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 PYGL 5836 broad.mit.edu 37 14 51401905 51401905 + Splice_Site SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:51401905T>A ENST00000216392.7 - 3 678 c.e3-2 PYGL_ENST00000544180.2_Splice_Site|PYGL_ENST00000532462.1_Splice_Site NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 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) CAATCCAAGCTGGTAATGAAA 0.418000 14 17 0 0 0.001855 0 0 DBF4 10926 broad.mit.edu 37 7 87533696 87533696 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:87533696T>C ENST00000265728.1 + 11 1518 c.1014T>C c.(1012-1014)ttT>ttC p.F338F NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 338 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTTTTGACTTTGTGGAATATG 0.363000 7 23 0 0 0.001984 0 0 OR4C16 219428 broad.mit.edu 37 11 55340262 55340262 + Missense_Mutation SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:55340262T>G ENST00000314634.3 + 1 659 c.659T>G c.(658-660)tTg>tGg p.L220W NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L220S(2) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GTCATCTTCTTGCATTCTCTG 0.418000 10 31 0 0 0.008291 0 0 ANK2 287 broad.mit.edu 37 4 114158246 114158246 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:114158246T>A ENST00000357077.4 + 6 640 c.587T>A c.(586-588)cTg>cAg p.L196Q ANK2_ENST00000264366.6_Missense_Mutation_p.L196Q|ANK2_ENST00000506722.1_Missense_Mutation_p.L175Q|ANK2_ENST00000394537.3_Missense_Mutation_p.L196Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 196 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) CTGCCAGCTCTGCATATTGCC 0.517000 80 81 0 0 0.003610 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364605 142364605 + RNA SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:142364605T>A ENST00000390397.2 + 0 276 GAGAGATCTCTGATGGATACA 0.473000 4 53 0 0 0.000248 0 0 HTR2A 3356 broad.mit.edu 37 13 47409077 47409077 + Silent SNP C C T rs143205112 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:47409077C>T ENST00000378688.4 - 3 1442 c.1311G>A c.(1309-1311)aaG>aaA p.K437K HTR2A_ENST00000543956.1_Silent_p.K353K|HTR2A_ENST00000542664.1_Silent_p.K437K P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 437 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TATCTGTTGTCTTGGCATCTT 0.413000 14 84 0 0 0.002450 0 0 WDR19 57728 broad.mit.edu 37 4 39271619 39271619 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:39271619G>A ENST00000399820.3 + 31 3536 c.3382G>A c.(3382-3384)Gtt>Att p.V1128I WDR19_ENST00000288634.7_Missense_Mutation_p.V968I NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1128 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TGCACACGATGTTCTCTTCAG 0.433000 6 36 0 0 0.001168 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145941 81145941 + RNA SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:81145941C>A ENST00000534142.1 - 0 1198 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TAGCCAAGGGCGGCATCGGCT 0.532000 23 33 1.55795e-14 2.86227e-14 0.001882 1 0 OR2W3 343171 broad.mit.edu 37 1 248059177 248059177 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248059177T>A ENST00000537741.1 + 3 546 c.289T>A c.(289-291)Tgt>Agt p.C97S OR2W3_ENST00000360358.3_Missense_Mutation_p.C97S Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 97 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) CTACATGGGCTGTGCCATCCA 0.572000 30 78 0 0 0.002445 0 0 ACSM3 6296 broad.mit.edu 37 16 20781403 20781403 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:20781403T>C ENST00000289416.5 + 2 522 c.47T>C c.(46-48)tTt>tCt p.F16S ACSM3_ENST00000440284.2_Missense_Mutation_p.F16S NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 16 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GCCAAGTGTTTTCAGCGCCTA 0.448000 80 47 0 0 0.003610 0 0 NLRP3 114548 broad.mit.edu 37 1 247611773 247611773 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:247611773T>C ENST00000366497.2 + 9 3687 c.2907T>C c.(2905-2907)ccT>ccC p.P969P NLRP3_ENST00000336119.3_Silent_p.P1026P|NLRP3_ENST00000391828.3_Silent_p.P1026P|NLRP3_ENST00000366496.2_Silent_p.P969P|NLRP3_ENST00000348069.2_Silent_p.P912P|NLRP3_ENST00000391827.2_Silent_p.P969P NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 1026 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) AAGAAAAGCCTGAGCTGACCG 0.502000 22 30 0 0 0.002780 0 0 MYL10 93408 broad.mit.edu 37 7 101266322 101266322 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:101266322C>T ENST00000223167.4 - 4 481 c.304G>A c.(304-306)Ggc>Agc p.G102S NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 102 EF-hand 1. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 TCGATGAAGCCATCACGGTTC 0.627000 12 18 0 0 0.002450 0 0 IGLON5 402665 broad.mit.edu 37 19 51826947 51826947 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:51826947G>T ENST00000270642.8 + 3 190 c.190G>T c.(190-192)Gcc>Tcc p.A64S NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 64 Ig-like C2-type 1. extracellular region large_intestine(5)|lung(6)|prostate(1) 12 GACCCGCGTGGCCTGGCTGAA 0.637000 7 27 8.12818e-05 0.000108224 0.001984 1 0 ZSWIM5 57643 broad.mit.edu 37 1 45500130 45500130 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:45500130A>G ENST00000359600.5 - 11 2508 c.2303T>C c.(2302-2304)tTa>tCa p.L768S NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 768 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGAGTTTTCTAAAACAGGTAA 0.542000 25 48 0 0 0.005443 0 0 GSDMD 79792 broad.mit.edu 37 8 144642896 144642896 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:144642896G>A ENST00000526406.1 + 7 1417 c.534G>A c.(532-534)cgG>cgA p.R178R GSDMD_ENST00000533063.1_Silent_p.R226R|GSDMD_ENST00000262580.4_Silent_p.R178R NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 178 breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 CCCACAAGCGGGAGGGCTCGG 0.697000 3 13 0 0 0.004672 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43847712 43847712 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:43847712A>T ENST00000389420.3 - 12 1757 c.1758T>A c.(1756-1758)ccT>ccA p.P586P ADAMTS20_ENST00000553158.1_Silent_p.P586P NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 586 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGACATACTCAGGACGATTAC 0.423000 3 10 0 0 0.004672 0 0 SNRPN 6638 broad.mit.edu 37 15 25221464 25221464 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:25221464G>T ENST00000444203.2 + 4 1219 c.180G>T c.(178-180)gcG>gcT p.A60A SNRPN_ENST00000400100.1_Silent_p.A56A|SNRPN_ENST00000390687.4_Silent_p.A56A|SNRPN_ENST00000577565.1_Silent_p.A56A|SNRPN_ENST00000346403.6_Silent_p.A56A|SNRPN_ENST00000400098.1_Silent_p.A56A|SNRPN_ENST00000400097.1_Silent_p.A56A|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Silent_p.A60A P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 56 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CAAAGAATGCGAAGCAACCAG 0.423000 Prader-Willi syndrome 11 35 3.07112e-06 4.29413e-06 0.000978 1 0 NLRP14 338323 broad.mit.edu 37 11 7065059 7065059 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:7065059G>A ENST00000299481.4 + 4 2148 c.1802G>A c.(1801-1803)tGt>tAt p.C601Y NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 601 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCAATGAGATGTTTCCCAAAG 0.423000 20 64 0 0 0.002299 0 0 SLIT2 9353 broad.mit.edu 37 4 20490581 20490581 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:20490581C>G ENST00000504154.1 + 8 1003 c.751C>G c.(751-753)Caa>Gaa p.Q251E SLIT2_ENST00000273739.5_Missense_Mutation_p.Q251E|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q251E|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q251E NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 251 LRRCT 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGCCGAGGTTCAAAAACGAGA 0.507000 18 92 0 0 0.006122 0 0 PCNX 22990 broad.mit.edu 37 14 71555084 71555084 + Missense_Mutation SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:71555084T>G ENST00000304743.2 + 29 5821 c.5375T>G c.(5374-5376)cTc>cGc p.L1792R PCNX_ENST00000439984.3_Missense_Mutation_p.L1681R|PCNX_ENST00000238570.5_Missense_Mutation_p.L1720R NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1792 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTAGTGACTCTCTGTTATGGA 0.393000 45 29 0 0 0.003610 0 0 ABCC11 85320 broad.mit.edu 37 16 48249177 48249177 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:48249177C>A ENST00000394747.1 - 7 1379 c.1030G>T c.(1030-1032)Gaa>Taa p.E344* ABCC11_ENST00000537808.1_Nonsense_Mutation_p.E344*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.E344*|ABCC11_ENST00000353782.5_Nonsense_Mutation_p.E344*|ABCC11_ENST00000356608.2_Nonsense_Mutation_p.E344* NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 344 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTGAGAACTTCACTGGTCACA 0.448000 6 62 0.00116845 0.00146908 0.001168 1 0 GRM7 2917 broad.mit.edu 37 3 6903419 6903419 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:6903419C>T ENST00000486284.1 + 1 618 c.344C>T c.(343-345)gCg>gTg p.A115V GRM7_ENST00000403881.1_Missense_Mutation_p.A115V|GRM7_ENST00000402647.2_Missense_Mutation_p.A115V|GRM7_ENST00000389336.4_Missense_Mutation_p.A115V|GRM7_ENST00000357716.4_Missense_Mutation_p.A115V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 115 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GACACTTACGCGCTCGAACAG 0.607000 4 30 0 0 0.000248 0 0 RPAP1 26015 broad.mit.edu 37 15 41828728 41828728 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:41828728G>C ENST00000304330.4 - 3 417 c.301C>G c.(301-303)Cac>Gac p.H101D RPAP1_ENST00000561603.1_Missense_Mutation_p.H101D NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 101 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCAGTGATGTGCTGATCATGC 0.547000 11 60 0 0 0.001368 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954779 72954779 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:72954779T>A ENST00000421285.3 + 11 1034 c.1034T>A c.(1033-1035)aTg>aAg p.M345K NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 345 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 CAGGAGGAGATGCTCCGAGAG 0.557000 95 145 0 0 0.003610 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086478 46086478 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:46086478C>T ENST00000360770.3 - 1 366 c.326G>A c.(325-327)aGc>aAc p.S109N TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 109 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 AGGCCTGCAGCTCACAGGCAC 0.642000 11 63 0 0 0.001855 0 0 ASTN1 460 broad.mit.edu 37 1 176863850 176863850 + Missense_Mutation SNP G G T rs147140947 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:176863850G>T ENST00000367654.2 - 17 2825 c.2812C>A c.(2812-2814)Cgc>Agc p.R938S ASTN1_ENST00000361833.2_Missense_Mutation_p.R930S|ASTN1_ENST00000367657.3_Missense_Mutation_p.R930S|ASTN1_ENST00000424564.2_Missense_Mutation_p.R930S O14525 ASTN1_HUMAN astrotactin 1 938 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 CACTCCATGCGGACTCCAGCC 0.607000 26 96 2.41591e-17 4.7016e-17 0.004656 1 0 CCDC39 339829 broad.mit.edu 37 3 180334315 180334315 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:180334315A>G ENST00000442201.2 - 18 2694 c.2575T>C c.(2575-2577)Tac>Cac p.Y859H CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron NM_181426.1 NP_852091.1 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 859 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGTTGAAAGTATGTTTGAAGG 0.279000 3 9 0 0 0.004672 0 0 ZNF460 10794 broad.mit.edu 37 19 57803456 57803456 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:57803456G>C ENST00000360338.3 + 3 1869 c.1547G>C c.(1546-1548)aGc>aCc p.S516T ZNF460_ENST00000537645.1_Missense_Mutation_p.S475T NM_006635.3 NP_006626.3 Q14592 ZN460_HUMAN zinc finger protein 460 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTTGTGAGAGCACAGATCTC 0.527000 13 65 0 0 0.001368 0 0 USP26 83844 broad.mit.edu 37 X 132161952 132161952 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:132161952G>T ENST00000511190.1 - 6 766 c.297C>A c.(295-297)gaC>gaA p.D99E USP26_ENST00000406273.1_Missense_Mutation_p.D99E|USP26_ENST00000370832.1_Missense_Mutation_p.D99E NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 99 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GATGAACTCTGTCCAAGAATA 0.388000 7 30 0.00198382 0.00245517 0.001984 1 0 CYP26B1 56603 broad.mit.edu 37 2 72362006 72362006 + Nonsense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:72362006T>A ENST00000001146.2 - 4 948 c.745A>T c.(745-747)Aag>Tag p.K249* CYP26B1_ENST00000546307.1_Nonsense_Mutation_p.K174*|CYP26B1_ENST00000412253.1_Nonsense_Mutation_p.K58* NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 249 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 CGGATGGCCTTCTCCAGCCCC 0.612000 10 55 0 0 0.001855 0 0 PF4 5196 broad.mit.edu 37 4 74847209 74847209 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:74847209G>T ENST00000296029.3 - 2 313 c.143C>A c.(142-144)tCc>tAc p.S48Y NM_002619.3 NP_002610.1 P02776 PLF4_HUMAN platelet factor 4 48 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding p.S48F(1) kidney(1)|lung(1) 2 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) ACGGACCTGGGAGGTGGTCTT 0.602000 10 20 0.00621372 0.00751352 0.006214 1 0 SNTG1 54212 broad.mit.edu 37 8 51363114 51363114 + Splice_Site SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:51363114A>T ENST00000522124.1 + 7 938 c.e7-1 SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TTTCATTCACAGCGGAACTTT 0.274000 45 39 0 0 0.003610 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590379 140590379 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:140590379G>T ENST00000239450.2 + 1 2089 c.1900G>T c.(1900-1902)Gac>Tac p.D634Y PCDHB12_ENST00000541609.1_Missense_Mutation_p.D297Y NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 634 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCGAGCGCGACGCGGCCAA 0.697000 12 81 3.41278e-10 5.63644e-10 0.004990 1 0 SLC12A9 56996 broad.mit.edu 37 7 100452363 100452363 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:100452363G>T ENST00000354161.3 + 3 428 c.303G>T c.(301-303)ggG>ggT p.G101G SLC12A9_ENST00000428758.1_Silent_p.G101G|SLC12A9_ENST00000540482.1_Silent_p.G101G|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000275729.3_Intron NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 101 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGTGCAGGGGGGCGGAGCCT 0.612000 24 41 6.12954e-19 1.22076e-18 0.004656 1 0 NTM 50863 broad.mit.edu 37 11 132177606 132177606 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:132177606G>T ENST00000374786.1 + 4 1029 c.550G>T c.(550-552)Gaa>Taa p.E184* NTM_ENST00000427481.2_Nonsense_Mutation_p.E175*|NTM_ENST00000374784.1_Nonsense_Mutation_p.E184*|NTM_ENST00000539799.1_Nonsense_Mutation_p.E184*|NTM_ENST00000374791.3_Nonsense_Mutation_p.E184*|NTM_ENST00000425719.2_Nonsense_Mutation_p.E184*|NTM_ENST00000474900.1_3'UTR NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 184 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.E184K(2)|p.E184*(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 GAGTGAAGACGAATACTTGGA 0.493000 10 51 7.48243e-07 1.08461e-06 0.006214 1 0 NLRP4 147945 broad.mit.edu 37 19 56390295 56390295 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:56390295C>A ENST00000301295.6 + 9 3254 c.2832C>A c.