371 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:41719371C>T ENST00000318579.4 - 3 1091 c.672G>A c.(670-672)atG>atA p.M224I MEOX1_ENST00000393661.2_Missense_Mutation_p.M109I|MEOX1_ENST00000549132.1_Missense_Mutation_p.M137I|MEOX1_ENST00000329168.3_Missense_Mutation_p.E167K NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 224 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GCTTCCACTTCATCCTTCGGT 0.582000 20 90 0 0 0.00047179 0 0 BSND 7809 broad.mit.edu 37 1 55473941 55473941 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:55473941G>A ENST00000371265.4 + 4 857 c.603G>A c.(601-603)ctG>ctA p.L201L NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 201 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 AAGATGACCTGGACATGGACT 0.607000 4 37 0 0 3.59834e-05 0 0 SSFA2 6744 broad.mit.edu 37 2 182780931 182780931 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:182780931A>G ENST00000431877.2 + 11 2743 c.2564A>G c.(2563-2565)gAa>gGa p.E855G SSFA2_ENST00000320370.7_Missense_Mutation_p.E855G|SSFA2_ENST00000428267.2_Missense_Mutation_p.E702G|SSFA2_ENST00000409001.1_Missense_Mutation_p.E855G|SSFA2_ENST00000409136.1_Missense_Mutation_p.E364G NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 855 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GAGTGGCAAGAAAGGCCCCTG 0.527000 14 35 0 0 0.000422831 0 0 FGD2 221472 broad.mit.edu 37 6 36976697 36976697 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:36976697G>A ENST00000274963.8 + 2 327 c.156G>A c.(154-156)cgG>cgA p.R52R NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 52 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CAGGACCACGGGAGAAGACGA 0.632000 9 26 0 0 0.000274275 0 0 GJC2 57165 broad.mit.edu 37 1 228346248 228346248 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:228346248A>C ENST00000366714.2 + 2 964 c.789A>C c.(787-789)gaA>gaC p.E263D NM_020435.3 NP_065168.2 Q5T442 CXG2_HUMAN gap junction protein, gamma 2, 47kDa 263 cell death connexon complex|integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Prostate(94;0.0405) GCCCTACTGAAAAGACGGTCT 0.637000 16 67 0 0 0.000132079 0 0 ADAM29 11086 broad.mit.edu 37 4 175897101 175897101 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:175897101C>T ENST00000359240.3 + 5 1095 c.425C>T c.(424-426)tCt>tTt p.S142F ADAM29_ENST00000404450.4_Missense_Mutation_p.S142F|ADAM29_ENST00000445694.1_Missense_Mutation_p.S142F|ADAM29_ENST00000514159.1_Missense_Mutation_p.S142F NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 142 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTAGCATTTTCTACCACGTTT 0.398000 10 21 0 0 3.86212e-05 0 0 SDE2 163859 broad.mit.edu 37 1 226178949 226178949 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:226178949G>A ENST00000272091.7 - 5 654 c.636C>T c.(634-636)tgC>tgT p.C212C SDE2_ENST00000366817.1_Silent_p.C117C NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) CTTACCAGAAGCATCTCCTCT 0.438000 14 52 0 0 5.01169e-05 0 0 DOCK3 1795 broad.mit.edu 37 3 51312577 51312577 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:51312577G>A ENST00000266037.9 + 25 2639 c.2616G>A c.(2614-2616)gaG>gaA p.E872E NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 872 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGCAGAAAGAGCTGCTAATTT 0.517000 66 129 0 0 0.000147903 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185936 127185936 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:127185936C>T ENST00000371124.3 - 1 446 c.250G>A c.(250-252)Gac>Aac p.D84N NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 84 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TTCTCCATGTCATCCCATCCT 0.493000 33 23 0 0 0.000191422 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49963009 49963009 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:49963009C>T ENST00000293350.4 + 4 566 c.403C>T c.(403-405)Cga>Tga p.R135* ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R135*|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000433981.2_5'UTR NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 135 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) TCGAGAGGTTCGAGACGGGGA 0.642000 11 29 0 0 3.86212e-05 0 0 XIST 7503 broad.mit.edu 37 X 73063860 73063860 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:73063860G>A ENST00000429829.1 - 0 8728 NR_001564.2 GAAGTGATAGGGTTGTGGACA 0.418000 6 15 0 0 3.59834e-05 0 0 BZRAP1 9256 broad.mit.edu 37 17 56400098 56400098 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:56400098C>T ENST00000355701.3 - 9 2104 c.1234G>A c.(1234-1236)Ggg>Agg p.G412R BZRAP1_ENST00000343736.4_Missense_Mutation_p.G412R|BZRAP1_ENST00000268893.6_Missense_Mutation_p.G352R NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 412 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGTGTCACCCCCAGGAGCTGG 0.647000 21 19 0 0 0.000375601 0 0 PAK3 5063 broad.mit.edu 37 X 110406200 110406200 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:110406200G>A ENST00000519681.1 + 10 1031 c.589G>A c.(589-591)Gaa>Aaa p.E197K PAK3_ENST00000360648.4_Missense_Mutation_p.E212K|PAK3_ENST00000417227.1_Missense_Mutation_p.E197K|PAK3_ENST00000262836.4_Missense_Mutation_p.E191K|PAK3_ENST00000446737.1_Missense_Mutation_p.E176K|PAK3_ENST00000372010.1_Missense_Mutation_p.E191K|PAK3_ENST00000518291.1_Missense_Mutation_p.E212K|PAK3_ENST00000425146.1_Missense_Mutation_p.E176K|PAK3_ENST00000372007.4_Missense_Mutation_p.E176K O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 191 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agaagaagatgaagaggaaga 0.408000 TSP Lung(19;0.15) 20 30 0 0 0.000132079 0 0 ZNF681 148213 broad.mit.edu 37 19 23927533 23927533 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:23927533T>C ENST00000402377.3 - 4 960 c.819A>G c.(817-819)acA>acG p.T273T ZNF681_ENST00000395385.3_Silent_p.T204T NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TATGAATTATTGTATGTGTTG 0.353000 21 102 0 0 0.000375601 0 0 UBE3C 9690 broad.mit.edu 37 7 156974866 156974866 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:156974866C>T ENST00000348165.5 + 8 1195 c.835C>T c.(835-837)Cat>Tat p.H279Y UBE3C_ENST00000389103.4_Missense_Mutation_p.H236Y NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 279 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TCAGATTTTTCATTTCATCAT 0.398000 39 109 0 0 0.000147903 0 0 CLGN 1047 broad.mit.edu 37 4 141334224 141334224 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:141334224G>A ENST00000325617.5 - 2 449 c.9C>T c.(7-9)ttC>ttT p.F3F CLGN_ENST00000537281.1_Silent_p.F3F|CLGN_ENST00000414773.1_Silent_p.F3F NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 3 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding p.F3F(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) AAAAGGCTTGGAAATGCATAT 0.284000 15 95 0 0 9.7654e-05 0 0 CHAD 1101 broad.mit.edu 37 17 48545637 48545637 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:48545637C>T ENST00000508540.1 - 1 690 c.538G>A c.(538-540)Gaa>Aaa p.E180K ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.E180K|ACSF2_ENST00000300441.4_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 180 regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AACGCGTTTTCCGACAGGTAG 0.617000 47 48 0 0 0.000147903 0 0 FLNC 2318 broad.mit.edu 37 7 128496603 128496603 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:128496603C>T ENST00000325888.8 + 44 7544 c.7283C>T c.(7282-7284)tCc>tTc p.S2428F RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2395F NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2428 Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CAGCCAGCGTCCTTTGCCGTG 0.652000 6 47 0 0 0.000274275 0 0 POLQ 10721 broad.mit.edu 37 3 121208690 121208690 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:121208690A>T ENST00000264233.5 - 16 3216 c.3088T>A c.(3088-3090)Ttc>Atc p.F1030I NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1030 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TCTGAATTGAAATTCAAAGGT 0.413000 DNA polymerases (catalytic subunits) 33 93 0 0 0.000409698 0 0 C6 729 broad.mit.edu 37 5 41149408 41149408 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:41149408G>A ENST00000263413.3 - 17 2822 c.2558C>T c.(2557-2559)tCa>tTa p.S853L C6_ENST00000337836.5_Missense_Mutation_p.S853L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 853 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCTGTTGGATGAAAGTCTTGT 0.423000 38 47 0 0 0.000159656 0 0 BECN1 8678 broad.mit.edu 37 17 40971575 40971575 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:40971575G>A ENST00000361523.4 - 4 383 c.251C>T c.(250-252)cCc>cTc p.P84L BECN1_ENST00000438274.3_Missense_Mutation_p.P84L|BECN1_ENST00000590099.1_Missense_Mutation_p.P84L NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 84 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CCTGGCTGGGGGGATGAATCT 0.488000 OREG0024429 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 31 0 0 0.000274275 0 0 ZNF792 126375 broad.mit.edu 37 19 35450222 35450222 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:35450222C>G ENST00000404801.1 - 4 923 c.537G>C c.(535-537)caG>caC p.Q179H ZNF792_ENST00000605484.1_Missense_Mutation_p.Q112H NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TCTGCTGCACCTGTTTCCGGG 0.517000 7 230 0 0 3.86212e-05 0 0 SCN1A 6323 broad.mit.edu 37 2 166848514 166848514 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:166848514C>T ENST00000423058.2 - 26 5288 c.5271G>A c.(5269-5271)ggG>ggA p.G1757G SCN1A_ENST00000409050.1_Silent_p.G1729G|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.G1757G|SCN1A_ENST00000375405.3_Silent_p.G1746G NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1757 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAGATGGGTTCCCACAGTCTC 0.468000 22 16 0 0 0.00047179 0 0 GRIK1 2897 broad.mit.edu 37 21 30925914 30925914 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:30925914T>C ENST00000399907.1 - 17 3130 c.2719A>G c.(2719-2721)Aga>Gga p.R907G GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.R909G|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.R892G|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389124.2_Intron NM_000830.3 NP_000821.1 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 907 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CGAATCCCTCTCTCCTCTCGA 0.358000 21 71 0 0 0.000175454 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95108095 95108095 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:95108095G>A ENST00000469935.1 + 0 700 NR_015340.1 GCCTGGGCGCGAGGGCCAACC 0.632000 11 46 0 0 0.00010058 0 0 GPD1L 23171 broad.mit.edu 37 3 32200591 32200591 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:32200591G>A ENST00000282541.5 + 6 1043 c.842G>A c.(841-843)aGa>aAa p.R281K NM_015141.3 NP_055956.1 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 281 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity large_intestine(4)|lung(7)|ovary(1) 12 GCCTTCGCCAGAACTGGGAAG 0.627000 8 23 0 0 0.000157383 0 0 CLNK 116449 broad.mit.edu 37 4 10515113 10515113 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:10515113G>A ENST00000226951.6 - 16 1120 c.881C>T c.(880-882)cCt>cTt p.P294L CLNK_ENST00000515667.1_Missense_Mutation_p.P32L NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 294 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 TTTGGGGAAAGGTGGTCTCCA 0.493000 6 28 0 0 0.000157383 0 0 GATA2 2624 broad.mit.edu 37 3 128205201 128205201 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:128205201G>A ENST00000341105.2 - 3 571 c.240C>T c.(238-240)acC>acT p.T80T GATA2_ENST00000430265.2_Silent_p.T80T|GATA2_ENST00000487848.1_Silent_p.T80T NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 80 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) TCTGGCCTCCGGTCAGGCGGG 0.647000 Mis AML(CML blast transformation) 4 13 0 0 8.12818e-05 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271219 26271219 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:26271219G>A ENST00000305910.3 - 1 393 c.394C>T c.(394-396)Cgt>Tgt p.R132C NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 132 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CTCTCCCCACGAATGCGGCGA 0.502000 9 77 0 0 0.000151284 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866589 106866589 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:106866589C>T ENST00000390618.2 - 0 242 CCTGGCGGATCCAGCTCATCT 0.582000 5 24 0 0 8.12818e-05 0 0 F7 2155 broad.mit.edu 37 13 113771173 113771173 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:113771173G>A ENST00000375581.3 + 7 700 c.665G>A c.(664-666)gGg>gAg p.G222E F7_ENST00000346342.3_Missense_Mutation_p.G200E|F7_ENST00000541084.1_Missense_Mutation_p.G153E NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 222 Peptidase S1. anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TGCCCCAAAGGGGAGTGTCCA 0.488000 12 44 0 0 0.000151284 0 0 UNC5D 137970 broad.mit.edu 37 8 35541129 35541129 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:35541129C>T ENST00000287272.2 + 5 655 c.635C>T c.(634-636)gCt>gTt p.A212V UNC5D_ENST00000416672.1_Missense_Mutation_p.A212V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A207V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A212V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A212V Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 212 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GACACCAGGGCTGACCATAAC 0.493000 7 71 0 0 0.000274275 0 0 DDX60L 91351 broad.mit.edu 37 4 169327209 169327209 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:169327209G>A ENST00000511577.1 - 24 3352 c.3105C>T c.(3103-3105)ttC>ttT p.F1035F DDX60L_ENST00000505890.1_Silent_p.F1035F|DDX60L_ENST00000260184.7_Silent_p.F1035F Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1035 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TAAAAAGAATGAATTCCTCTG 0.294000 6 27 0 0 0.000157383 0 0 TMTC1 83857 broad.mit.edu 37 12 29667498 29667498 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:29667498T>C ENST00000256062.5 - 16 2496 c.2023A>G c.(2023-2025)Aag>Gag p.K675E TMTC1_ENST00000539277.1_Missense_Mutation_p.K783E|TMTC1_ENST00000552618.1_Missense_Mutation_p.K807E|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.K845E NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 783 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TTTGGGTCCTTTGGTTTCAGC 0.358000 7 75 0 0 0.000274275 0 0 MYO15A 51168 broad.mit.edu 37 17 18051478 18051478 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:18051478G>A ENST00000205890.5 + 31 6983 c.6645G>A c.(6643-6645)gcG>gcA p.A2215A NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2215 MyTH4 1.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGTGGACAGCGACCTATGAGA 0.667000 14 13 0 0 0.000308642 0 0 ALPK1 80216 broad.mit.edu 37 4 113353543 113353543 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:113353543C>T ENST00000458497.1 + 11 3119 c.2840C>T c.(2839-2841)cCt>cTt p.P947L ALPK1_ENST00000504176.2_Missense_Mutation_p.P869L|ALPK1_ENST00000177648.9_Missense_Mutation_p.P947L NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 947 Ser-rich. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GGGGACAGCCCTTGGTCCTAT 0.507000 11 33 0 0 3.86212e-05 0 0 OR13C2 392376 broad.mit.edu 37 9 107367383 107367383 + Missense_Mutation SNP G G A rs149514294 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:107367383G>A ENST00000542196.1 - 1 568 c.526C>T c.(526-528)Cat>Tat p.H176Y NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H176Y(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CAGGTGAAATGATTGATGATG 0.443000 15 51 0 0 9.7654e-05 0 0 GPATCH3 63906 broad.mit.edu 37 1 27217608 27217608 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:27217608C>T ENST00000361720.5 - 7 1494 c.1471G>A c.(1471-1473)Gag>Aag p.E491K NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 491 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AGCAGTGACTCCGTCTGGTCT 0.567000 14 19 0 0 0.000422831 0 0 CREB3L1 90993 broad.mit.edu 37 11 46341862 46341862 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:46341862G>A ENST00000529193.1 + 11 1757 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K CREB3L1_ENST00000288400.3_Missense_Mutation_p.E436K Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 436 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) AGGCTTATGGGAAGATGGCCG 0.647000 T FUS myxofibrosarcoma 6 8 0 0 0.000274275 0 0 FRMD7 90167 broad.mit.edu 37 X 131228143 131228143 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:131228143C>T ENST00000298542.4 - 5 484 c.309G>A c.(307-309)aaG>aaA p.K103K FRMD7_ENST00000370879.1_5'UTR|FRMD7_ENST00000464296.1_Silent_p.K88K NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 103 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CCAAATCCTTCTTTATTTGAA 0.388000 16 49 0 0 7.07596e-05 0 0 FCRL1 115350 broad.mit.edu 37 1 157773804 157773804 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:157773804G>A ENST00000358292.3 - 3 201 c.150C>T c.(148-150)ttC>ttT p.F50F FCRL1_ENST00000491942.1_Silent_p.F50F|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Silent_p.F50F NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 50 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGCAGAACTGGAACTGGGCAT 0.567000 13 31 0 0 0.00010058 0 0 OR5K4 403278 broad.mit.edu 37 3 98073124 98073124 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:98073124C>T ENST00000354924.2 + 1 427 c.427C>T c.(427-429)Cgg>Tgg p.R143W RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 GCTCTGCATTCGGATGACCAC 0.478000 9 42 0 0 0.000442599 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4455280 4455280 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:4455280G>A ENST00000254718.4 - 8 1224 c.918C>T c.(916-918)ttC>ttT p.F306F MYBBP1A_ENST00000381556.2_Silent_p.F306F Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 306 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CCAGCAGGCGGAAACACAGGT 0.642000 19 53 0 0 0.000295444 0 0 DMBT1 1755 broad.mit.edu 37 10 124395566 124395566 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:124395566C>T ENST00000338354.3 + 50 6327 c.6221C>T c.(6220-6222)tCc>tTc p.S2074F DMBT1_ENST00000330163.4_Missense_Mutation_p.S1446F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2064F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S794F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1446F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2064F|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2074F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2074 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TACCGCAGTTCCCCTCTCATT 0.502000 13 49 0 0 0.000219431 0 0 VCAN 1462 broad.mit.edu 37 5 82815664 82815664 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:82815664C>T ENST00000265077.3 + 7 2104 c.1539C>T c.(1537-1539)ttC>ttT p.F513F VCAN_ENST00000512590.2_Silent_p.F465F|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.F513F NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 513 GAG-alpha (glucosaminoglycan attachment domain). 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) CCAAGGAATTCCCTGTAACTG 0.378000 20 65 0 0 0.000375601 0 0 LUZP2 338645 broad.mit.edu 37 11 24750756 24750756 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:24750756T>A ENST00000336930.6 + 2 170 c.104T>A c.(103-105)tTt>tAt p.F35Y LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR Q86TE4 LUZP2_HUMAN leucine zipper protein 2 35 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 AAAGAAGTCTTTAAGGAGCGA 0.433000 6 40 0 0 0.000157383 0 0 ZEB1 6935 broad.mit.edu 37 10 31803585 31803585 + Nonsense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:31803585A>T ENST00000446923.2 + 6 1082 c.691A>T c.(691-693)Aaa>Taa p.K231* ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.K248*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.K247*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.K180*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.K227* NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 247 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) TGAGTGTGGAAAAGCTTTCAA 0.328000 15 51 0 0 9.7654e-05 0 0 KCNB2 9312 broad.mit.edu 37 8 73849053 73849053 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:73849053C>T ENST00000523207.1 + 3 2051 c.1463C>T c.(1462-1464)tCg>tTg p.S488L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 488 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AATCACCTGTCGCCAAGCCGG 0.527000 25 163 0 0 0.00047179 0 0 CCDC158 339965 broad.mit.edu 37 4 77253640 77253640 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:77253640C>T ENST00000388914.3 - 19 2967 c.2815G>A c.(2815-2817)Gat>Aat p.D939N NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 939 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CTTACCCTATCCTCTCTGTAT 0.308000 27 38 0 0 0.000409698 0 0 IGHV3-64 28414 broad.mit.edu 37 14 107113761 107113761 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:107113761C>T ENST00000454421.2 - 0 410 TAATACACAGCCATGTCCTCA 0.512000 8 73 0 0 0.000442599 0 0 TTK 7272 broad.mit.edu 37 6 80744798 80744798 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:80744798G>A ENST00000509894.1 + 15 2537 c.1708G>A c.(1708-1710)Gaa>Aaa p.E570K TTK_ENST00000230510.3_Missense_Mutation_p.E570K|TTK_ENST00000369798.2_Missense_Mutation_p.E571K P33981 TTK_HUMAN TTK protein kinase 571 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E555K(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTACCGGAACGAAATAGCTTA 0.284000 25 62 0 0 9.22233e-05 0 0 TBC1D5 9779 broad.mit.edu 37 3 17349625 17349625 + Splice_Site SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:17349625T>C ENST00000253692.7 - 14 2661 c.995_splice c.e14-1 p.R333_splice TBC1D5_ENST00000429383.4_Splice_Site_p.R333_splice|TBC1D5_ENST00000446818.2_Splice_Site_p.R333_splice|TBC1D5_ENST00000429924.2_Splice_Site_p.R285_splice|TBC1D5_ENST00000414318.2_5'UTR NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 333 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 CGCACCCACCTTCTGGAAAGA 0.443000 9 9 0 0 3.86212e-05 0 0 ERVW-1 30816 broad.mit.edu 37 7 92099170 92099170 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:92099170G>T ENST00000493463.2 - 1 1449 c.526C>A c.(526-528)Cat>Aat p.H176N AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.H176N|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 176 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 gagacctcatggagcccagtg 0.483000 14 35 2.32078e-09 4.86454e-08 0.000308642 1 0 ISG20L2 81875 broad.mit.edu 37 1 156693162 156693162 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:156693162G>A ENST00000313146.6 - 3 1823 c.1041C>T c.(1039-1041)gcC>gcT p.A347A ISG20L2_ENST00000368219.1_Silent_p.A347A|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 347 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGGATTCCGGGCTAGGTGCT 0.567000 21 59 0 0 0.000229342 0 0 NUGGC 389643 broad.mit.edu 37 8 27922130 27922130 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:27922130G>A ENST00000413272.2 - 7 972 c.830C>T c.(829-831)cCc>cTc p.P277L NUGGC_ENST00000341513.6_Missense_Mutation_p.P277L NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated GTCGGATTTGGGAAGTGTCAC 0.557000 16 33 0 0 0.000308642 0 0 SOX7 83595 broad.mit.edu 37 8 10583632 10583632 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:10583632G>A ENST00000304501.1 - 2 861 c.783C>T c.(781-783)gcC>gcT p.A261A SOX7_ENST00000553390.1_Silent_p.A313A|SOX7_ENST00000554914.1_Silent_p.A313A NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 261 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) ACTGGCCAAGGGCCAGGGAGC 0.682000 25 43 0 0 0.000184323 0 0 CSMD2 114784 broad.mit.edu 37 1 34164364 34164364 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:34164364G>A ENST00000373381.4 - 24 4090 c.3914C>T c.(3913-3915)cCc>cTc p.P1305L CSMD2_ENST00000373380.1_Missense_Mutation_p.P178L|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1265 CUB 8. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACACAGGTGGGCAGAGGCCG 0.602000 7 68 0 0 0.000274275 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918976 12918976 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:12918976C>T ENST00000240189.2 + 2 199 c.112C>T c.(112-114)Cca>Tca p.P38S NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 38 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTCTATCTCCCACTCTTCAG 0.617000 11 89 0 0 0.000151284 0 0 PCLO 27445 broad.mit.edu 37 7 82763956 82763956 + Silent SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:82763956A>C ENST00000423517.2 - 3 3247 c.2910T>G c.(2908-2910)ccT>ccG p.P970P PCLO_ENST00000333891.8_Silent_p.P970P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 916 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity 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 GTGGCTGTGAAGGGGCAGGGG 0.512000 4 34 0 0 0.00024832 0 0 NLRP5 126206 broad.mit.edu 37 19 56515448 56515448 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:56515448G>A ENST00000390649.3 + 2 429 c.429G>A c.(427-429)cgG>cgA p.R143R NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 143 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGAAGGCACGGGATGACATGA 0.502000 17 68 0 0 0.000295444 0 0 PCSK5 5125 broad.mit.edu 37 9 78784688 78784688 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:78784688G>A ENST00000545128.1 + 13 2226 c.1688G>A c.(1687-1689)aGa>aAa p.R563K PCSK5_ENST00000376752.4_Missense_Mutation_p.R563K|PCSK5_ENST00000376767.3_Missense_Mutation_p.R563K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 563 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGGGGAGAAAGAGCTGCTGGT 0.423000 39 49 0 0 0.000437636 0 0 ACSM2A 123876 broad.mit.edu 37 16 20486689 20486689 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:20486689C>T ENST00000573854.1 + 7 1014 c.900C>T c.(898-900)ctC>ctT p.L300L ACSM2A_ENST00000536134.1_Silent_p.L72L|ACSM2A_ENST00000417235.2_Silent_p.L221L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.L300L|ACSM2A_ENST00000396104.2_Silent_p.L300L|ACSM2A_ENST00000219054.6_Silent_p.L300L NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 300 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 TCCAGACACTCTCCAGTTATC 0.473000 7 53 0 0 0.000274275 0 0 BCL11B 64919 broad.mit.edu 37 14 99723888 99723888 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:99723888C>T ENST00000345514.2 - 2 613 c.347G>A c.(346-348)gGg>gAg p.G116E BCL11B_ENST00000357195.3_Missense_Mutation_p.G116E|BCL11B_ENST00000443726.2_Intron NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 515 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GACTTGGATCCCGATCTCCAC 0.612000 T TLX3 T-ALL 5 30 0 0 8.12818e-05 0 0 VSIG10 54621 broad.mit.edu 37 12 118511792 118511792 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:118511792G>A ENST00000359236.5 - 5 1207 c.931C>T c.(931-933)Ccc>Tcc p.P311S NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 311 Ig-like C2-type 4. integral to membrane endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 AGAAGGGAGGGACCCCCTGGT 0.493000 17 11 0 0 0.000229342 0 0 DLL1 28514 broad.mit.edu 37 6 170592513 170592513 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:170592513C>T ENST00000366756.3 - 9 2187 c.1854G>A c.(1852-1854)aaG>aaA p.K618K NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 618 cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GGAAGTCCGCCTTCTTGTTGG 0.587000 22 74 0 0 0.00047179 0 0 ZNF98 148198 broad.mit.edu 37 19 22585597 22585597 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:22585597G>A ENST00000357774.5 - 3 368 c.247C>T c.(247-249)Ccc>Tcc p.P83S ZNF98_ENST00000601553.1_Missense_Mutation_p.P83S NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 83 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CTACCTGGGGGTTCAGTTACC 0.403000 13 88 0 0 7.07596e-05 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027541 150027541 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:150027541G>A ENST00000343855.4 + 1 604 c.48G>A c.