(2830-2832)gcC>gcA p.A944A NLRP4_ENST00000346986.5_Silent_p.A888A|NLRP4_ENST00000587891.1_Silent_p.A869A NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 944 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) TCTGTGAGGCCCTGAGACACC 0.592000 15 25 6.31663e-08 9.75271e-08 0.003163 1 0 TM9SF3 56889 broad.mit.edu 37 10 98311156 98311156 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:98311156C>A ENST00000371142.4 - 7 1021 c.805G>T c.(805-807)Gga>Tga p.G269* TM9SF3_ENST00000490192.1_5'UTR NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 269 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TATTCATCTCCTAGGTCTCTA 0.328000 16 36 1.15088e-07 1.73731e-07 0.004007 1 0 CEP192 55125 broad.mit.edu 37 18 13056511 13056511 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:13056511G>T ENST00000506447.1 + 19 4002 c.3922G>T c.(3922-3924)Gtg>Ttg p.V1308L CEP192_ENST00000430049.2_Missense_Mutation_p.V833L|CEP192_ENST00000325971.8_Missense_Mutation_p.V712L NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 903 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCAGAACTCTGTGGCTGTGGG 0.512000 22 33 1.10513e-12 1.96192e-12 0.002299 1 0 OR6T1 219874 broad.mit.edu 37 11 123813658 123813658 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:123813658C>A ENST00000321252.2 - 1 922 c.888G>T c.(886-888)aaG>aaT p.K296N NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTTGCTGCACCTTGTCATTGC 0.512000 6 147 1.26484e-09 2.05321e-09 0.003080 1 0 P2RY6 5031 broad.mit.edu 37 11 73008546 73008546 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:73008546G>A ENST00000393590.2 + 2 1282 c.983G>A c.(982-984)cGc>cAc p.R328H P2RY6_ENST00000349767.2_Missense_Mutation_p.R328H|P2RY6_ENST00000542092.1_Missense_Mutation_p.R328H|P2RY6_ENST00000393591.1_Missense_Mutation_p.R328H|P2RY6_ENST00000540124.1_Missense_Mutation_p.R328H|P2RY6_ENST00000540342.1_Missense_Mutation_p.R328H|P2RY6_ENST00000538328.1_Missense_Mutation_p.R328H|P2RY6_ENST00000393592.2_Missense_Mutation_p.R328H NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 328 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 AGGCAGGGTCGCTGAGTCCTC 0.577000 10 29 0 0 0.008291 0 0 ZNF488 118738 broad.mit.edu 37 10 48371133 48371133 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:48371133C>A ENST00000395702.2 + 2 828 c.601C>A c.(601-603)Ctc>Atc p.L201I ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.L94I Q96MN9 ZN488_HUMAN zinc finger protein 488 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CACTACAGACCTCGCTTGTTG 0.532000 20 44 0.00229938 0.00283829 0.002299 1 0 FLNA 2316 broad.mit.edu 37 X 153593758 153593758 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:153593758C>A ENST00000422373.1 - 10 1774 c.1526G>T c.(1525-1527)gGc>gTc p.G509V FLNA_ENST00000360319.4_Missense_Mutation_p.G509V|FLNA_ENST00000369850.3_Missense_Mutation_p.G509V|FLNA_ENST00000344736.4_Missense_Mutation_p.G509V NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 509 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) ACTGCCAGCGCCCTTTGTGTA 0.672000 19 76 6.94344e-10 1.13882e-09 0.006122 1 0 SLIT2 9353 broad.mit.edu 37 4 20591325 20591325 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:20591325C>T ENST00000504154.1 + 30 3399 c.3147C>T c.(3145-3147)caC>caT p.H1049H SLIT2_ENST00000273739.5_Silent_p.H1062H|SLIT2_ENST00000503837.1_Silent_p.H1045H|SLIT2_ENST00000503823.1_Silent_p.H1041H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1049 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CCTGCCAGCACGATTCAAAGT 0.483000 7 37 0 0 0.001984 0 0 SULT2A1 6822 broad.mit.edu 37 19 48374763 48374763 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:48374763C>A ENST00000222002.3 - 6 946 c.807G>T c.(805-807)ttG>ttT p.L269F NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 269 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TCTCTTGGAACAATTTATCAA 0.443000 21 51 6.44725e-10 1.06111e-09 0.002299 1 0 FER1L6 654463 broad.mit.edu 37 8 125115475 125115475 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:125115475G>C ENST00000522917.1 + 39 5420 c.5214G>C c.(5212-5214)gaG>gaC p.E1738D FER1L6_ENST00000399018.1_Missense_Mutation_p.E1738D|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1738 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) ATGCAAGTGAGGAGACCAAGA 0.473000 133 110 0 0 0.003610 0 0 GPC6 10082 broad.mit.edu 37 13 94679996 94679996 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:94679996C>A ENST00000377047.4 + 4 1340 c.725C>A c.(724-726)cCa>cAa p.P242Q NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 242 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) AGCCCAACCCCAGGGTGTATC 0.453000 15 108 1.35283e-19 2.74035e-19 0.004007 1 0 GUCY2F 2986 broad.mit.edu 37 X 108696812 108696812 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:108696812G>T ENST00000218006.2 - 4 1600 c.1309C>A c.(1309-1311)Cct>Act p.P437T NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 437 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 AAGTGAATAGGGGTCCCTCCG 0.488000 11 47 1.49906e-05 2.02437e-05 0.002450 1 0 SST 6750 broad.mit.edu 37 3 187387016 187387016 + Missense_Mutation SNP G G A rs149673471 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:187387016G>A ENST00000287641.3 - 2 295 c.188C>T c.(187-189)aCg>aTg p.T63M NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 63 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity kidney(1)|large_intestine(1)|lung(6)|pancreas(1) 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) ATCATTCTCCGTCTGGTTGGG 0.517000 30 200 0 0 0.002445 0 0 MYCBP2 23077 broad.mit.edu 37 13 77900726 77900726 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:77900726C>A ENST00000407578.2 - 1 451 c.185G>T c.(184-186)gGt>gTt p.G62V MYCBP2_ENST00000357337.6_Missense_Mutation_p.G24V|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G24V|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 24 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGGTAGTGACCCCGGGAGTC 0.726000 4 13 2.56e-06 3.59006e-06 0.000248 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118364984 118364984 + Nonsense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:118364984G>A ENST00000528052.1 + 12 1330 c.1259G>A c.(1258-1260)tGg>tAg p.W420* PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.W420*|PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.W420* P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 420 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AAGTTTCTTTGGAATAACAAT 0.428000 5 49 0 0 0.001168 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560590 67560590 + RNA SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:67560590C>T ENST00000528089.1 - 0 1160 AAGTTTTATCCGCTTTCCCAT 0.413000 3 29 0 0 0.001984 0 0 MYT1L 23040 broad.mit.edu 37 2 1914045 1914045 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:1914045G>C ENST00000399161.2 - 13 2531 c.1784C>G c.(1783-1785)tCc>tGc p.S595C MYT1L_ENST00000428368.2_Missense_Mutation_p.S593C NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 595 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTGGACTTGGACACGTCGCA 0.612000 11 14 0 0 0.008291 0 0 ITIH5 80760 broad.mit.edu 37 10 7679399 7679399 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:7679399G>T ENST00000256861.6 - 5 522 c.444C>A c.(442-444)ccC>ccA p.P148P ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P148P|ITIH5_ENST00000397146.2_Silent_p.P148P|ITIH5_ENST00000446830.2_5'UTR NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 148 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TGTCCTTGCTGGGAATCACTG 0.547000 10 52 1.33987e-11 2.30945e-11 0.008291 1 0 MRPS18B 28973 broad.mit.edu 37 6 30593483 30593483 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:30593483G>T ENST00000259873.4 + 7 843 c.686G>T c.(685-687)gGc>gTc p.G229V MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR NM_014046.3 NP_054765.1 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B 229 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 GAAGAGAGTGGCCCCCCACCT 0.597000 9 121 7.48243e-07 1.08461e-06 0.006214 1 0 REG1A 5967 broad.mit.edu 37 2 79350037 79350037 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:79350037G>T ENST00000233735.1 + 5 495 c.392G>T c.(391-393)aGt>aTt p.S131I NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 131 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCCCCAAGCAGTGTTAATCCT 0.577000 36 84 5.04308e-16 9.52358e-16 0.006230 1 0 CCND2 894 broad.mit.edu 37 12 4383338 4383338 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:4383338C>T ENST00000261254.3 + 1 401 c.132C>T c.(130-132)ttC>ttT p.F44F RP11-264F23.4_ENST00000537370.1_RNA|RP11-264F23.3_ENST00000539135.1_RNA NM_001759.3 NP_001750.1 P30279 CCND2_HUMAN cyclin D2 44 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) GCTCCTACTTCAAGTGCGTGC 0.652000 T IGL@ """NHL,CLL""" 29 56 0 0 0.007291 0 0 ZNF536 9745 broad.mit.edu 37 19 30934662 30934662 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:30934662G>T ENST00000355537.3 + 2 340 c.193G>T c.(193-195)Gag>Tag p.E65* NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 65 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CGCATCCCTGGAGGAGAAGGC 0.677000 20 34 5.26018e-13 9.44441e-13 0.001882 1 0 TRPA1 8989 broad.mit.edu 37 8 72984028 72984028 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:72984028C>A ENST00000262209.4 - 2 393 c.186G>T c.(184-186)atG>atT p.M62I NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 62 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AGAAGGTGTCCATATCGTCAC 0.348000 40 36 9.8876e-21 2.02888e-20 0.004878 1 0 KIAA1467 57613 broad.mit.edu 37 12 13208723 13208723 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:13208723G>T ENST00000197268.8 + 2 396 c.276G>T c.(274-276)caG>caT p.Q92H NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 92 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GCCTGGAACAGAAGGCGGCCT 0.577000 28 66 1.75199e-13 3.16962e-13 0.007291 1 0 CALB2 794 broad.mit.edu 37 16 71423651 71423651 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:71423651G>T ENST00000302628.4 + 11 776 c.e11-1 CALB2_ENST00000349553.5_Splice_Site NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) GTATTTCCTAGGAAATGAATA 0.517000 78 163 4.81439e-37 1.03728e-36 0.003610 1 0 CYP8B1 1582 broad.mit.edu 37 3 42917134 42917134 + Missense_Mutation SNP G G T rs149860457 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:42917134G>T ENST00000316161.4 - 1 499 c.175C>A c.(175-177)Cgc>Agc p.R59S KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R59S|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 59 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GTCCTCATGCGCTTCAGAAAT 0.572000 16 27 1.67942e-08 2.64466e-08 0.006122 1 0 OR10J5 127385 broad.mit.edu 37 1 159505512 159505512 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:159505512C>T ENST00000334857.2 - 1 330 c.286G>A c.(286-288)Ggc>Agc p.G96S NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GTAGCACAGCCTGCCAAGGAG 0.463000 19 59 0 0 0.008871 0 0 CRYGC 1420 broad.mit.edu 37 2 208993087 208993087 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:208993087C>T ENST00000282141.3 - 3 402 c.365G>A c.(364-366)cGt>cAt p.R122H NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 122 Beta/gamma crystallin 'Greek key' 3. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GTGGAGGGAACGGATCTCGCT 0.632000 4 44 0 0 0.000248 0 0 SLC5A1 6523 broad.mit.edu 37 22 32498113 32498113 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:32498113C>T ENST00000266088.4 + 13 1804 c.1554C>T c.(1552-1554)ccC>ccT p.P518P SLC5A1_ENST00000543737.1_Silent_p.P391P NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 518 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GCAACTGTCCCACGATTATCT 0.488000 4 54 0 0 0.000248 0 0 ALPI 248 broad.mit.edu 37 2 233322984 233322984 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:233322984C>T ENST00000295463.3 + 9 1126 c.1049C>T c.(1048-1050)gCg>gTg p.A350V NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 350 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding p.A350V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CTCACTGAGGCGGTCATGTTC 0.627000 14 38 0 0 0.002450 0 0 TSKS 60385 broad.mit.edu 37 19 50245190 50245190 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:50245190G>T ENST00000246801.3 - 9 1531 c.1449C>A c.(1447-1449)ggC>ggA p.G483G TSKS_ENST00000358830.3_Silent_p.G283G NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 483 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CAGGAGTCAGGCCCCTCTGCT 0.592000 17 40 1.56452e-12 2.74661e-12 0.007413 1 0 MALAT1 378938 broad.mit.edu 37 11 65265461 65265461 + RNA SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:65265461A>C ENST00000534336.1 + 0 229 NR_002819.2 TATTTAGATAAAACCACTCAA 0.493000 7 111 0 0 0.001984 0 0 UBR5 51366 broad.mit.edu 37 8 103309166 103309166 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:103309166C>A ENST00000520539.1 - 28 4226 c.3620G>T c.(3619-3621)tGt>tTt p.C1207F UBR5_ENST00000521922.1_Missense_Mutation_p.C1201F|UBR5_ENST00000220959.4_Missense_Mutation_p.C1207F NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1207 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTCCGTACAACAACACAGTGA 0.313000 23 16 1.7881e-09 2.8927e-09 0.008361 1 0 TEP1 7011 broad.mit.edu 37 14 20859156 20859156 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:20859156C>A ENST00000262715.5 - 14 2237 c.2197G>T c.(2197-2199)Gtg>Ttg p.V733L TEP1_ENST00000556935.1_Missense_Mutation_p.V625L NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 733 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCCTTAAGCACTGCAGTCTTC 0.537000 13 75 1.52009e-12 2.67853e-12 0.003163 1 0 OR13C9 286362 broad.mit.edu 37 9 107379838 107379838 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr9:107379838G>T ENST00000259362.1 - 1 647 c.648C>A c.(646-648)atC>atA p.I216I NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 ATGAGTAAGAGATAACTATCA 0.453000 6 31 5.9392e-07 8.68883e-07 0.001168 1 0 OR4D6 219983 broad.mit.edu 37 11 59224911 59224911 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:59224911G>A ENST00000300127.2 + 1 501 c.478G>A c.(478-480)Gta>Ata p.V160I NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 AATCATCCAGGTAATTCTGAT 0.527000 43 63 0 0 0.002222 0 0 PKHD1 5314 broad.mit.edu 37 6 51935228 51935228 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:51935228C>A ENST00000371117.3 - 10 958 c.683G>T c.(682-684)aGc>aTc p.S228I PKHD1_ENST00000340994.4_Missense_Mutation_p.S228I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 228 IPT/TIG 2. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TACTGAGAAGCTAACATTCTG 0.388000 12 15 4.3838e-07 6.43319e-07 0.001855 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454234 84454234 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:84454234A>T ENST00000377084.2 - 1 2294 c.1409T>A c.(1408-1410)aTg>aAg p.M470K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 470 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CAGTTTGGGCATGGCATTGAA 0.557000 5 44 0 0 0.000602 0 0 UGT8 7368 broad.mit.edu 37 4 115585282 115585282 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:115585282A>G ENST00000310836.6 + 3 1476 c.954A>G c.(952-954)aaA>aaG p.K318K UGT8_ENST00000394511.3_Silent_p.K318K NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 318 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGCCTCAAAAAGTGATTTGGA 0.418000 7 31 0 0 0.003080 0 0 LAS1L 81887 broad.mit.edu 37 X 64744855 64744855 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:64744855T>A ENST00000374811.3 - 8 1072 c.1032A>T c.(1030-1032)atA>atT p.I344I LAS1L_ENST00000374807.5_Silent_p.I344I|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Silent_p.I302I NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 344 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 CTTCATATTCTATCTGCAAAG 0.547000 6 21 0 0 0.001984 0 0 HEATR6 63897 broad.mit.edu 37 17 58144875 58144875 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:58144875G>A ENST00000184956.6 - 8 1174 c.1158C>T c.(1156-1158)ttC>ttT p.F386F HEATR6_ENST00000585976.1_Silent_p.F386F NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 386 Poly-Ser. binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TGGAAGAACTGAAGGATGAGG 0.463000 21 48 0 0 0.002780 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22931922 22931922 + RNA SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:22931922A>T ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA TTATATTTGCAGGAAGTCAGC 0.388000 6 11 0 0 0.001168 0 0 SYT10 341359 broad.mit.edu 37 12 33579232 33579232 + Missense_Mutation SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:33579232T>G ENST00000228567.3 - 2 646 c.350A>C c.(349-351)aAg>aCg p.K117T SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 117 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) TTCATTTTCCTTAATTTCTTT 0.408000 13 87 0 0 0.001855 0 0 MYH7 4625 broad.mit.edu 37 14 23887558 23887558 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:23887558G>T ENST00000355349.3 - 30 4192 c.4030C>A c.(4030-4032)Cgg>Agg p.R1344R NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1344 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TACTGCTCCCGCAGCAGGTCG 0.662000 8 56 5.18039e-06 7.09684e-06 0.003080 1 0 ZNRF4 148066 broad.mit.edu 37 19 5455572 5455572 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:5455572C>T ENST00000222033.4 + 1 147 c.70C>T c.(70-72)Ctg>Ttg p.L24L NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 24 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTCACTGCCTCTGAGCCACGC 0.662000 13 34 0 0 0.001368 0 0 MUC17 140453 broad.mit.edu 37 7 100679543 100679543 + Missense_Mutation SNP G G A rs150842387 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:100679543G>A ENST00000306151.4 + 3 4910 c.4846G>A c.(4846-4848)Gct>Act p.A1616T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1616 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A1616T(1) 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) ATCTACAACCGCTGAAGGTAG 0.502000 14 254 0 0 0.002450 0 0 ELF4 2000 broad.mit.edu 37 X 129200733 129200733 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:129200733G>T ENST00000308167.5 - 9 2334 c.1955C>A c.(1954-1956)cCt>cAt p.P652H ELF4_ENST00000335997.7_Missense_Mutation_p.P652H NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 652 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GAGGGAAGTAGGGTTGAATGG 0.547000 T ERG AML 28 171 5.77227e-19 1.15445e-18 0.008361 1 0 IRAK4 51135 broad.mit.edu 37 12 44161952 44161952 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:44161952G>T ENST00000448290.2 + 2 109 c.38G>T c.(37-39)tGc>tTc p.C13F IRAK4_ENST00000551736.1_Missense_Mutation_p.C13F|IRAK4_ENST00000431837.1_5'UTR|IRAK4_ENST00000440781.2_Intron NM_016123.3 NP_057207.2 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 13 innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TATGTGCGCTGCCTCAATGTT 0.343000 4 16 0.00024832 0.000324253 0.000248 1 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 5 27 0 0 0.001168 0 0 NRK 203447 broad.mit.edu 37 X 105153581 105153581 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:105153581G>C ENST00000428173.2 + 13 2254 c.1951G>C c.(1951-1953)Gca>Cca p.A651P NRK_ENST00000243300.9_Missense_Mutation_p.A650P Q7Z2Y5 NRK_HUMAN Nik related kinase 650 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CTTGCTTCGGGCACCAAACTC 0.483000 HNSCC(51;0.14) 3 9 0 0 0.004672 0 0 AKR1C1 1645 broad.mit.edu 37 10 5014794 5014794 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:5014794G>T ENST00000380872.4 + 7 891 c.699G>T c.(697-699)ccG>ccT p.P233P AKR1C1_ENST00000434459.2_Silent_p.P233P|AKR1C1_ENST00000477661.1_3'UTR NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 CGAACTCCCCGGTGCTCTTGG 0.592000 22 100 1.39806e-14 2.58859e-14 0.008361 1 0 PRKCG 5582 broad.mit.edu 37 19 54407997 54407997 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:54407997G>T ENST00000263431.3 + 16 2046 c.e16+1 PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Splice_Site NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTGCAAGGGGGTGAGAGCCCC 0.562000 4 6 0.000602214 0.000769406 0.000602 1 0 MYT1L 23040 broad.mit.edu 37 2 1914044 1914044 + Silent SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:1914044G>C ENST00000399161.2 - 13 2532 c.1785C>G c.(1783-1785)tcC>tcG p.S595S MYT1L_ENST00000428368.2_Silent_p.S593S NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 595 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCTGGACTTGGACACGTCGC 0.617000 11 14 0 0 0.008291 0 0 CALB2 794 broad.mit.edu 37 16 71423652 71423652 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:71423652G>T ENST00000302628.4 + 11 777 c.699_splice c.e11-1 p.E234_splice CALB2_ENST00000349553.5_3'UTR NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 234 calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TATTTCCTAGGAAATGAATAT 0.522000 78 161 4.81439e-37 1.03728e-36 0.003610 1 0 DDX26B 203522 broad.mit.edu 37 X 134680705 134680705 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:134680705G>T ENST00000370752.4 + 5 842 c.508G>T c.(508-510)Gcc>Tcc p.A170S DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 170 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) AAGGTTATTTGCCCTGGTGTT 0.468000 21 81 4.96729e-08 7.69443e-08 0.008871 1 0 NUP98 4928 broad.mit.edu 37 11 3740728 3740728 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:3740728C>A ENST00000324932.7 - 18 2733 c.2313G>T c.(2311-2313)ttG>ttT p.L771F NUP98_ENST00000359171.4_Missense_Mutation_p.L771F|NUP98_ENST00000355260.3_Missense_Mutation_p.L771F|NUP98_ENST00000397004.4_Missense_Mutation_p.L771F|NUP98_ENST00000397007.4_Missense_Mutation_p.L788F NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 788 Peptidase S59. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAATATCATCCAAATTTAGAT 0.333000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 20 31 5.03518e-11 8.40379e-11 0.007413 1 0 OR2L13 284521 broad.mit.edu 37 1 248263215 248263215 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248263215G>T ENST00000366478.2 + 3 875 c.538G>T c.(538-540)Gtc>Ttc p.V180F OR2L13_ENST00000358120.2_Missense_Mutation_p.V180F NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) CTTCTGCGATGTCCCAGCCAT 0.458000 58 125 7.92265e-33 1.69159e-32 0.003610 1 0 IGKV3D-15 28875 broad.mit.edu 37 2 90154111 90154111 + RNA SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:90154111C>G ENST00000417279.2 + 0 247 CTCCCAGGCTCCTCATCTATG 0.597000 16 27 0 0 0.005443 0 0 SMAD2 4087 broad.mit.edu 37 18 45394791 45394791 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:45394791G>A ENST00000402690.2 - 5 952 c.558C>T c.(556-558)atC>atT p.I186I SMAD2_ENST00000586040.1_Silent_p.I156I|SMAD2_ENST00000356825.4_Silent_p.I156I|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000262160.6_Silent_p.I186I|SMAD2_ENST00000591214.1_Silent_p.I156I NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 186 anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 GTTCTGTTAGGATCTCGGTGT 0.443000 14 18 0 0 0.003163 0 0 FLG2 388698 broad.mit.edu 37 1 152327652 152327652 + Silent SNP G G A rs12737224 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:152327652G>A ENST00000388718.5 - 3 2682 c.2610C>T c.(2608-2610)ggC>ggT p.G870G FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 870 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGTCCAAAGCCAGATGTCT 0.502000 69 435 0 0 0.003610 0 0 EYS 346007 broad.mit.edu 37 6 66112430 66112430 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:66112430C>G ENST00000503581.1 - 7 1662 c.1125G>C c.(1123-1125)gaG>gaC p.E375D EYS_ENST00000370621.3_Missense_Mutation_p.E375D|EYS_ENST00000393380.2_Missense_Mutation_p.E375D|EYS_ENST00000370618.3_Missense_Mutation_p.E375D|EYS_ENST00000370616.2_Missense_Mutation_p.E375D|EYS_ENST00000342421.5_Missense_Mutation_p.E375D NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 375 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding p.E375D(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AAGGAAATGACTCACATGATG 0.284000 11 20 0 0 0.000978 0 0 AEBP1 165 broad.mit.edu 37 7 44146278 44146278 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:44146278G>T ENST00000223357.3 + 2 692 c.387G>T c.(385-387)aaG>aaT p.K129N NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 129 Pro-rich. cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 AGGCCACCAAGAAGCCCAAGG 0.602000 15 23 1.3612e-06 1.94928e-06 0.003163 1 0 HIST3H2A 92815 broad.mit.edu 37 1 228645213 228645213 + Silent SNP G G C rs142593528 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:228645213G>C ENST00000366695.2 - 1 347 c.306C>G c.(304-306)acC>acG p.T102T NM_033445.2 NP_254280.1 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 102 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|lung(3)|ovary(1) 5 Prostate(94;0.183) CCTGCGCGATGGTCACGCGGC 0.677000 24 74 0 0 0.002780 0 0 GDF10 2662 broad.mit.edu 37 10 48428987 48428987 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:48428987T>A ENST00000224605.2 - 2 1164 c.899A>T c.(898-900)gAc>gTc p.D300V NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 300 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CAGCTCGTTGTCCTGGAGGGG 0.741000 6 9 0 0 0.001984 0 0 ACAN 176 broad.mit.edu 37 15 89400503 89400503 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:89400503G>C ENST00000439576.2 + 12 5061 c.4687G>C c.(4687-4689)Ggg>Cgg p.G1563R ACAN_ENST00000559004.1_Missense_Mutation_p.G1563R|ACAN_ENST00000561243.1_Missense_Mutation_p.G1563R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1563R NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1563 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TTCTGAAGTAGGGACTGACCT 0.512000 41 43 0 0 0.005524 0 0 ZNF682 91120 broad.mit.edu 37 19 20117752 20117752 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:20117752C>A ENST00000397165.2 - 4 719 c.559G>T c.(559-561)Ggc>Tgc p.G187C ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.G193C|ZNF682_ENST00000595736.1_Missense_Mutation_p.G111C|ZNF682_ENST00000397162.1_Missense_Mutation_p.G155C|ZNF682_ENST00000358523.5_Missense_Mutation_p.G155C NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TAAGAAAGGCCTGAGTGAGAT 0.323000 6 17 0.00198382 0.00245517 0.001984 1 0 GPM6A 2823 broad.mit.edu 37 4 176594958 176594958 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:176594958C>A ENST00000280187.7 - 4 305 c.260G>T c.(259-261)gGc>gTc p.G87V GPM6A_ENST00000506894.1_Missense_Mutation_p.G76V|GPM6A_ENST00000515090.1_Missense_Mutation_p.G80V|GPM6A_ENST00000393658.2_Missense_Mutation_p.G87V NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 87 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) AGCTGCGATGCCGTAGATCAC 0.398000 6 14 0.00116845 0.00146908 0.001168 1 0 CDCA7 83879 broad.mit.edu 37 2 174231031 174231031 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:174231031C>T ENST00000306721.3 + 8 1159 c.1056C>T c.(1054-1056)tgC>tgT p.C352C CDCA7_ENST00000347703.3_Silent_p.C273C|CDCA7_ENST00000392567.2_Intron|CDCA7_ENST00000410019.3_Silent_p.C231C|CDCA7_ENST00000410101.3_Silent_p.C308C NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 273 Mediates transcriptional activity. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) GTCATCAATGCCGTCAGAAGA 0.433000 20 51 0 0 0.001523 0 0 HEATR2 54919 broad.mit.edu 37 7 780463 780463 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:780463G>T ENST00000297440.6 + 3 808 c.788G>T c.(787-789)cGg>cTg p.R263L HEATR2_ENST00000313147.5_Missense_Mutation_p.R263L|HEATR2_ENST00000438961.1_3'UTR NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 263 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CAGGTCCGGCGGGCGGTGGCC 0.637000 55 163 6.52717e-41 1.41921e-40 0.003610 1 0 CDH12 1010 broad.mit.edu 37 5 21842393 21842393 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:21842393C>A ENST00000382254.1 - 8 1777 c.691G>T c.(691-693)Gaa>Taa p.E231* CDH12_ENST00000504376.2_Nonsense_Mutation_p.E231*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.E191*|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 231 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TGATATTGTTCTTTGACTTCT 0.383000 HNSCC(59;0.17) 27 40 2.65835e-16 5.10144e-16 0.007291 1 0 DMD 1756 broad.mit.edu 37 X 32536160 32536160 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:32536160C>A ENST00000357033.4 - 18 2463 c.2257G>T c.(2257-2259)Gaa>Taa p.E753* DMD_ENST00000288447.4_Nonsense_Mutation_p.E745*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E749* NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 753 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E749K(2)|p.E748K(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AAGTTGCCTTCCTTCCGAAAG 0.383000 6 25 0.00116845 0.00146908 0.001168 1 0 AUTS2 26053 broad.mit.edu 37 7 69583191 69583191 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:69583191G>A ENST00000342771.4 + 3 917 c.596G>A c.(595-597)cGg>cAg p.R199Q AUTS2_ENST00000406775.2_Missense_Mutation_p.R199Q|AUTS2_ENST00000403018.2_Missense_Mutation_p.R199Q NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 199 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGCTTCCACCGGAGCAGCTCT 0.428000 3 30 0 0 0.000248 0 0 TMX3 54495 broad.mit.edu 37 18 66344377 66344377 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:66344377C>T ENST00000299608.2 - 16 1474 c.1158G>A c.(1156-1158)ctG>ctA p.L386L NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 386 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 TGATGACACCCAGTGGCAGGC 0.413000 32 56 0 0 0.001786 0 0 ENTPD1 953 broad.mit.edu 37 10 97626107 97626107 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:97626107C>A ENST00000371203.5 + 9 1673 c.1086C>A c.(1084-1086)caC>caA p.H362Q ENTPD1_ENST00000543964.1_Missense_Mutation_p.H392Q|RP11-429G19.3_ENST00000433113.1_RNA|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.H507Q|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.H500Q|ENTPD1_ENST00000539125.1_Missense_Mutation_p.H362Q|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.H512Q NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 500 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TTATCTTTCACAAGCCTTCAT 0.453000 19 37 0.00188189 0.0023536 0.001882 1 0 RPRD2 23248 broad.mit.edu 37 1 150444633 150444633 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:150444633C>G ENST00000401000.4 + 10 3196 c.3131C>G c.