(46-48)gtG>gtA p.V16V LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like TGAGCCAGGTGCTGCCCCAGC 0.642000 8 83 0 0 3.86212e-05 0 0 PRR23B 389151 broad.mit.edu 37 3 138739223 138739223 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:138739223C>T ENST00000329447.5 - 1 545 c.281G>A c.(280-282)gGa>gAa p.G94E MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 94 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAGGGTGTGTCCACCGAGAGA 0.662000 27 21 0 0 0.000184323 0 0 RNF152 220441 broad.mit.edu 37 18 59483638 59483638 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:59483638C>T ENST00000312828.3 - 2 1158 c.59G>A c.(58-60)aGc>aAc p.S20N NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 20 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GCGCCGGGGGCTGTAGTAATT 0.597000 20 62 0 0 0.000229342 0 0 ABCA6 23460 broad.mit.edu 37 17 67080433 67080433 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:67080433C>T ENST00000284425.2 - 34 4498 c.4324G>A c.(4324-4326)Ggc>Agc p.G1442S ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1442 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GGGTCTATGCCCGTAGATGGT 0.493000 17 34 0 0 0.000422831 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23816050 23816050 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:23816050G>A ENST00000264867.2 - 8 1175 c.1056C>T c.(1054-1056)tcC>tcT p.S352S PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 352 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CATACAACTCGGATTGCTCCG 0.537000 11 85 0 0 6.40141e-05 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15028247 15028247 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrY:15028247G>A ENST00000336079.3 + 13 1490 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K DDX3Y_ENST00000360160.4_Missense_Mutation_p.E462K NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 462 Helicase C-terminal. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CTTATACCATGAAGGATATGC 0.438000 10 17 0 0 3.86212e-05 0 0 CHEK2 11200 broad.mit.edu 37 22 29130443 29130443 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:29130443G>A ENST00000382580.2 - 2 342 c.267C>T c.(265-267)acC>acT p.T89T CHEK2_ENST00000404276.1_Silent_p.T89T|CHEK2_ENST00000405598.1_Silent_p.T89T|CHEK2_ENST00000402731.1_Silent_p.T89T|CHEK2_ENST00000403642.1_Silent_p.T89T|CHEK2_ENST00000348295.3_Silent_p.T89T|CHEK2_ENST00000328354.6_Silent_p.T89T|CHEK2_ENST00000382578.1_Silent_p.T89T|CHEK2_ENST00000382566.1_Silent_p.T89T|CHEK2_ENST00000382565.1_Silent_p.T89T|CHEK2_ENST00000544772.1_5'UTR NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 89 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AGGGGGCAGGGGTAGGCTCCT 0.493000 F breast Direct reversal of damage;Other conserved DNA damage response genes 16 25 0 0 0.000308642 0 0 M1AP 130951 broad.mit.edu 37 2 74834339 74834339 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:74834339C>T ENST00000290536.5 - 4 554 c.438G>A c.(436-438)ctG>ctA p.L146L M1AP_ENST00000536235.1_Silent_p.L146L|M1AP_ENST00000409585.1_Silent_p.L146L|M1AP_ENST00000358434.2_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein GCTGAGAAGTCAGAATAGTAA 0.433000 23 54 0 0 0.000117367 0 0 RNGTT 8732 broad.mit.edu 37 6 89479524 89479524 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:89479524G>A ENST00000369485.4 - 13 1594 c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C RNGTT_ENST00000265607.6_Missense_Mutation_p.R447C|RNGTT_ENST00000369475.3_Missense_Mutation_p.R470C|RNGTT_ENST00000538899.1_Missense_Mutation_p.R387C NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 470 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) ATTTTTAGACGAAAATCCACA 0.358000 9 19 0 0 0.000442599 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007428 93007428 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:93007428G>A ENST00000268164.3 + 6 1178 c.941G>A c.(940-942)gGc>gAc p.G314D ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G293D NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 314 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TACCTCTACGGCTTCTGGCCC 0.522000 19 52 0 0 0.000229342 0 0 LILRP2 79166 broad.mit.edu 37 19 55221523 55221523 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:55221523C>T ENST00000413439.1 + 0 1303 AGGCCAACTTCACCCTGGGCC 0.642000 8 20 0 0 0.000442599 0 0 LRIG1 26018 broad.mit.edu 37 3 66431917 66431917 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:66431917C>T ENST00000383703.3 - 18 3290 c.2687G>A c.(2686-2688)gGg>gAg p.G896E SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000273261.3_Missense_Mutation_p.G919E|LRIG1_ENST00000496559.2_5'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 919 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CTTATGTGGCCCAGGTGTCCC 0.507000 11 61 0 0 0.000151284 0 0 TRIM22 10346 broad.mit.edu 37 11 5730807 5730807 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:5730807C>T ENST00000379965.3 + 8 1703 c.1426C>T c.(1426-1428)Cga>Tga p.R476* TRIM5_ENST00000380027.1_Intron NM_001199573.1|NM_006074.4 NP_001186502.1|NP_006065.2 Q8IYM9 TRI22_HUMAN tripartite motif containing 22 476 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TCGCTTTTCTCGACCTGCTTA 0.473000 16 140 0 0 9.7654e-05 0 0 BCAS1 8537 broad.mit.edu 37 20 52569994 52569994 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:52569994G>A ENST00000395961.3 - 11 1823 c.1657C>T c.(1657-1659)Ctt>Ttt p.L553F BCAS1_ENST00000434986.2_Missense_Mutation_p.L219F|BCAS1_ENST00000371435.2_Missense_Mutation_p.L475F|BCAS1_ENST00000371440.3_Missense_Mutation_p.L562F NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 553 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) AAGCCCCCAAGGGACTGCTGC 0.532000 14 48 0 0 7.07596e-05 0 0 HDAC9 9734 broad.mit.edu 37 7 18801862 18801862 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:18801862C>T ENST00000406451.3 + 15 2267 c.2117C>T c.(2116-2118)cCc>cTc p.P706L HDAC9_ENST00000432645.2_Missense_Mutation_p.P706L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P665L|HDAC9_ENST00000441542.2_Missense_Mutation_p.P709L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 706 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GGCACCAACCCCCTGGACGGA 0.502000 5 5 0 0 1.23904e-05 0 0 SLC6A13 6540 broad.mit.edu 37 12 369044 369044 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:369044G>A ENST00000343164.4 - 2 227 c.175C>T c.(175-177)Ccc>Tcc p.P59S SLC6A13_ENST00000445055.2_Missense_Mutation_p.P59S|SLC6A13_ENST00000436453.1_Missense_Mutation_p.P59S NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 59 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CAGAGATAGGGAAACCTCCAG 0.562000 53 28 0 0 0.000147903 0 0 ISM2 145501 broad.mit.edu 37 14 77948741 77948741 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:77948741G>A ENST00000393684.3 - 5 1024 c.633C>T c.(631-633)ttC>ttT p.F211F ISM2_ENST00000342219.4_Silent_p.F299F|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000412904.1_Silent_p.F218F|ISM2_ENST00000429906.1_Silent_p.F218F Q6H9L7 ISM2_HUMAN isthmin 2 299 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 TAGTTCCATTGAACCAGAGCG 0.557000 18 19 0 0 0.000229342 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102883456 102883456 + RNA SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:102883456A>C ENST00000312132.4 - 0 2653 TTGAAAAAGAAGCACAGTACT 0.308000 5 40 0 0 8.12818e-05 0 0 UNC79 57578 broad.mit.edu 37 14 94160683 94160683 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:94160683G>A ENST00000553484.1 + 49 7810 c.7656G>A c.(7654-7656)atG>atA p.M2552I UNC79_ENST00000393151.2_Missense_Mutation_p.M2530I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2491I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2353I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2530 integral to membrane p.M2353I(1)|p.M2552I(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGTTTCAGATGGTAGAAATGG 0.388000 9 21 0 0 0.000442599 0 0 ARL4D 379 broad.mit.edu 37 17 41477138 41477138 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:41477138C>T ENST00000320033.4 + 2 245 c.38C>T c.(37-39)tCc>tTc p.S13F NM_001661.3 NP_001652.2 P49703 ARL4D_HUMAN ADP-ribosylation factor-like 4D 13 protein secretion|small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.155) CCCACTGCCTCCTCCTTCTTG 0.562000 9 46 0 0 3.86212e-05 0 0 PRB1 5542 broad.mit.edu 37 12 11506753 11506753 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:11506753C>T ENST00000500254.2 - 3 321 c.284G>A c.(283-285)gGa>gAa p.G95E PRB1_ENST00000545626.1_Missense_Mutation_p.G95E|PRB1_ENST00000546254.1_Missense_Mutation_p.G95E NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 278 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). 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) TTGTGGTTTTCCTGGAGGAGA 0.607000 83 181 0 0 0.000147903 0 0 MPP3 4356 broad.mit.edu 37 17 41891659 41891659 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:41891659G>A ENST00000398393.1 - 13 1415 c.1155C>T c.(1153-1155)tcC>tcT p.S385S MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Silent_p.S360S Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 360 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CAGCTCCGGAGGACATCTTTC 0.637000 29 56 0 0 0.000339439 0 0 DOCK3 1795 broad.mit.edu 37 3 51411906 51411906 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:51411906C>T ENST00000266037.9 + 50 5323 c.5300C>T c.(5299-5301)cCc>cTc p.P1767L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1767 Ser-rich. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ACAGGCTCTCCCTCTCTGCCA 0.552000 4 7 0 0 0.00024832 0 0 PLOD3 8985 broad.mit.edu 37 7 100855624 100855624 + Missense_Mutation SNP G G A rs150001477 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:100855624G>A ENST00000223127.3 - 10 1435 c.1037C>T c.(1036-1038)tCc>tTc p.S346F NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 346 protein modification process rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CTGCGGCCAGGAGTCAGCGAT 0.662000 13 67 0 0 0.000219431 0 0 MECOM 2122 broad.mit.edu 37 3 168861491 168861491 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:168861491C>T ENST00000264674.3 - 3 271 c.133G>A c.(133-135)Gat>Aat p.D45N MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000468789.1_5'UTR|MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000494292.1_Missense_Mutation_p.D169N|MECOM_ENST00000392736.3_5'UTR NM_001105077.3 NP_001098547.3 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CATACCTGATCATTTATCTGG 0.413000 26 49 0 0 0.000117367 0 0 SAG 6295 broad.mit.edu 37 2 234255480 234255480 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:234255480G>A ENST00000409110.1 + 16 1370 c.1140G>A c.(1138-1140)gaG>gaA p.E380E NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 380 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TAGTTTTTGAGGAGTTTGCTC 0.418000 6 29 0 0 8.12818e-05 0 0 ANO4 121601 broad.mit.edu 37 12 101480503 101480503 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:101480503C>T ENST00000392979.3 + 16 1858 c.1497C>T c.(1495-1497)ttC>ttT p.F499F ANO4_ENST00000392977.3_Silent_p.F534F|ANO4_ENST00000299222.9_Silent_p.F54F|ANO4_ENST00000550015.1_Silent_p.F54F NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 534 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCAGCACTTTCGCTGCCTTTA 0.507000 HNSCC(74;0.22) 14 54 0 0 7.07596e-05 0 0 SLFN11 91607 broad.mit.edu 37 17 33680866 33680866 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:33680866T>A ENST00000394566.1 - 6 1683 c.1411A>T c.(1411-1413)Att>Ttt p.I471F SLFN11_ENST00000308377.4_Missense_Mutation_p.I471F NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 471 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGTAGAGAATGGGGGTGCTG 0.512000 6 14 0 0 8.12818e-05 0 0 DCX 1641 broad.mit.edu 37 X 110653511 110653511 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:110653511C>T ENST00000338081.3 - 2 530 c.359G>A c.(358-360)cGa>cAa p.R120Q DCX_ENST00000356220.3_Missense_Mutation_p.R39Q|DCX_ENST00000488120.1_Missense_Mutation_p.R39Q|DCX_ENST00000356915.2_Missense_Mutation_p.R39Q|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R39Q NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 120 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GGTTCTGGTTCGGTAGAAGCT 0.527000 12 10 0 0 0.00010058 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684344 75684344 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:75684344G>A ENST00000370855.5 - 17 1473 c.1360C>T c.(1360-1362)Cct>Tct p.P454S SLC44A5_ENST00000535611.1_Missense_Mutation_p.P324S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P454S NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 454 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGGAAGGTAGGGATGTACTGA 0.413000 6 42 0 0 3.59834e-05 0 0 TFAP4 7023 broad.mit.edu 37 16 4311931 4311931 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:4311931G>A ENST00000204517.6 - 4 702 c.374C>T c.(373-375)cCc>cTc p.P125L NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 125 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CCGTCGCTTGGGGGACGAGCC 0.657000 OREG0023575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 8 0 0 1.23904e-05 0 0 PDE2A 5138 broad.mit.edu 37 11 72289356 72289356 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:72289356C>T ENST00000334456.5 - 30 2781 c.2536G>A c.(2536-2538)Gag>Aag p.E846K PDE2A_ENST00000376450.3_Missense_Mutation_p.E590K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E837K|PDE2A_ENST00000444035.2_Missense_Mutation_p.E837K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E731K|PDE2A_ENST00000544570.1_Missense_Mutation_p.E839K NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 846 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TCCATCATCTCCATCGGCCTG 0.562000 51 210 0 0 0.000147903 0 0 RAD21 5885 broad.mit.edu 37 8 117862909 117862909 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:117862909G>T ENST00000297338.2 - 12 1855 c.1568C>A c.(1567-1569)cCa>cAa p.P523Q RAD21_ENST00000518055.1_Missense_Mutation_p.P68Q|RAD21_ENST00000523986.1_Missense_Mutation_p.P27Q NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 523 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) ctctttttcTGGCAGAAGTTC 0.398000 6 68 3.59834e-05 0.000746526 3.59834e-05 1 0 COPB2 9276 broad.mit.edu 37 3 139094319 139094319 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:139094319C>G ENST00000333188.5 - 6 823 c.642G>C c.(640-642)tgG>tgC p.W214C COPB2_ENST00000507777.1_Missense_Mutation_p.W185C NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 214 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CCTGATAATCCCATATTTTAA 0.378000 6 78 0 0 3.59834e-05 0 0 CRHR2 1395 broad.mit.edu 37 7 30695256 30695256 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:30695256C>T ENST00000471646.1 - 10 1410 c.993G>A c.(991-993)ggG>ggA p.G331G CRHR2_ENST00000341843.4_Silent_p.G317G|CRHR2_ENST00000348438.4_Silent_p.G358G|CRHR2_ENST00000506074.2_Silent_p.G331G NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 331 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTCGTCCTCCCCGGGATTGA 0.592000 17 122 0 0 7.07596e-05 0 0 VWA8 23078 broad.mit.edu 37 13 42273273 42273273 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:42273273G>A ENST00000379310.3 - 29 3566 c.3498C>T c.(3496-3498)caC>caT p.H1166H NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TCACAAAAGGGTGCCAAACGC 0.473000 7 48 0 0 8.12818e-05 0 0 SUCO 51430 broad.mit.edu 37 1 172538211 172538211 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:172538211C>T ENST00000367723.3 + 7 1386 c.1262C>T c.(1261-1263)cCc>cTc p.P421L SUCO_ENST00000263688.3_Missense_Mutation_p.P262L NM_016227.2 NP_057311.2 SUN domain containing ossification factor GTAGCAAGTCCCAAAGATCCA 0.323000 31 80 0 0 0.000409698 0 0 MOGAT2 80168 broad.mit.edu 37 11 75431212 75431212 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:75431212C>T ENST00000526712.1 + 1 794 c.21C>T c.(19-21)atC>atT p.I7I MOGAT2_ENST00000198801.5_Silent_p.I89I Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 89 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) ATTTCCCCATCTCGGTGAGTA 0.592000 30 79 0 0 0.000279167 0 0 ABCC8 6833 broad.mit.edu 37 11 17464857 17464857 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:17464857G>A ENST00000302539.4 - 9 1460 c.1335C>T c.(1333-1335)atC>atT p.I445I ABCC8_ENST00000389817.3_Silent_p.I445I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 445 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CACCCACAATGATCTGAGGAA 0.537000 38 114 0 0 0.000374591 0 0 BTC 685 broad.mit.edu 37 4 75673320 75673320 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:75673320T>G ENST00000395743.3 - 5 828 c.468A>C c.(466-468)gaA>gaC p.E156D NM_001729.2 NP_001720.1 P35070 BTC_HUMAN betacellulin 156 positive regulation of cell division|positive regulation of cell proliferation extracellular space|integral to membrane|plasma membrane|soluble fraction epidermal growth factor receptor binding|growth factor activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(101;0.219) TTTCCATTTCTTCTTCTTTCT 0.343000 7 74 0 0 0.000274275 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841458 8841458 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:8841458C>T ENST00000324060.2 + 1 143 c.68C>T c.(67-69)tCa>tTa p.S23L NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CACTCAGGATCACGCCAGCTC 0.527000 8 42 0 0 0.000274275 0 0 TKTL1 8277 broad.mit.edu 37 X 153555960 153555960 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:153555960C>G ENST00000369915.3 + 11 1614 c.1425C>G c.(1423-1425)gaC>gaG p.D475E TKTL1_ENST00000217905.7_Missense_Mutation_p.D215E|TKTL1_ENST00000369912.2_Missense_Mutation_p.D419E|TKTL1_ENST00000482044.1_3'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 475 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGTCAGTGACAAGGTCACAG 0.463000 21 60 0 0 0.000295444 0 0 PRR5L 79899 broad.mit.edu 37 11 36453412 36453412 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:36453412C>T ENST00000378867.3 + 6 659 c.304C>T c.(304-306)Ctt>Ttt p.L102F PRR5L_ENST00000527487.1_Missense_Mutation_p.L102F|PRR5L_ENST00000530639.1_Missense_Mutation_p.L102F|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.L76F NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 102 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GAACCAGCTTCTTGCAAAAGG 0.483000 8 74 0 0 3.86212e-05 0 0 MYO16 23026 broad.mit.edu 37 13 109475492 109475492 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:109475492T>G ENST00000356711.2 + 9 1023 c.897T>G c.(895-897)ttT>ttG p.F299L MYO16_ENST00000357550.2_Missense_Mutation_p.F299L|MYO16_ENST00000251041.5_Missense_Mutation_p.F299L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 299 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCTCTGAGTTTATTGAGGAAA 0.358000 7 32 0 0 0.000157383 0 0 LEPR 3953 broad.mit.edu 37 1 66083825 66083825 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:66083825C>T ENST00000349533.6 + 16 2576 c.2391C>T c.(2389-2391)atC>atT p.I797I LEPR_ENST00000344610.8_Silent_p.I797I|LEPR_ENST00000371058.1_Silent_p.I797I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Silent_p.I797I|LEPR_ENST00000371060.3_Silent_p.I797I NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 797 Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGTATTATATCCATGGTAAGT 0.264000 24 68 0 0 7.16444e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9046505 9046505 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:9046505G>A ENST00000397910.4 - 5 35329 c.35126C>T c.(35125-35127)tCc>tTc p.S11709F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11711 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTACTATGGGAAAAACTGGA 0.512000 14 93 0 0 9.7654e-05 0 0 SLFN11 91607 broad.mit.edu 37 17 33680868 33680868 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:33680868G>A ENST00000394566.1 - 6 1681 c.1409C>T c.(1408-1410)cCc>cTc p.P470L SLFN11_ENST00000308377.4_Missense_Mutation_p.P470L NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 470 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTAGAGAATGGGGGTGCTGTT 0.522000 6 14 0 0 8.12818e-05 0 0 TRIOBP 11078 broad.mit.edu 37 22 38151143 38151143 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:38151143C>T ENST00000406386.3 + 14 5778 c.5523C>T c.(5521-5523)tcC>tcT p.S1841S TRIOBP_ENST00000403663.2_Silent_p.S128S|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.S128S NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1841 PH. actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACCTGCGTTCCTGCACGGATG 0.627000 6 9 0 0 0.000442599 0 0 PRDM16 63976 broad.mit.edu 37 1 3334463 3334463 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:3334463C>T ENST00000378398.3 + 12 2845 c.2763C>T c.(2761-2763)tcC>tcT p.S921S PRDM16_ENST00000378391.2_Silent_p.S921S|PRDM16_ENST00000514189.1_Silent_p.S921S|PRDM16_ENST00000511072.1_Silent_p.S922S|PRDM16_ENST00000442529.2_Silent_p.S920S|PRDM16_ENST00000441472.2_Silent_p.S920S|PRDM16_ENST00000270722.5_Silent_p.S921S|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 921 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGGGCAGCTCCCTGCAGCCCC 0.602000 T EVI1 """MDS, AML""" 14 58 0 0 0.000308642 0 0 PARK2 5071 broad.mit.edu 37 6 162394449 162394449 + Splice_Site SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:162394449C>T ENST00000366898.1 - 6 721 c.618_splice c.e6-1 p.E207_splice PARK2_ENST00000338468.3_Splice_Site_p.E16_splice|PARK2_ENST00000366894.1_Splice_Site_p.E16_splice|PARK2_ENST00000366896.1_Splice_Site_p.E58_splice|PARK2_ENST00000366897.1_Splice_Site_p.E179_splice|PARK2_ENST00000366892.1_Splice_Site_p.E207_splice NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 207 SYT11 binding 1. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) AAGAAAAATTCCTGAAAGAAA 0.398000 13 39 0 0 0.00010058 0 0 EDN3 1908 broad.mit.edu 37 20 57876671 57876671 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:57876671G>A ENST00000311585.7 + 2 629 c.259G>A c.(259-261)Ggg>Agg p.G87R EDN3_ENST00000371028.2_Missense_Mutation_p.G87R|EDN3_ENST00000337938.2_Missense_Mutation_p.G87R|EDN3_ENST00000395654.3_Missense_Mutation_p.G87R|EDN3_ENST00000371025.3_Missense_Mutation_p.G87R NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 87 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) GGCGGCCGAGGGGGCCCCTGA 0.642000 39 44 0 0 0.000270559 0 0 RNFT2 84900 broad.mit.edu 37 12 117271725 117271725 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:117271725C>T ENST00000257575.4 + 8 1244 c.1011C>T c.(1009-1011)atC>atT p.I337I RNFT2_ENST00000407967.3_Silent_p.I337I|RNFT2_ENST00000392549.2_Silent_p.I337I|RNFT2_ENST00000319176.7_Intron Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 337 integral to membrane zinc ion binding p.I337I(1)|p.I247I(1) endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) GGGTCCTGATCGTTCTCTACA 0.607000 8 11 0 0 0.000274275 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664240 22664240 + RNA SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:22664240T>G ENST00000426066.1 + 0 763 NR_027293.1 GATAAGCTGCTGATGAGCGGT 0.532000 5 39 0 0 3.59834e-05 0 0 TENM2 57451 broad.mit.edu 37 5 167687367 167687367 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:167687367C>T ENST00000519204.1 + 27 7267 c.7149C>T c.(7147-7149)ttC>ttT p.F2383F TENM2_ENST00000520394.1_Silent_p.F2265F|TENM2_ENST00000545108.1_Silent_p.F2503F|TENM2_ENST00000403607.2_Silent_p.F2328F|TENM2_ENST00000518659.1_Silent_p.F2504F teneurin transmembrane protein 2 AAATGTATTTCGTGCCTCCTC 0.428000 37 90 0 0 0.000191422 0 0 FADS2 9415 broad.mit.edu 37 11 61615704 61615704 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:61615704C>T ENST00000278840.4 + 5 1322 c.692C>T c.(691-693)cCc>cTc p.P231L FADS2_ENST00000522056.1_Missense_Mutation_p.P200L|FADS2_ENST00000521849.1_Missense_Mutation_p.P231L|FADS2_ENST00000257261.6_Missense_Mutation_p.P209L NM_004265.2 NP_004256.1 O95864 FADS2_HUMAN fatty acid desaturase 2 231 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) CACAAGGATCCCGATGTGAAC 0.567000 19 86 0 0 0.000175454 0 0 NGDN 25983 broad.mit.edu 37 14 23946554 23946554 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:23946554C>T ENST00000397154.3 + 9 872 c.859C>T c.(859-861)Cat>Tat p.H287Y NGDN_ENST00000408901.3_Missense_Mutation_p.H287Y|NGDN_ENST00000556580.1_Missense_Mutation_p.H43Y Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 287 regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GGGAACTGTTCATCTTGATGA 0.448000 47 98 0 0 0.000147903 0 0 FAM151B 167555 broad.mit.edu 37 5 79817891 79817891 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:79817891C>T ENST00000282226.4 + 5 760 c.605C>T c.(604-606)cCt>cTt p.P202L FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 202 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) GTAACGTTCCCTGTCAGAGCA 0.343000 34 72 0 0 0.000132358 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874691 144874691 + Silent SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:144874691G>T ENST00000369359.4 - 33 5363 c.5325C>A c.(5323-5325)ccC>ccA p.P1775P PDE4DIP_ENST00000369356.4_Silent_p.P1639P|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.P1775P|PDE4DIP_ENST00000369354.3_Silent_p.P1639P|PDE4DIP_ENST00000313382.9_Silent_p.P1595P Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1639 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.P1639P(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGAGTGACTGGGAGAAGCTT 0.502000 T PDGFRB MPD 13 277 1.15088e-07 2.39746e-06 0.000422831 1 0 ANAPC10 10393 broad.mit.edu 37 4 146017176 146017176 + Missense_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:146017176C>A ENST00000507656.1 - 2 169 c.76G>T c.(76-78)Ggg>Tgg p.G26W ANAPC10_ENST00000309439.5_Missense_Mutation_p.G26W|ANAPC10_ENST00000451299.2_Missense_Mutation_p.G26W|ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000512680.1_Missense_Mutation_p.G26W NM_001256706.1 NP_001243635.1 Q9UM13 APC10_HUMAN anaphase promoting complex subunit 10 26 DOC. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm ubiquitin-protein ligase activity endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 all_hematologic(180;0.151) GCTTGTGACCCAATTTCCCGT 0.413000 11 265 0.000308642 0.00636417 0.000308642 1 0 RGS7 6000 broad.mit.edu 37 1 240978044 240978044 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:240978044G>A ENST00000366565.1 - 12 1198 c.817C>T c.(817-819)Cgg>Tgg p.R273W RGS7_ENST00000446183.2_Missense_Mutation_p.R189W|RGS7_ENST00000331110.7_Missense_Mutation_p.R247W|RGS7_ENST00000366564.1_Missense_Mutation_p.R273W|RGS7_ENST00000348120.2_Missense_Mutation_p.R220W|RGS7_ENST00000366563.1_Missense_Mutation_p.R273W|RGS7_ENST00000401882.1_Missense_Mutation_p.R220W|RGS7_ENST00000407727.1_Missense_Mutation_p.R273W|RGS7_ENST00000366562.4_Missense_Mutation_p.R273W NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 273 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.R273W(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ATTTTTAACCGATGTCTATCT 0.289000 17 95 0 0 0.000229342 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764350 109764350 + RNA SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:109764350T>A ENST00000602699.1 + 0 811 NR_002718.2 CCCTAATTGTTAAAAGCTATG 0.433000 11 36 0 0 0.000219431 0 0 AKAP13 11214 broad.mit.edu 37 15 86124251 86124251 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:86124251G>A ENST00000394518.2 + 7 3047 c.2952G>A c.