(3130-3132)tCc>tGc p.S1044C RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.S1070C Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1070 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GTCTCCTCCTCCTGCTTAGAC 0.532000 5 87 0 0 0.000602 0 0 LCE2D 353141 broad.mit.edu 37 1 152636910 152636910 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:152636910G>A ENST00000368784.1 + 2 384 c.329G>A c.(328-330)tGc>tAc p.C110Y NM_178430.2 NP_848517.1 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 110 Cys-rich. keratinization large_intestine(1)|lung(7)|prostate(2) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGGGCTGCTGCTGACCTGGG 0.587000 39 56 0 0 0.006999 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307147 2307147 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:2307147G>A ENST00000290974.2 - 8 1259 c.920C>T c.(919-921)gCg>gTg p.A307V ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A277V|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A237V|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 307 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 GAGGGCAGGCGCCAGGGCAGC 0.657000 13 33 0 0 0.002450 0 0 STARD8 9754 broad.mit.edu 37 X 67939098 67939098 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:67939098C>A ENST00000252336.6 + 6 1879 c.1507C>A c.(1507-1509)Cat>Aat p.H503N STARD8_ENST00000374599.3_Missense_Mutation_p.H583N|STARD8_ENST00000374597.3_Missense_Mutation_p.H503N NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 503 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CCAGAACTCCCATCGTCCCAG 0.587000 16 31 5.03518e-11 8.40379e-11 0.007413 1 0 SYNE1 23345 broad.mit.edu 37 6 152469466 152469466 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:152469466T>C ENST00000367255.5 - 137 25291 c.24690A>G c.(24688-24690)gaA>gaG p.E8230E SYNE1_ENST00000448038.1_Silent_p.E8159E|SYNE1_ENST00000539504.1_Silent_p.E385E|SYNE1_ENST00000423061.1_Silent_p.E8159E|SYNE1_ENST00000356820.4_Silent_p.E2754E|SYNE1_ENST00000265368.4_Silent_p.E8230E|SYNE1_ENST00000341594.5_Silent_p.E7842E|SYNE1_ENST00000354674.4_Silent_p.E385E|SYNE1_ENST00000347037.5_5'UTR NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8230 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) CTGCAGAGTCTTCCAGCTCCA 0.582000 HNSCC(10;0.0054) 13 20 0 0 0.001855 0 0 ATRX 546 broad.mit.edu 37 X 76938620 76938620 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:76938620T>C ENST00000373344.5 - 9 2342 c.2128A>G c.(2128-2130)Aat>Gat p.N710D ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N672D NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 710 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGCTTAGGATTATCTATAGCA 0.353000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 9 242 0 0 0.006214 0 0 ZNF568 374900 broad.mit.edu 37 19 37441573 37441573 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:37441573A>T ENST00000415168.1 + 5 1702 c.1326A>T c.(1324-1326)gtA>gtT p.V442V ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Silent_p.V506V NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATGTACAGTATGTGGAAAAG 0.383000 15 47 0 0 0.004007 0 0 DMBX1 127343 broad.mit.edu 37 1 46976691 46976691 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:46976691G>T ENST00000371956.4 + 3 448 c.433G>T c.(433-435)Gag>Tag p.E145* DMBX1_ENST00000360032.3_Nonsense_Mutation_p.E140* NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 145 Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GAAGGAGGCTGAGGGCTCCCA 0.647000 19 29 2.89027e-11 4.91035e-11 0.002299 1 0 LAMB1 3912 broad.mit.edu 37 7 107638920 107638920 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:107638920G>T ENST00000393561.1 - 2 487 c.303C>A c.(301-303)ttC>ttA p.F101L LAMB1_ENST00000222399.6_Missense_Mutation_p.F77L|LAMB1_ENST00000393560.1_Missense_Mutation_p.F77L P07942 LAMB1_HUMAN laminin, beta 1 77 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AATTGCATATGAAGCATTTTT 0.363000 8 37 1.58986e-06 2.25627e-06 0.008291 1 0 EPHA6 285220 broad.mit.edu 37 3 97167415 97167415 + Translation_Start_Site SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:97167415C>A ENST00000442602.2 + 0 16 EPHA6_ENST00000389672.5_Missense_Mutation_p.H579N|EPHA6_ENST00000514100.1_De_novo_Start_InFrame|EPHA6_ENST00000502694.1_De_novo_Start_InFrame Q9UF33 EPHA6_HUMAN EPH receptor A6 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 CCCCCAGGAACATGAGCAGCT 0.423000 15 57 0.00244969 0.00301599 0.002450 1 0 KLHL1 57626 broad.mit.edu 37 13 70681438 70681438 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:70681438C>T ENST00000377844.4 - 1 1153 c.394G>A c.(394-396)Ggc>Agc p.G132S ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 132 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) AAGTCCATGCCTGGCACCACC 0.582000 45 59 0 0 0.003214 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183212 39183212 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39183212A>T ENST00000361883.5 - 1 242 c.196T>A c.(196-198)Tgt>Agt p.C66S NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 66 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) CTGGTCTCACAGCAGCTTGGC 0.622000 18 52 0 0 0.007413 0 0 KCNH6 81033 broad.mit.edu 37 17 61615428 61615428 + Missense_Mutation SNP C C A rs34770814 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:61615428C>A ENST00000583023.1 + 7 1515 c.1504C>A c.(1504-1506)Ctg>Atg p.L502M KCNH6_ENST00000581784.1_Missense_Mutation_p.L449M|KCNH6_ENST00000456941.2_Missense_Mutation_p.L449M|KCNH6_ENST00000314672.5_Missense_Mutation_p.L502M NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 502 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GCCCCCAGCCCTGATGTACGC 0.662000 10 18 7.48243e-07 1.08461e-06 0.006214 1 0 CHL1 10752 broad.mit.edu 37 3 424181 424181 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:424181A>T ENST00000256509.2 + 18 2645 c.2003A>T c.(2002-2004)aAc>aTc p.N668I CHL1_ENST00000397491.2_Missense_Mutation_p.N652I|CHL1-AS1_ENST00000417612.1_RNA 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 652 Fibronectin type-III 1. 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) TTTGAAGGAAACAAAGAAGAG 0.363000 15 47 0 0 0.004007 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997100 62997100 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:62997100G>T ENST00000306494.6 - 1 24 c.25C>A c.(25-27)Caa>Aaa p.Q9K SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 9 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CCTCCAACTTGATCTAGGAGG 0.438000 19 25 5.03518e-11 8.40379e-11 0.007413 1 0 CYP26B1 56603 broad.mit.edu 37 2 72360350 72360350 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:72360350G>T ENST00000001146.2 - 5 1151 c.948C>A c.(946-948)ccC>ccA p.P316P CYP26B1_ENST00000546307.1_Silent_p.P241P|CYP26B1_ENST00000412253.1_Silent_p.P125P NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 316 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 CCAGCACAGTGGGGTGCTTCA 0.657000 7 26 0.00198382 0.00245517 0.001984 1 0 ASPHD1 253982 broad.mit.edu 37 16 29912884 29912884 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:29912884G>T ENST00000308748.5 + 1 844 c.592G>T c.(592-594)Gcc>Tcc p.A198S ASPHD1_ENST00000483405.1_5'UTR NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 198 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CCTGCCTTCAGCCCCCTTTGT 0.667000 62 66 1.7104e-27 3.61932e-27 0.003610 1 0 CD5 921 broad.mit.edu 37 11 60889151 60889151 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:60889151C>A ENST00000347785.3 + 6 1040 c.874C>A c.(874-876)Cgc>Agc p.R292S NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 292 SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CGTGGAGGTGCGCCAGGGGGC 0.657000 12 36 1.08611e-07 1.65005e-07 0.000978 1 0 MLLT4 4301 broad.mit.edu 37 6 168276054 168276054 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:168276054G>T ENST00000366806.2 + 5 760 c.618G>T c.(616-618)atG>atT p.M206I MLLT4_ENST00000392112.1_Missense_Mutation_p.M205I|MLLT4_ENST00000351017.4_Missense_Mutation_p.M206I|MLLT4_ENST00000447894.2_Missense_Mutation_p.M206I|MLLT4_ENST00000392108.3_Missense_Mutation_p.M206I|MLLT4_ENST00000344191.4_Missense_Mutation_p.M206I|MLLT4_ENST00000400822.3_Missense_Mutation_p.M205I P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 206 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) ACAAAGACATGCCGGAAACCA 0.373000 T MLL AL 44 123 1.47857e-17 2.89605e-17 0.003610 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102549360 102549360 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:102549360T>C ENST00000441629.2 - 7 1351 c.1229A>G c.(1228-1230)tAc>tGc p.Y410C HSP90AA1_ENST00000334701.7_Intron|HSP90AA1_ENST00000216281.8_Intron P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 0 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) GGAAATGCTGTATTCACATAC 0.333000 4 48 0 0 0.000248 0 0 OR52A1 23538 broad.mit.edu 37 11 5173339 5173339 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:5173339G>C ENST00000380367.1 - 2 678 c.261C>G c.(259-261)ttC>ttG p.F87L OR52A1_ENST00000328942.1_Missense_Mutation_p.F87L Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 87 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTAAACCAGAATATTCCAA 0.453000 4 14 0 0 0.000248 0 0 SEZ6 124925 broad.mit.edu 37 17 27285150 27285150 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:27285150C>T ENST00000317338.12 - 11 2545 c.2117G>A c.(2116-2118)cGc>cAc p.R706H SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.R706H|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R706H Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 706 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) TGTGTCATTGCGGGGCACCTC 0.617000 14 42 0 0 0.003163 0 0 SOGA2 23255 broad.mit.edu 37 18 8784761 8784761 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:8784761A>T ENST00000359865.3 + 6 1793 c.1651A>T c.(1651-1653)Agc>Tgc p.S551C SOGA2_ENST00000517570.1_Missense_Mutation_p.S551C|SOGA2_ENST00000306329.11_Missense_Mutation_p.S911C|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.S551C NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 902 AGAGTCCTCTAGCTTCCTCTC 0.607000 15 57 0 0 0.006122 0 0 FCGBP 8857 broad.mit.edu 37 19 40420076 40420076 + Missense_Mutation SNP G G T rs145294097 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:40420076G>T ENST00000221347.6 - 6 2925 c.2918C>A c.(2917-2919)aCg>aAg p.T973K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 973 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAAAGTCCGTGCGCACGAC 0.587000 10 35 0.000442599 0.000571641 0.006214 1 0 YLPM1 56252 broad.mit.edu 37 14 75279466 75279466 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:75279466G>T ENST00000325680.7 + 11 5607 c.5483G>T c.(5482-5484)cGg>cTg p.R1828L YLPM1_ENST00000552421.1_Missense_Mutation_p.R1122L|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1633L NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1633 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCACCGGGCCGGGAGAGCAGA 0.473000 8 8 0.000157383 0.000206647 0.003080 1 0 NEK10 152110 broad.mit.edu 37 3 27332782 27332782 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:27332782C>A ENST00000429845.2 - 19 1938 c.1576G>T c.(1576-1578)Gga>Tga p.G526* NEK10_ENST00000341435.5_Nonsense_Mutation_p.G526*|NEK10_ENST00000357467.2_5'UTR Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 526 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GCTCCACTTCCAAGATGATCC 0.403000 17 20 2.94398e-08 4.59029e-08 0.007413 1 0 ZNF594 84622 broad.mit.edu 37 17 5085550 5085550 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:5085550C>A ENST00000399604.4 - 1 2142 c.2002G>T c.(2002-2004)Gct>Tct p.A668S ZNF594_ENST00000575779.1_Missense_Mutation_p.A668S Q96JF6 ZN594_HUMAN zinc finger protein 594 668 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TGGTGTGTAGCAAGGTGTGAC 0.468000 24 44 2.89027e-11 4.91035e-11 0.002299 1 0 TNF 7124 broad.mit.edu 37 6 31545256 31545256 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:31545256C>A ENST00000449264.2 + 4 819 c.644C>A c.(643-645)cCc>cAc p.P215H NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 215 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding p.P215L(1)|p.P215>?(1) large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) ATCAATCGGCCCGACTATCTC 0.602000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 16 28 1.45105e-14 2.67626e-14 0.006122 1 0 GPR141 353345 broad.mit.edu 37 7 37780251 37780251 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:37780251C>A ENST00000447769.1 + 4 545 c.256C>A c.(256-258)Ccc>Acc p.P86T GPR141_ENST00000334425.1_Missense_Mutation_p.P86T|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 86 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTTTGGGCTGCCCTTCTGCAA 0.483000 19 37 3.32936e-07 4.90098e-07 0.006122 1 0 TRPM1 4308 broad.mit.edu 37 15 31339443 31339443 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:31339443C>A ENST00000542188.1 - 14 1999 c.1686G>T c.(1684-1686)ccG>ccT p.P562P TRPM1_ENST00000256552.6_Silent_p.P545P|TRPM1_ENST00000397795.2_Silent_p.P523P NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 523 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGTAATCAGGCGGAAGGTTGC 0.547000 8 39 5.18039e-06 7.09684e-06 0.003080 1 0 FRMPD1 22844 broad.mit.edu 37 9 37746517 37746517 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr9:37746517C>G ENST00000539465.1 + 16 5081 c.4488C>G c.(4486-4488)caC>caG p.H1496Q RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.H1496Q Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1496 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CCTTCCAGCACCTGGTCCAGC 0.637000 12 32 0 0 0.001368 0 0 OR2T1 26696 broad.mit.edu 37 1 248569881 248569881 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248569881G>A ENST00000366474.1 + 1 586 c.586G>A c.(586-588)Gca>Aca p.A196T NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGATTATAGCAGGTTCCTG 0.542000 19 62 0 0 0.007413 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148747747 148747747 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:148747747G>T ENST00000514349.1 + 5 1324 c.745G>T c.(745-747)Ggc>Tgc p.G249C PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G339C Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 339 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGTCCACGGCTACCTCAA 0.552000 OREG0016912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 125 1.22674e-20 2.50636e-20 0.008740 1 0 TENM3 55714 broad.mit.edu 37 4 183713425 183713425 + Splice_Site SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:183713425A>G ENST00000511685.1 + 26 5724 c.e26-1 TENM3_ENST00000406950.2_Splice_Site teneurin transmembrane protein 3 CTCTCTTTACAGTCCATGGTT 0.478000 12 29 0 0 0.000978 0 0 VAV3 10451 broad.mit.edu 37 1 108507383 108507383 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:108507383G>C ENST00000370056.4 - 1 383 c.109C>G c.(109-111)Ctc>Gtc p.L37V VAV3_ENST00000527011.1_Missense_Mutation_p.L37V|VAV3_ENST00000371846.4_5'UTR|VAV3-AS1_ENST00000438318.1_RNA NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 37 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCATCGCGGAGGGTCTGCGCA 0.622000 10 35 0 0 0.008291 0 0 IKBKAP 8518 broad.mit.edu 37 9 111659270 111659270 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr9:111659270T>C ENST00000374647.5 - 24 2857 c.2550A>G c.