(2950-2952)ccG>ccA p.P984P AKAP13_ENST00000361243.2_Silent_p.P984P NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 984 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GTAATTCACCGGGTGCATCCT 0.488000 11 115 0 0 6.40141e-05 0 0 ITPR1 3708 broad.mit.edu 37 3 4716865 4716865 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:4716865C>G ENST00000354582.6 + 23 3062 c.2712C>G c.(2710-2712)atC>atG p.I904M ITPR1_ENST00000456211.2_Missense_Mutation_p.I889M|ITPR1_ENST00000423119.2_Missense_Mutation_p.I904M|ITPR1_ENST00000357086.4_Missense_Mutation_p.I904M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.I889M|ITPR1_ENST00000302640.8_Missense_Mutation_p.I889M Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 904 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGACAACAATCTTCCCCATTA 0.418000 11 101 0 0 0.00010058 0 0 CDH9 1007 broad.mit.edu 37 5 26916004 26916004 + Missense_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:26916004C>A ENST00000231021.4 - 3 429 c.257G>T c.(256-258)gGa>gTa p.G86V NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 86 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TTTTAAATTTCCATCTCCTTT 0.338000 12 65 1.52009e-12 3.19945e-11 0.000308642 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121815 38121815 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:38121815C>T ENST00000406386.3 + 7 3507 c.3252C>T c.(3250-3252)ccC>ccT p.P1084P RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1084 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATTTGACCCCTTCCCCTTCC 0.632000 8 35 0 0 0.000151284 0 0 CSMD2 114784 broad.mit.edu 37 1 34164363 34164363 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:34164363G>A ENST00000373381.4 - 24 4091 c.3915C>T c.(3913-3915)ccC>ccT p.P1305P CSMD2_ENST00000373380.1_Silent_p.P178P|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1265 CUB 8. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGACACAGGTGGGCAGAGGCC 0.607000 7 68 0 0 0.000274275 0 0 PAF1 54623 broad.mit.edu 37 19 39879984 39879984 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:39879984C>G ENST00000221265.3 - 6 729 c.399G>C c.(397-399)aaG>aaC p.K133N PAF1_ENST00000595564.1_Missense_Mutation_p.K123N|PAF1_ENST00000221266.7_Missense_Mutation_p.K123N NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 133 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TGTACTCTGTCTTTCGCATCC 0.532000 6 87 0 0 0.000274275 0 0 GRAMD3 65983 broad.mit.edu 37 5 125816369 125816369 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:125816369C>T ENST00000285689.3 + 8 1166 c.705C>T c.(703-705)ttC>ttT p.F235F RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000511134.1_Silent_p.F219F|GRAMD3_ENST00000515200.1_Silent_p.F212F|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000513040.1_Silent_p.F250F|GRAMD3_ENST00000502348.1_Silent_p.F126F|GRAMD3_ENST00000542322.1_Silent_p.F243F|GRAMD3_ENST00000544396.1_Silent_p.F131F|GRAMD3_ENST00000543198.1_Silent_p.F212F NM_023927.2 NP_076416.2 Q96HH9 GRAM3_HUMAN GRAM domain containing 3 235 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108) AAAACAGTTTCCGAGCAGACC 0.398000 11 69 0 0 0.000151284 0 0 TTC37 9652 broad.mit.edu 37 5 94863796 94863796 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:94863796C>G ENST00000358746.2 - 13 1353 c.1055G>C c.(1054-1056)tGt>tCt p.C352S NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 352 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 CAAATGAAGACAAAGATTCCT 0.383000 13 36 0 0 0.000219431 0 0 FAT4 79633 broad.mit.edu 37 4 126402830 126402830 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:126402830G>A ENST00000394329.3 + 15 12766 c.12753G>A c.(12751-12753)agG>agA p.R4251R FAT4_ENST00000335110.5_Silent_p.R2492R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4251 Laminin G-like 2. 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 TAAAATTTAGGACCAGAAGCG 0.403000 13 40 0 0 0.000151284 0 0 HEATR1 55127 broad.mit.edu 37 1 236739525 236739525 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:236739525G>C ENST00000366582.3 - 22 3192 c.3078C>G c.(3076-3078)aaC>aaG p.N1026K HEATR1_ENST00000366581.2_Missense_Mutation_p.N1026K NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1026 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATACCTCACCGTTGACTCCCT 0.363000 31 102 0 0 0.000409698 0 0 VN1R4 317703 broad.mit.edu 37 19 53770583 53770583 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:53770583C>T ENST00000311170.4 - 1 389 c.336G>A c.(334-336)agG>agA p.R112R NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 112 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity p.R112R(1) central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) ACCTGGATTTCCTGGAGCTGA 0.498000 HNSCC(26;0.072) 4 27 0 0 3.59834e-05 0 0 AWAT1 158833 broad.mit.edu 37 X 69459652 69459652 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:69459652G>A ENST00000374521.3 + 6 741 c.700G>A c.(700-702)Gat>Aat p.D234N NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 234 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 GTTCCATAAGGATAGCAGGAT 0.463000 12 40 0 0 0.000308642 0 0 GSDMA 284110 broad.mit.edu 37 17 38133095 38133095 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:38133095C>T ENST00000301659.4 + 12 1240 c.1122C>T c.(1120-1122)ttC>ttT p.F374F NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 374 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 AACAGAACTTCCTGCTGGATA 0.522000 19 73 0 0 0.000132079 0 0 NLRP3 114548 broad.mit.edu 37 1 247588789 247588789 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:247588789G>A ENST00000366497.2 + 4 2824 c.2044G>A c.(2044-2046)Ggg>Agg p.G682R NLRP3_ENST00000348069.2_Missense_Mutation_p.G682R|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.G682R|NLRP3_ENST00000366496.2_Missense_Mutation_p.G682R|NLRP3_ENST00000336119.3_Missense_Mutation_p.G682R|NLRP3_ENST00000391827.2_Missense_Mutation_p.G682R NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 682 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) ACTGTCCCTGGGGTTTCTCCA 0.507000 8 39 0 0 0.000442599 0 0 OR13F1 138805 broad.mit.edu 37 9 107267237 107267237 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:107267237G>A ENST00000334726.2 + 1 783 c.694G>A c.(694-696)Gaa>Aaa p.E232K NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CAGCTCAGTGGAAGGTCGAAG 0.493000 30 92 0 0 8.91981e-05 0 0 SETBP1 26040 broad.mit.edu 37 18 42643219 42643219 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:42643219C>T ENST00000282030.5 + 6 4643 c.4347C>T c.(4345-4347)ttC>ttT p.F1449F NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1449 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCAACAACTTCGTGAAGAAGA 0.547000 Schinzel-Giedion syndrome 6 9 0 0 3.59834e-05 0 0 ITGB5 3693 broad.mit.edu 37 3 124567289 124567289 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:124567289G>A ENST00000296181.4 - 4 774 c.478C>T c.(478-480)Ctg>Ttg p.L160L ITGB5_ENST00000488466.1_5'UTR NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 160 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TTGGTGCCCAGGCTCCGGATA 0.532000 23 76 0 0 0.00047179 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716751 13716751 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:13716751C>T ENST00000279593.3 - 13 3630 c.3421G>A c.(3421-3423)Gag>Aag p.E1141K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1141 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTGAGTTCTCCTTTGTTCGG 0.612000 13 8 0 0 0.000308642 0 0 SLC16A2 6567 broad.mit.edu 37 X 73749050 73749050 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:73749050C>T ENST00000276033.5 + 5 1561 c.1395C>T c.(1393-1395)gtC>gtT p.V465V SLC16A2_ENST00000587091.1_Silent_p.V391V P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 391 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) TTCTCCAGGTCCTTTCCTTCC 0.527000 5 5 0 0 1.23904e-05 0 0 SGSM1 129049 broad.mit.edu 37 22 25264821 25264821 + Splice_Site SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:25264821C>T ENST00000400358.4 + 12 1347 c.1291_splice c.e12+1 p.F430_splice SGSM1_ENST00000400359.4_Splice_Site_p.F430_splice NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 430 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 AGTCGGAATTCGGTGAGCTGC 0.532000 25 65 0 0 0.000184323 0 0 KANK4 163782 broad.mit.edu 37 1 62739653 62739653 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:62739653C>T ENST00000371153.4 - 3 1501 c.1123G>A c.(1123-1125)Gag>Aag p.E375K KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 375 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TTGATTTCCTCTTCCTGCTGC 0.537000 20 80 0 0 0.000175454 0 0 TAGAP 117289 broad.mit.edu 37 6 159458043 159458043 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:159458043T>C ENST00000367066.3 - 10 1343 c.1012A>G c.(1012-1014)Aca>Gca p.T338A RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.T160A|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 338 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCAGCAGCTGTGGCCATGGGC 0.627000 10 62 0 0 0.00010058 0 0 SLC6A19 340024 broad.mit.edu 37 5 1213673 1213673 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:1213673C>T ENST00000304460.10 + 5 815 c.759C>T c.(757-759)ttC>ttT p.F253F NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 253 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.F253L(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCATCGTCTTCCTCTTCACGC 0.652000 7 24 0 0 0.000442599 0 0 TPTE 7179 broad.mit.edu 37 21 10908889 10908889 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:10908889G>A ENST00000298232.7 - 22 1769 c.1402C>T c.(1402-1404)Cct>Tct p.P468S TPTE_ENST00000361285.4_Missense_Mutation_p.P486S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P448S NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 486 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TAGTATGTAGGAAGATTCTAA 0.264000 6 48 0 0 0.000274275 0 0 YTHDC1 91746 broad.mit.edu 37 4 69188590 69188590 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:69188590G>A ENST00000344157.4 - 11 1813 c.1478C>T c.(1477-1479)cCc>cTc p.P493L YTHDC1_ENST00000355665.3_Missense_Mutation_p.P475L|YTHDC1_ENST00000579690.1_Missense_Mutation_p.P493L NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 493 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TTCATCGGGGGGAAACAGAAG 0.423000 10 56 0 0 0.000151284 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769888 112769888 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:112769888C>T ENST00000390666.3 - 1 840 c.649G>A c.(649-651)Gac>Aac p.D217N MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 217 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TTGGAGTCGTCGTAGGGCATG 0.577000 12 40 0 0 0.000151284 0 0 CPN2 1370 broad.mit.edu 37 3 194061932 194061932 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:194061932G>A ENST00000323830.3 - 2 1589 c.1500C>T c.(1498-1500)cgC>cgT p.R500R CPN2_ENST00000429275.1_Silent_p.R500R NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 500 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CGTTCAGCCAGCGACACTGGG 0.652000 9 11 0 0 0.000274275 0 0 DSCAML1 57453 broad.mit.edu 37 11 117342587 117342587 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:117342587C>T ENST00000321322.6 - 15 3131 c.3130G>A c.(3130-3132)Gcc>Acc p.A1044T DSCAML1_ENST00000527706.1_Missense_Mutation_p.A774T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 984 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGCTCACCGGCCTCCTCAGTG 0.587000 14 79 0 0 9.7654e-05 0 0 DENND2C 163259 broad.mit.edu 37 1 115168587 115168587 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:115168587G>A ENST00000393274.1 - 4 644 c.19C>T c.(19-21)Cgt>Tgt p.R7C DENND2C_ENST00000393276.3_Missense_Mutation_p.R7C|DENND2C_ENST00000393277.1_Missense_Mutation_p.R7C NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 7 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGTAGTACGAGAAAAACCA 0.358000 15 56 0 0 7.07596e-05 0 0 KRT2 3849 broad.mit.edu 37 12 53040562 53040562 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:53040562G>A ENST00000309680.3 - 7 1452 c.1431C>T c.(1429-1431)atC>atT p.I477I NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 477 Coil 2.|Rod. I -> N (in IBS). keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) GGTAGGTGGCGATCTCCACAT 0.637000 31 50 0 0 0.000228196 0 0 MUC16 94025 broad.mit.edu 37 19 9085397 9085397 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:9085397T>A ENST00000397910.4 - 1 6621 c.6418A>T c.(6418-6420)Atc>Ttc p.I2140F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2140 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAGAGCTGATACTTGCCCCC 0.502000 5 50 0 0 1.23904e-05 0 0 MLLT4 4301 broad.mit.edu 37 6 168297634 168297634 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:168297634G>A ENST00000366806.2 + 10 1441 c.1299G>A c.(1297-1299)ttG>ttA p.L433L MLLT4_ENST00000344191.4_Silent_p.L433L|MLLT4_ENST00000447894.2_Silent_p.L433L|MLLT4_ENST00000400822.3_Silent_p.L432L|MLLT4_ENST00000392112.1_Silent_p.L417L|MLLT4_ENST00000392108.3_Silent_p.L433L|MLLT4_ENST00000351017.4_Silent_p.L433L P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 433 FHA. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CAGAAAAGTTGGATGACAACT 0.458000 T MLL AL 5 39 0 0 1.23904e-05 0 0 SRGAP2 23380 broad.mit.edu 37 1 206619523 206619523 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:206619523C>T ENST00000414007.1 + 14 1557 c.1557C>T c.(1555-1557)tcC>tcT p.S519S SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 659 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) ACCAGGTGTCCTGCCAAGCCC 0.557000 12 41 0 0 0.000151284 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107233 120107233 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:120107233C>T ENST00000307128.5 + 6 886 c.673C>T c.(673-675)Ccc>Tcc p.P225S NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 225 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CTTTGTCAATCCCCTTTCTGG 0.383000 18 58 0 0 9.7654e-05 0 0 ZNF618 114991 broad.mit.edu 37 9 116812003 116812003 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:116812003C>T ENST00000288466.7 + 14 2241 c.2142C>T c.(2140-2142)atC>atT p.I714I ZNF618_ENST00000374126.5_Silent_p.I807I|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 807 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 TGGCCATGATCCTGGACCCGC 0.617000 10 35 0 0 3.86212e-05 0 0 EDN3 1908 broad.mit.edu 37 20 57876672 57876672 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:57876672G>A ENST00000311585.7 + 2 630 c.260G>A c.(259-261)gGg>gAg p.G87E EDN3_ENST00000371028.2_Missense_Mutation_p.G87E|EDN3_ENST00000337938.2_Missense_Mutation_p.G87E|EDN3_ENST00000395654.3_Missense_Mutation_p.G87E|EDN3_ENST00000371025.3_Missense_Mutation_p.G87E NM_207032.1 NP_996915.1 P14138 EDN3_HUMAN endothelin 3 87 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) GCGGCCGAGGGGGCCCCTGAG 0.642000 39 45 0 0 0.000270559 0 0 KCNQ3 3786 broad.mit.edu 37 8 133184869 133184869 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:133184869C>T ENST00000388996.4 - 7 1536 c.1116G>A c.(1114-1116)agG>agA p.R372R KCNQ3_ENST00000521134.1_Silent_p.R252R|KCNQ3_ENST00000519445.1_Silent_p.R372R NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 372 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CAGCTGGCTTCCTCCTTTTCT 0.552000 15 188 0 0 9.7654e-05 0 0 C6orf15 29113 broad.mit.edu 37 6 31079247 31079247 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:31079247G>A ENST00000259870.3 - 2 892 c.889C>T c.(889-891)Cct>Tct p.P297S NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 297 Pro-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ACTCCAGGAGGAAATGGGTTA 0.522000 18 38 0 0 7.07596e-05 0 0 CCDC93 54520 broad.mit.edu 37 2 118732778 118732778 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:118732778G>A ENST00000376300.2 - 9 873 c.736C>T c.(736-738)Cga>Tga p.R246* CCDC93_ENST00000319432.5_Nonsense_Mutation_p.R245*|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 246 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 TCAGCTGCTCGAAGCTCATCT 0.502000 39 117 0 0 0.000147903 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315246 30315246 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:30315246C>T ENST00000375377.1 - 3 3932 c.3831G>A c.(3829-3831)agG>agA p.R1277R NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1277 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AGTCGGCATTCCTGAAGCTCA 0.622000 12 23 0 0 0.00010058 0 0 KIAA1009 22832 broad.mit.edu 37 6 84883856 84883856 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:84883856C>T ENST00000403245.3 - 16 2191 c.2077G>A c.(2077-2079)Gaa>Aaa p.E693K KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E617K NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 693 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TCAGCTGCTTCTCCAAAATGT 0.358000 12 7 0 0 6.40141e-05 0 0 ATXN7 6314 broad.mit.edu 37 3 63975917 63975917 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:63975917C>T ENST00000398590.3 + 10 1980 c.1427C>T c.(1426-1428)tCt>tTt p.S476F ATXN7_ENST00000538065.1_Missense_Mutation_p.S476F|ATXN7_ENST00000487717.1_Missense_Mutation_p.S476F|ATXN7_ENST00000484332.1_Missense_Mutation_p.S331F|ATXN7_ENST00000295900.6_Missense_Mutation_p.S476F NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 476 Pro-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) GTCCATGAATCTCCACACCCT 0.567000 7 37 0 0 0.000157383 0 0 ADAM29 11086 broad.mit.edu 37 4 175898916 175898916 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:175898916C>T ENST00000359240.3 + 5 2910 c.2240C>T c.(2239-2241)cCt>cTt p.P747L ADAM29_ENST00000404450.4_Missense_Mutation_p.P747L|ADAM29_ENST00000445694.1_Missense_Mutation_p.P747L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P747L|RP13-577H12.2_ENST00000507525.1_RNA NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 747 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CCTGTGACGCCTTCCCAGAGT 0.537000 9 34 0 0 0.000442599 0 0 SYCP2L 221711 broad.mit.edu 37 6 10912947 10912947 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:10912947C>T ENST00000283141.6 + 13 1256 c.960C>T c.(958-960)atC>atT p.I320I RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Silent_p.I161I NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 320 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AATTTTGGATCGACTTCAACC 0.348000 16 89 0 0 9.7654e-05 0 0 C20orf26 26074 broad.mit.edu 37 20 20208996 20208996 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:20208996C>T ENST00000245957.5 + 18 2112 c.2036C>T c.(2035-2037)tCc>tTc p.S679F C20orf26_ENST00000497372.1_3'UTR|C20orf26_ENST00000377293.1_Missense_Mutation_p.S35F|C20orf26_ENST00000377309.2_Missense_Mutation_p.S35F|C20orf26_ENST00000389656.3_Missense_Mutation_p.S35F NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 679 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GTTGGAATTTCCTTCCTAGAG 0.333000 44 172 0 0 0.000147903 0 0 DSG4 147409 broad.mit.edu 37 18 28989524 28989524 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:28989524G>A ENST00000359747.4 + 13 2072 c.2043G>A c.(2041-2043)tgG>tgA p.W681* RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Nonsense_Mutation_p.W681*|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 681 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCAGTCTTGGAGAATTGAAG 0.512000 21 70 0 0 7.16444e-05 0 0 TRIOBP 11078 broad.mit.edu 37 22 38155249 38155249 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:38155249T>C ENST00000406386.3 + 17 6557 c.6302T>C c.(6301-6303)aTc>aCc p.I2101T TRIOBP_ENST00000403663.2_Missense_Mutation_p.I388T|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Missense_Mutation_p.I388T NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 2101 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GATGGCCACATCCCCCCGGGC 0.602000 4 21 0 0 0.00024832 0 0 OR4A16 81327 broad.mit.edu 37 11 55111010 55111010 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:55111010C>T ENST00000314721.2 + 1 384 c.334C>T c.(334-336)Ctt>Ttt p.L112F NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 AGAGGTCTTCCTTTTGGTGGT 0.443000 11 62 0 0 6.40141e-05 0 0 FGA 2243 broad.mit.edu 37 4 155507765 155507765 + Silent SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:155507765T>A ENST00000302053.3 - 5 894 c.816A>T c.(814-816)ggA>ggT p.G272G FGA_ENST00000403106.3_Silent_p.G272G NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 272 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGGTGGAGCCTCCTCGAGTAA 0.542000 7 41 0 0 0.000157383 0 0 CECR1 51816 broad.mit.edu 37 22 17688149 17688149 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:17688149G>A ENST00000399839.1 - 3 624 c.354C>T c.(352-354)atC>atT p.I118I CECR1_ENST00000399837.2_Silent_p.I118I|CECR1_ENST00000262607.3_Silent_p.I118I|CECR1_ENST00000449907.2_Silent_p.I76I Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 118 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CCATAGTCACGATGCCAATGT 0.552000 17 18 0 0 0.000175454 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156629388 156629388 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:156629388G>A ENST00000296518.7 + 5 527 c.317_splice c.e5-1 p.R106_splice GUCY1A3_ENST00000511507.1_Splice_Site_p.R106_splice|GUCY1A3_ENST00000506455.1_Splice_Site_p.R106_splice|GUCY1A3_ENST00000513574.1_Splice_Site_p.R106_splice|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511108.1_Splice_Site_p.R106_splice|GUCY1A3_ENST00000455639.2_Splice_Site_p.R106_splice|GUCY1A3_ENST00000393832.3_5'UTR Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 106 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATATTTCCAGGAAATCTTTGG 0.264000 8 58 0 0 3.86212e-05 0 0 METTL22 79091 broad.mit.edu 37 16 8735995 8735995 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:8735995C>T ENST00000381920.3 + 8 1096 c.838C>T c.(838-840)Ccc>Tcc p.P280S METTL22_ENST00000561758.1_Missense_Mutation_p.P224S|METTL22_ENST00000568967.1_3'UTR NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 280 methyltransferase activity large_intestine(5)|lung(4) 9 TCCCAAGGTCCCCTTCAGTTG 0.483000 15 41 0 0 0.000219431 0 0 BMP15 9210 broad.mit.edu 37 X 50659363 50659363 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:50659363C>G ENST00000252677.3 + 2 935 c.935C>G c.(934-936)cCc>cGc p.P312R NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 312 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) ATCATTGCTCCCCCTTTCTAC 0.483000 13 53 0 0 7.07596e-05 0 0 KRT71 112802 broad.mit.edu 37 12 52941659 52941659 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:52941659G>A ENST00000267119.5 - 6 1155 c.1086C>T c.(1084-1086)atC>atT p.I362I NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 362 Coil 2.|Rod. structural molecule activity p.I362I(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) TCACGTTCTCGATCTCTGAGC 0.562000 23 164 0 0 9.22233e-05 0 0 CAGE1 285782 broad.mit.edu 37 6 7373880 7373880 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:7373880T>C ENST00000502583.1 - 5 1736 c.1172A>G c.(1171-1173)aAc>aGc p.N391S CAGE1_ENST00000512086.1_Missense_Mutation_p.N391S|CAGE1_ENST00000338150.4_Missense_Mutation_p.N391S|CAGE1_ENST00000296742.7_Missense_Mutation_p.N255S|CAGE1_ENST00000379918.4_Missense_Mutation_p.N391S NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 391 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) TTTTTGCGTGTTAGCTAAAAC 0.328000 34 38 0 0 0.000339439 0 0 EPHB1 2047 broad.mit.edu 37 3 134851843 134851843 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:134851843C>T ENST00000398015.3 + 5 1619 c.1249C>T c.(1249-1251)Ccc>Tcc p.P417S EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 417 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CAGCAAGAGTCCCTTCCCCCC 0.587000 8 21 0 0 3.86212e-05 0 0 PANK3 79646 broad.mit.edu 37 5 167995759 167995759 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:167995759G>A ENST00000239231.6 - 2 589 c.273C>T c.(271-273)gaC>gaT p.D91D NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 91 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) AAGTAGGCAGGTCCTGGGTTG 0.433000 23 93 0 0 0.000295444 0 0 SCN4A 6329 broad.mit.edu 37 17 62019255 62019255 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:62019255G>A ENST00000578147.1 - 24 4463 c.4387C>T c.(4387-4389)Cgc>Tgc p.R1463C SCN4A_ENST00000435607.1_Missense_Mutation_p.R1463C P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1463 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) TTGGCCCCGCGGATCAGCCGC 0.617000 6 17 0 0 8.12818e-05 0 0 NTRK3 4916 broad.mit.edu 37 15 88678351 88678351 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:88678351G>A ENST00000394480.1 - 10 1506 c.1185C>T c.(1183-1185)ttC>ttT p.F395F NTRK3_ENST00000557856.1_Silent_p.F395F|NTRK3_ENST00000355254.2_Silent_p.F395F|NTRK3_ENST00000542733.2_Silent_p.F297F|NTRK3_ENST00000540489.2_Silent_p.F395F|NTRK3_ENST00000317501.3_Silent_p.F395F|NTRK3_ENST00000360948.2_Silent_p.F395F|NTRK3_ENST00000558676.1_Silent_p.F395F|NTRK3_ENST00000357724.2_Silent_p.F395F NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 395 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GCTCCTTGAGGAAGTGGCCAT 0.537000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 42 83 0 0 0.000147903 0 0 SCN5A 6331 broad.mit.edu 37 3 38655513 38655513 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:38655513C>T ENST00000413689.1 - 6 849 c.656G>A c.(655-657)cGa>cAa p.R219Q SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000451551.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000414099.2_Missense_Mutation_p.R219Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R219Q NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 219 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCTGAAAGTTCGAAGAGCCGA 0.433000 6 16 0 0 0.000157383 0 0 COL20A1 57642 broad.mit.edu 37 20 61938855 61938855 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:61938855C>T ENST00000422202.1 + 5 599 c.531C>T c.(529-531)ttC>ttT p.F177F COL20A1_ENST00000435874.1_Silent_p.F177F|COL20A1_ENST00000326996.6_Silent_p.F170F|COL20A1_ENST00000358894.6_Silent_p.F170F Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 170 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCCCCCAGTTCCGCTGCCTGC 0.682000 7 15 0 0 0.000157383 0 0 SOGA3 387104 broad.mit.edu 37 6 127796649 127796649 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:127796649G>A ENST00000556132.1 - 6 3386 c.2522C>T c.(2521-2523)aCc>aTc p.T841I SOGA3_ENST00000525778.1_Missense_Mutation_p.T841I|SOGA3_ENST00000481848.2_Missense_Mutation_p.T841I|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000368268.2_Missense_Mutation_p.T841I|SOGA3_ENST00000465909.2_Missense_Mutation_p.T841I NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 841 integral to membrane GCGCGCCTCGGTGATGATGGT 0.652000 51 44 0 0 0.000147903 0 0 DAB2 1601 broad.mit.edu 37 5 39381706 39381706 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:39381706C>T ENST00000545653.1 - 10 1821 c.1291G>A c.(1291-1293)Gac>Aac p.D431N DAB2_ENST00000320816.6_Missense_Mutation_p.D452N|DAB2_ENST00000509337.1_Missense_Mutation_p.D431N|DAB2_ENST00000339788.6_Missense_Mutation_p.D234N NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 452 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GCAAGCAAGTCATTGGCTGAA 0.527000 11 40 0 0 0.00010058 0 0 RAG2 5897 broad.mit.edu 37 11 36615566 36615566 + Missense_Mutation SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:36615566C>A ENST00000311485.3 - 2 314 c.153G>T c.(151-153)aaG>aaT p.K51N NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 51 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CATGGTTATGCTTTACATCCA 0.458000 Familial Hemophagocytic Lymphohistiocytosis 19 108 8.00594e-06 0.000166435 9.7654e-05 1 0 DHRS2 10202 broad.mit.edu 37 14 24114495 24114495 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:24114495C>T ENST00000344777.7 + 9 1325 c.887C>T c.