(2548-2550)gaA>gaG p.E850E IKBKAP_ENST00000537196.1_Silent_p.E501E NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 850 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 CAATTTCCAGTTCTGGGGTTG 0.443000 17 34 0 0 0.008871 0 0 INHBC 3626 broad.mit.edu 37 12 57843451 57843451 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:57843451A>T ENST00000309668.2 + 2 832 c.705A>T c.(703-705)cgA>cgT p.R235R INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 235 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 AGATTCACCGACGAGGCATCG 0.582000 11 24 0 0 0.000978 0 0 GIPC1 10755 broad.mit.edu 37 19 14591225 14591225 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:14591225C>A ENST00000393033.4 - 6 816 c.547G>T c.(547-549)Ggg>Tgg p.G183W GIPC1_ENST00000586027.1_Missense_Mutation_p.G183W|GIPC1_ENST00000345425.2_Missense_Mutation_p.G183W|GIPC1_ENST00000591349.1_Missense_Mutation_p.G86W|GIPC1_ENST00000393029.3_Missense_Mutation_p.G86W|GIPC1_ENST00000393028.1_Missense_Mutation_p.G86W NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 183 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 AGGCTCTGCCCGTTAATGGCC 0.657000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 70 2.23348e-06 3.16021e-06 0.004007 1 0 UBB 7314 broad.mit.edu 37 17 16285497 16285497 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:16285497A>G ENST00000302182.3 + 2 668 c.276A>G c.(274-276)gaA>gaG p.E92E UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 92 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.E92E(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCACCCTGGAAGTGGAGCCCA 0.557000 5 97 0 0 0.000602 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118385455 118385455 + RNA SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:118385455A>T ENST00000537242.1 + 0 230 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) AAATTAAACCAGCTAATCACT 0.438000 20 22 0 0 0.001523 0 0 ACADM 34 broad.mit.edu 37 1 76205735 76205735 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:76205735G>T ENST00000370841.4 + 7 976 c.539G>T c.(538-540)gGa>gTa p.G180V ACADM_ENST00000370834.5_Missense_Mutation_p.G213V|ACADM_ENST00000541113.1_Missense_Mutation_p.G144V|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.G184V NM_000016.4|NM_001127328.1 NP_000007.1|NP_001120800.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase, C-4 to C-12 straight chain 180 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 18 GAAAAGAAAGGAGATGAGTAT 0.328000 4 13 0.00024832 0.000324253 0.000248 1 0 LRRC18 474354 broad.mit.edu 37 10 50121487 50121487 + Silent SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:50121487G>C ENST00000374160.3 - 1 790 c.714C>G c.(712-714)ccC>ccG p.P238P LRRC18_ENST00000298124.3_Silent_p.P238P|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 238 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 AGATCAGATTGGGAAAGATGG 0.527000 51 97 0 0 0.003610 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018264 8018264 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:8018264C>A ENST00000380149.1 - 4 1044 c.1014G>T c.(1012-1014)caG>caT p.Q338H ALOXE3_ENST00000448843.2_Missense_Mutation_p.Q182H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q314H Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 182 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 ACCTGTCACCCTGGTCTACAC 0.522000 65 141 3.83939e-23 8.05252e-23 0.003610 1 0 PTPRK 5796 broad.mit.edu 37 6 128403661 128403661 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:128403661C>A ENST00000368227.3 - 10 2064 c.1698G>T c.(1696-1698)acG>acT p.T566T RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Silent_p.T566T|PTPRK_ENST00000368210.3_Silent_p.T566T|PTPRK_ENST00000368226.4_Silent_p.T566T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Silent_p.T566T|PTPRK_ENST00000532331.1_Silent_p.T566T|PTPRK_ENST00000368215.3_Silent_p.T566T Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 566 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AAAACTGGTACGTGGTTCCAG 0.458000 24 40 6.32553e-13 1.13143e-12 0.004656 1 0 BNC1 646 broad.mit.edu 37 15 83932483 83932483 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:83932483A>T ENST00000345382.2 - 4 1605 c.1520T>A c.(1519-1521)aTa>aAa p.I507K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.I500K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 507 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GGAAGGGAGTATCCCAGGCGT 0.517000 18 44 0 0 0.007413 0 0 CACNA1E 777 broad.mit.edu 37 1 181764047 181764047 + Silent SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:181764047G>C ENST00000526775.1 + 44 6054 c.5889G>C c.(5887-5889)cgG>cgC p.R1963R CACNA1E_ENST00000367570.1_Silent_p.R1982R|CACNA1E_ENST00000357570.5_Silent_p.R1976R|CACNA1E_ENST00000358338.5_Silent_p.R1914R|CACNA1E_ENST00000367573.2_Silent_p.R2025R|CACNA1E_ENST00000360108.3_Silent_p.R2006R|CACNA1E_ENST00000367567.4_Silent_p.R1589R NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2025 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCACTATTCGGGATAAGCGTT 0.483000 23 30 0 0 0.002299 0 0 TULP4 56995 broad.mit.edu 37 6 158902193 158902193 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:158902193T>C ENST00000367097.3 + 8 2715 c.1358T>C c.(1357-1359)gTg>gCg p.V453A TULP4_ENST00000367094.2_Missense_Mutation_p.V453A NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 453 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GACCCGGAGGTGGGCGGCCCG 0.617000 11 56 0 0 0.008291 0 0 ANO1 55107 broad.mit.edu 37 11 70033898 70033898 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:70033898A>G ENST00000355303.5 + 26 3054 c.2749A>G c.(2749-2751)Aag>Gag p.K917E ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.K771E|ANO1_ENST00000531349.1_Missense_Mutation_p.K626E|ANO1_ENST00000538023.1_Missense_Mutation_p.K917E|ANO1_ENST00000530676.1_Missense_Mutation_p.K771E|ANO1-AS1_ENST00000524987.1_RNA NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 917 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GGACATCCCCAAGGACATCAG 0.582000 4 12 0 0 0.000248 0 0 DOK5 55816 broad.mit.edu 37 20 53260108 53260108 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:53260108C>A ENST00000262593.5 + 7 1197 c.847C>A c.(847-849)Cgc>Agc p.R283S DOK5_ENST00000395939.1_Missense_Mutation_p.R175S NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 283 insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) ACAGCTCTACCGCTTGCAAGG 0.662000 10 29 1.58986e-06 2.25627e-06 0.008291 1 0 CKAP2L 150468 broad.mit.edu 37 2 113514765 113514765 + Silent SNP G G C rs145362538 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:113514765G>C ENST00000302450.6 - 4 261 c.183C>G c.(181-183)acC>acG p.T61T CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_Intron NM_152515.3 NP_689728.3 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 61 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CAACATGGTTGGTAACATCAT 0.353000 10 134 0 0 0.001368 0 0 PIGS 94005 broad.mit.edu 37 17 26898184 26898184 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:26898184G>A ENST00000308360.7 - 2 432 c.57C>T c.(55-57)gcC>gcT p.A19A PIGS_ENST00000543734.1_Intron|PIGS_ENST00000395346.2_Silent_p.A11A NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 19 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) AGAAGAGGGCGGCGCGCTTGC 0.682000 11 25 0 0 0.001855 0 0 SCN10A 6336 broad.mit.edu 37 3 38797307 38797307 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:38797307C>T ENST00000449082.2 - 10 1432 c.1433G>A c.(1432-1434)cGc>cAc p.R478H NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 478 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) AGGATCAGAGCGGGGTGATTT 0.488000 11 172 0 0 0.001368 0 0 GPATCH2 55105 broad.mit.edu 37 1 217604634 217604634 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:217604634C>A ENST00000366935.3 - 10 1550 c.1440G>T c.(1438-1440)tgG>tgT p.W480C NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 480 G-patch. intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) ACCCAGGCGTCCAGCCCATAT 0.463000 61 83 1.22119e-34 2.6192e-34 0.003610 1 0 ZNF721 170960 broad.mit.edu 37 4 436078 436078 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:436078T>A ENST00000338977.5 - 2 2190 c.2142A>T c.(2140-2142)aaA>aaT p.K714N ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K726N zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 GATCTTCACATTTGTAGGGTT 0.393000 8 21 0 0 0.004482 0 0 TCHHL1 126637 broad.mit.edu 37 1 152059651 152059651 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:152059651T>A ENST00000368806.1 - 3 571 c.507A>T c.(505-507)ccA>ccT p.P169P NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 169 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ATGCTTCTCCTGGAAAGTTGT 0.443000 36 58 0 0 0.004878 0 0 SLC16A1 6566 broad.mit.edu 37 1 113459922 113459922 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:113459922C>A ENST00000538576.1 - 4 1937 c.1106G>T c.(1105-1107)tGg>tTg p.W369L SLC16A1_ENST00000433570.4_Missense_Mutation_p.W369L|SLC16A1_ENST00000369626.3_Missense_Mutation_p.W369L NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 369 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) GGAGCTGAGCCACCCGAAGGC 0.488000 10 15 1.76689e-08 2.7732e-08 0.006214 1 0 ATRNL1 26033 broad.mit.edu 37 10 116919973 116919973 + Silent SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:116919973A>C ENST00000355044.3 + 6 1128 c.1002A>C c.(1000-1002)ctA>ctC p.L334L ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Silent_p.L334L NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 334 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AAATGGTCCTAAAGTAAGTAT 0.323000 33 73 0 0 0.003755 0 0 FAT2 2196 broad.mit.edu 37 5 150947298 150947298 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:150947298G>A ENST00000261800.5 - 1 1207 c.1195C>T c.(1195-1197)Cca>Tca p.P399S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 399 Cadherin 3. 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) TCTGAAGATGGCTTTAGAACA 0.498000 19 30 0 0 0.007413 0 0 AVEN 57099 broad.mit.edu 37 15 34295248 34295248 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:34295248G>T ENST00000306730.3 - 2 559 c.430C>A c.(430-432)Ctc>Atc p.L144I CHRM5_ENST00000383263.5_Intron NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 144 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) GAGCTAAGGAGGACACTGAAA 0.353000 10 33 2.61681e-11 4.49409e-11 0.002450 1 0 NME7 29922 broad.mit.edu 37 1 169292473 169292473 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:169292473T>A ENST00000367811.3 - 3 416 c.160A>T c.(160-162)Aac>Tac p.N54Y NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.N18Y NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 54 DM10. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) AAGTGCAGGTTATCATATTTG 0.348000 20 164 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237754280 237754280 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:237754280G>A ENST00000366574.2 + 31 4465 c.4148G>A c.(4147-4149)cGt>cAt p.R1383H RYR2_ENST00000360064.6_Missense_Mutation_p.R1381H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1367H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1383 4 X approximate repeats.|B30.2/SPRY 3. 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) AAGCCCTCTCGTCTGAAACAA 0.398000 10 26 0 0 0.008291 0 0 VSTM1 284415 broad.mit.edu 37 19 54561782 54561782 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:54561782C>T ENST00000338372.2 - 3 308 c.133G>A c.(133-135)Gtg>Atg p.V45M VSTM1_ENST00000425006.2_Missense_Mutation_p.V45M|VSTM1_ENST00000376626.1_Missense_Mutation_p.V45M|VSTM1_ENST00000366170.2_Intron NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 45 Ig-like V-type. integral to membrane breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TTCAGGGTCACATTGCTCTCG 0.522000 15 86 0 0 0.002450 0 0 NEURL4 84461 broad.mit.edu 37 17 7221650 7221650 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:7221650C>G ENST00000399464.2 - 24 3905 c.3890G>C c.(3889-3891)gGg>gCg p.G1297A NEURL4_ENST00000315614.7_Missense_Mutation_p.G1295A|NEURL4_ENST00000570460.1_Missense_Mutation_p.G1273A|NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.G111R NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACTGGCAGCCCCTGGCTCAGG 0.602000 49 73 0 0 0.003610 0 0 TENM2 57451 broad.mit.edu 37 5 167645193 167645193 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:167645193G>T ENST00000519204.1 + 22 4052 c.3934G>T c.(3934-3936)Gag>Tag p.E1312* TENM2_ENST00000518659.1_Nonsense_Mutation_p.E1433*|TENM2_ENST00000520394.1_Nonsense_Mutation_p.E1194*|TENM2_ENST00000403607.2_Nonsense_Mutation_p.E1257*|TENM2_ENST00000545108.1_Nonsense_Mutation_p.E1432* teneurin transmembrane protein 2 GTATGTTCTAGAGAACAATGT 0.493000 21 96 7.41877e-09 1.17217e-08 0.001882 1 0 EOMES 8320 broad.mit.edu 37 3 27758588 27758588 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:27758588C>A ENST00000295743.4 - 6 2237 c.2034G>T c.(2032-2034)ggG>ggT p.G678G EOMES_ENST00000449599.1_Silent_p.G697G|EOMES_ENST00000537516.1_Silent_p.G402G O95936 EOMES_HUMAN eomesodermin 678 Required for transcription activation (By similarity). CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 AAGCATAATACCCTCCCATGC 0.368000 7 54 0.00198382 0.00245517 0.001984 1 0 EML5 161436 broad.mit.edu 37 14 89205241 89205241 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:89205241T>C ENST00000554922.1 - 6 1077 c.829A>G c.(829-831)Aca>Gca p.T277A EML5_ENST00000380664.5_Missense_Mutation_p.T277A|EML5_ENST00000352093.5_Missense_Mutation_p.T277A NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 277 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCCTGGTCTGTTTCCCTGAGA 0.363000 5 11 0 0 0.000602 0 0 PRR5 55615 broad.mit.edu 37 22 45110519 45110519 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:45110519C>A ENST00000403581.1 + 4 861 c.252C>A c.(250-252)gaC>gaA p.D84E PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.D61E|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.D52E|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.D61E|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.D61E|PRR5_ENST00000336985.6_Missense_Mutation_p.D61E NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GGCTGCCCGACCAGGAGCTCT 0.647000 13 45 6.72482e-11 1.11453e-10 0.003163 1 0 NPHS2 7827 broad.mit.edu 37 1 179521776 179521776 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:179521776C>A ENST00000367615.4 - 7 903 c.835G>T c.(835-837)Gct>Tct p.A279S AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.A211S NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 279 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GCCTCCACAGCCAGTGAGTGC 0.522000 7 53 0.00621372 0.00751352 0.006214 1 0 POTEG 404785 broad.mit.edu 37 14 19553735 19553735 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:19553735C>T ENST00000409832.3 + 1 371 c.319C>T c.(319-321)Ccc>Tcc p.P107S NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 107 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CCACTGCTTCCCCTGCTGCAG 0.602000 78 895 0 0 0.003610 0 0 DNAH9 1770 broad.mit.edu 37 17 11666872 11666872 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:11666872G>C ENST00000262442.3 + 36 7179 c.7111G>C c.(7111-7113)Gag>Cag p.E2371Q DNAH9_ENST00000454412.2_Missense_Mutation_p.E2371Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2371 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGAAATTTATGAGCATTATTT 0.498000 21 38 0 0 0.001523 0 0 SLC12A2 6558 broad.mit.edu 37 5 127488418 127488418 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:127488418A>T ENST00000262461.2 + 15 2473 c.2284A>T c.(2284-2286)Aca>Tca p.T762S SLC12A2_ENST00000343225.4_Missense_Mutation_p.T762S NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 762 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGGATCCTCTACACAAGCCCT 0.403000 13 67 0 0 0.002450 0 0 IL7R 3575 broad.mit.edu 37 5 35871289 35871289 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:35871289C>A ENST00000303115.3 + 4 640 c.511C>A c.(511-513)Cag>Aag p.Q171K IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K|IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 171 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) AGCTTACCGCCAGGAAAAGGA 0.348000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 10 30 5.50884e-06 7.50342e-06 0.001368 1 0 TM4SF18 116441 broad.mit.edu 37 3 149040216 149040216 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:149040216T>A ENST00000296059.2 - 5 683 c.418A>T c.(418-420)Aca>Tca p.T140S RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.T140S NM_138786.3 NP_620141.1 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 140 integral to membrane lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTAGAATCTGTAAGGAAACTG 0.398000 7 22 0 0 0.006214 0 0 FAM160A2 84067 broad.mit.edu 37 11 6238611 6238611 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:6238611C>G ENST00000265978.4 - 9 2605 c.2247G>C c.(2245-2247)caG>caC p.Q749H FAM160A2_ENST00000524416.1_Missense_Mutation_p.Q735H|FAM160A2_ENST00000449352.2_Missense_Mutation_p.Q735H NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 735 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAGTGAAGGGCTGGCTTGGCA 0.567000 9 25 0 0 0.006214 0 0 TAF4 6874 broad.mit.edu 37 20 60581652 60581652 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:60581652C>T ENST00000252996.3 - 7 2136 c.2137G>A c.(2137-2139)Gtg>Atg p.V713M TAF4_ENST00000488539.1_5'UTR NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 713 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GCACTGGTCACGGTGGCCGCC 0.726000 9 12 0 0 0.004482 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255495 140255495 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:140255495G>A ENST00000398631.2 + 1 438 c.438G>A c.(436-438)gcG>gcA p.A146A PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAATCTGCGCCTCTGGACT 0.483000 24 71 0 0 0.003330 0 0 DENND1B 163486 broad.mit.edu 37 1 197522116 197522116 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:197522116G>T ENST00000235453.4 - 16 1463 c.1186C>A c.(1186-1188)Caa>Aaa p.Q396K DENND1B_ENST00000367396.3_Missense_Mutation_p.Q426K|DENND1B_ENST00000400967.2_Missense_Mutation_p.Q396K Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 426 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 AATTGTTATTGAGAAAATGGA 0.318000 5 35 0.000602214 0.000769406 0.000602 1 0 SPANXN2 494119 broad.mit.edu 37 X 142795344 142795344 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:142795344C>G ENST00000370498.1 - 2 1087 c.334G>C c.(334-336)Gac>Cac p.D112H NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 112 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGGTCTTCGTCCTCCTGTGAA 0.527000 48 384 0 0 0.003610 0 0 GOLGA4 2803 broad.mit.edu 37 3 37360619 37360619 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:37360619G>C ENST00000361924.2 + 12 1853 c.1479G>C c.(1477-1479)gaG>gaC p.E493D GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E515D|GOLGA4_ENST00000435830.2_3'UTR NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 493 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCAGAAAAGAGCAGGAACTGA 0.383000 13 29 0 0 0.001368 0 0 IGLV3-32 28787 broad.mit.edu 37 22 22937243 22937243 + RNA SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:22937243G>T ENST00000390303.2 + 0 100 TATTTCCTCTGGGCCAACTCA 0.562000 OREG0026367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 22 2.27111e-07 3.38524e-07 0.001368 1 0 NDRG4 65009 broad.mit.edu 37 16 58537747 58537747 + Silent SNP C C A rs145564006 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:58537747C>A ENST00000394282.4 + 4 630 c.223C>A c.(223-225)Cgg>Agg p.R75R NDRG4_ENST00000563799.1_Silent_p.R23R|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Silent_p.R41R|NDRG4_ENST00000258187.5_Silent_p.R55R|NDRG4_ENST00000566192.1_Silent_p.R23R|NDRG4_ENST00000356752.4_Silent_p.R53R|NDRG4_ENST00000394279.2_Silent_p.R55R|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Silent_p.R23R|NDRG4_ENST00000562999.1_Silent_p.R23R NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 23 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 TGTAGTGATCCGGGGCTCCCC 0.627000 22 20 1.85244e-09 2.98659e-09 0.003330 1 0 NEBL 10529 broad.mit.edu 37 10 21115394 21115394 + Missense_Mutation SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:21115394A>C ENST00000377122.4 - 18 2247 c.1851T>G c.(1849-1851)aaT>aaG p.N617K NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 617 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TATTCTGCTGATTTTTCTTCA 0.323000 8 90 0 0 0.006214 0 0 TSHB 7252 broad.mit.edu 37 1 115576107 115576107 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:115576107A>G ENST00000256592.1 + 2 192 c.124A>G c.(124-126)Atc>Gtc p.I42V TSHB_ENST00000369517.1_Missense_Mutation_p.I42V NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 42 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TTGCCTAACCATCAACACCAC 0.418000 12 65 0 0 0.001368 0 0 NAV1 89796 broad.mit.edu 37 1 201749685 201749685 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:201749685G>A ENST00000367296.4 + 4 1783 c.1363G>A c.(1363-1365)Gtg>Atg p.V455M NAV1_ENST00000367297.4_Missense_Mutation_p.V455M|NAV1_ENST00000367295.1_Missense_Mutation_p.V64M|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.V455M|NAV1_ENST00000367302.1_Missense_Mutation_p.V468M|NAV1_ENST00000295624.6_Missense_Mutation_p.V455M NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 455 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CTCAACAATAGTGGTACGTGA 0.498000 21 65 0 0 0.003330 0 0 LPPR4 9890 broad.mit.edu 37 1 99771281 99771281 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:99771281G>A ENST00000370185.3 + 7 1504 c.1007G>A c.(1006-1008)aGt>aAt p.S336N LPPR4_ENST00000370184.1_Missense_Mutation_p.S178N|LPPR4_ENST00000457765.1_Missense_Mutation_p.S278N NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 336 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AGTGATGAGAGTATGTTTCAG 0.448000 11 96 0 0 0.001368 0 0 TEKT1 83659 broad.mit.edu 37 17 6718555 6718555 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:6718555C>T ENST00000338694.2 - 5 685 c.556G>A c.(556-558)Gat>Aat p.D186N TEKT1_ENST00000535086.1_Missense_Mutation_p.D40N NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 186 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) AAGCAGATATCATCTATGGTC 0.478000 20 71 0 0 0.002299 0 0 KRT6B 3854 broad.mit.edu 37 12 52845777 52845777 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:52845777C>A ENST00000252252.3 - 1 133 c.86G>T c.(85-87)aGc>aTc p.S29I NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 29 Head. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GCCAGAGCGGCTGACCCCAGG 0.647000 22 32 4.22769e-11 7.15688e-11 0.006320 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877815 76877815 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:76877815C>A ENST00000328299.3 + 3 484 c.336C>A c.(334-336)acC>acA p.T112T 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 3 112 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 ATGCCCCCACCAAAGGTTATG 0.453000 24 48 1.04121e-07 1.5972e-07 0.005443 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913735 77913735 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:77913735G>T ENST00000321110.1 - 2 478 c.183C>A c.(181-183)ccC>ccA p.P61P NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 61 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGAGCTTCTGGGGCTCCTTGG 0.567000 9 27 3.09899e-07 4.59037e-07 0.004482 1 0 RLIM 51132 broad.mit.edu 37 X 73811943 73811943 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:73811943G>T ENST00000332687.6 - 4 1425 c.1207C>A c.(1207-1209)Cag>Aag p.Q403K RLIM_ENST00000349225.2_Missense_Mutation_p.Q403K NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 403 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AACATGGTCTGAATTGCAACA 0.413000 13 74 2.27111e-07 3.38524e-07 0.001368 1 0 TRAPPC8 22878 broad.mit.edu 37 18 29447398 29447398 + Silent SNP T T G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:29447398T>G ENST00000283351.4 - 17 2765 c.2430A>C c.(2428-2430)tcA>tcC p.S810S TRAPPC8_ENST00000582539.1_Silent_p.S756S NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 810 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTAAGAACTCTGAAATAACTT 0.264000 6 15 0 0 0.004482 0 0 KRT31 3881 broad.mit.edu 37 17 39553599 39553599 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39553599C>G ENST00000251645.2 - 1 245 c.193G>C c.(193-195)Gac>Cac p.D65H NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 65 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCCAGGCGGTCGTTCAGGAAC 0.617000 40 97 0 0 0.003214 0 0 GPR141 353345 broad.mit.edu 37 7 37780252 37780252 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:37780252C>A ENST00000447769.1 + 4 546 c.257C>A c.(256-258)cCc>cAc p.P86H GPR141_ENST00000334425.1_Missense_Mutation_p.P86H|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 86 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TTTGGGCTGCCCTTCTGCAAA 0.483000 20 37 2.94398e-08 4.59029e-08 0.007413 1 0 CACNA1E 777 broad.mit.edu 37 1 181693670 181693670 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:181693670C>A ENST00000526775.1 + 17 2304 c.2139C>A c.(2137-2139)acC>acA p.T713T CACNA1E_ENST00000367570.1_Silent_p.T713T|CACNA1E_ENST00000357570.5_Silent_p.T664T|CACNA1E_ENST00000358338.5_Silent_p.T664T|CACNA1E_ENST00000367573.2_Silent_p.T713T|CACNA1E_ENST00000360108.3_Silent_p.T713T|CACNA1E_ENST00000367567.4_Silent_p.T320T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 713 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AGGAACTGACCAAGGTAAGCA 0.463000 7 18 1.06961e-07 1.63547e-07 0.003080 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764905 77764905 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:77764905T>C ENST00000521891.2 + 10 6196 c.5748T>C c.(5746-5748)ttT>ttC p.F1916F ZFHX4_ENST00000455469.2_Silent_p.F1871F|ZFHX4_ENST00000050961.6_Silent_p.F1871F|ZFHX4_ENST00000518282.1_Silent_p.F1890F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1871 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) TGGAAAACTTTGGTTTTGAAC 0.443000 HNSCC(33;0.089) 14 41 0 0 0.001855 0 0 NPHS2 7827 broad.mit.edu 37 1 179521777 179521777 + Silent SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:179521777C>G ENST00000367615.4 - 7 902 c.834G>C c.(832-834)ctG>ctC p.L278L AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Silent_p.L210L NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 278 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 CCTCCACAGCCAGTGAGTGCT 0.527000 7 51 0 0 0.006214 0 0 ARX 170302 broad.mit.edu 37 X 25031161 25031161 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:25031161G>T ENST00000379044.4 - 2 1161 c.951C>A c.(949-951)agC>agA p.S317R NM_139058.2 NP_620689.1 Q96QS3 ARX_HUMAN aristaless related homeobox 317 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(1) 4 CCTCCGAGTCGCTGCCCGCAG 0.662000 7 11 0.000157383 0.000206647 0.003080 1 0 BICD1 636 broad.mit.edu 37 12 32480553 32480553 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:32480553G>T ENST00000548411.1 + 5 1345 c.1164G>T c.(1162-1164)aaG>aaT p.K388N BICD1_ENST00000281474.5_Missense_Mutation_p.K388N NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 388 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGGAGCTCAAGGCTGAGCTGG 0.587000 10 15 0.000442599 0.000571641 0.006214 1 0 SCD 6319 broad.mit.edu 37 10 102107276 102107276 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:102107276G>T ENST00000370355.2 + 1 396 c.15G>T c.(13-15)ttG>ttT p.L5F NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 5 L -> M (in Ref. 11; AAB30631). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) CGGCCCACTTGCTGCAGGACG 0.682000 12 35 2.31682e-05 3.11981e-05 0.003163 1 0 API5 8539 broad.mit.edu 37 11 43340233 43340233 + Missense_Mutation SNP G G A rs35999189 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:43340233G>A ENST00000378852.3 + 2 238 c.113G>A c.(112-114)gGt>gAt p.G38D API5_ENST00000420461.2_Intron|API5_ENST00000455725.2_Missense_Mutation_p.G27D|API5_ENST00000534695.1_Missense_Mutation_p.G38D|API5_ENST00000534600.1_Missense_Mutation_p.G38D|API5_ENST00000531273.1_Missense_Mutation_p.G38D NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 38 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 GTGAAAGGTGGTACTAAGGAA 0.368000 16 43 0 0 0.004007 0 0 GPM6A 2823 broad.mit.edu 37 4 176594959 176594959 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:176594959C>G ENST00000280187.7 - 4 304 c.259G>C c.(259-261)Ggc>Cgc p.G87R GPM6A_ENST00000506894.1_Missense_Mutation_p.G76R|GPM6A_ENST00000515090.1_Missense_Mutation_p.G80R|GPM6A_ENST00000393658.2_Missense_Mutation_p.G87R NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 87 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) GCTGCGATGCCGTAGATCACA 0.398000 6 14 0 0 0.001168 0 0 SLC34A2 10568 broad.mit.edu 37 4 25669599 25669599 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:25669599G>A ENST00000382051.3 + 6 671 c.621G>A c.(619-621)cgG>cgA p.R207R SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.R206R|SLC34A2_ENST00000503434.1_Silent_p.R206R 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 2 207 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) TGGGAGATCGGAGTGAGTTCA 0.498000 T ROS1 NSCLC 34 11 0 0 0.005524 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917135 42917135 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:42917135C>T ENST00000316161.4 - 1 498 c.174G>A c.(172-174)aaG>aaA p.K58K KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.K58K|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 58 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) TCCTCATGCGCTTCAGAAATT 0.572000 17 26 0 0 0.006122 0 0 TRIM3 10612 broad.mit.edu 37 11 6478952 6478952 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:6478952C>A ENST00000525074.1 - 4 883 c.489G>T c.(487-489)caG>caT p.Q163H TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Missense_Mutation_p.Q163H|TRIM3_ENST00000345851.3_Missense_Mutation_p.Q163H|TRIM3_ENST00000359518.3_Missense_Mutation_p.Q163H|TRIM3_ENST00000536344.1_Missense_Mutation_p.Q44H NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 163 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGAGCTGGCGCTGCAGGGCCG 0.677000 15 41 3.27435e-08 5.08867e-08 0.002450 1 0 CELSR1 9620 broad.mit.edu 37 22 46762935 46762935 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:46762935C>A ENST00000262738.3 - 29 8159 c.8160G>T c.