(886-888)cCa>cTa p.P296L DHRS2_ENST00000250383.6_3'UTR NM_182908.4 NP_878912.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 0 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) GCTGTGGTCCCAGGCCCAGGA 0.597000 31 46 0 0 0.000491102 0 0 G6PC 2538 broad.mit.edu 37 17 41053008 41053008 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:41053008C>T ENST00000253801.2 + 1 194 c.115C>T c.(115-117)Ctc>Ttc p.L39F G6PC_ENST00000592383.1_Missense_Mutation_p.L39F|G6PC_ENST00000585489.1_Missense_Mutation_p.L39F NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 39 gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) GATCGCAGACCTCAGGAATGC 0.498000 58 50 0 0 0.000147903 0 0 LILRB2 10288 broad.mit.edu 37 19 54783826 54783826 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:54783826G>A ENST00000391748.1 - 4 302 c.175C>T c.(175-177)Cgt>Tgt p.R59C LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59C|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59C|LILRB2_ENST00000391749.4_Missense_Mutation_p.R59C NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 59 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTATATAGACGGTACTCCTGG 0.547000 28 129 0 0 9.22233e-05 0 0 FBXL6 26233 broad.mit.edu 37 8 145580326 145580326 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:145580326G>A ENST00000331890.5 - 6 991 c.927C>T c.(925-927)atC>atT p.I309I FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.I303I NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 309 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TATTACGGTTGATGCCGGTGC 0.652000 11 101 0 0 6.40141e-05 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415269 210415269 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:210415269C>T ENST00000367012.3 + 4 888 c.658C>T c.(658-660)Ccc>Tcc p.P220S SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 220 Ser-rich. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TGcctcctctccctccgcctc 0.502000 14 47 0 0 0.000151284 0 0 TTN 7273 broad.mit.edu 37 2 179596099 179596099 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:179596099C>T ENST00000589042.1 - 59 17618 c.17394G>A c.(17392-17394)ggG>ggA p.G5798G TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.G4554G|TTN_ENST00000591111.1_Silent_p.G5481G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5481 Ig-like 39. 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) AGACATATTTCCCATCATGCT 0.408000 28 63 0 0 0.000184323 0 0 OR4K2 390431 broad.mit.edu 37 14 20344937 20344937 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:20344937C>T ENST00000298642.2 + 1 547 c.511C>T c.(511-513)Ccc>Tcc p.P171S NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATTCTGTGGTCCCTATGAGGT 0.478000 76 196 0 0 0.000147903 0 0 DGKK 139189 broad.mit.edu 37 X 50147080 50147080 + RNA SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:50147080G>A ENST00000376025.2 - 0 1104 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GATAAGGCAGGAATGCTCTCT 0.463000 6 15 0 0 8.12818e-05 0 0 OR8B4 283162 broad.mit.edu 37 11 124294453 124294453 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:124294453G>A ENST00000356130.3 - 1 336 c.315C>T c.(313-315)ttC>ttT p.F105F NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AATTGACAAAGAAACAGAAGA 0.433000 10 26 0 0 3.86212e-05 0 0 MRPL18 29074 broad.mit.edu 37 6 160212136 160212136 + Missense_Mutation SNP C C T rs11556776 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:160212136C>T ENST00000367034.4 + 2 339 c.217C>T c.(217-219)Ccc>Tcc p.P73S MRPL18_ENST00000480842.1_3'UTR NM_014161.3 NP_054880.2 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 73 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 11 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) GACGGTGTTTCCCTCCCGTGA 0.522000 7 27 0 0 0.000157383 0 0 TRHR 7201 broad.mit.edu 37 8 110100443 110100443 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:110100443G>A ENST00000518632.1 + 2 1053 c.702G>A c.(700-702)tgG>tgA p.W234* TRHR_ENST00000311762.2_Nonsense_Mutation_p.W234* P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 234 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CTAAGACATGGAAAAATGATT 0.378000 18 29 0 0 7.07596e-05 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74537937 74537937 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:74537937G>A ENST00000553458.1 - 6 789 c.691C>T c.(691-693)Cct>Tct p.P231S AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P218S|CCDC176_ENST00000553773.1_Intron NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 231 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity p.P231T(1) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) GTTCCATCAGGGGCACCAGAA 0.458000 11 96 0 0 6.40141e-05 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309433 22309433 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:22309433C>T ENST00000390433.1 + 0 12 TGATGATATCCTTGAGAGTTT 0.353000 14 44 0 0 0.000422831 0 0 OR13H1 347468 broad.mit.edu 37 X 130678899 130678899 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:130678899G>A ENST00000338616.3 + 1 950 c.852G>A c.(850-852)ttG>ttA p.L284L NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CACCCATGTTGAACCCCCTGA 0.408000 11 15 0 0 0.00010058 0 0 PCLO 27445 broad.mit.edu 37 7 82763754 82763754 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:82763754C>T ENST00000423517.2 - 3 3449 c.3112G>A c.(3112-3114)Gct>Act p.A1038T PCLO_ENST00000333891.8_Missense_Mutation_p.A1038T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 984 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity 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 TGAGGCTCAGCTGTTAAAGAT 0.413000 18 30 0 0 7.07596e-05 0 0 CYP2C19 1557 broad.mit.edu 37 10 96535211 96535211 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:96535211G>A ENST00000371321.3 + 3 478 c.396G>A c.(394-396)cgG>cgA p.R132R CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 132 R -> Q (in allele CYP2C19*6; loss of activity). exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGACGCTGCGGAATTTTGGGA 0.507000 19 45 0 0 0.000229342 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925405 6925405 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:6925405C>T ENST00000409757.4 + 2 413 c.289C>T c.(289-291)Ccc>Tcc p.P97S TBC1D14_ENST00000448507.1_Missense_Mutation_p.P97S NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 97 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CGACCTCATCCCCGAGCGGGC 0.667000 11 87 0 0 0.000219431 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554818 40554818 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:40554818G>A ENST00000297737.6 - 4 441 c.295C>T c.(295-297)Cac>Tac p.H99Y ZMAT4_ENST00000315769.7_Missense_Mutation_p.H99Y NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 99 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CTCTTGGCGTGGATTTTGCCT 0.493000 29 67 0 0 0.000279167 0 0 NOS1 4842 broad.mit.edu 37 12 117696212 117696212 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:117696212C>T ENST00000317775.6 - 16 3206 c.2521G>A c.(2521-2523)Gaa>Aaa p.E841K NOS1_ENST00000338101.4_Missense_Mutation_p.E841K|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 841 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TTCCTTTCTTCCTGCACAGAG 0.483000 20 29 0 0 0.000375601 0 0 IL17A 3605 broad.mit.edu 37 6 52051240 52051240 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:52051240G>A ENST00000340057.1 + 1 56 c.11G>A c.(10-12)gGg>gAg p.G4E NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 4 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ATGACTCCTGGGAAGACCTCA 0.478000 8 28 0 0 0.000157383 0 0 LAMB4 22798 broad.mit.edu 37 7 107746344 107746344 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:107746344C>T ENST00000388781.3 - 8 871 c.788G>A c.(787-789)gGa>gAa p.G263E LAMB4_ENST00000205386.4_Missense_Mutation_p.G263E|LAMB4_ENST00000414450.2_Missense_Mutation_p.G263E|LAMB4_ENST00000388780.3_Missense_Mutation_p.G263E NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 263 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 AAAGCAGCTTCCCCGAACAAT 0.468000 9 55 0 0 0.000442599 0 0 MYH1 4619 broad.mit.edu 37 17 10401063 10401063 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:10401063C>T ENST00000226207.5 - 31 4447 c.4353G>A c.(4351-4353)agG>agA p.R1451R CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1451 R -> T (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TATCAAAGTTCCTTTGCTTTT 0.443000 22 53 0 0 0.000227799 0 0 MCOLN1 57192 broad.mit.edu 37 19 7595243 7595243 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:7595243C>T ENST00000264079.6 + 12 1556 c.1431C>T c.(1429-1431)ttC>ttT p.F477F NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 477 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TTGTGACGTTCGCCGCCATGC 0.597000 20 178 0 0 0.000295444 0 0 AGO2 27161 broad.mit.edu 37 8 141566090 141566090 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:141566090G>A ENST00000220592.5 - 10 1286 c.1174C>T c.(1174-1176)Cca>Tca p.P392S AGO2_ENST00000519980.1_Missense_Mutation_p.P392S NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 CGGACGTATGGATCTGTGTTG 0.562000 35 66 0 0 0.000319135 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049495 42049495 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:42049495G>A ENST00000372584.1 - 3 1988 c.974C>T c.(973-975)tCc>tTc p.S325F HIVEP3_ENST00000429157.2_Missense_Mutation_p.S325F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S325F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S325F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 325 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTGGGACAGGGAACAGCGTTC 0.602000 13 86 0 0 0.000151284 0 0 SPATA2 9825 broad.mit.edu 37 20 48522753 48522753 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:48522753G>A ENST00000422556.1 - 3 1315 c.966C>T c.(964-966)gcC>gcT p.A322A SPATA2_ENST00000543716.1_Silent_p.A185A|SPATA2_ENST00000289431.5_Silent_p.A322A NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 322 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGCGCAGCAGGGCCGGGCCGT 0.662000 18 65 0 0 0.000375601 0 0 PHLDB3 653583 broad.mit.edu 37 19 43998878 43998878 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:43998878G>A ENST00000292140.5 - 9 1485 c.1125C>T c.(1123-1125)ctC>ctT p.L375L NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 375 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) GGACAGAAAAGAGGCAGGAAG 0.597000 7 22 0 0 0.000274275 0 0 CR1 1378 broad.mit.edu 37 1 207812749 207812749 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:207812749C>T ENST00000367049.4 + 47 7465 c.7465C>T c.(7465-7467)Cct>Tct p.P2489S CR1_ENST00000400960.2_Missense_Mutation_p.P2039S|CR1_ENST00000367053.1_Missense_Mutation_p.P2039S|CR1_ENST00000367052.1_Missense_Mutation_p.P2039S|CR1_ENST00000367051.1_Missense_Mutation_p.P2039S NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 2039 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CAGGGTCCTTCCTTGACAAAG 0.363000 7 9 0 0 0.000274275 0 0 DNAH2 146754 broad.mit.edu 37 17 7690336 7690336 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:7690336C>T ENST00000572933.1 + 42 8048 c.6588C>T c.(6586-6588)atC>atT p.I2196I DNAH2_ENST00000389173.2_Silent_p.I2196I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2196 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCGAGCGCATCGCGATGCCCG 0.637000 7 19 0 0 8.12818e-05 0 0 RIF1 55183 broad.mit.edu 37 2 152300166 152300166 + Silent SNP G G A rs140493456 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:152300166G>A ENST00000243326.4 + 17 2412 c.1929G>A c.(1927-1929)gaG>gaA p.E643E RIF1_ENST00000453091.2_Silent_p.E643E|RIF1_ENST00000444746.2_Silent_p.E643E|RIF1_ENST00000430328.2_Silent_p.E643E|RIF1_ENST00000428287.2_Silent_p.E643E Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 643 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) AAAATAAGGAGCATCTCTGGA 0.348000 91 60 0 0 0.000147903 0 0 DNAH5 1767 broad.mit.edu 37 5 13864563 13864563 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:13864563G>A ENST00000265104.4 - 28 4643 c.4539C>T c.(4537-4539)agC>agT p.S1513S CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1513 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTAACTTAAAGCTTTCATTCC 0.468000 Kartagener syndrome 23 29 0 0 0.000295444 0 0 BIRC6 57448 broad.mit.edu 37 2 32712717 32712717 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:32712717C>T ENST00000421745.2 + 41 7951 c.7817C>T c.(7816-7818)tCa>tTa p.S2606L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2606 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTTTCAGTATCACAGTCTCCC 0.318000 18 61 0 0 0.000295444 0 0 HYDIN 54768 broad.mit.edu 37 16 71103214 71103214 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:71103214G>A ENST00000393567.2 - 14 2080 c.1930C>T c.(1930-1932)Cct>Tct p.P644S HYDIN_ENST00000448691.1_Missense_Mutation_p.P644S|HYDIN_ENST00000448089.2_Missense_Mutation_p.P644S|HYDIN_ENST00000393550.2_Missense_Mutation_p.P659S|HYDIN_ENST00000541601.1_Missense_Mutation_p.P661S|HYDIN_ENST00000321489.5_Missense_Mutation_p.P644S|HYDIN_ENST00000288168.10_Missense_Mutation_p.P661S|HYDIN_ENST00000538248.1_Missense_Mutation_p.P671S NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 644 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCACAGTCAGGAGAGATGGTG 0.453000 4 36 0 0 3.86212e-05 0 0 NAIP 4671 broad.mit.edu 37 5 70308413 70308413 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:70308413C>T ENST00000517649.1 - 4 620 c.330G>A c.(328-330)acG>acA p.T110T NAIP_ENST00000194097.4_Silent_p.T110T|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Silent_p.T110T NM_004536.2 NP_004527.2 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein 110 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) TGGGGAGTCTCGTGAGGCCGG 0.493000 14 60 0 0 0.000151284 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74541683 74541683 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:74541683G>A ENST00000553458.1 - 2 184 c.86C>T c.(85-87)tCa>tTa p.S29L AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.S29L|ALDH6A1_ENST00000556852.1_5'UTR|CCDC176_ENST00000553773.1_Intron NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 29 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) GGAAGATGCTGAATACCAGGT 0.368000 8 53 0 0 0.00010058 0 0 FCRL5 83416 broad.mit.edu 37 1 157497543 157497543 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:157497543C>T ENST00000361835.3 - 9 1981 c.1824G>A c.(1822-1824)ggG>ggA p.G608G FCRL5_ENST00000368190.3_Silent_p.G608G|FCRL5_ENST00000368191.3_Silent_p.G523G|FCRL5_ENST00000356953.4_Silent_p.G608G NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 608 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CTGAGCTGCTCCCCAGGGTGA 0.567000 19 27 0 0 0.000132079 0 0 VPS13C 54832 broad.mit.edu 37 15 62223331 62223331 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:62223331G>A ENST00000261517.5 - 50 6069 c.5996C>T c.(5995-5997)aCc>aTc p.T1999I VPS13C_ENST00000249837.3_Missense_Mutation_p.T1956I|VPS13C_ENST00000395896.4_Missense_Mutation_p.T1999I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T1956I NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1999 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATCATCAAGGGTGCATGTCTT 0.428000 30 40 0 0 8.91981e-05 0 0 ZZEF1 23140 broad.mit.edu 37 17 3999198 3999198 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:3999198C>T ENST00000381638.2 - 11 1964 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 614 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AAGTGTTCTTCCGCACAAAAT 0.398000 53 32 0 0 0.000147903 0 0 DOCK8 81704 broad.mit.edu 37 9 382626 382626 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:382626G>A ENST00000432829.2 + 22 2831 c.2515G>A c.(2515-2517)Gac>Aac p.D839N DOCK8_ENST00000382329.1_Missense_Mutation_p.D374N|DOCK8_ENST00000382331.1_Missense_Mutation_p.D209N|DOCK8_ENST00000453981.1_Missense_Mutation_p.D907N|DOCK8_ENST00000469391.1_Missense_Mutation_p.D839N NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 907 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAGTAACCCAGACCTCGCGGG 0.562000 9 29 0 0 0.000442599 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54661864 54661864 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:54661864G>A ENST00000474759.1 + 10 1062 c.1014G>A c.(1012-1014)ttG>ttA p.L338L CACNA2D3_ENST00000490478.1_Silent_p.L244L|CACNA2D3_ENST00000288197.5_Silent_p.L338L|CACNA2D3_ENST00000415676.2_Silent_p.L338L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 338 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTGGAATGTTGGATATAGCTC 0.408000 4 23 0 0 3.59834e-05 0 0 TRIB1 10221 broad.mit.edu 37 8 126448703 126448703 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:126448703T>C ENST00000311922.3 + 3 1691 c.1109T>C c.(1108-1110)tTc>tCc p.F370S TRIB1_ENST00000520847.1_Missense_Mutation_p.F204S|TRIB1_ENST00000519576.1_Missense_Mutation_p.F139S NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 370 JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) ATTAGTTCCTTCTTCTGCTAA 0.463000 94 157 0 0 0.000147903 0 0 HTR7 3363 broad.mit.edu 37 10 92509030 92509030 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:92509030G>A ENST00000371721.3 - 2 1103 c.861C>T c.(859-861)atC>atT p.I287I HTR7_ENST00000371719.2_Silent_p.I287I|HTR7_ENST00000277874.6_Silent_p.I287I|HTR7_ENST00000336152.3_Silent_p.I287I P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 287 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CATTCAGGGCGATGACGCTGT 0.488000 4 17 0 0 1.23904e-05 0 0 RSBN1 54665 broad.mit.edu 37 1 114310987 114310987 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:114310987G>A ENST00000261441.5 - 5 1746 c.1683C>T c.(1681-1683)ctC>ctT p.L561L NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 561 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTAGGTACTGGAGATTTTTTA 0.398000 5 61 0 0 1.23904e-05 0 0 ZZEF1 23140 broad.mit.edu 37 17 3917765 3917765 + Missense_Mutation SNP G G C rs142020410 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:3917765G>C ENST00000381638.2 - 50 8314 c.8190C>G c.(8188-8190)ttC>ttG p.F2730L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2730 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ACTGAGAGTCGAATTTGATTG 0.517000 52 51 0 0 0.000147903 0 0 CC2D2A 57545 broad.mit.edu 37 4 15512933 15512933 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:15512933G>A ENST00000424120.1 + 8 858 c.604G>A c.(604-606)Gaa>Aaa p.E202K CC2D2A_ENST00000503292.1_Missense_Mutation_p.E202K|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E153K|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E202K|CC2D2A_ENST00000513811.1_3'UTR Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 202 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 CTTTGATCCCGAACCAGAAGG 0.463000 8 10 0 0 0.000157383 0 0 XIRP1 165904 broad.mit.edu 37 3 39225770 39225770 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:39225770C>T ENST00000340369.3 - 2 5395 c.5167G>A c.(5167-5169)Gac>Aac p.D1723N XIRP1_ENST00000421646.1_Missense_Mutation_p.D406N|XIRP1_ENST00000396251.1_3'UTR NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1723 Interaction with FLNC. actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGGGTGATGTCCTTCTTCCCA 0.582000 14 35 0 0 0.000151284 0 0 TAS1R2 80834 broad.mit.edu 37 1 19186034 19186034 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:19186034G>A ENST00000375371.3 - 1 142 c.121C>T c.(121-123)Ctc>Ttc p.L41F RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 41 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TTGGCATGGAGGGAGAAGAGG 0.577000 12 50 0 0 0.000219431 0 0 RIPK4 54101 broad.mit.edu 37 21 43162041 43162041 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:43162041C>T ENST00000352483.2 - 9 1520 c.1456G>A c.(1456-1458)Ggt>Agt p.G486S RIPK4_ENST00000542057.1_Missense_Mutation_p.G375S|RIPK4_ENST00000544709.1_Missense_Mutation_p.G375S|RIPK4_ENST00000332512.3_Missense_Mutation_p.G438S Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 438 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AGGCTGGCACCGCTGTCCAGT 0.627000 38 73 0 0 0.000159656 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:7577082C>T ENST00000420246.2 - 8 988 c.856G>A c.(856-858)Gaa>Aaa p.E286K TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000269305.4_Missense_Mutation_p.E286K|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) AGATTCTCTTCCTCTGTGCGC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 17 8 0 0 5.01169e-05 0 0 ZNF711 7552 broad.mit.edu 37 X 84526058 84526058 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:84526058C>T ENST00000360700.4 + 10 2534 c.1648C>T c.(1648-1650)Cct>Tct p.P550S ZNF711_ENST00000373165.3_Missense_Mutation_p.P504S|ZNF711_ENST00000395402.1_Missense_Mutation_p.P512S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P504S|ZNF711_ENST00000542798.1_Missense_Mutation_p.P346S Q9Y462 ZN711_HUMAN zinc finger protein 711 504 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 CAAGAATTTTCCTCATGTTTG 0.433000 6 1 0 0 8.12818e-05 0 0 ANK2 287 broad.mit.edu 37 4 114288909 114288909 + Silent SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:114288909C>G ENST00000357077.4 + 42 11273 c.11220C>G c.(11218-11220)ctC>ctG p.L3740L ANK2_ENST00000510275.2_Silent_p.L307L|ANK2_ENST00000394537.3_Silent_p.L1655L|ANK2_ENST00000264366.6_Silent_p.L3707L|ANK2_ENST00000506722.1_Silent_p.L1646L|ANK2_ENST00000509550.1_Silent_p.L831L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3707 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAACAGCACTCTTTCCCCAAA 0.468000 20 33 0 0 0.000229342 0 0 TAOK1 57551 broad.mit.edu 37 17 27807479 27807479 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:27807479C>T ENST00000261716.3 + 7 1062 c.543C>T c.(541-543)tcC>tcT p.S181S TAOK1_ENST00000536202.1_Silent_p.S181S NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 181 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CTGCCAATTCCTTTGTGGGAA 0.418000 20 24 0 0 0.000375601 0 0 ERO1L 30001 broad.mit.edu 37 14 53112975 53112975 + Silent SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:53112975A>G ENST00000395686.3 - 15 1466 c.1243T>C c.(1243-1245)Tta>Cta p.L415L NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 415 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) TCAGAAAATAAGATCTTCAGA 0.328000 5 131 0 0 1.23904e-05 0 0 ZNF546 339327 broad.mit.edu 37 19 40521320 40521320 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:40521320C>T ENST00000347077.4 + 7 2359 c.2143C>T c.(2143-2145)Cac>Tac p.H715Y ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.H689Y NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCAAAGAATTCACACTGGTGA 0.388000 26 38 0 0 0.000147802 0 0 TBCK 93627 broad.mit.edu 37 4 107154798 107154798 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:107154798G>A ENST00000273980.4 - 17 1906 c.1459C>T c.(1459-1461)Cat>Tat p.H487Y TBCK_ENST00000432496.2_Missense_Mutation_p.H487Y|TBCK_ENST00000394706.3_Missense_Mutation_p.H448Y|TBCK_ENST00000394708.2_Missense_Mutation_p.H487Y|TBCK_ENST00000361687.4_Missense_Mutation_p.H424Y Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 487 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TACTTGGCATGAATAGCTCCC 0.274000 4 13 0 0 1.23904e-05 0 0 SERTM1 400120 broad.mit.edu 37 13 37269376 37269376 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:37269376T>A ENST00000315190.3 + 2 607 c.161T>A c.(160-162)tTt>tAt p.F54Y NM_203451.2 NP_982276.2 A2A2V5 CM036_HUMAN serine-rich and transmembrane domain containing 1 54 integral to membrane p.F54C(1) CTTTTAGCGTTTCTGCTTCTG 0.493000 17 67 0 0 0.000375601 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808538 18808538 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:18808538C>T ENST00000400664.1 + 1 1115 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 355 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGGCCGTGGCCCTCCACCCG 0.687000 6 20 0 0 0.000157383 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032986 82032986 + Silent SNP G G A rs1143453 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:82032986G>A ENST00000328945.5 - 3 1039 c.912C>T c.(910-912)ctC>ctT p.L304L NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 304 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GGAAGTTGTAGAGTCGACCCA 0.463000 16 25 0 0 9.7654e-05 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6530406 6530406 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:6530406C>T ENST00000377748.1 - 17 2418 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E601K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E564K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E620K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E633K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E564K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E643K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E641K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E564K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E564K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E564K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E564K NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 620 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TGCAGAAATTCCTTCAGGAGC 0.637000 4 21 0 0 0.00024832 0 0 PDE1A 5136 broad.mit.edu 37 2 183104841 183104841 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:183104841C>T ENST00000435564.1 - 3 594 c.394G>A c.(394-396)Gaa>Aaa p.E132K PDE1A_ENST00000536095.1_Missense_Mutation_p.E28K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E116K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E116K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E132K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E98K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E132K|PDE1A_ENST00000410103.1_Missense_Mutation_p.E132K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E132K|PDE1A_ENST00000482538.1_5'UTR NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 132 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACTTACCTTTCCACAAAAATT 0.363000 33 80 0 0 0.000159656 0 0 LRP1 4035 broad.mit.edu 37 12 57588878 57588878 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:57588878C>T ENST00000243077.3 + 51 8768 c.8302C>T c.(8302-8304)Cac>Tac p.H2768Y NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2768 LDL-receptor class A 16. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGAGGCTGCTCACTGTGGTAA 0.632000 38 38 0 0 0.000106405 0 0 KDM3B 51780 broad.mit.edu 37 5 137726914 137726914 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:137726914C>T ENST00000314358.5 + 8 1793 c.1593C>T c.(1591-1593)tcC>tcT p.S531S KDM3B_ENST00000394866.1_Silent_p.S187S|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 531 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AATGCATGTCCCAAACTTTAC 0.428000 15 39 0 0 0.000422831 0 0 KLHL17 339451 broad.mit.edu 37 1 898107 898107 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:898107C>T ENST00000338591.3 + 6 959 c.852C>T c.(850-852)ccC>ccT p.P284P NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 284 BACK. actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGCGGCTGCCCTTGCTGAGCC 0.657000 5 21 0 0 1.23904e-05 0 0 AVPR2 554 broad.mit.edu 37 X 153171107 153171107 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:153171107G>A ENST00000358927.2 + 3 356 c.147G>A c.(145-147)gtG>gtA p.V49V AVPR2_ENST00000337474.5_Silent_p.V49V|AVPR2_ENST00000370049.1_Silent_p.V49V P30518 V2R_HUMAN arginine vasopressin receptor 2 49 activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) TAGTCTTTGTGGCTGTGGCCC 0.692000 5 10 0 0 3.59834e-05 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854208 12854208 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:12854208C>G ENST00000332296.7 + 3 535 c.432C>G c.