(8158-8160)aaG>aaT p.K2720N NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2720 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCAGGTGCAGCTTCCTCCCGC 0.706000 OREG0026655 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 11 1.12685e-05 1.53045e-05 0.004482 1 0 DDX11 1663 broad.mit.edu 37 12 31242051 31242051 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:31242051A>T ENST00000407793.2 + 7 1009 c.758A>T c.(757-759)aAg>aTg p.K253M DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.K227M|DDX11_ENST00000545668.1_Missense_Mutation_p.K253M|DDX11_ENST00000542838.1_Missense_Mutation_p.K253M|DDX11_ENST00000350437.4_Missense_Mutation_p.K253M NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 253 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCTTTGGCAAGGATGTTCGG 0.537000 Multiple Myeloma(12;0.14) 20 44 0 0 0.002299 0 0 FAM49A 81553 broad.mit.edu 37 2 16742303 16742303 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:16742303C>G ENST00000381323.3 - 9 885 c.665G>C c.(664-666)tGc>tCc p.C222S FAM49A_ENST00000406434.1_Missense_Mutation_p.C222S|FAM49A_ENST00000355549.2_Missense_Mutation_p.C222S NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 222 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TGTGCTGAGGCAGTCTGTGGT 0.428000 15 43 0 0 0.006122 0 0 C12orf40 283461 broad.mit.edu 37 12 40115022 40115022 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:40115022C>A ENST00000324616.5 + 13 2082 c.1928C>A c.(1927-1929)aCt>aAt p.T643N NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 643 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GCAGATACCACTGGAGGGCAG 0.358000 14 28 1.3612e-06 1.94928e-06 0.003163 1 0 FAT2 2196 broad.mit.edu 37 5 150928985 150928985 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:150928985G>T ENST00000261800.5 - 8 4672 c.4660C>A c.(4660-4662)Cgc>Agc p.R1554S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1554 Cadherin 13. 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) TGAGTGAAGCGGGGTGGGTGG 0.572000 9 35 1.58986e-06 2.25627e-06 0.008291 1 0 MYH10 4628 broad.mit.edu 37 17 8455408 8455408 + Missense_Mutation SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:8455408T>C ENST00000360416.3 - 9 1013 c.875A>G c.(874-876)cAt>cGt p.H292R MYH10_ENST00000379980.4_Missense_Mutation_p.H298R|MYH10_ENST00000269243.4_Missense_Mutation_p.H282R|MYH10_ENST00000396239.1_Missense_Mutation_p.H282R NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 282 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GTAAAAGATATGAAAAGTACG 0.303000 5 17 0 0 0.001984 0 0 SYT13 57586 broad.mit.edu 37 11 45277237 45277237 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:45277237A>T ENST00000020926.3 - 2 500 c.389T>A c.(388-390)cTg>cAg p.L130Q NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 130 transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 GAGGATGAACAGCTCCTCTGT 0.582000 6 25 0 0 0.001984 0 0 USP48 84196 broad.mit.edu 37 1 22078009 22078009 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:22078009T>C ENST00000308271.9 - 6 1413 c.765A>G c.(763-765)gaA>gaG p.E255E USP48_ENST00000529637.1_Silent_p.E255E|USP48_ENST00000421625.2_Silent_p.E255E|USP48_ENST00000400301.1_Silent_p.E255E NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 255 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CCTTCAAAAATTCCGAGATAC 0.368000 8 76 0 0 0.004482 0 0 HOXA10 3206 broad.mit.edu 37 7 27213842 27213842 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:27213842A>G ENST00000283921.4 - 1 83 c.84T>C c.(82-84)tcT>tcC p.S28S RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 28 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 CGACCAAAAAAGAGTTCGCGG 0.622000 12 30 0 0 0.004990 0 0 ZWINT 11130 broad.mit.edu 37 10 58119454 58119454 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:58119454C>A ENST00000373944.3 - 4 455 c.417G>T c.(415-417)caG>caT p.Q139H ZWINT_ENST00000318387.2_Missense_Mutation_p.Q19H|ZWINT_ENST00000361148.6_Missense_Mutation_p.Q139H|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.Q139H O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 139 Interaction with NDC80 and ZW10. cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GTACCTTGGCCTGGAGCTGCT 0.552000 20 212 4.30721e-22 8.87659e-22 0.001523 1 0 FBXL4 26235 broad.mit.edu 37 6 99374673 99374673 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:99374673A>G ENST00000369244.2 - 4 620 c.192T>C c.(190-192)caT>caC p.H64H FBXL4_ENST00000229971.1_Silent_p.H64H Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 64 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CACTTCCATAATGGGAACTGA 0.423000 29 72 0 0 0.002096 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840205 27840205 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:27840205A>T ENST00000356790.2 + 3 1027 c.782A>T c.(781-783)cAg>cTg p.Q261L NM_182506.3 NP_872312.2 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 261 MAGE. NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 CTGGAGTACCAGCAAGTGCCC 0.473000 6 47 0 0 0.001168 0 0 JAG1 182 broad.mit.edu 37 20 10623158 10623158 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:10623158G>C ENST00000254958.5 - 21 3065 c.2550C>G c.(2548-2550)caC>caG p.H850Q JAG1_ENST00000423891.2_Missense_Mutation_p.H691Q NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 850 EGF-like 16; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TGGCACCACTGTGCCCTGGAG 0.537000 Alagille Syndrome 3 27 0 0 0.004672 0 0 CSMD3 114788 broad.mit.edu 37 8 113697849 113697849 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:113697849C>A ENST00000297405.5 - 15 2512 c.2268G>T c.(2266-2268)ggG>ggT p.G756G CSMD3_ENST00000455883.2_Silent_p.G652G|CSMD3_ENST00000352409.3_Silent_p.G756G|CSMD3_ENST00000343508.3_Silent_p.G716G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 756 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTATCCGGCTCCCTGGATCAG 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 73 48 2.10938e-32 4.48361e-32 0.003610 1 0 HERC2 8924 broad.mit.edu 37 15 28465650 28465650 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:28465650C>T ENST00000261609.7 - 37 5901 c.5793G>A c.(5791-5793)ctG>ctA p.L1931L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1931 MIB/HERC2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CAGCAGCCGGCAGCTCTGCCA 0.562000 40 122 0 0 0.008740 0 0 OR52M1 119772 broad.mit.edu 37 11 4566822 4566822 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:4566822T>C ENST00000360213.1 + 1 402 c.402T>C c.(400-402)caT>caC p.H134H NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTACGTCATAGCATGGTGC 0.527000 9 49 0 0 0.004482 0 0 VCAM1 7412 broad.mit.edu 37 1 101188624 101188624 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:101188624G>A ENST00000294728.2 + 3 490 c.389G>A c.(388-390)gGg>gAg p.G130E VCAM1_ENST00000347652.2_Missense_Mutation_p.G130E|VCAM1_ENST00000370115.1_Missense_Mutation_p.G130E|VCAM1_ENST00000370119.4_Missense_Mutation_p.G68E NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 130 Ig-like C2-type 2. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTGGAGGCTGGGAAGCCGATC 0.438000 8 25 0 0 0.003080 0 0 NALCN 259232 broad.mit.edu 37 13 101728232 101728232 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:101728232C>A ENST00000251127.6 - 35 4027 c.3946G>T c.(3946-3948)Gga>Tga p.G1316* NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1316 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACATGTTTTCCACAGATGGAG 0.323000 27 36 1.61788e-16 3.11738e-16 0.002445 1 0 CERS1 10715 broad.mit.edu 37 19 18989736 18989736 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:18989736C>T ENST00000429504.2 - 6 1075 c.1013G>A c.(1012-1014)tGa>tAa p.*338* GDF1_ENST00000247005.6_Intron|CERS1_ENST00000427170.2_Intron|CERS1_ENST00000542296.2_Silent_p.*240* NM_198207.2 NP_937850.1 P27544 CERS1_HUMAN ceramide synthase 1 0 ceramide biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome sphingosine N-acyltransferase activity endometrium(3)|lung(2) 5 CCTCCACACTCACTCGGCTTT 0.642000 6 12 0 0 0.001168 0 0 SCN4A 6329 broad.mit.edu 37 17 62020280 62020280 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:62020280C>T ENST00000578147.1 - 23 4270 c.4194G>A c.(4192-4194)ggG>ggA p.G1398G SCN4A_ENST00000435607.1_Silent_p.G1398G P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1398 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) GCACGCACTCCCCTGTGAAGA 0.517000 34 61 0 0 0.003755 0 0 XKR9 389668 broad.mit.edu 37 8 71646419 71646419 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:71646419G>T ENST00000408926.3 + 5 1416 c.882G>T c.(880-882)agG>agT p.R294S XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.R294S NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 294 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) ATATTGTTAGGGTACTGGGCA 0.323000 9 43 0.000442599 0.000571641 0.006214 1 0 PPP1R21 129285 broad.mit.edu 37 2 48725646 48725646 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:48725646G>T ENST00000294952.8 + 17 1864 c.1707G>T c.(1705-1707)ttG>ttT p.L569F PPP1R21_ENST00000449090.2_Missense_Mutation_p.L538F|PPP1R21_ENST00000281394.4_Missense_Mutation_p.L569F NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 569 endometrium(2)|kidney(4)|lung(9) 15 AACAGAGTTTGGAAAAGATTT 0.358000 12 16 5.50884e-06 7.50342e-06 0.001368 1 0 GSDMB 55876 broad.mit.edu 37 17 38062503 38062503 + Missense_Mutation SNP T T C rs35104165 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:38062503T>C ENST00000394175.2 - 5 906 c.683A>G c.(682-684)gAt>gGt p.D228G GSDMB_ENST00000309481.7_Missense_Mutation_p.D237G|GSDMB_ENST00000418519.1_Missense_Mutation_p.D250G|GSDMB_ENST00000394179.1_Missense_Mutation_p.D245G|GSDMB_ENST00000520542.1_Missense_Mutation_p.D241G|GSDMB_ENST00000360317.3_Missense_Mutation_p.D250G NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 245 cytoplasm p.D228G(2) breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 GTTTCTGGAATCCTCCGAACC 0.478000 6 71 0 0 0.001984 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162584 33162584 + RNA SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:33162584G>T ENST00000510327.1 - 0 346 GTGAAGAATTGCATCGTGCTC 0.522000 15 19 1.15088e-07 1.73731e-07 0.004007 1 0 HPN 3249 broad.mit.edu 37 19 35551631 35551631 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:35551631G>T ENST00000262626.2 + 9 1546 c.721G>T c.(721-723)Ggg>Tgg p.G241W HPN_ENST00000597419.1_Missense_Mutation_p.G83W|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.G241W NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 241 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GGTCTACCACGGGGGCTATCT 0.642000 16 61 8.60227e-14 1.56225e-13 0.004007 1 0 ASPDH 554235 broad.mit.edu 37 19 51015483 51015483 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:51015483A>T ENST00000389208.4 - 6 779 c.718T>A c.(718-720)Ttt>Att p.F240I ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.F135I NM_001114598.1 NP_001108070.1 A6ND91 ASPD_HUMAN aspartate dehydrogenase domain containing 240 NAD biosynthetic process|NADP catabolic process aspartate dehydrogenase activity|NADP binding endometrium(1)|large_intestine(1)|lung(1) 3 TGCACAGCAAAGCTTCGGCCC 0.692000 4 20 0 0 0.000602 0 0 ASPM 259266 broad.mit.edu 37 1 197062214 197062214 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:197062214C>T ENST00000367409.4 - 21 9518 c.9262G>A c.(9262-9264)Gca>Aca p.A3088T ASPM_ENST00000294732.7_Missense_Mutation_p.A1503T|ASPM_ENST00000367408.1_Missense_Mutation_p.A753T NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3088 IQ 37. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CGCACCAGTGCTTGTAGGATA 0.333000 27 27 0 0 0.008361 0 0 KRT40 125115 broad.mit.edu 37 17 39138696 39138696 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39138696G>T ENST00000377755.4 - 3 584 c.550C>A c.(550-552)Ctt>Att p.L184I KRT40_ENST00000398486.2_Missense_Mutation_p.L184I Q6A162 K1C40_HUMAN keratin 40 184 Coil 1B.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) AGCTGGCGAAGGGACAGTTCA 0.517000 34 57 1.30998e-17 2.57648e-17 0.005524 1 0 G6PC 2538 broad.mit.edu 37 17 41063145 41063145 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:41063145C>A ENST00000253801.2 + 5 855 c.776C>A c.(775-777)gCc>gAc p.A259D G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 259 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) ACACCCTTTGCCAGCCTCCTC 0.592000 15 32 0.00316338 0.00386454 0.003163 1 0 SNHG14 104472715 broad.mit.edu 37 15 25453123 25453123 + RNA SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:25453123G>T ENST00000424208.1 + 0 2384 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 AGCTCCTGATGCACTGAAGCT 0.617000 4 46 2.56e-06 3.59006e-06 0.000248 1 0 RPF1 80135 broad.mit.edu 37 1 84956127 84956127 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:84956127T>A ENST00000370654.5 + 5 603 c.588T>A c.(586-588)atT>atA p.I196I NM_025065.6 NP_079341.2 Q9H9Y2 RPF1_HUMAN ribosome production factor 1 homolog (S. cerevisiae) 196 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1) 14 CAGACCTGATTGTTATTAATG 0.358000 17 33 0 0 0.008871 0 0 HHIPL1 84439 broad.mit.edu 37 14 100129283 100129283 + Missense_Mutation SNP G G T rs142621182 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:100129283G>T ENST00000330710.5 + 6 1671 c.1573G>T c.(1573-1575)Ggc>Tgc p.G525C HHIPL1_ENST00000357223.2_Missense_Mutation_p.G525C NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 525 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) CATGGGCCACGGCCAGACCTG 0.582000 17 60 3.52763e-06 4.91793e-06 0.004990 1 0 PAPL 390928 broad.mit.edu 37 19 39592142 39592142 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:39592142C>A ENST00000331256.5 + 11 1352 c.1078C>A c.(1078-1080)Ccg>Acg p.P360T PAPL_ENST00000594229.1_Silent_p.T318T NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 360 extracellular region acid phosphatase activity|metal ion binding CTACACCAACCCGCGAGGGCC 0.572000 12 13 0.00316338 0.00386454 0.003163 1 0 VRK1 7443 broad.mit.edu 37 14 97321607 97321607 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:97321607G>T ENST00000216639.3 + 8 772 c.623G>T c.(622-624)gGa>gTa p.G208V NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 208 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) TGCCCAGAAGGAGTTCATAAA 0.408000 10 86 1.33987e-11 2.30945e-11 0.008291 1 0 B4GALT6 9331 broad.mit.edu 37 18 29205658 29205658 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:29205658C>A ENST00000306851.5 - 9 1364 c.1068G>T c.(1066-1068)agG>agT p.R356S B4GALT6_ENST00000237019.7_Missense_Mutation_p.R317S|B4GALT6_ENST00000383131.3_Missense_Mutation_p.R317S NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 356 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) GTATTTTTGGCCTATATATTA 0.358000 16 25 1.99824e-07 3.00687e-07 0.004990 1 0 FAM27L 284123 broad.mit.edu 37 17 21825561 21825561 + RNA SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:21825561C>A ENST00000426869.3 + 0 265 NR_028336.1 family with sequence similarity 27-like p.R21W(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) caggcctgcccggagggtgtt 0.632000 17 46 2.4624e-09 3.9167e-09 0.008871 1 0 USH2A 7399 broad.mit.edu 37 1 216270486 216270486 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:216270486T>A ENST00000366943.2 - 22 5083 c.4697A>T c.