(430-432)caC>caG p.H144Q NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 144 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGGAGAGCACCAGCCCTTAA 0.537000 23 186 0 0 0.000227799 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141106 143141106 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:143141106C>T ENST00000332690.1 + 1 561 c.561C>T c.(559-561)agC>agT p.S187S EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 187 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) GCATACGGAGCTACTGTGAGA 0.398000 17 182 0 0 7.07596e-05 0 0 PALMD 54873 broad.mit.edu 37 1 100152699 100152699 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:100152699G>A ENST00000263174.4 + 6 843 c.468G>A c.(466-468)agG>agA p.R156R PALMD_ENST00000605497.1_Silent_p.R156R NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 156 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CTAGGTTAAGGAAGGAGATAA 0.318000 16 70 0 0 0.000229342 0 0 CR1 1378 broad.mit.edu 37 1 207812750 207812750 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:207812750C>T ENST00000367049.4 + 47 7466 c.7466C>T c.(7465-7467)cCt>cTt p.P2489L CR1_ENST00000400960.2_Missense_Mutation_p.P2039L|CR1_ENST00000367053.1_Missense_Mutation_p.P2039L|CR1_ENST00000367052.1_Missense_Mutation_p.P2039L|CR1_ENST00000367051.1_Missense_Mutation_p.P2039L NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 2039 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGGGTCCTTCCTTGACAAAGT 0.368000 7 8 0 0 0.000274275 0 0 ATMIN 23300 broad.mit.edu 37 16 81077589 81077589 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:81077589A>T ENST00000566488.1 + 3 1981 c.1018A>T c.(1018-1020)Agt>Tgt p.S340C ATMIN_ENST00000299575.4_Missense_Mutation_p.S496C|ATMIN_ENST00000564241.1_Missense_Mutation_p.S340C|ATMIN_ENST00000539819.1_3'UTR O43313 ATMIN_HUMAN ATM interactor 496 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 AACTCAAACCAGTGGGATAGA 0.448000 17 36 0 0 5.01169e-05 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497688 1497688 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:1497688T>C ENST00000421627.2 + 2 963 c.829T>C c.(829-831)Ttg>Ctg p.L277L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 356 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CTGTGAGGGGTTGGCGCTGAC 0.652000 15 20 0 0 7.07596e-05 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435601 5435601 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:5435601G>A ENST00000380419.3 - 4 1257 c.1220C>T c.(1219-1221)gCc>gTc p.A407V TUBAL3_ENST00000479328.1_Missense_Mutation_p.A367V NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 407 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 TGCTCTCTTGGCGTACATGAG 0.577000 8 27 0 0 0.000442599 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84700118 84700118 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:84700118G>A ENST00000286744.5 + 28 4912 c.4688G>A c.(4687-4689)aGg>aAg p.R1563K ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1563K NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1563 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CGTGCTGTGAGGATGCAGCAG 0.522000 29 214 0 0 0.000109025 0 0 SCN1A 6323 broad.mit.edu 37 2 166848898 166848898 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:166848898G>A ENST00000423058.2 - 26 4904 c.4887C>T c.(4885-4887)ttC>ttT p.F1629F SCN1A_ENST00000409050.1_Silent_p.F1601F|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.F1629F|SCN1A_ENST00000375405.3_Silent_p.F1618F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1629 voltage-gated sodium channel complex voltage-gated sodium channel activity p.F1618F(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TAGGGGACACGAAATACTTTT 0.433000 21 15 0 0 7.16444e-05 0 0 CBLN4 140689 broad.mit.edu 37 20 54575808 54575808 + Silent SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:54575808G>C ENST00000064571.2 - 2 1687 c.387C>G c.(385-387)gtC>gtG p.V129V NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 129 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) GGCTCTGGTAGACTTTAATCA 0.373000 6 146 0 0 0.000157383 0 0 MMAA 166785 broad.mit.edu 37 4 146560327 146560327 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:146560327C>T ENST00000281317.5 + 2 1246 c.36C>T c.(34-36)ttC>ttT p.F12F MMAA_ENST00000541599.1_5'UTR NM_172250.2 NP_758454.1 Q8IVH4 MMAA_HUMAN methylmalonic aciduria (cobalamin deficiency) cblA type 12 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCAGCATTTCCTAAAAGGCC 0.438000 14 130 0 0 5.01169e-05 0 0 GCK 2645 broad.mit.edu 37 7 44189372 44189372 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:44189372G>A ENST00000403799.3 - 6 1135 c.666C>T c.(664-666)gtC>gtT p.V222V GCK_ENST00000345378.2_Silent_p.V223V|GCK_ENST00000395796.3_Silent_p.V221V|GCK_ENST00000437084.1_Silent_p.V205V NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 222 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding p.V223V(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 CGATCATGCCGACCTCGCACT 0.577000 118 204 0 0 0.000147903 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923759 43923759 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:43923759T>A ENST00000329196.5 + 1 1504 c.1487T>A c.(1486-1488)aTg>aAg p.M496K MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 496 integral to membrane aspartic-type endopeptidase activity CTCATGCAGATGGGCCAACCT 0.612000 48 23 0 0 0.000147903 0 0 FBXW12 285231 broad.mit.edu 37 3 48414292 48414292 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:48414292G>A ENST00000296438.5 + 2 221 c.35G>A c.(34-36)cGa>cAa p.R12Q FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000445170.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.R12Q NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 12 F-box. breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTTTGAAGCGAATCTTCTCT 0.537000 32 88 0 0 8.91981e-05 0 0 BAZ2A 11176 broad.mit.edu 37 12 56993772 56993772 + Silent SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:56993772G>C ENST00000179765.5 - 26 5110 c.4911C>G c.(4909-4911)gcC>gcG p.A1637A BAZ2A_ENST00000379441.3_Silent_p.A1639A|BAZ2A_ENST00000551812.1_Silent_p.A1669A|BAZ2A_ENST00000549884.1_Silent_p.A1667A Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1669 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 ACTTCTCCCAGGCAATGGACC 0.652000 15 70 0 0 7.07596e-05 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374068 113374068 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:113374068G>A ENST00000316407.4 - 7 6871 c.6461C>T c.(6460-6462)tCa>tTa p.S2154L KIAA2018_ENST00000478658.1_Missense_Mutation_p.S2154L|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2154 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AGATAAAATTGATCCAAATCG 0.403000 9 36 0 0 0.000442599 0 0 KLHL1 57626 broad.mit.edu 37 13 70314608 70314608 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr13:70314608C>T ENST00000377844.4 - 8 2479 c.1720G>A c.(1720-1722)Gat>Aat p.D574N KLHL1_ENST00000545028.1_Missense_Mutation_p.D381N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 574 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTCTGTGGATCCCACCTTTCC 0.413000 6 27 0 0 3.59834e-05 0 0 ZNF85 7639 broad.mit.edu 37 19 21116903 21116903 + Missense_Mutation SNP G G A rs149214151 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:21116903G>A ENST00000328178.8 + 2 190 c.77G>A c.(76-78)cGg>cAg p.R26Q ZNF85_ENST00000300540.3_Missense_Mutation_p.R26Q|ZNF85_ENST00000597314.1_Missense_Mutation_p.R26Q|ZNF85_ENST00000596476.1_5'UTR|ZNF85_ENST00000345030.6_Missense_Mutation_p.R26Q NM_001256173.1|NM_003429.4 NP_001243102.1|NP_003420.2 Q03923 ZNF85_HUMAN zinc finger protein 85 26 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 ACTGCACAGCGGAATTTATAT 0.408000 12 167 0 0 0.000151284 0 0 NPL 80896 broad.mit.edu 37 1 182787806 182787806 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:182787806C>T ENST00000367554.3 + 7 849 c.531C>T c.(529-531)ttC>ttT p.F177F NPL_ENST00000367553.1_Silent_p.F196F|NPL_ENST00000367552.2_Silent_p.F196F|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000258317.2_Silent_p.F196F|NPL_ENST00000367555.1_Silent_p.F196F NM_001200050.1 NP_001186979.1 Q9BXD5 NPL_HUMAN N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) 196 carbohydrate metabolic process cytoplasm N-acetylneuraminate lyase activity breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1) 15 AGTTTGCTTTCCTTTTTGGGG 0.453000 10 16 0 0 3.86212e-05 0 0 UCN3 114131 broad.mit.edu 37 10 5415751 5415751 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:5415751C>T ENST00000380433.3 + 2 296 c.68C>T c.(67-69)cCc>cTc p.P23L NM_053049.2 NP_444277.2 Q969E3 UCN3_HUMAN urocortin 3 23 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 ACAGGCCTCCCCCACAAGTTC 0.617000 8 31 0 0 0.000274275 0 0 ZMYND15 84225 broad.mit.edu 37 17 4647960 4647960 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:4647960C>T ENST00000433935.1 + 11 1781 c.1724C>T c.(1723-1725)tCa>tTa p.S575L ZMYND15_ENST00000573751.2_Missense_Mutation_p.S575L|ZMYND15_ENST00000592813.1_Missense_Mutation_p.S536L|ZMYND15_ENST00000269289.6_Missense_Mutation_p.S536L NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 536 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 TCCGGCATATCAGCACGGCCC 0.632000 18 29 0 0 7.07596e-05 0 0 FAM167A 83648 broad.mit.edu 37 8 11301725 11301725 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:11301725C>T ENST00000284486.4 - 2 734 c.196G>A c.(196-198)Gag>Aag p.E66K FAM167A_ENST00000528897.1_Missense_Mutation_p.E66K|FAM167A_ENST00000534308.1_Missense_Mutation_p.E66K NM_053279.2 NP_444509.2 Q96KS9 F167A_HUMAN family with sequence similarity 167, member A 66 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 GCCTGTGGCTCCGCAGCCGGC 0.697000 5 38 0 0 1.23904e-05 0 0 PKD1L1 168507 broad.mit.edu 37 7 47944918 47944918 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:47944918G>A ENST00000289672.2 - 11 1577 c.1527C>T c.(1525-1527)gtC>gtT p.V509V NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 509 PKD 1. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGTAGACAGAGACGGCTGTGG 0.443000 56 47 0 0 0.000147903 0 0 TENM4 26011 broad.mit.edu 37 11 78443359 78443359 + Splice_Site SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:78443359A>G ENST00000278550.7 - 21 3601 c.e21+1 NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 AAAGCTGGGTACCTGAATTTC 0.517000 4 50 0 0 1.23904e-05 0 0 PBLD 64081 broad.mit.edu 37 10 70044013 70044013 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:70044013C>T ENST00000358769.2 - 10 990 c.788G>A c.(787-789)gGa>gAa p.G263E PBLD_ENST00000309049.4_Missense_Mutation_p.G263E|PBLD_ENST00000336578.1_Missense_Mutation_p.G230E NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 263 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 AAGGGAAATTCCCAGCTCTCC 0.443000 19 68 0 0 0.000375601 0 0 FAM135B 51059 broad.mit.edu 37 8 139164878 139164878 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:139164878C>T ENST00000395297.1 - 13 2010 c.1840G>A c.(1840-1842)Gaa>Aaa p.E614K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 614 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) GTACTTAATTCATGGAGAGTT 0.453000 HNSCC(54;0.14) 18 136 0 0 0.000132079 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871668 63871668 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:63871668A>C ENST00000334025.2 + 3 726 c.400A>C c.(400-402)Atg>Ctg p.M134L RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 134 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CTGCTTAGAAATGTATACCAC 0.428000 15 45 0 0 0.000422831 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144916572 144916572 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:144916572C>T ENST00000529945.1 - 9 2711 c.2272G>A c.(2272-2274)Gag>Aag p.E758K PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E732K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E595K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E382K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E595K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E595K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E758K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E732K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E595K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E661K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 595 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGTCTTGCCTCCACTTCTTTG 0.423000 T PDGFRB MPD 185 832 0 0 0.000147903 0 0 NLRP10 338322 broad.mit.edu 37 11 7982175 7982175 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:7982175G>A ENST00000328600.2 - 2 1145 c.984C>T c.(982-984)ttC>ttT p.F328F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 328 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCTCATCCGTGAAATAGGAGC 0.502000 13 75 0 0 0.00010058 0 0 FAAH 2166 broad.mit.edu 37 1 46871413 46871413 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:46871413C>T ENST00000243167.8 + 5 816 c.732C>T c.(730-732)ttC>ttT p.F244F FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 244 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GCATCCGCTTCCCCTCCTCCT 0.667000 11 37 0 0 0.000151284 0 0 LCK 3932 broad.mit.edu 37 1 32740503 32740503 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:32740503C>T ENST00000373564.3 + 2 271 c.271C>T c.(271-273)Ccc>Tcc p.P91S LCK_ENST00000336890.5_Intron|LCK_ENST00000333070.4_Intron P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 200 SH3. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CTACTTTCTCCCCGGTCTTGC 0.612000 T TRB@ T-ALL 4 15 0 0 0.00024832 0 0 L1CAM 3897 broad.mit.edu 37 X 153133825 153133825 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:153133825G>A ENST00000370060.1 - 14 1824 c.1635C>T c.(1633-1635)ccC>ccT p.P545P L1CAM_ENST00000361981.3_Silent_p.P540P|L1CAM_ENST00000361699.4_Silent_p.P545P|L1CAM_ENST00000543994.1_Silent_p.P547P|L1CAM_ENST00000370057.3_Silent_p.P545P|L1CAM_ENST00000370055.1_Silent_p.P540P|L1CAM_ENST00000538883.1_Silent_p.P547P NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 545 Ig-like C2-type 6. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTGCAAGGAGGGGTCAAAGG 0.597000 24 38 0 0 0.000227799 0 0 TENM1 10178 broad.mit.edu 37 X 123775834 123775834 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:123775834G>A ENST00000422452.2 - 11 1947 c.1884C>T c.(1882-1884)tgC>tgT p.C628C TENM1_ENST00000371130.3_Silent_p.C628C NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTGGGTCTAGGCAGTCCTCTG 0.453000 25 42 0 0 9.22233e-05 0 0 MALAT1 378938 broad.mit.edu 37 11 65267942 65267942 + RNA SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:65267942T>A ENST00000534336.1 + 0 2710 NR_002819.2 CAGTGTTTGATGAAGCTAGGA 0.493000 6 69 0 0 8.12818e-05 0 0 CHL1 10752 broad.mit.edu 37 3 367644 367644 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:367644C>T ENST00000256509.2 + 4 736 c.94C>T c.(94-96)Caa>Taa p.Q32* CHL1_ENST00000397491.2_Nonsense_Mutation_p.Q32* NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 32 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATATTTAGTTCAACAGGTTCC 0.323000 5 14 0 0 3.59834e-05 0 0 SCAND3 114821 broad.mit.edu 37 6 28539813 28539813 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:28539813T>C ENST00000452236.2 - 4 4470 c.3853A>G c.(3853-3855)Agt>Ggt p.S1285G NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1285 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ttaataacacttaaagtagag 0.348000 15 35 0 0 0.000422831 0 0 FAM83F 113828 broad.mit.edu 37 22 40425519 40425519 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:40425519G>A ENST00000333407.5 + 5 1547 c.e5-1 FAM83F_ENST00000473717.1_Splice_Site NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TGCCTCTGCAGGTAAAACAAG 0.567000 5 18 0 0 8.12818e-05 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1811260 1811260 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:1811260C>T ENST00000250894.4 + 13 1647 c.1490C>T c.(1489-1491)cCc>cTc p.P497L MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P491L NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 497 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CGCCGTGAACCCAAAGAAGAG 0.582000 14 67 0 0 7.07596e-05 0 0 TKTL1 8277 broad.mit.edu 37 X 153555954 153555954 + Silent SNP C C A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:153555954C>A ENST00000369915.3 + 11 1608 c.1419C>A c.(1417-1419)gtC>gtA p.V473V TKTL1_ENST00000217905.7_Silent_p.V213V|TKTL1_ENST00000369912.2_Silent_p.V417V|TKTL1_ENST00000482044.1_3'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 473 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCACTGTGTCAGTGACAAGG 0.483000 18 63 6.94344e-10 1.4569e-08 7.07596e-05 1 0 AIM1 202 broad.mit.edu 37 6 106969113 106969113 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:106969113G>A ENST00000369066.3 + 2 3293 c.2806G>A c.(2806-2808)Gat>Aat p.D936N NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 936 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGAAGATCTGGATTCACGAAG 0.363000 16 41 0 0 0.000308642 0 0 OLFM3 118427 broad.mit.edu 37 1 102312496 102312496 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:102312496G>A ENST00000338858.5 - 1 33 c.34C>T c.(34-36)Ctt>Ttt p.L12F OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.L12F|OLFM3_ENST00000370103.4_Intron Q96PB7 NOE3_HUMAN olfactomedin 3 12 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) ATGGTACTAAGCACAGCGCCA 0.532000 14 61 0 0 7.07596e-05 0 0 PLCB3 5331 broad.mit.edu 37 11 64024120 64024120 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:64024120A>G ENST00000540288.1 + 10 999 c.896A>G c.(895-897)tAc>tGc p.Y299C PLCB3_ENST00000279230.6_Missense_Mutation_p.Y299C|PLCB3_ENST00000325234.5_Missense_Mutation_p.Y232C NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 299 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 TTTAGCCGCTACCTGGGAGGC 0.632000 7 23 0 0 0.000274275 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57069397 57069397 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:57069397G>A ENST00000532437.1 - 8 5166 c.4855C>T c.(4855-4857)Cca>Tca p.P1619S TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P1619S Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1619 Arg/Glu/Lys-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) TCTGAAGATGGCACCCGAGAT 0.597000 9 24 0 0 0.000274275 0 0 CNTN5 53942 broad.mit.edu 37 11 100169974 100169974 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:100169974G>A ENST00000524871.1 + 20 2756 c.2466G>A c.(2464-2466)aaG>aaA p.K822K CNTN5_ENST00000528682.1_Silent_p.K822K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Silent_p.K822K|CNTN5_ENST00000418526.2_Silent_p.K748K|CNTN5_ENST00000279463.3_Silent_p.K822K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 822 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GTGGCTGGAAGGAAAAAATGG 0.408000 4 6 0 0 0.00024832 0 0 NPAP1 23742 broad.mit.edu 37 15 24924379 24924379 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:24924379G>C ENST00000329468.2 + 1 3839 c.3365G>C c.(3364-3366)tGc>tCc p.C1122S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTTCAACAGTGCATCCTGCAG 0.473000 23 81 0 0 0.00047179 0 0 RADIL 55698 broad.mit.edu 37 7 4917258 4917258 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:4917258C>T ENST00000399583.3 - 2 700 c.513G>A c.(511-513)aaG>aaA p.K171K RADIL_ENST00000536091.1_Silent_p.K171K NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 171 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) TGTCCACCTCCTTGGCTGCCA 0.602000 29 40 0 0 0.000491102 0 0 WDR35 57539 broad.mit.edu 37 2 20173356 20173356 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:20173356T>C ENST00000345530.3 - 8 965 c.850A>G c.(850-852)Aac>Gac p.N284D WDR35_ENST00000416055.2_5'UTR|WDR35_ENST00000281405.4_Missense_Mutation_p.N284D NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 284 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCACAATGTTCACATCTTTG 0.443000 41 28 0 0 0.000106405 0 0 KIAA1324 57535 broad.mit.edu 37 1 109714493 109714493 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:109714493A>G ENST00000369939.3 + 4 656 c.473A>G c.(472-474)aAg>aGg p.K158R KIAA1324_ENST00000529753.1_Missense_Mutation_p.K158R NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 158 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CACAGGTCCAAGTGGGTTCCC 0.567000 20 216 0 0 0.000175454 0 0 APOL3 80833 broad.mit.edu 37 22 36537413 36537413 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:36537413G>A ENST00000424878.2 - 4 2592 c.444C>T c.(442-444)ttC>ttT p.F148F APOL3_ENST00000361710.2_Silent_p.F148F|APOL3_ENST00000397293.2_Silent_p.F277F|APOL3_ENST00000397287.2_Silent_p.F148F|APOL3_ENST00000349314.2_Silent_p.F348F O95236 APOL3_HUMAN apolipoprotein L, 3 348 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 CCAGTGCAAGGAAGATGCCTG 0.582000 17 80 0 0 0.000132079 0 0 EMC2 9694 broad.mit.edu 37 8 109489041 109489041 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:109489041C>T ENST00000220853.3 + 9 657 c.622C>T c.(622-624)Ctc>Ttc p.L208F EMC2_ENST00000520294.1_3'UTR NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 ACTTGAAAACCTCGAACTTTC 0.338000 7 25 0 0 8.12818e-05 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217799 150217799 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:150217799A>C ENST00000313543.4 + 2 894 c.737A>C c.(736-738)aAg>aCg p.K246T NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 246 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGGAAGAAAAGGAGAAAGaa 0.269000 9 35 0 0 0.000274275 0 0 TBC1D5 9779 broad.mit.edu 37 3 17300077 17300077 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:17300077G>A ENST00000253692.7 - 16 2916 c.1252C>T c.(1252-1254)Cca>Tca p.P418S TBC1D5_ENST00000429383.4_Missense_Mutation_p.P418S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P418S|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P370S|TBC1D5_ENST00000414318.2_5'UTR NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 418 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 ACTGGTCTTGGATTTCTCTAA 0.318000 105 81 0 0 0.000147903 0 0 TGFBR1 7046 broad.mit.edu 37 9 101907069 101907069 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:101907069G>A ENST00000374994.4 + 6 1146 c.1029G>A c.(1027-1029)aaG>aaA p.K343K TGFBR1_ENST00000552516.1_Silent_p.K347K|TGFBR1_ENST00000550253.1_Silent_p.K274K|TGFBR1_ENST00000374990.2_Silent_p.K266K NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 343 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) TGGTAAAGAAGAATGGAACTT 0.368000 20 41 0 0 0.000132079 0 0 OR10A4 283297 broad.mit.edu 37 11 6898300 6898300 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:6898300C>T ENST00000379829.2 + 1 445 c.422C>T c.(421-423)tCc>tTc p.S141F NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGCCACATATCCTGTGCCCAG 0.562000 8 16 0 0 0.000442599 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925079 54925079 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:54925079G>A ENST00000293373.6 + 23 2621 c.2542G>A c.(2542-2544)Ggc>Agc p.G848S NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G798S NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 848 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GGGCCCCTATGGCATGAAGTT 0.512000 26 145 0 0 0.000491102 0 0 PPP4R4 57718 broad.mit.edu 37 14 94741753 94741753 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:94741753C>T ENST00000304338.3 + 24 2646 c.2492C>T c.(2491-2493)tCc>tTc p.S831F NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 831 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 GTTCCATCTTCCTTTTCTCCT 0.438000 12 51 0 0 0.000219431 0 0 HCN1 348980 broad.mit.edu 37 5 45267329 45267329 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:45267329G>A ENST00000303230.4 - 7 1702 c.1645C>T c.(1645-1647)Cgt>Tgt p.R549C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 549 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTGGCAGTACGACGTCCTTTG 0.408000 18 86 0 0 0.000132079 0 0 RASGRF1 5923 broad.mit.edu 37 15 79265721 79265721 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:79265721G>A ENST00000419573.3 - 26 3858 c.3584C>T c.(3583-3585)aCc>aTc p.T1195I RASGRF1_ENST00000394745.3_Missense_Mutation_p.T411I|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T1179I NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1197 Ras-GEF. 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 GGCCAGGTCGGTGAGGTACAT 0.527000 8 40 0 0 0.000274275 0 0 EPHX4 253152 broad.mit.edu 37 1 92528792 92528792 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:92528792G>A ENST00000370383.4 + 7 1136 c.1038G>A c.(1036-1038)gtG>gtA p.V346V NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 346 integral to membrane hydrolase activity p.V346V(1) central_nervous_system(1)|large_intestine(3)|lung(8) 12 CTGACATAGTGAACAAATTGA 0.318000 23 82 0 0 9.22233e-05 0 0 HEMGN 55363 broad.mit.edu 37 9 100693459 100693459 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:100693459C>T ENST00000259456.3 - 4 361 c.218G>A c.(217-219)cGa>cAa p.R73Q NM_018437.3|NM_197978.2 NP_060907.2|NP_932095.1 Q9BXL5 HEMGN_HUMAN hemogen 73 Necessary for nuclear localization. cell differentiation|multicellular organismal development p.R73Q(1) NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(62;0.0559) TCTGCCTCTTCGATTTCCTTT 0.413000 54 65 0 0 0.000147903 0 0 IL7R 3575 broad.mit.edu 37 5 35875642 35875642 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:35875642C>T ENST00000303115.3 + 7 958 c.829C>T c.(829-831)Ccc>Tcc p.P277S IL7R_ENST00000506850.1_Silent_p.S245S|IL7R_ENST00000343305.4_Silent_p.S245S NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 277 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GCCCAGTCTCCCCGATCATAA 0.438000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 25 22 0 0 0.000227799 0 0 ASMT 438 broad.mit.edu 37 X 1746618 1746618 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:1746618G>A ENST00000381241.3 + 4 596 c.397G>A c.(397-399)Gag>Aag p.E133K ASMT_ENST00000381229.4_Missense_Mutation_p.E133K|ASMT_ENST00000381233.3_Missense_Mutation_p.E133K NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 133 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CCAGTACCTGGAGACGTTTGG 0.368000 55 168 0 0 0.000147903 0 0 BMP2 650 broad.mit.edu 37 20 6759494 6759494 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:6759494C>T ENST00000378827.4 + 3 2168 c.949C>T c.(949-951)Ccc>Tcc p.P317S NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 317 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) GATTGTGGCTCCCCCGGGGTA 0.512000 10 47 0 0 6.40141e-05 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692855 23692855 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:23692855C>T ENST00000397312.2 - 7 1054 c.780G>A c.(778-780)atG>atA p.M260I ELAVL2_ENST00000380117.1_Missense_Mutation_p.M260I|ELAVL2_ENST00000223951.6_Missense_Mutation_p.M247I|ELAVL2_ENST00000544538.1_Missense_Mutation_p.M260I|ELAVL2_ENST00000380110.4_Missense_Mutation_p.M290I NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 260 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CCAAACTGGTCATTCCGTCAA 0.433000 9 28 0 0 0.000442599 0 0 RGL4 266747 broad.mit.edu 37 22 24034999 24034999 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:24034999G>A ENST00000290691.5 + 3 1687 c.517G>A c.(517-519)Ggg>Agg p.G173R GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.G37R NM_153615.1 NP_705843.1 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator-like 4 173 Pro-rich. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 TTCAGCACCAGGGCCAGCACC 0.647000 OREG0007113 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=Rgr|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 38 32 0 0 0.000509022 0 0 SOX6 55553 broad.mit.edu 37 11 15994523 15994523 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:15994523G>A ENST00000352083.6 - 16 2396 c.2319C>T c.(2317-2319)ctC>ctT p.L773L SOX6_ENST00000528429.1_Silent_p.L773L|SOX6_ENST00000528252.1_Silent_p.L746L|SOX6_ENST00000316399.6_Silent_p.L753L|SOX6_ENST00000396356.3_Silent_p.L753L|SOX6_ENST00000527619.1_Silent_p.L749L P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 773 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GGATGACCGGGAGGCTGGGCT 0.507000 20 26 0 0 0.00047179 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307161 39307161 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:39307161C>T ENST00000541347.1 - 2 1079 c.840G>A c.(838-840)acG>acA p.T280T CX3CR1_ENST00000399220.2_Silent_p.T280T|CX3CR1_ENST00000358309.3_Silent_p.T312T|CX3CR1_ENST00000542107.1_Silent_p.T280T NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 280 T -> M (common polymorphism in Caucasian population; dbSNP:rs3732378). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TAAATGCAACCGTCTCAGTCA 0.473000 41 78 0 0 0.000147903 0 0 ADCY1 107 broad.mit.edu 37 7 45725619 45725619 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:45725619C>T ENST00000297323.7 + 13 2154 c.2132C>T c.(2131-2133)tCg>tTg p.S711L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 711 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGGTCCTTTCGTCTGGGGGC 0.657000 16 16 0 0 0.000422831 0 0 SLC22A6 9356 broad.mit.edu 37 11 62748549 62748549 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:62748549C>T ENST00000377871.3 - 6 1211 c.945G>A c.(943-945)aaG>aaA p.K315K SLC22A6_ENST00000360421.4_Silent_p.K315K|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Silent_p.K315K|SLC22A6_ENST00000458333.2_Silent_p.K315K NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 315 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TGGTCAGCTCCTTCTGCAGAC 0.652000 4 27 0 0 0.00024832 0 0 COL6A6 131873 broad.mit.edu 37 3 130284128 130284128 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:130284128G>A ENST00000358511.6 + 3 983 c.952G>A c.(952-954)Gaa>Aaa p.E318K COL6A6_ENST00000453409.2_Missense_Mutation_p.E318K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 318 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCTCAGGAAGGAAGTTTTTAG 0.507000 12 69 0 0 6.40141e-05 0 0 EGF 1950 broad.mit.edu 37 4 110865147 110865147 + Missense_Mutation SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:110865147A>G ENST00000265171.5 + 4 1104 c.659A>G c.(658-660)aAc>aGc p.N220S EGF_ENST00000509793.1_Missense_Mutation_p.N220S|EGF_ENST00000503392.1_Missense_Mutation_p.N220S NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 220 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATTCAGTACAACAGAGAAGGA 0.413000 29 38 0 0 0.000147802 0 0 LYVE1 10894 broad.mit.edu 37 11 10585914 10585914 + Silent SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:10585914G>T ENST00000256178.3 - 2 251 c.93C>A c.(91-93)tcC>tcA p.S31S MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000529598.1_Intron NM_006691.3 NP_006682.2 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 1 31 anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) ACACCTGGATGGAAAGCTCTG 0.507000 5 33 2.7689e-08 5.78588e-07 8.12818e-05 1 0 MBD5 55777 broad.mit.edu 37 2 149247902 149247902 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:149247902C>T ENST00000407073.1 + 12 4999 c.4002C>T c.(4000-4002)atC>atT p.I1334I MBD5_ENST00000404807.1_Silent_p.I1567I NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1334 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AAGACTACATCCATTACAATG 0.443000 13 26 0 0 0.000151284 0 0 ASTN2 23245 broad.mit.edu 37 9 119567924 119567924 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:119567924G>A ENST00000313400.4 - 13 2483 c.2383C>T c.(2383-2385)Cag>Tag p.Q795* ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Q744*|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Q791* O75129 ASTN2_HUMAN astrotactin 2 795 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 AAGGTCATCTGGAAGACTTGG 0.488000 17 53 0 0 9.7654e-05 0 0 DNAH1 25981 broad.mit.edu 37 3 52361988 52361988 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:52361988C>T ENST00000420323.2 + 6 1090 c.829C>T c.(829-831)Ccg>Tcg p.P277S NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 277 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAAACCTGTCCCGGGAAAAGC 0.552000 8 16 0 0 0.000274275 0 0 CDH6 1004 broad.mit.edu 37 5 31267592 31267592 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:31267592C>T ENST00000265071.2 + 2 277 c.12C>T c.(10-12)taC>taT p.Y4Y CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 4 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGAGAACTTACCGCTACTTCT 0.532000 13 41 0 0 0.000308642 0 0 PLCB4 5332 broad.mit.edu 37 20 9388582 9388582 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:9388582G>A ENST00000378501.2 + 18 1645 c.1630G>A c.(1630-1632)Gat>Aat p.D544N PLCB4_ENST00000414679.2_Missense_Mutation_p.D556N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D544N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D544N|PLCB4_ENST00000378473.3_Missense_Mutation_p.D556N|PLCB4_ENST00000278655.4_Missense_Mutation_p.D544N NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 544 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CACTGTAGAAGATGAGCAGGC 0.428000 18 84 0 0 0.000229342 0 0 SPDEF 25803 broad.mit.edu 37 6 34512073 34512073 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:34512073C>T ENST00000374037.3 - 2 574 c.160G>A c.(160-162)Ggc>Agc p.G54S SPDEF_ENST00000544425.1_Missense_Mutation_p.G54S NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 54 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 GCGGACAGGCCCTGCTCGGGC 0.682000 6 50 0 0 0.000442599 0 0 C9orf84 158401 broad.mit.edu 37 9 114449059 114449059 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:114449059C>T ENST00000394779.3 - 24 4453 c.4209G>A c.(4207-4209)agG>agA p.R1403R C9orf84_ENST00000318737.4_Silent_p.R1442R|C9orf84_ENST00000394777.4_Silent_p.R1368R|C9orf84_ENST00000374287.3_Silent_p.R1442R NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 1442 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTCAAAAAAACCTCAGCCGAG 0.388000 20 79 0 0 0.000375601 0 0 OR8U1 219417 broad.mit.edu 37 11 56143797 56143797 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:56143797G>A ENST00000302270.1 + 1 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 p.G233V(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TCAGCTGAGGGAAGACAGAAG 0.463000 5 29 0 0 8.12818e-05 0 0 SELE 6401 broad.mit.edu 37 1 169695945 169695945 + Missense_Mutation SNP G G A rs3917429 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:169695945G>A ENST00000333360.7 - 11 1787 c.1648C>T c.(1648-1650)Ccc>Tcc p.P550S C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.P487S|SELE_ENST00000367780.4_Missense_Mutation_p.P425S|SELE_ENST00000367777.1_Missense_Mutation_p.P487S|SELE_ENST00000367775.1_Missense_Mutation_p.P425S|SELE_ENST00000367774.1_Missense_Mutation_p.P424S|SELE_ENST00000367776.1_Missense_Mutation_p.P487S|SELE_ENST00000367782.4_Missense_Mutation_p.P487S|SELE_ENST00000367779.4_Missense_Mutation_p.P424S NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 550 P -> S (in dbSNP:rs3917429). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GACTCAGTGGGAGCTAAGGAA 0.463000 8 10 0 0 0.000274275 0 0 FOXI1 2299 broad.mit.edu 37 5 169533060 169533060 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:169533060G>A ENST00000449804.2 + 1 144 c.99G>A c.(97-99)gaG>gaA p.E33E FOXI1_ENST00000306268.6_Silent_p.E33E NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 33 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.E33D(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTACTATGAGAACTTCTTCC 0.677000 Pendred syndrome 4 30 0 0 3.59834e-05 0 0 ADCK4 79934 broad.mit.edu 37 19 41198219 41198219 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:41198219C>T ENST00000324464.3 - 15 1657 c.1356G>A c.(1354-1356)caG>caA p.Q452Q ADCK4_ENST00000243583.6_Silent_p.Q411Q|ADCK4_ENST00000450541.1_Silent_p.Q411Q NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 452 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) CATAAGGGCCCTGGGTGGCGA 0.672000 4 23 0 0 8.12818e-05 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120312852 120312852 + Missense_Mutation SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:120312852T>C ENST00000397843.2 + 15 1409 c.1243T>C c.(1243-1245)Tcc>Ccc p.S415P ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S396P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S312P NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 415 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ACATACCAATTCCAAAGAAAC 0.358000 T MLL AML 10 25 0 0 0.00010058 0 0 SULF2 55959 broad.mit.edu 37 20 46307506 46307506 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:46307506G>A ENST00000359930.4 - 8 1958 c.1107C>T c.(1105-1107)atC>atT p.I369I SULF2_ENST00000467815.1_Silent_p.I369I|SULF2_ENST00000484875.1_Silent_p.I369I|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.I369I NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 369 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CAATGTCCAGGATGGTGGGGG 0.617000 43 86 0 0 0.000147903 0 0 MAP2 4133 broad.mit.edu 37 2 210518038 210518038 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:210518038C>T ENST00000360351.4 + 4 650 c.144C>T c.(142-144)ttC>ttT p.F48F MAP2_ENST00000361559.4_Silent_p.F48F|MAP2_ENST00000392194.1_Silent_p.F48F|MAP2_ENST00000447185.1_Silent_p.F48F|MAP2_ENST00000199940.6_Silent_p.F48F NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 48 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CCAATGGATTCCCATACAGGG 0.537000 8 11 0 0 0.000442599 0 0 TAGAP 117289 broad.mit.edu 37 6 159458044 159458044 + Silent SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:159458044G>T ENST00000367066.3 - 10 1342 c.1011C>A c.(1009-1011)gcC>gcA p.A337A RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Silent_p.A159A|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 337 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CAGCAGCTGTGGCCATGGGCA 0.627000 11 61 1.5842e-08 3.31376e-07 0.000151284 1 0 SAMD9 54809 broad.mit.edu 37 7 92735364 92735364 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:92735364T>A ENST00000379958.2 - 3 316 c.47A>T c.(46-48)aAa>aTa p.K16I NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 16 SAM. cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TACATCCTCTTTTGTCCAATC 0.318000 38 145 0 0 0.000106405 0 0 COL1A2 1278 broad.mit.edu 37 7 94038674 94038674 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:94038674C>T ENST00000297268.6 + 17 1304 c.833C>T c.(832-834)cCc>cTc p.P278L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 278 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTGCTGGTCCCGCCGGTCCC 0.468000 HNSCC(75;0.22) 69 66 0 0 0.000147903 0 0 SYT7 9066 broad.mit.edu 37 11 61300491 61300491 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:61300491G>A ENST00000263846.4 - 4 648 c.321C>T c.(319-321)ctC>ctT p.L107L SYT7_ENST00000535826.1_Silent_p.L226L|SYT7_ENST00000539008.1_Silent_p.L390L|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Silent_p.L151L|SYT7_ENST00000542670.1_Silent_p.L315L|SYT7_ENST00000540677.1_Silent_p.L182L NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 107 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GGGAGTTGACGAGGTCTGAGA 0.647000 12 63 0 0 0.000219431 0 0 DCTN4 51164 broad.mit.edu 37 5 150112977 150112977 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:150112977G>A ENST00000447998.2 - 5 605 c.490C>T c.(490-492)Cgc>Tgc p.R164C DCTN4_ENST00000424236.1_Missense_Mutation_p.R107C|DCTN4_ENST00000521093.1_5'UTR|DCTN4_ENST00000446090.2_Missense_Mutation_p.R164C NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 164 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTTTCTTGCGATCTCGCTCA 0.398000 27 94 0 0 8.91981e-05 0 0 TTLL6 284076 broad.mit.edu 37 17 46865189 46865189 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:46865189G>A ENST00000393382.3 - 11 1714 c.1573C>T c.(1573-1575)Cgg>Tgg p.R525W TTLL6_ENST00000433608.2_Missense_Mutation_p.R218W NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 477 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TACTCCTCCCGAGCCCTGGAA 0.532000 27 46 0 0 0.000339439 0 0 TRIB2 28951 broad.mit.edu 37 2 12863439 12863439 + Silent SNP T T C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:12863439T>C ENST00000155926.4 + 2 1743 c.324T>C c.(322-324)tcT>tcC p.S108S TRIB2_ENST00000405331.3_Silent_p.S108S|TRIB2_ENST00000381465.2_5'UTR NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 108 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTTGCCTGTCTGCTCATAGTA 0.468000 25 12 0 0 0.000117367 0 0 SNHG14 104472715 broad.mit.edu 37 15 25467413 25467413 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:25467413C>T ENST00000424208.1 + 0 3147 SNHG14_ENST00000453082.2_RNA NR_003305.1 CTTCCTGGTTCCCTGGTCTCT 0.602000 7 6 0 0 8.12818e-05 0 0 SCN10A 6336 broad.mit.edu 37 3 38798246 38798246 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:38798246C>T ENST00000449082.2 - 9 1208 c.1209G>A c.(1207-1209)caG>caA p.Q403Q NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 403 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTGCCTGGTTCTGCTCCTCAT 0.483000 10 144 0 0 0.000442599 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066874 18066874 + Missense_Mutation SNP C C G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:18066874C>G ENST00000506618.2 - 1 612 c.532G>C c.(532-534)Gtg>Ctg p.V178L NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 178 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) ATGGAGGTCACTCTTTTAGCT 0.463000 39 57 0 0 0.000228196 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153407 133153407 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:133153407C>T ENST00000388996.4 - 10 1854 c.1434G>A c.(1432-1434)atG>atA p.M478I KCNQ3_ENST00000521134.1_Missense_Mutation_p.M358I|KCNQ3_ENST00000519445.1_Missense_Mutation_p.M478I NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 478 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CGTAGGCTTTCATGCGGAAGG 0.478000 49 131 0 0 0.000147903 0 0 SERGEF 26297 broad.mit.edu 37 11 18017361 18017361 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:18017361C>T ENST00000265965.5 - 6 755 c.604G>A c.(604-606)Gaa>Aaa p.E202K SERGEF_ENST00000528200.1_Missense_Mutation_p.E202K|SERGEF_ENST00000532265.1_Missense_Mutation_p.E88K NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 202 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CTGCTTGGTTCCTTTGCTGTG 0.463000 5 10 0 0 1.23904e-05 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102477202 102477202 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:102477202C>T ENST00000360184.4 + 32 6695 c.6531C>T c.(6529-6531)gcC>gcT p.A2177A NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 2177 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 AGATGACTGCCCTTCGAGAGG 0.517000 11 71 0 0 6.40141e-05 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925404 6925404 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:6925404C>T ENST00000409757.4 + 2 412 c.288C>T c.(286-288)atC>atT p.I96I TBC1D14_ENST00000448507.1_Silent_p.I96I NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 96 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CCGACCTCATCCCCGAGCGGG 0.672000 11 88 0 0 0.000219431 0 0 MAGI2 9863 broad.mit.edu 37 7 77807405 77807405 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:77807405C>T ENST00000354212.4 - 14 2579 c.2326G>A c.(2326-2328)Gaa>Aaa p.E776K MAGI2_ENST00000419488.1_Missense_Mutation_p.E762K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E776K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 776 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACATCCAATTCCTTATAATCT 0.438000 72 36 0 0 0.000147903 0 0 ZBBX 79740 broad.mit.edu 37 3 167031813 167031813 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:167031813A>C ENST00000392766.2 - 16 1706 c.1366T>G c.(1366-1368)Tta>Gta p.L456V ZBBX_ENST00000455345.2_Missense_Mutation_p.L456V|ZBBX_ENST00000307529.5_Missense_Mutation_p.L456V|ZBBX_ENST00000392767.2_Missense_Mutation_p.L456V|ZBBX_ENST00000392764.1_Missense_Mutation_p.L427V NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 456 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CAAAGATTTAAGAAGTCTCTC 0.313000 28 61 0 0 0.000279167 0 0 MASP1 5648 broad.mit.edu 37 3 186980348 186980348 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:186980348G>A ENST00000337774.5 - 3 787 c.398C>T c.(397-399)gCc>gTc p.A133V MASP1_ENST00000392470.2_Missense_Mutation_p.A107V|MASP1_ENST00000392472.2_Missense_Mutation_p.A20V|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.A133V|MASP1_ENST00000169293.6_Missense_Mutation_p.A133V NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 133 CUB 1.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CATGTAGTGGGCATCAAAGCC 0.527000 13 18 0 0 0.000151284 0 0 TARSL2 123283 broad.mit.edu 37 15 102252163 102252163 + Missense_Mutation SNP C C T rs138576200 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:102252163C>T ENST00000335968.3 - 5 948 c.732G>A c.(730-732)atG>atA p.M244I NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 244 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGTAAAGCTCCATGGCCTCCC 0.458000 11 20 0 0 6.40141e-05 0 0 FAM91A1 157769 broad.mit.edu 37 8 124787428 124787428 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:124787428C>T ENST00000334705.7 + 3 445 c.199C>T c.(199-201)Ctg>Ttg p.L67L FAM91A1_ENST00000521166.1_Silent_p.L67L NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 67 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) CTATGAGGAACTGCTAAAGTA 0.363000 8 68 0 0 0.000157383 0 0 ADRB2 154 broad.mit.edu 37 5 148206853 148206853 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:148206853C>T ENST00000305988.4 + 1 698 c.459C>T c.(457-459)atC>atT p.I153I NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 153 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) CCCGGGTGATCATTCTGATGG 0.532000 55 70 0 0 0.000147903 0 0 SCN10A 6336 broad.mit.edu 37 3 38793780 38793780 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:38793780G>A ENST00000449082.2 - 11 1684 c.1685C>T c.(1684-1686)tCc>tTc p.S562F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 562 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCATGCCTGGAGTCAGGGTT 0.607000 10 62 0 0 3.86212e-05 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250010 140250010 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:140250010C>T ENST00000398640.2 + 1 1322 c.1322C>T c.(1321-1323)tCc>tTc p.S441F PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGGGTATCCGTGGAGGTG 0.637000 24 76 0 0 0.00047179 0 0 VCAN 1462 broad.mit.edu 37 5 82835754 82835754 + Missense_Mutation SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:82835754T>G ENST00000265077.3 + 8 7497 c.6932T>G c.(6931-6933)gTt>gGt p.V2311G VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V1324G|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2311 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) GCAAAAGAAGTTGGACCACTC 0.388000 7 45 0 0 0.000274275 0 0 TMEM59 9528 broad.mit.edu 37 1 54506432 54506432 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:54506432G>A ENST00000371344.1 - 3 1730 c.311C>T c.(310-312)tCt>tTt p.S104F TMEM59_ENST00000371341.1_Missense_Mutation_p.S104F|TMEM59_ENST00000371348.1_Missense_Mutation_p.S104F|TMEM59_ENST00000234831.5_Missense_Mutation_p.S235F Q9BXS4 TMM59_HUMAN transmembrane protein 59 235 Golgi membrane|integral to membrane kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 TACATACAGAGAGAGGCATCT 0.318000 34 221 0 0 0.000159656 0 0 SAMD9 54809 broad.mit.edu 37 7 92731165 92731165 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:92731165G>A ENST00000379958.2 - 3 4515 c.4246C>T c.(4246-4248)Cga>Tga p.R1416* NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1416 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AAGACTTCTCGAAGCTGATCT 0.373000 17 175 0 0 0.000132079 0 0 CD22 933 broad.mit.edu 37 19 35832709 35832709 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:35832709C>T ENST00000085219.5 + 9 1942 c.1876C>T c.(1876-1878)Cac>Tac p.H626Y CD22_ENST00000270311.6_Missense_Mutation_p.H506Y|CD22_ENST00000544992.2_Missense_Mutation_p.H626Y|CD22_ENST00000419549.2_Missense_Mutation_p.H454Y|CD22_ENST00000536635.2_Missense_Mutation_p.H538Y|CD22_ENST00000594250.1_Missense_Mutation_p.H449Y|CD22_ENST00000341773.6_Missense_Mutation_p.H449Y NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 626 Ig-like C2-type 6. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TCCCGTCTCCCACTACACCTG 0.607000 4 24 0 0 0.00024832 0 0 PCED1B 91523 broad.mit.edu 37 12 47629357 47629357 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:47629357G>A ENST00000546455.1 + 4 1242 c.511G>A c.(511-513)Gaa>Aaa p.E171K PCED1B_ENST00000432328.1_Missense_Mutation_p.E171K PC-esterase domain containing 1B TGTGGGCGAGGAAGTCACCGG 0.617000 14 15 0 0 0.000308642 0 0 SYT10 341359 broad.mit.edu 37 12 33529775 33529775 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:33529775G>A ENST00000228567.3 - 7 1858 c.1562C>T c.(1561-1563)tCc>tTc p.S521F SYT10_ENST00000535526.1_Missense_Mutation_p.S340F NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 521 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTATGGTGTGGAAGGTGGTTT 0.413000 18 104 0 0 0.000229342 0 0 PCSK1 5122 broad.mit.edu 37 5 95757642 95757642 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:95757642C>T ENST00000311106.3 - 5 799 c.562G>A c.(562-564)Gat>Aat p.D188N PCSK1_ENST00000508626.1_Missense_Mutation_p.D141N|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 188 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCATTAAAATCATAGCTAGCC 0.328000 42 165 0 0 0.000125731 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004616 52004616 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:52004616C>T ENST00000291707.3 - 1 427 c.372G>A c.(370-372)gaG>gaA p.E124E NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 124 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TATTTCCTCTCTCTACACAAA 0.478000 34 67 0 0 0.000491102 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664979 176664979 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:176664979C>T ENST00000367662.3 + 7 3894 c.2730C>T c.(2728-2730)acC>acT p.T910T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 910 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GTTATTGGACCCCAGAGGAGG 0.532000 11 17 0 0 0.000151284 0 0 RREB1 6239 broad.mit.edu 37 6 7231105 7231105 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:7231105C>T ENST00000379938.2 + 10 3310 c.2773C>T c.(2773-2775)Ctg>Ttg p.L925L RREB1_ENST00000379933.3_Silent_p.L925L|RREB1_ENST00000334984.6_Silent_p.L925L|RREB1_ENST00000349384.6_Silent_p.L925L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 925 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCTTCTTCCCTGGTCCCCTA 0.562000 7 19 0 0 0.000157383 0 0 MPP2 4355 broad.mit.edu 37 17 41960700 41960700 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:41960700C>T ENST00000269095.4 - 4 478 c.174G>A c.(172-174)acG>acA p.T58T MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000377184.3_Silent_p.T75T|MPP2_ENST00000518766.1_Silent_p.T103T|MPP2_ENST00000536246.1_Silent_p.T47T|MPP2_ENST00000461854.1_Silent_p.T82T|MPP2_ENST00000523501.1_Silent_p.T47T|MPP2_ENST00000473246.1_5'UTR NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 82 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CCTCCAGCTTCGTCTCCTCCA 0.662000 9 12 0 0 6.40141e-05 0 0 DSP 1832 broad.mit.edu 37 6 7580752 7580752 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:7580752G>A ENST00000379802.3 + 23 4670 c.4329G>A c.(4327-4329)agG>agA p.R1443R DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1443 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGTCTCAGAGGAAACAGCAGC 0.498000 6 47 0 0 3.59834e-05 0 0 KRT74 121391 broad.mit.edu 37 12 52961997 52961997 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:52961997C>T ENST00000549343.1 - 8 1391 c.1353G>A c.(1351-1353)atG>atA p.M451I KRT74_ENST00000305620.2_Missense_Mutation_p.M437I Q7RTS7 K2C74_HUMAN keratin 74 437 Tail. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) TGGCAATCTCCATGTCCAGGG 0.642000 6 56 0 0 0.000157383 0 0 BAAT 570 broad.mit.edu 37 9 104124732 104124732 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:104124732G>A ENST00000259407.2 - 4 1343 c.1235C>T c.(1234-1236)cCa>cTa p.P412L BAAT_ENST00000395051.3_Missense_Mutation_p.P412L NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 412 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GGTCACATCTGGAATGAGGTG 0.458000 11 36 0 0 0.000151284 0 0 WDR59 79726 broad.mit.edu 37 16 74946186 74946186 + Silent SNP G G A rs146814017 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:74946186G>A ENST00000262144.6 - 14 1429 c.1299C>T c.(1297-1299)ttC>ttT p.F433F NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 433 RWD. breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 ACTGTGCAGGGAACTTCACCA 0.522000 11 48 0 0 3.86212e-05 0 0 CD180 4064 broad.mit.edu 37 5 66480226 66480226 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:66480226C>T ENST00000256447.4 - 3 602 c.445G>A c.(445-447)Gaa>Aaa p.E149K NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 149 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TCCAAGTTTTCCAGATTGTGC 0.418000 37 126 0 0 0.000374591 0 0 GPR149 344758 broad.mit.edu 37 3 154055716 154055716 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:154055716C>T ENST00000389740.2 - 4 2067 c.1968G>A c.(1966-1968)agG>agA p.R656R NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 656 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGTTTTCTTTCCTGGAGTAAC 0.418000 24 74 0 0 0.000295444 0 0 SOS2 6655 broad.mit.edu 37 14 50649239 50649239 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:50649239A>C ENST00000216373.5 - 6 1074 c.800T>G c.(799-801)aTg>aGg p.M267R SOS2_ENST00000543680.1_Missense_Mutation_p.M267R NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 267 DH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TTCATCAGTCATTTCAACTGT 0.333000 28 53 0 0 0.000491102 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA AGTTCCAGGATATGACTATAA 0.264000 4 125 0 0 1.23904e-05 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692907 187692907 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:187692907C>T ENST00000295131.2 - 9 1745 c.1706G>A c.(1705-1707)aGa>aAa p.R569K NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 569 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TAAAGTTGATCTCTTGTTGTC 0.368000 5 9 0 0 1.23904e-05 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965207 88965207 + Missense_Mutation SNP G G A rs141578416 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:88965207G>A ENST00000333190.4 + 4 3520 c.2911G>A c.(2911-2913)Ggc>Agc p.G971S NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 971 intracellular zinc ion binding p.G971R(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TGCACCATCAGGCTGTAACAG 0.403000 HNSCC(36;0.09) 37 46 0 0 0.000509022 0 0 UBA6 55236 broad.mit.edu 37 4 68566789 68566789 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:68566789A>T ENST00000322244.4 - 1 108 c.49T>A c.(49-51)Tgt>Agt p.C17S UBA6_ENST00000420827.2_Missense_Mutation_p.C17S NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 17 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 CAGGAAGAACAGGACGCCTCT 0.662000 OREG0016213 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 34 0 0 0.000157383 0 0 BRWD1 54014 broad.mit.edu 37 21 40636394 40636394 + Missense_Mutation SNP A A C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:40636394A>C ENST00000342449.3 - 17 1955 c.1877T>G c.(1876-1878)gTg>gGg p.V626G BRWD1_ENST00000380800.3_Missense_Mutation_p.V626G|BRWD1_ENST00000333229.2_Missense_Mutation_p.V626G NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ACTTGTTGCCACATAGCCCAG 0.333000 22 52 0 0 0.000229342 0 0 TTN 7273 broad.mit.edu 37 2 179552913 179552913 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:179552913C>T ENST00000589042.1 - 127 32460 c.32236G>A c.(32236-32238)Gaa>Aaa p.E10746K TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9502K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10429K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10429 Glu-rich.|Pro-rich. 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) GACACACCTTCCTCCTCTTCT 0.383000 29 78 0 0 0.000339439 0 0 TSPAN8 7103 broad.mit.edu 37 12 71526510 71526510 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:71526510G>A ENST00000393330.2 - 10 1091 c.539C>T c.(538-540)cCa>cTa p.P180L TSPAN8_ENST00000552128.1_Missense_Mutation_p.P97L|TSPAN8_ENST00000546561.1_Missense_Mutation_p.P180L|TSPAN8_ENST00000247829.3_Missense_Mutation_p.P180L P19075 TSN8_HUMAN tetraspanin 8 180 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) GCTTTGGCATGGTCTCTGCTT 0.353000 145 177 0 0 0.000147903 0 0 ARL3 403 broad.mit.edu 37 10 104459196 104459196 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:104459196C>T ENST00000260746.5 - 3 329 c.198G>A c.(196-198)tgG>tgA p.W66* NM_004311.3 NP_004302.1 P36405 ARL3_HUMAN ADP-ribosylation factor-like 3 66 cell cycle|cytokinesis|small GTPase mediated signal transduction centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding large_intestine(2) 2 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) CACCAATGTCCCATACATTCA 0.338000 10 26 0 0 3.86212e-05 0 0 ZNF135 7694 broad.mit.edu 37 19 58578489 58578489 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:58578489C>T ENST00000506786.1 + 5 1065 c.511C>T c.(511-513)Ccc>Tcc p.P171S ZNF135_ENST00000439855.2_Missense_Mutation_p.P213S|ZNF135_ENST00000359978.6_Missense_Mutation_p.P225S|ZNF135_ENST00000313434.5_Missense_Mutation_p.P213S|ZNF135_ENST00000401053.4_Missense_Mutation_p.P237S|ZNF135_ENST00000511556.1_Missense_Mutation_p.P225S B4DHH9 B4DHH9_HUMAN zinc finger protein 135 225 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AAAAGAGAAACCCTACAAATG 0.473000 41 44 0 0 0.000228196 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105368372 105368372 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:105368372C>T ENST00000517991.1 + 2 860 c.848C>T c.(847-849)tCc>tTc p.S283F DCSTAMP_ENST00000297581.2_Silent_p.V453V|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron NM_001257317.1 NP_001244246.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 0 osteoclast differentiation cell surface|integral to membrane|plasma membrane GGCTTCCAGTCCTGAAAATGA 0.428000 5 20 0 0 8.12818e-05 0 0 RNF214 257160 broad.mit.edu 37 11 117150966 117150966 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:117150966C>T ENST00000530849.1 + 7 681 c.671C>T c.(670-672)aCt>aTt p.T224I RNF214_ENST00000300650.4_Missense_Mutation_p.T379I|RNF214_ENST00000531452.1_Missense_Mutation_p.T379I|RNF214_ENST00000531287.1_Missense_Mutation_p.T224I Q8ND24 RN214_HUMAN ring finger protein 214 379 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TTGCACCTTACTTACCTCAAG 0.393000 19 90 0 0 0.000175454 0 0 CLCA1 1179 broad.mit.edu 37 1 86961274 86961274 + Missense_Mutation SNP G G A rs148962584 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:86961274G>A ENST00000234701.3 + 13 2380 c.2029G>A c.(2029-2031)Gct>Act p.A677T CLCA1_ENST00000394711.1_Missense_Mutation_p.A677T A8K7I4 CLCA1_HUMAN chloride channel accessory 1 677 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AAAAGTGCGGGCTCTGGGAGG 0.453000 10 36 0 0 3.86212e-05 0 0 C8A 731 broad.mit.edu 37 1 57341833 57341833 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:57341833G>A ENST00000361249.3 + 4 511 c.415G>A c.(415-417)Gac>Aac p.D139N NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 139 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CATTGACGAAGACTGCAGCCA 0.522000 5 28 0 0 1.23904e-05 0 0 PWP2 5822 broad.mit.edu 37 21 45538649 45538649 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr21:45538649C>T ENST00000291576.7 + 9 1113 c.986C>T c.(985-987)tCa>tTa p.S329L NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 329 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TGCAGCATTTCAGATCAGAGC 0.602000 7 16 0 0 0.000274275 0 0 CSHL1 1444 broad.mit.edu 37 17 61987500 61987500 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:61987500G>A ENST00000450719.3 - 3 448 c.211C>T c.(211-213)Ccc>Tcc p.P71S CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.P82S Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CCAGGATTGGGGACCCCTGGT 0.572000 8 30 0 0 0.000442599 0 0 TENM1 10178 broad.mit.edu 37 X 123525962 123525962 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:123525962C>T ENST00000422452.2 - 28 5691 c.5628G>A c.(5626-5628)ggG>ggA p.G1876G TENM1_ENST00000371130.3_Silent_p.G1869G|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AAATAATTTTCCCACTCTGGT 0.363000 6 35 0 0 8.12818e-05 0 0 STC2 8614 broad.mit.edu 37 5 172752981 172752981 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:172752981C>T ENST00000265087.4 - 2 1493 c.184G>A c.(184-186)Gat>Aat p.D62N NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 62 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CACCCCACATCGCCAGCGTTG 0.448000 69 151 0 0 0.000147903 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461023 5461023 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:5461023G>T ENST00000296564.7 + 13 1798 c.1576G>T c.(1576-1578)Ggg>Tgg p.G526W NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 526 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AGCTGCCCCTGGGAAGTCTGA 0.453000 7 167 8.12818e-05 0.00168458 8.12818e-05 1 0 DUOXA1 90527 broad.mit.edu 37 15 45415159 45415159 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:45415159G>A ENST00000558996.1 - 2 108 c.54C>T c.(52-54)ttC>ttT p.F18F DUOXA1_ENST00000267803.4_Silent_p.F18F|DUOXA1_ENST00000430224.2_Silent_p.F18F|DUOXA1_ENST00000558422.1_Silent_p.F18F|DUOXA1_ENST00000559014.1_Silent_p.F18F|DUOXA1_ENST00000560572.1_Silent_p.F18F NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 18 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) TGTCCATCGGGAAGGTTGGCT 0.537000 5 42 0 0 3.59834e-05 0 0 GRB7 2886 broad.mit.edu 37 17 37899513 37899513 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:37899513C>T ENST00000309156.4 + 5 801 c.544C>T c.(544-546)Cgg>Tgg p.R182W GRB7_ENST00000445327.2_Missense_Mutation_p.R205W|GRB7_ENST00000309185.3_Missense_Mutation_p.R182W|GRB7_ENST00000394209.2_Missense_Mutation_p.R182W|GRB7_ENST00000394211.3_Missense_Mutation_p.R182W|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Missense_Mutation_p.R182W NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 182 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTTCGTCTTCCGGAAAAACTT 0.607000 9 47 0 0 0.000274275 0 0 GRM5 2915 broad.mit.edu 37 11 88300835 88300835 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:88300835G>A ENST00000418177.2 - 8 2383 c.2016C>T c.(2014-2016)atC>atT p.I672I GRM5_ENST00000393297.1_Silent_p.I672I|GRM5_ENST00000305432.5_Silent_p.I672I|GRM5_ENST00000455756.2_Silent_p.I672I|GRM5_ENST00000305447.4_Silent_p.I672I P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 672 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TGCCAGCCAGGATCCTTGCAA 0.478000 8 33 0 0 0.000157383 0 0 COPS3 8533 broad.mit.edu 37 17 17168147 17168147 + Missense_Mutation SNP T T A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:17168147T>A ENST00000539941.2 - 6 738 c.530A>T c.(529-531)aAc>aTc p.N177I COPS3_ENST00000439936.2_Missense_Mutation_p.N177I|COPS3_ENST00000268717.5_Missense_Mutation_p.N197I NM_001199125.1 NP_001186054.1 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 197 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TCTTTCAAAGTTCTTCAGCCC 0.358000 48 32 0 0 0.000147903 0 0 OR13C8 138802 broad.mit.edu 37 9 107331487 107331487 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:107331487C>T ENST00000335040.1 + 1 39 c.39C>T c.(37-39)ttC>ttT p.F13F NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CAGAATTTTTCCTGGTAGGGC 0.413000 24 86 0 0 7.16444e-05 0 0 CXorf23 256643 broad.mit.edu 37 X 19948046 19948046 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:19948046C>T ENST00000379687.3 - 10 1909 c.1876G>A c.(1876-1878)Ggt>Agt p.G626S CXorf23_ENST00000379682.4_Missense_Mutation_p.G655S|CXorf23_ENST00000356980.3_3'UTR NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 655 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 CATCTGCCACCTCTAAAGTTG 0.433000 43 59 0 0 0.000147903 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141025 143141025 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:143141025C>T ENST00000332690.1 + 1 480 c.480C>T c.(478-480)ttC>ttT p.F160F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 160 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TTCTATTTTTCATAGGCAACC 0.453000 102 104 0 0 0.000147903 0 0 EPHA6 285220 broad.mit.edu 37 3 97467475 97467475 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:97467475G>A ENST00000389672.5 + 18 3361 c.3323G>A c.(3322-3324)cGa>cAa p.R1108Q NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 1013 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CACCAGAGACGAATAGTCAGC 0.428000 18 25 0 0 0.000229342 0 0 NUMB 8650 broad.mit.edu 37 14 73746042 73746042 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:73746042G>A ENST00000556772.1 - 6 3042 c.755C>T c.(754-756)cCt>cTt p.P252L NUMB_ENST00000544991.3_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.P385L|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000356296.4_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.P385L|NUMB_ENST00000355058.3_Missense_Mutation_p.P396L|NUMB_ENST00000359560.3_Missense_Mutation_p.P385L|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Intron|NUMB_ENST00000555238.1_Missense_Mutation_p.P396L|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000554546.1_Intron P49757 NUMB_HUMAN numb homolog (Drosophila) 396 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) ATGGGCCCAAGGGTTGGTTTC 0.537000 8 62 0 0 0.000157383 0 0 MUC16 94025 broad.mit.edu 37 19 9068327 9068327 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:9068327G>A ENST00000397910.4 - 3 19322 c.19119C>T c.(19117-19119)acC>acT p.T6373T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6375 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTTCTGGGAGGTGCTAGTCT 0.453000 9 25 0 0 3.86212e-05 0 0 SLC17A2 10246 broad.mit.edu 37 6 25923937 25923937 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:25923937C>T ENST00000377850.3 - 3 750 c.226G>A c.(226-228)Gaa>Aaa p.E76K SLC17A2_ENST00000265425.3_Missense_Mutation_p.E76K|SLC17A2_ENST00000360488.3_Missense_Mutation_p.E76K O00624 NPT3_HUMAN solute carrier family 17, member 2 76 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GTATCAAATTCCTTGATGGAT 0.433000 78 110 0 0 0.000147903 0 0 OR10A6 390093 broad.mit.edu 37 11 7950061 7950061 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:7950061G>A ENST00000309838.2 - 1 148 c.149C>T c.(148-150)tCc>tTc p.S50F NM_001004461.1 NP_001004461.1 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, member 6 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTGGTCTAGGGAGACGATGAC 0.463000 9 34 0 0 3.86212e-05 0 0 STON1 11037 broad.mit.edu 37 2 48807936 48807936 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:48807936C>T ENST00000309835.3 + 1 174 c.164C>T c.(163-165)tCc>tTc p.S55F STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S55F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S55F|STON1_ENST00000406226.1_Missense_Mutation_p.S55F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S55F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S55F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S55F|STON1_ENST00000404752.1_Missense_Mutation_p.S55F stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGTGGATCTTCCTCCACCAGC 0.468000 16 37 0 0 5.01169e-05 0 0 NPAP1 23742 broad.mit.edu 37 15 24923207 24923207 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:24923207G>A ENST00000329468.2 + 1 2667 c.2193G>A c.(2191-2193)ggG>ggA p.G731G NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGGTTCTGGGAACACACAAC 0.537000 11 57 0 0 3.86212e-05 0 0 FAM47C 442444 broad.mit.edu 37 X 37027219 37027219 + Missense_Mutation SNP C C T rs148119466 byFrequency TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:37027219C>T ENST00000358047.3 + 1 788 c.736C>T c.(736-738)Ctc>Ttc p.L246F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 246 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGTGTCCCATCTCCGCCCAGA 0.627000 18 5 0 0 0.000132079 0 0 TLR6 10333 broad.mit.edu 37 4 38830970 38830970 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:38830970C>T ENST00000436693.2 - 2 244 c.125G>A c.(124-126)gGt>gAt p.G42D TLR6_ENST00000381950.1_Missense_Mutation_p.G42D NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 42 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATGAATAAGACCTCTTTTTGA 0.393000 33 141 0 0 0.000339439 0 0 ROS1 6098 broad.mit.edu 37 6 117686903 117686903 + Splice_Site SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:117686903C>T ENST00000368508.3 - 19 3012 c.2812_splice c.e19-1 p.G938_splice ROS1_ENST00000368507.3_Splice_Site_p.G933_splice|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 938 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGAAAAGTTCCCTACAGGAT 0.318000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 6 7 0 0 3.59834e-05 0 0 CTNND2 1501 broad.mit.edu 37 5 11364983 11364983 + Nonsense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:11364983G>T ENST00000304623.8 - 8 1386 c.1197C>A c.(1195-1197)taC>taA p.Y399* CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Y62*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Y399*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Y308* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 399 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GCTGGCTGCTGTATGAGGCTC 0.507000 12 63 3.27435e-08 6.83504e-07 0.000219431 1 0 ASXL3 80816 broad.mit.edu 37 18 31324745 31324745 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:31324745G>A ENST00000269197.5 + 12 4933 c.4933G>A c.(4933-4935)Gaa>Aaa p.E1645K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1645 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TATCAAAACTGAACATGCCAA 0.438000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 52 0 0 5.01169e-05 0 0 NLRP9 338321 broad.mit.edu 37 19 56243688 56243688 + Silent SNP G G A rs143748392 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:56243688G>A ENST00000332836.2 - 2 1536 c.1509C>T c.(1507-1509)atC>atT p.I503I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 503 cytoplasm ATP binding p.I503I(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCATGCTGACGATTTCTTCTG 0.433000 56 108 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9050038 9050038 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:9050038G>A ENST00000397910.4 - 5 31796 c.31593C>T c.(31591-31593)ttC>ttT p.F10531F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10533 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAACATCAGGGAAAACATATG 0.478000 31 206 0 0 8.91981e-05 0 0 FER1L6 654463 broad.mit.edu 37 8 124987451 124987451 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:124987451C>T ENST00000522917.1 + 8 794 c.588C>T c.(586-588)acC>acT p.T196T FER1L6_ENST00000399018.1_Silent_p.T196T NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 196 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGACTGGCACCAAGGGGTACC 0.502000 35 73 0 0 0.000228196 0 0 RIF1 55183 broad.mit.edu 37 2 152319852 152319852 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:152319852C>T ENST00000243326.4 + 29 4301 c.3818C>T c.(3817-3819)tCa>tTa p.S1273L RIF1_ENST00000453091.2_Missense_Mutation_p.S1273L|RIF1_ENST00000444746.2_Missense_Mutation_p.S1273L|RIF1_ENST00000430328.2_Missense_Mutation_p.S1273L|RIF1_ENST00000428287.2_Missense_Mutation_p.S1273L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1273 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GGGACTTTTTCAAAATCTGAT 0.343000 45 123 0 0 0.000147903 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532006 84532006 + RNA SNP A A G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:84532006A>G ENST00000527857.1 + 0 2028 NR_026851.1 TTGGTCAGAAAGTCTTTCAAG 0.458000 5 19 0 0 3.59834e-05 0 0 LRIT3 345193 broad.mit.edu 37 4 110791224 110791224 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:110791224G>A ENST00000327908.3 + 4 1534 c.770G>A c.(769-771)cGa>cAa p.R257Q LRIT3_ENST00000409621.2_Missense_Mutation_p.R257Q|LRIT3_ENST00000379920.3_Missense_Mutation_p.R395Q|LRIT3_ENST00000594814.1_Missense_Mutation_p.R440Q Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 395 Ig-like. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GCCAACAAGCGATCATTCCAG 0.468000 13 61 0 0 0.00010058 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101883 82101883 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:82101883G>A ENST00000199936.4 + 2 567 c.374G>A c.(373-375)cGa>cAa p.R125Q RP11-510J16.5_ENST00000567021.1_RNA NM_002153.2 NP_002144.1 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 125 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GAGGAATTGCGAAGAACCTGC 0.527000 15 19 0 0 7.07596e-05 0 0 SLC9A2 6549 broad.mit.edu 37 2 103324903 103324903 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:103324903G>A ENST00000233969.2 + 12 2536 c.2394G>A c.(2392-2394)tcG>tcA p.S798S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 798 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GGAGGGCATCGGAACCTGGAA 0.567000 12 56 0 0 0.000219431 0 0 SLC28A1 9154 broad.mit.edu 37 15 85478717 85478717 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:85478717G>A ENST00000394573.1 + 15 1751 c.1549G>A c.(1549-1551)Gag>Aag p.E517K SLC28A1_ENST00000537216.1_Missense_Mutation_p.E517K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E517K|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E517K NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 517 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGGGCCGAGGAGTGGGTCGG 0.617000 15 120 0 0 9.7654e-05 0 0 STON1 11037 broad.mit.edu 37 2 48807961 48807961 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:48807961C>T ENST00000309835.3 + 1 199 c.189C>T c.(187-189)tcC>tcT p.S63S STON1-GTF2A1L_ENST00000394751.3_Silent_p.S63S|STON1-GTF2A1L_ENST00000309827.2_Silent_p.S63S|STON1_ENST00000406226.1_Silent_p.S63S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S63S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S63S|STON1-GTF2A1L_ENST00000394754.1_Silent_p.S63S|STON1_ENST00000404752.1_Silent_p.S63S stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTCCTCTCTCCTCCCCCATTG 0.493000 25 52 0 0 0.000117367 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923760 43923760 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:43923760G>T ENST00000329196.5 + 1 1505 c.1488G>T c.(1486-1488)atG>atT p.M496I MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 496 integral to membrane aspartic-type endopeptidase activity TCATGCAGATGGGCCAACCTG 0.612000 47 23 2.52991e-16 5.3415e-15 0.000147903 1 0 RFC1 5981 broad.mit.edu 37 4 39301645 39301645 + Missense_Mutation SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:39301645G>C ENST00000381897.1 - 21 2940 c.2807C>G c.(2806-2808)gCg>gGg p.A936G RFC1_ENST00000349703.2_Missense_Mutation_p.A935G NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 936 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 GCTCACCTGCGCAGGCAGAAG 0.448000 13 36 0 0 0.000219431 0 0 HECW1 23072 broad.mit.edu 37 7 43548571 43548571 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:43548571G>A ENST00000395891.1 + 24 4475 c.3870G>A c.(3868-3870)ctG>ctA p.L1290L AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Silent_p.L1256L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1290 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TTTGCAGCCTGGACTACAGTG 0.527000 32 79 0 0 0.000109025 0 0 FAT1 2195 broad.mit.edu 37 4 187549677 187549677 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:187549677G>A ENST00000441802.2 - 8 4773 c.4564C>T c.(4564-4566)Cat>Tat p.H1522Y NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1522 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACAGCTTCATGATCCAGTTTC 0.507000 HNSCC(5;0.00058) 12 41 0 0 0.000151284 0 0 STXBP5L 9515 broad.mit.edu 37 3 120876361 120876361 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:120876361C>T ENST00000273666.6 + 9 1035 c.764C>T c.(763-765)tCa>tTa p.S255L STXBP5L_ENST00000492541.1_Missense_Mutation_p.S255L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S255L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S255L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S255L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 255 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCTATTCATTCAATTGATTGG 0.358000 6 40 0 0 8.12818e-05 0 0 TRDN 10345 broad.mit.edu 37 6 123824976 123824976 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:123824976C>T ENST00000334268.4 - 8 998 c.681G>A c.(679-681)caG>caA p.Q227Q TRDN_ENST00000398178.3_Silent_p.Q227Q|TRDN_ENST00000546248.1_Silent_p.Q227Q Q13061 TRDN_HUMAN triadin 227 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) TCACTTTCTCCTGTTTTCCAC 0.363000 4 3 0 0 0.00024832 0 0 HYDIN 54768 broad.mit.edu 37 16 71212863 71212863 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:71212863C>T ENST00000393567.2 - 4 499 c.349G>A c.(349-351)Gaa>Aaa p.E117K HYDIN_ENST00000288168.10_Missense_Mutation_p.E134K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E117K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E144K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E117K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E117K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E117K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E134K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 117 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGTGGAACTTCATAGACTTCA 0.393000 12 41 0 0 6.40141e-05 0 0 LMO2 4005 broad.mit.edu 37 11 33880940 33880940 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:33880940C>T ENST00000257818.2 - 6 1475 c.646G>A c.(646-648)Gac>Aac p.D216N LMO2_ENST00000395833.3_Missense_Mutation_p.D147N NM_005574.3 NP_005565.2 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 147 multicellular organismal development nucleus protein binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 TCGTAGATGTCCTGTTCGCAC 0.502000 T TRD@ T-ALL 25 42 0 0 0.000279167 0 0 TTN 7273 broad.mit.edu 37 2 179611340 179611340 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:179611340C>T ENST00000360870.5 - 46 16009 c.15787G>A c.(15787-15789)Gaa>Aaa p.E5263K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8782 Ig-like 33. 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) CTCTTTGCTTCCCCTATGATG 0.423000 8 9 0 0 0.000157383 0 0 ABCA3 21 broad.mit.edu 37 16 2347406 2347406 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:2347406C>T ENST00000301732.5 - 17 2887 c.2187G>A c.(2185-2187)ctG>ctA p.L729L ABCA3_ENST00000382381.3_Silent_p.L671L NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 729 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGCGGTCTCCCAGCAGGTCAG 0.627000 32 25 0 0 8.91981e-05 0 0 OTOP2 92736 broad.mit.edu 37 17 72926570 72926570 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:72926570C>T ENST00000331427.4 + 6 932 c.840C>T c.(838-840)acC>acT p.T280T OTOP2_ENST00000580223.1_Silent_p.T280T NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 280 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) ACACCCCAACCCCTGTCAGCC 0.582000 33 44 0 0 0.000132358 0 0 TEX15 56154 broad.mit.edu 37 8 30705003 30705003 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:30705003C>T ENST00000256246.2 - 1 1605 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 511 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTGAAATTTTCGTTTGTATGA 0.303000 18 138 0 0 7.07596e-05 0 0 FUT9 10690 broad.mit.edu 37 6 96651968 96651968 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:96651968C>T ENST00000302103.5 + 3 1263 c.937C>T c.(937-939)Ctt>Ttt p.L313F NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 313 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) TAAGTTATACCTTAGTTACTT 0.373000 8 27 0 0 0.000157383 0 0 NAP1L2 4674 broad.mit.edu 37 X 72434151 72434151 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:72434151C>T ENST00000373517.3 - 1 533 c.178G>A c.(178-180)Gaa>Aaa p.E60K NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 60 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCACCGTTTTCCCCTTCTTCC 0.582000 20 17 0 0 0.000175454 0 0 CRB1 23418 broad.mit.edu 37 1 197391011 197391011 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:197391011G>A ENST00000367397.1 + 2 1054 c.196G>A c.(196-198)Gga>Aga p.G66R CRB1_ENST00000538660.1_Missense_Mutation_p.G685R|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.G573R|CRB1_ENST00000535699.1_Missense_Mutation_p.G616R|CRB1_ENST00000544212.1_Missense_Mutation_p.G166R|CRB1_ENST00000367400.3_Missense_Mutation_p.G685R P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 685 EGF-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCAAAGCAGAGGACGCTGCAT 0.507000 6 29 0 0 3.59834e-05 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063416 76063416 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:76063416A>T ENST00000260045.3 - 5 883 c.778T>A c.(778-780)Ttt>Att p.F260I NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 260 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 ATAATGGAAAAGAAGTGTGAG 0.438000 15 64 0 0 0.000422831 0 0 KAT6A 7994 broad.mit.edu 37 8 41798546 41798546 + Silent SNP G G C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:41798546G>C ENST00000396930.3 - 16 3396 c.2853C>G c.(2851-2853)ctC>ctG p.L951L KAT6A_ENST00000406337.1_Silent_p.L951L|KAT6A_ENST00000265713.2_Silent_p.L951L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 951 histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding GGCTTTTCTTGAGCTGTCCTC 0.582000 5 142 0 0 8.12818e-05 0 0 PSG7 5676 broad.mit.edu 37 19 43430822 43430822 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:43430822C>T ENST00000446844.3 - 0 845 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) CCTTATTCTCCCTGGGGTTTA 0.493000 40 124 0 0 0.000125731 0 0 CYP2A6 1548 broad.mit.edu 37 19 41350627 41350627 + Missense_Mutation SNP G G T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:41350627G>T ENST00000301141.5 - 8 1232 c.1212C>A c.(1210-1212)ttC>ttA p.F404L CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 404 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGTTGGAGAAGAAACTGGGGT 0.537000 19 35 7.21436e-19 1.52479e-17 0.000132079 1 0 CACNA1A 773 broad.mit.edu 37 19 13418659 13418659 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:13418659G>A ENST00000360228.5 - 15 1922 c.1923C>T c.(1921-1923)ttC>ttT p.F641F CACNA1A_ENST00000573710.2_Silent_p.F642F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 642 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCCTTCATCGAAATTAAACC 0.547000 27 62 0 0 0.000279167 0 0 PHKA1 5255 broad.mit.edu 37 X 71877446 71877446 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:71877446G>A ENST00000373545.3 - 9 1348 c.910C>T c.(910-912)Cct>Tct p.P304S PHKA1_ENST00000541944.1_Missense_Mutation_p.P304S|PHKA1_ENST00000373542.4_Missense_Mutation_p.P304S|PHKA1_ENST00000339490.3_Missense_Mutation_p.P304S|PHKA1_ENST00000373539.3_Missense_Mutation_p.P304S P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 304 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) ACCTCTTTAGGAGTTTTATAT 0.418000 5 21 0 0 3.59834e-05 0 0 IQGAP2 10788 broad.mit.edu 37 5 75950773 75950773 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:75950773G>A ENST00000274364.6 + 20 2562 c.2265G>A c.(2263-2265)gtG>gtA p.V755V IQGAP2_ENST00000396234.3_Silent_p.V251V|IQGAP2_ENST00000379730.3_Silent_p.V257V|IQGAP2_ENST00000502745.1_Silent_p.V251V NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 755 IQ 3. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) ATGAAATTGTGAAAATACAGT 0.353000 20 94 0 0 7.16444e-05 0 0 DYNLRB1 83658 broad.mit.edu 37 20 33122618 33122618 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:33122618C>T ENST00000417166.2 + 3 299 c.266C>T c.(265-267)tCc>tTc p.S89F DYNLRB1_ENST00000480759.1_Intron|DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000357156.2_Intron Q9NP97 DLRB1_HUMAN dynein, light chain, roadblock-type 1 0 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity endometrium(1)|large_intestine(1)|lung(1) 3 TCTTCTACCTCCCCATGTAGG 0.532000 5 25 0 0 8.12818e-05 0 0 ARSJ 79642 broad.mit.edu 37 4 114823585 114823585 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:114823585C>T ENST00000315366.7 - 2 2511 c.1645G>A c.(1645-1647)Ggg>Agg p.G549R ARSJ_ENST00000541197.1_Missense_Mutation_p.G549R NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 549 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CCCCAGACCCCTCCATTGAGC 0.463000 5 22 0 0 3.59834e-05 0 0 FAT4 79633 broad.mit.edu 37 4 126336764 126336764 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:126336764C>T ENST00000394329.3 + 5 6659 c.6646C>T c.(6646-6648)Cct>Tct p.P2216S FAT4_ENST00000335110.5_Missense_Mutation_p.P514S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2216 Cadherin 21. 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 TGTCGCTAAACCTTTGGATAG 0.463000 6 35 0 0 8.12818e-05 0 0 NEB 4703 broad.mit.edu 37 2 152404847 152404847 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:152404847C>T ENST00000397345.3 - 131 20334 c.20132G>A c.(20131-20133)cGg>cAg p.R6711Q NEB_ENST00000172853.10_Missense_Mutation_p.R5010Q|NEB_ENST00000603639.1_Missense_Mutation_p.R6711Q|NEB_ENST00000427231.2_Missense_Mutation_p.R6711Q|NEB_ENST00000409198.1_Missense_Mutation_p.R5010Q|NEB_ENST00000604864.1_Missense_Mutation_p.R6711Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5010 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTTGACTCTCCGGACGTGGAC 0.423000 40 32 0 0 0.000106405 0 0 AP4B1 10717 broad.mit.edu 37 1 114442839 114442839 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:114442839G>A ENST00000369569.1 - 5 1081 c.801C>T c.(799-801)ccC>ccT p.P267P AP4B1_ENST00000256658.4_Silent_p.P267P|AP4B1_ENST00000369566.3_Silent_p.P174P|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Silent_p.P99P NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 267 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTGTACGTGGGGAAACATTT 0.468000 11 63 0 0 3.86212e-05 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 8 341 0 0 3.86212e-05 0 0 LRP1 4035 broad.mit.edu 37 12 57590918 57590918 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:57590918G>A ENST00000243077.3 + 56 9512 c.9046G>A c.(9046-9048)Ggc>Agc p.G3016S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3016 EGF-like 12; calcium-binding (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCCCGCGGCGGCGACCCCCA 0.642000 23 14 0 0 0.000147802 0 0 FNDC1 84624 broad.mit.edu 37 6 159651016 159651016 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr6:159651016C>T ENST00000297267.9 + 10 1550 c.1350C>T c.(1348-1350)ttC>ttT p.F450F FNDC1_ENST00000340366.6_Intron NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 450 Fibronectin type-III 4. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CCAAAGCCTTCATTGTCGCTA 0.488000 37 141 0 0 0.000319135 0 0 DCN 1634 broad.mit.edu 37 12 91545434 91545434 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:91545434G>A ENST00000052754.5 - 7 1383 c.882C>T c.(880-882)atC>atT p.I294I DCN_ENST00000420120.2_Silent_p.I185I|DCN_ENST00000425043.1_Silent_p.I147I|DCN_ENST00000393155.1_Silent_p.I294I|DCN_ENST00000228329.5_Silent_p.I185I|DCN_ENST00000552962.1_Silent_p.I294I|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Silent_p.I147I NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 294 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 GCATTACCTGGATGTACTTAT 0.502000 20 30 0 0 0.000229342 0 0 CLSTN2 64084 broad.mit.edu 37 3 140282839 140282839 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:140282839C>T ENST00000458420.3 + 16 2709 c.2519C>T c.(2518-2520)tCc>tTc p.S840F NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 840 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 ATCATCATCTCCGTGTGCATG 0.537000 HNSCC(16;0.037) 23 159 0 0 0.000375601 0 0 NLRP4 147945 broad.mit.edu 37 19 56373427 56373427 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:56373427G>A ENST00000301295.6 + 5 2510 c.2088G>A c.(2086-2088)ttG>ttA p.L696L NLRP4_ENST00000346986.5_Silent_p.L696L|NLRP4_ENST00000587891.1_Silent_p.L621L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 696 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGCCAGACTTGAAATACCTGA 0.443000 27 144 0 0 9.22233e-05 0 0 NRXN2 9379 broad.mit.edu 37 11 64453131 64453131 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:64453131C>T ENST00000265459.6 - 6 1600 c.1139G>A c.(1138-1140)cGa>cAa p.R380Q NRXN2_ENST00000377559.3_Missense_Mutation_p.R356Q|NRXN2_ENST00000409571.1_Missense_Mutation_p.R380Q|NRXN2_ENST00000377551.1_Missense_Mutation_p.R380Q NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 380 Laminin G-like 2. cell adhesion integral to membrane metal ion binding p.R380Q(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GCGCAGGTTTCGGGTGACCCG 0.607000 11 44 0 0 0.000151284 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216332 8216332 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:8216332G>A ENST00000361926.3 + 3 804 c.694G>A c.(694-696)Gag>Aag p.E232K ARHGEF15_ENST00000421050.1_Missense_Mutation_p.E232K NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 232 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GGGGGGCTATGAGGAGGTCCC 0.706000 22 44 0 0 0.000229342 0 0 DPYS 1807 broad.mit.edu 37 8 105463544 105463544 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:105463544C>T ENST00000351513.2 - 2 485 c.353G>A c.(352-354)cGa>cAa p.R118Q NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 118 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCCCAGCTTCGCCAGGTCTC 0.522000 17 39 0 0 0.000132079 0 0 TMEM89 440955 broad.mit.edu 37 3 48659036 48659036 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:48659036G>A ENST00000330862.3 - 1 252 c.154C>T c.(154-156)Ctg>Ttg p.L52L NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 52 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGACAGCTCAGGCCACCCCTA 0.642000 9 23 0 0 0.000442599 0 0 NR2F1 7025 broad.mit.edu 37 5 92924011 92924011 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:92924011C>T ENST00000327111.3 + 2 2539 c.852C>T c.(850-852)gcC>gcT p.A284A NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 284 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) GCCTGCATGCCTCGCCCATGT 0.667000 9 38 0 0 0.00010058 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243560 47243560 + Missense_Mutation SNP G G A rs147132109 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:47243560G>A ENST00000300404.2 + 9 1278 c.1219G>A c.(1219-1221)Gag>Aag p.E407K B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E321K|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E347K NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 407 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TCTCTTCAACGAGGAGACCAA 0.493000 19 56 0 0 0.000175454 0 0 LRGUK 136332 broad.mit.edu 37 7 133943049 133943049 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr7:133943049C>T ENST00000285928.2 + 19 2308 c.2239C>T c.(2239-2241)Cgg>Tgg p.R747W NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 747 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 TTCATTGTTTCGGTTCTGTCC 0.448000 42 64 0 0 0.000147903 0 0 NUP210 23225 broad.mit.edu 37 3 13368735 13368735 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:13368735C>T ENST00000254508.5 - 32 4571 c.4489G>A c.(4489-4491)Gtt>Att p.V1497I NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1497 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTGGTCAGAACAGTGGCCAGA 0.637000 5 10 0 0 3.59834e-05 0 0 DSC1 1823 broad.mit.edu 37 18 28711671 28711671 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr18:28711671G>A ENST00000257197.3 - 15 2634 c.2373C>T c.(2371-2373)tcC>tcT p.S791S RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257198.5_Silent_p.S791S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 791 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTCCTTTGTTGGAATCCAAAG 0.498000 20 35 0 0 9.22233e-05 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389895 52389895 + RNA SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr10:52389895C>T ENST00000443374.1 + 0 588 TATGCTGGGTCGTTTTCCTGA 0.403000 6 10 0 0 0.000157383 0 0 PSG8 440533 broad.mit.edu 37 19 43269712 43269712 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:43269712G>A ENST00000404209.4 - 1 118 c.22C>T c.(22-24)Ccc>Tcc p.P8S PSG8_ENST00000306511.4_Missense_Mutation_p.P8S|PSG8_ENST00000406636.3_Missense_Mutation_p.P8S|PSG8_ENST00000401467.2_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 8 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGTGTGCAGGGAGGGGCTGAG 0.597000 5 68 0 0 0.000274275 0 0 OR10H4 126541 broad.mit.edu 37 19 16060767 16060767 + Splice_Site SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:16060767G>A ENST00000322107.1 + 1 950 c.948_splice c.e1+1 p.*317_splice NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CCAAGTTCCTGAGCGCCAGTT 0.388000 17 24 0 0 5.01169e-05 0 0 XDH 7498 broad.mit.edu 37 2 31610747 31610747 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:31610747G>A ENST00000379416.3 - 8 629 c.581C>T c.(580-582)tCt>tTt p.S194F XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 194 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTTGAATAAAGATGGCGAGAG 0.532000 8 4 0 0 3.86212e-05 0 0 NPY1R 4886 broad.mit.edu 37 4 164246878 164246878 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:164246878C>T ENST00000296533.2 - 3 1263 c.732G>A c.(730-732)atG>atA p.M244I NPY1R_ENST00000509586.1_Start_Codon_SNP_p.M1I NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 244 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTTGTCCATCATGTTGTTTC 0.363000 5 34 0 0 3.59834e-05 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507371 26507371 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:26507371C>T ENST00000361530.6 + 3 521 c.376C>T c.(376-378)Ctc>Ttc p.L126F CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.L126F Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 126 CRIC. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TGACGCCCTCCTCTTCTGGCT 0.572000 14 24 0 0 5.01169e-05 0 0 ERC2 26059 broad.mit.edu 37 3 56330239 56330239 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:56330239C>T ENST00000288221.6 - 3 1137 c.882G>A c.(880-882)caG>caA p.Q294Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 294 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GGGTTTGTTTCTGCGTTTCAA 0.458000 75 314 0 0 0.000147903 0 0 SCN11A 11280 broad.mit.edu 37 3 38888407 38888407 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:38888407C>T ENST00000302328.3 - 26 5352 c.5154G>A c.(5152-5154)aaG>aaA p.K1718K SCN11A_ENST00000450244.1_Silent_p.K1718K|SCN11A_ENST00000456224.3_Silent_p.K1680K NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1718 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.K1718N(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CATACAACTTCTTGAGAGGAT 0.448000 7 79 0 0 0.000274275 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256433 69256433 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:69256433G>A ENST00000439696.2 - 2 1135 c.834C>T c.(832-834)ctC>ctT p.L278L ZFP36L1_ENST00000336440.3_Silent_p.L278L|ZFP36L1_ENST00000555997.1_3'UTR NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 278 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGGGCCGGAAGAGGAAGGTGG 0.627000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 54 0 0 0.00010058 0 0 DNAH7 56171 broad.mit.edu 37 2 196851789 196851789 + Splice_Site SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:196851789C>T ENST00000312428.6 - 14 1855 c.e14+1 NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CACATAAATACCTTGTATTTA 0.343000 47 42 0 0 0.000147903 0 0 NFKB1 4790 broad.mit.edu 37 4 103459077 103459077 + Silent SNP T T G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:103459077T>G ENST00000226574.4 + 5 689 c.222T>G c.(220-222)tcT>tcG p.S74S NFKB1_ENST00000505458.1_Silent_p.S73S|NFKB1_ENST00000394820.4_Silent_p.S73S NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 73 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CTGGTGCCTCTAGTGAAAAGA 0.408000 11 17 0 0 6.40141e-05 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605586 159605586 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:159605586G>A ENST00000337808.6 + 5 1663 c.1086G>A c.(1084-1086)aaG>aaA p.K362K IQCJ-SCHIP1_ENST00000412423.2_Silent_p.K349K|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.K322K|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.K438K|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.K411K|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.K130K|SCHIP1_ENST00000482804.1_Silent_p.K135K|SCHIP1_ENST00000445224.2_Silent_p.K119K NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 362 cytoplasm identical protein binding|protein binding p.K362N(1)|p.K438N(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CAAGGCAAAAGAAATTGCAAG 0.453000 33 135 0 0 0.000409698 0 0 UGT2B10 7365 broad.mit.edu 37 4 69681842 69681842 + Nonsense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:69681842G>A ENST00000265403.7 + 1 132 c.105G>A c.(103-105)tgG>tgA p.W35* UGT2B10_ENST00000458688.2_Nonsense_Mutation_p.W35* NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 35 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 ACAGCCTTTGGATGAATATGA 0.438000 9 33 0 0 0.000274275 0 0 PPWD1 23398 broad.mit.edu 37 5 64868010 64868010 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:64868010C>T ENST00000261308.5 + 5 938 c.866C>T c.(865-867)tCa>tTa p.S289L PPWD1_ENST00000538977.1_Missense_Mutation_p.S133L|PPWD1_ENST00000535264.1_Missense_Mutation_p.S259L NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 289 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) GTATGTTTTTCACCAGATGGG 0.333000 29 111 0 0 0.000409698 0 0 CD1E 913 broad.mit.edu 37 1 158324454 158324454 + Nonsense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:158324454C>T ENST00000368160.3 + 2 346 c.346C>T c.(346-348)Cag>Tag p.Q116* CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Nonsense_Mutation_p.Q116*|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Nonsense_Mutation_p.Q116*|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Nonsense_Mutation_p.Q116*|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Nonsense_Mutation_p.Q116*|CD1E_ENST00000368161.3_Nonsense_Mutation_p.Q116*|CD1E_ENST00000434258.1_Nonsense_Mutation_p.Q114*|CD1E_ENST00000368165.3_Nonsense_Mutation_p.Q116* NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 116 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TGGTCAATTTCAGCTTGAATG 0.388000 11 26 0 0 0.00010058 0 0 TAF1L 138474 broad.mit.edu 37 9 32632781 32632781 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:32632781C>T ENST00000242310.4 - 1 2886 c.2797G>A c.(2797-2799)Gaa>Aaa p.E933K NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 933 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCTCATTTTCTTCTTCTGGG 0.463000 18 91 0 0 0.000175454 0 0 HYDIN 54768 broad.mit.edu 37 16 71007785 71007785 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr16:71007785G>A ENST00000393567.2 - 34 5326 c.5176C>T c.(5176-5178)Cat>Tat p.H1726Y NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1726 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTTGGAGATGATTGGAAAGC 0.488000 15 81 0 0 5.01169e-05 0 0 SEC16A 9919 broad.mit.edu 37 9 139369253 139369253 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr9:139369253G>A ENST00000313050.7 - 1 2888 c.2815C>T c.(2815-2817)Cca>Tca p.P939S SEC16A_ENST00000371706.3_Missense_Mutation_p.P761S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P761S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P761S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 761 Pro-rich.|Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TGACTTTCTGGAACCAAGTTC 0.483000 26 70 0 0 0.000109025 0 0 ADAM21 8747 broad.mit.edu 37 14 70924317 70924317 + Missense_Mutation SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:70924317C>T ENST00000603540.1 + 2 359 c.101C>T c.(100-102)tCc>tTc p.S34F ADAM21_ENST00000267499.3_Missense_Mutation_p.S34F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 34 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCTGGGCCCTCCCAGCATTTC 0.547000 22 27 0 0 0.000295444 0 0 AHNAK 79026 broad.mit.edu 37 11 62292054 62292054 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr11:62292054G>A ENST00000378024.4 - 5 10109 c.9835C>T c.(9835-9837)Cca>Tca p.P3279S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3279 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTCAGTTTTGGACCTTTTAAT 0.413000 49 120 0 0 0.000147903 0 0 HPGDS 27306 broad.mit.edu 37 4 95255745 95255745 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr4:95255745C>T ENST00000295256.5 - 2 126 c.36G>A c.(34-36)agG>agA p.R12R HPGDS_ENST00000514774.1_5'UTR NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 12 GST N-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) CTGCTCTCCCCCTCATATTAA 0.368000 11 67 0 0 0.00010058 0 0 RP1L1 94137 broad.mit.edu 37 8 10470595 10470595 + Missense_Mutation SNP A A T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr8:10470595A>T ENST00000382483.3 - 4 1236 c.1013T>A c.(1012-1014)cTa>cAa p.L338Q NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 338 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCGGGACCATAGGAGCGTGTC 0.647000 33 44 0 0 0.000191422 0 0 ZXDC 79364 broad.mit.edu 37 3 126180628 126180628 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr3:126180628G>A ENST00000389709.3 - 6 1930 c.1877C>T c.(1876-1878)gCt>gTt p.A626V ZXDC_ENST00000336332.5_Missense_Mutation_p.A626V NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 626 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) GGAGGTCAAAGCCAGTGGGTC 0.552000 10 83 0 0 0.00010058 0 0 SPTA1 6708 broad.mit.edu 37 1 158646001 158646001 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:158646001G>A ENST00000368148.3 - 8 1222 c.1042C>T c.(1042-1044)Ctg>Ttg p.L348L SPTA1_ENST00000368147.3_Silent_p.L348L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 348 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGGAGACCAGATCTTCTTTC 0.478000 7 27 0 0 0.000157383 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347776 140347776 + Silent SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr5:140347776C>T ENST00000289269.5 + 1 1957 c.1425C>T c.(1423-1425)tcC>tcT p.S475S PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 475 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCTATTCCATCTACATAC 0.498000 40 147 0 0 0.000147903 0 0 CTC1 80169 broad.mit.edu 37 17 8132524 8132524 + Splice_Site SNP C C T TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr17:8132524C>T ENST00000315684.8 - 20 3164 c.3156_splice c.e20-1 p.G1053_splice NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1053 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 GTGCACTTTCCCTGGGATGAA 0.552000 45 83 0 0 0.000125731 0 0 LRP1B 53353 broad.mit.edu 37 2 141259425 141259425 + Missense_Mutation SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:141259425G>A ENST00000389484.3 - 55 9652 c.8681C>T c.(8680-8682)tCa>tTa p.S2894L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2894 LDL-receptor class A 20. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATAAAAAATGAACTGTTGCA 0.373000 TSP Lung(27;0.18) 5 12 0 0 8.12818e-05 0 0 SGSM1 129049 broad.mit.edu 37 22 25255730 25255730 + Silent SNP G G A TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr22:25255730G>A ENST00000400358.4 + 9 906 c.849G>A c.(847-849)acG>acA p.T283T SGSM1_ENST00000400359.4_Silent_p.T283T NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 283 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 TGCACCAGACGGCTGACGTCA 0.592000 11 69 0 0 3.86212e-05 0 0 PEX14 5195 broad.mit.edu 37 1 10684419 10684419 + Frame_Shift_Del DEL C C - TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:10684419delC ENST00000356607.4 + 7 590 c.510delC c.(508-510)ctfs p.L170fs PEX14_ENST00000538836.1_Frame_Shift_Del_p.L106fs NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 170 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 13 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) AGACGACCCTCGCCTCCGTCC 0.622 13 136 --- --- --- --- PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 4 7 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40756542 40756543 + Frame_Shift_Ins INS - - T rs137854889 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:40756542_40756543insT ENST00000372759.3 + 9 1241_1242 c.1076_1077insT c.(1075-1077)tttfs p.F359fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 359 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTTCCTGTGTTTTTTTTTAT 0.332 7 148 --- --- --- --- WDR78 79819 broad.mit.edu 37 1 67292641 67292641 + Frame_Shift_Del DEL T T - TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:67292641delT ENST00000371026.3 - 15 2256 c.2201delA c.(2200-2202)cgfs p.Q734fs RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Frame_Shift_Del_p.Q447fs NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 734 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GACATTCTCCTGTTGCCATAT 0.373 64 206 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842331 154842333 + In_Frame_Del DEL TGC TGC - TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr1:154842331_154842333delTGC ENST00000271915.3 - 1 423_425 c.108_110delGCA c.(106-111)caa>ca p.QQ40del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 40 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgct 0.670 3 6 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452622 43452623 + Frame_Shift_Ins INS - - C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:43452622_43452623insC ENST00000282388.3 - 2 613_614 c.320_321insG c.(319-321)gggfs p.G107fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 107 Poly-Gly. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G107G(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) CTGTGCCGCCGCCCCCCGACGG 0.693 8 8 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216246963 216246964 + Frame_Shift_Ins INS - - CT TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr2:216246963_216246964insCT ENST00000354785.4 - 32 5504_5505 c.5135_5136insAG c.(5134-5136)acafs p.T1712fs FN1_ENST00000323926.6_Frame_Shift_Ins_p.T1712fs|FN1_ENST00000359671.1_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000446046.1_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000432072.2_Frame_Shift_Ins_p.T1712fs|FN1_ENST00000356005.4_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000421182.1_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000357867.4_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000357009.2_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000346544.3_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000345488.5_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000443816.1_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000336916.4_Frame_Shift_Ins_p.T1621fs|FN1_ENST00000490833.1_5'UTR P02751 FINC_HUMAN fibronectin 1 1711 Fibronectin type-III 12; extra domain. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGAGGCTGACTCTCTCCGCT 0.455 16 55 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46245553 46245553 + Frame_Shift_Del DEL C C - TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr12:46245553delC ENST00000334344.6 + 15 3819 c.3647delC c.(3646-3648)agfs p.T1216fs ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.T1067fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.T826fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1216 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCAGTACAAACGCTTCCAGCC 0.483 """N, S, F""" hepatocellular carcinoma 7 15 --- --- --- --- PYGL 5836 broad.mit.edu 37 14 51376772 51376773 + Frame_Shift_Ins INS - - C rs113993984 TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr14:51376772_51376773insC ENST00000216392.7 - 17 2349_2350 c.2017_2018insG c.(2017-2019)agcfs p.S673fs PYGL_ENST00000544180.2_Frame_Shift_Ins_p.S639fs|PYGL_ENST00000532462.1_Frame_Shift_Ins_p.S673fs NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 673 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CCCCGAGGCTTCGGTGCCTGCA 0.475 51 96 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89870251 89870252 + In_Frame_Ins INS - - CAGGTCCCACTC TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr15:89870251_89870252insCAGGTCCCACTC ENST00000268124.5 - 8 1809_1810 c.1476_1477insGAGTGGGACCTG c.(1474-1479)ctaaga>ctGAGTGGGACCTGaaga p.492_493LR>LSGT*R POLG_ENST00000442287.2_In_Frame_Ins_p.492_493LR>LSGT*R NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 492 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TTAAATTCTTGCAGGTCCCACT 0.584 DNA polymerases (catalytic subunits) 11 217 --- --- --- --- HOMER3 9454 broad.mit.edu 37 19 19042906 19042906 + Frame_Shift_Del DEL A A - TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr19:19042906delA ENST00000539827.1 - 6 1221 c.569delT c.(568-570)tcfs p.F190fs HOMER3_ENST00000221222.11_Frame_Shift_Del_p.F190fs|AC002985.3_ENST00000596918.1_Intron|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.F190fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.F154fs Q9NSC5 HOME3_HUMAN homer homolog 3 (Drosophila) 190 metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 Epithelial(12;0.0107) CTGCAGTGCGAAAAACTCGGC 0.687 2 4 --- --- --- --- RRBP1 6238 broad.mit.edu 37 20 17617376 17617377 + Splice_Site INS - - G TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chr20:17617376_17617377insG ENST00000377813.1 - 6 2488 c.e6-2 RRBP1_ENST00000455029.2_Splice_Site|RRBP1_ENST00000360807.4_Splice_Site|RRBP1_ENST00000246043.4_Splice_Site|RRBP1_ENST00000377807.2_Splice_Site Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TGCCATCTCCTGGGGGGAAAGT 0.619 28 68 --- --- --- --- SOWAHD 347454 broad.mit.edu 37 X 118893300 118893301 + Frame_Shift_Ins INS - - C TCGA-BF-A1Q0-01A-21D-A19A-08 TCGA-BF-A1Q0-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8597b25-8541-43e0-b46c-e54e2eaca473 9ae35461-c8d7-4a2e-88b9-8bf14458a975 g.chrX:118893300_118893301insC ENST00000343905.3 + 1 725_726 c.670_671insC c.(670-672)ctgfs p.L224fs NM_001105576.2 NP_001099046.1 A6NJG2 ANR58_HUMAN sosondowah ankyrin repeat domain family member D 224 CGGCCACCGGGCCTGCCACTAC 0.703 2 4 --- --- --- ---