(4696-4698)cAg>cTg p.Q1566L USH2A_ENST00000307340.3_Missense_Mutation_p.Q1566L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1566 Laminin G-like 1. 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) ATACTCTTCCTGATTGCCAGG 0.368000 HNSCC(13;0.011) 6 43 0 0 0.001984 0 0 KREMEN1 83999 broad.mit.edu 37 22 29521313 29521313 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:29521313C>T ENST00000400338.2 + 5 593 c.540C>T c.(538-540)taC>taT p.Y180Y KREMEN1_ENST00000327813.5_Silent_p.Y180Y|KREMEN1_ENST00000400335.4_Silent_p.Y180Y|KREMEN1_ENST00000407188.1_Silent_p.Y178Y Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 178 WSC. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 ACTGGAAGTACGGGGAGGCAG 0.527000 54 74 0 0 0.003610 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189615 11189615 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:11189615G>T ENST00000382435.4 + 1 1219 c.1000G>T c.(1000-1002)Ggg>Tgg p.G334W NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 334 integral to membrane TGAGAGGACAGGGAAGGTGGA 0.502000 27 43 2.44723e-14 4.47872e-14 0.004656 1 0 MMP16 4325 broad.mit.edu 37 8 89198727 89198727 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:89198727G>T ENST00000286614.6 - 3 663 c.382C>A c.(382-384)Cag>Aag p.Q128K MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 128 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TGCTTGTGCTGCCATTTCTGT 0.418000 39 200 4.92203e-23 1.01879e-22 0.006230 1 0 TACC2 10579 broad.mit.edu 37 10 123987490 123987490 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:123987490G>T ENST00000369005.1 + 14 8203 c.7863G>T c.(7861-7863)atG>atT p.M2621I TACC2_ENST00000360561.3_Missense_Mutation_p.M699I|TACC2_ENST00000368999.1_Missense_Mutation_p.M711I|TACC2_ENST00000369001.1_Missense_Mutation_p.M325I|TACC2_ENST00000515603.1_Missense_Mutation_p.M2576I|TACC2_ENST00000453444.2_Missense_Mutation_p.M2625I|TACC2_ENST00000260733.3_Missense_Mutation_p.M699I|TACC2_ENST00000515273.1_Missense_Mutation_p.M2625I|TACC2_ENST00000513429.1_Missense_Mutation_p.M767I|TACC2_ENST00000334433.3_Missense_Mutation_p.M2621I|TACC2_ENST00000369000.1_Missense_Mutation_p.M321I|TACC2_ENST00000358010.1_Missense_Mutation_p.M767I|TACC2_ENST00000369004.3_Missense_Mutation_p.M711I NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2621 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGAGGCCATGGGCTTGGGCA 0.567000 21 76 2.89027e-11 4.91035e-11 0.002299 1 0 OR4S1 256148 broad.mit.edu 37 11 48328158 48328158 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:48328158G>T ENST00000319988.1 + 1 384 c.384G>T c.(382-384)ctG>ctT p.L128L NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 GTAGGCCCCTGCACTACACAG 0.582000 25 66 9.80776e-20 1.99523e-19 0.006320 1 0 PARK2 5071 broad.mit.edu 37 6 162683557 162683557 + Splice_Site SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:162683557C>G ENST00000366898.1 - 3 514 c.412_splice c.e3+1 p.A138_splice PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Splice_Site_p.A138_splice|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Splice_Site_p.A138_splice NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 138 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) TTCCAATTACCTGGACTTCCA 0.488000 10 47 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141130675 141130675 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:141130675T>A ENST00000389484.3 - 69 11641 c.10670A>T c.(10669-10671)cAg>cTg p.Q3557L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3557 LDL-receptor class A 27. 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) ACACCGGAACTGATCTTTGGA 0.368000 TSP Lung(27;0.18) 27 38 0 0 0.005443 0 0 ZNF346 23567 broad.mit.edu 37 5 176471400 176471400 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:176471400G>T ENST00000503039.1 + 5 462 c.458G>T c.(457-459)aGa>aTa p.R153I ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Missense_Mutation_p.R96I|ZNF346_ENST00000511834.1_Missense_Mutation_p.R128I|ZNF346_ENST00000358149.3_Missense_Mutation_p.R128I|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000261948.4_Missense_Mutation_p.R153I Q9UL40 ZN346_HUMAN zinc finger protein 346 128 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) AAGAGCAGCAGAAGCAAAGAC 0.522000 21 40 2.37509e-13 4.28058e-13 0.001523 1 0 SPATA13 221178 broad.mit.edu 37 13 24876744 24876744 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:24876744A>T ENST00000424834.2 + 15 4140 c.3667A>T c.(3667-3669)Agg>Tgg p.R1223W SPATA13_ENST00000382095.4_Missense_Mutation_p.R598W|SPATA13_ENST00000382108.3_Missense_Mutation_p.R1223W|SPATA13_ENST00000409126.1_Missense_Mutation_p.R458W|SPATA13_ENST00000343003.6_Missense_Mutation_p.R542W|SPATA13_ENST00000399949.2_Missense_Mutation_p.R520W Q96N96 SPT13_HUMAN spermatogenesis associated 13 598 cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) AGGCTACAACAGGTGCCCTGT 0.582000 20 85 0 0 0.002780 0 0 OR4C46 119749 broad.mit.edu 37 11 51515998 51515998 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:51515998C>A ENST00000328188.1 + 1 717 c.717C>A c.(715-717)gtC>gtA p.V239V NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 CCACCTGTGTCTCCCACATCA 0.463000 7 64 6.5536e-12 1.14628e-11 0.003080 1 0 MYO7A 4647 broad.mit.edu 37 11 76892594 76892594 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:76892594G>T ENST00000409709.3 + 23 3135 c.2863G>T c.(2863-2865)Ggc>Tgc p.G955C MYO7A_ENST00000409893.1_Missense_Mutation_p.G955C|MYO7A_ENST00000409619.2_Missense_Mutation_p.G944C|MYO7A_ENST00000458637.2_Missense_Mutation_p.G955C NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 955 G -> S (in USH1B). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GACTTCAGGTGGCCTGCCAGG 0.602000 7 22 5.18039e-06 7.09684e-06 0.003080 1 0 NALCN 259232 broad.mit.edu 37 13 101728231 101728231 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:101728231C>G ENST00000251127.6 - 35 4028 c.3947G>C c.(3946-3948)gGa>gCa p.G1316A NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1316 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACATGTTTTCCACAGATGGA 0.323000 25 36 0 0 0.001786 0 0 FBXL4 26235 broad.mit.edu 37 6 99374672 99374672 + Missense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:99374672A>T ENST00000369244.2 - 4 621 c.193T>A c.(193-195)Tat>Aat p.Y65N FBXL4_ENST00000229971.1_Missense_Mutation_p.Y65N Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 65 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TCACTTCCATAATGGGAACTG 0.428000 28 72 0 0 0.001786 0 0 GALP 85569 broad.mit.edu 37 19 56691994 56691994 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:56691994C>T ENST00000357330.2 + 3 209 c.127C>T c.(127-129)Ctg>Ttg p.L43L GALP_ENST00000590002.1_Intron|GALP_ENST00000440823.1_Intron NM_033106.3 NP_149097.1 Q9UBC7 GALP_HUMAN galanin-like peptide 43 neuropeptide signaling pathway extracellular region hormone activity lung(4) 4 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) TGGCTACCTTCTGGGTCCCGG 0.592000 13 31 0 0 0.001855 0 0 SLC35G1 159371 broad.mit.edu 37 10 95661084 95661084 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:95661084G>T ENST00000371408.3 + 3 993 c.932G>T c.(931-933)gGg>gTg p.G311V SLC35G1_ENST00000427197.1_Missense_Mutation_p.G312V Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 312 DUF6 2. integral to membrane GAAAAAGCAGGGCCAGTAGCA 0.408000 14 32 0.00185496 0.00232606 0.001855 1 0 MYO7A 4647 broad.mit.edu 37 11 76924959 76924959 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:76924959A>G ENST00000409709.3 + 48 6765 c.6493A>G c.(6493-6495)Acc>Gcc p.T2165A MYO7A_ENST00000409619.2_Missense_Mutation_p.T2116A|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Missense_Mutation_p.T2125A NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 2165 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAGCGGCAACACCTACTTCCA 0.607000 25 100 0 0 0.007291 0 0 DMXL1 1657 broad.mit.edu 37 5 118440930 118440930 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:118440930A>G ENST00000311085.8 + 4 421 c.341A>G c.(340-342)cAc>cGc p.H114R DMXL1_ENST00000539542.1_Missense_Mutation_p.H114R NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 114 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TCAATAGCACACAATATAACC 0.308000 6 13 0 0 0.001984 0 0 COL6A6 131873 broad.mit.edu 37 3 130290003 130290003 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:130290003C>A ENST00000358511.6 + 6 2774 c.2743C>A c.(2743-2745)Ctc>Atc p.L915I COL6A6_ENST00000453409.2_Missense_Mutation_p.L915I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 915 Nonhelical region.|VWFA 5. 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 CCCCCAAGTCCTCATTGTGAT 0.562000 17 15 0.00400662 0.00488211 0.004007 1 0 KAL1 3730 broad.mit.edu 37 X 8507735 8507735 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:8507735G>A ENST00000262648.3 - 10 1568 c.1419C>T c.(1417-1419)acC>acT p.T473T NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 473 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 CCTCTGATCCGGTTGTTCTGT 0.453000 6 56 0 0 0.001168 0 0 CPD 1362 broad.mit.edu 37 17 28747973 28747973 + Missense_Mutation SNP G G A rs147588955 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:28747973G>A ENST00000225719.4 + 3 1185 c.1109G>A c.(1108-1110)cGt>cAt p.R370H CPD_ENST00000543464.2_Missense_Mutation_p.R123H NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 370 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GAGAACAATCGTGAGTCTTTG 0.398000 10 27 0 0 0.006214 0 0 MCC 4163 broad.mit.edu 37 5 112418664 112418664 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:112418664C>G ENST00000302475.4 - 9 1670 c.1107G>C c.(1105-1107)caG>caC p.Q369H MCC_ENST00000515367.2_Missense_Mutation_p.Q306H|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.Q559H NM_002387.2 NP_002378.1 P23508 CRCM_HUMAN mutated in colorectal cancers 369 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TGGAGCAGTCCTGAAGTGAGT 0.448000 19 29 0 0 0.008871 0 0 ABCC11 85320 broad.mit.edu 37 16 48249175 48249175 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:48249175T>A ENST00000394747.1 - 7 1381 c.1032A>T c.(1030-1032)gaA>gaT p.E344D ABCC11_ENST00000537808.1_Missense_Mutation_p.E344D|ABCC11_ENST00000394748.1_Missense_Mutation_p.E344D|ABCC11_ENST00000353782.5_Missense_Mutation_p.E344D|ABCC11_ENST00000356608.2_Missense_Mutation_p.E344D NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 344 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AAGTGAGAACTTCACTGGTCA 0.448000 6 64 0 0 0.001168 0 0 PFAS 5198 broad.mit.edu 37 17 8172508 8172508 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:8172508G>T ENST00000314666.6 + 28 4076 c.3943G>T c.(3943-3945)Gat>Tat p.D1315Y PFAS_ENST00000545834.1_Missense_Mutation_p.D891Y NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1315 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCTCCATTTGATACTCTGAC 0.642000 13 31 0.000151284 0.000200865 0.001855 1 0 PLEKHM1P 440456 broad.mit.edu 37 17 62796704 62796704 + RNA SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:62796704G>A ENST00000582986.1 - 0 1216 NR_024386.1 AGTACTGCACGTTCACCCACT 0.697000 16 32 0 0 0.004990 0 0 CACNA1S 779 broad.mit.edu 37 1 201046253 201046253 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:201046253T>A ENST00000362061.3 - 12 1848 c.1622A>T c.(1621-1623)tAt>tTt p.Y541F CACNA1S_ENST00000367338.3_Missense_Mutation_p.Y541F NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 541 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGACGTCCAATATCTGAAGGA 0.592000 5 35 0 0 0.001168 0 0 FAM73A 374986 broad.mit.edu 37 1 78269059 78269059 + Nonsense_Mutation SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:78269059A>T ENST00000370791.3 + 4 510 c.478A>T c.(478-480)Aaa>Taa p.K160* FAM73A_ENST00000443751.2_Nonsense_Mutation_p.K122* NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 160 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) ACTTTTCAGTAAATATTCAGG 0.303000 11 14 0 0 0.001368 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18603969 18603969 + RNA SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:18603969G>A ENST00000546162.2 + 0 1312 NR_003569.1 TTGAGCAGCAGAACATGTACA 0.587000 9 28 0 0 0.006214 0 0 C11orf40 143501 broad.mit.edu 37 11 4594548 4594548 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:4594548C>A ENST00000307616.1 - 2 295 c.296G>T c.(295-297)tGc>tTc p.C99F NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 99 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TACCCTAAAGCAAGGTCTTTT 0.488000 22 60 5.35356e-11 8.90381e-11 0.002780 1 0 CACNA1S 779 broad.mit.edu 37 1 201028356 201028356 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:201028356G>T ENST00000362061.3 - 27 3712 c.3486C>A c.(3484-3486)acC>acA p.T1162T CACNA1S_ENST00000367338.3_Silent_p.T1162T NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1162 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCATCTCCAGGGTGAAGATGA 0.582000 27 40 1.17739e-12 2.0824e-12 0.005443 1 0 MYO7A 4647 broad.mit.edu 37 11 76892595 76892595 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:76892595G>T ENST00000409709.3 + 23 3136 c.2864G>T c.(2863-2865)gGc>gTc p.G955V MYO7A_ENST00000409893.1_Missense_Mutation_p.G955V|MYO7A_ENST00000409619.2_Missense_Mutation_p.G944V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G955V NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 955 G -> S (in USH1B). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACTTCAGGTGGCCTGCCAGGC 0.602000 7 22 5.18039e-06 7.09684e-06 0.003080 1 0 PEG3 5178 broad.mit.edu 37 19 57326879 57326879 + Nonsense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:57326879G>T ENST00000326441.9 - 10 3294 c.2931C>A c.(2929-2931)tgC>tgA p.C977* PEG3_ENST00000593695.1_Nonsense_Mutation_p.C851*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.C853*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.C977*|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 977 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TATGAGCAAAGCACTCCCCAC 0.483000 12 92 2.27111e-07 3.38524e-07 0.001368 1 0 COLQ 8292 broad.mit.edu 37 3 15512054 15512054 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:15512054G>T ENST00000383785.2 - 11 831 c.706C>A c.(706-708)Cga>Aga p.R236R COLQ_ENST00000383788.5_Silent_p.R236R|COLQ_ENST00000603808.1_Silent_p.R236R|COLQ_ENST00000383787.2_Silent_p.R227R|COLQ_ENST00000383781.4_Silent_p.R226R|COLQ_ENST00000383786.5_Silent_p.R202R|COLQ_ENST00000435459.2_Silent_p.R226R Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 236 Collagen-like 1.|Heparan sulfate proteoglycan binding (Potential). acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 TGCTTGCCTCGTTTTCCTGGT 0.552000 35 120 1.36161e-19 2.74641e-19 0.004289 1 0 NELL2 4753 broad.mit.edu 37 12 44915854 44915854 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:44915854G>T ENST00000429094.2 - 18 2608 c.2104C>A c.(2104-2106)Cat>Aat p.H702N NELL2_ENST00000549027.1_Missense_Mutation_p.H701N|NELL2_ENST00000333837.4_Missense_Mutation_p.H725N|NELL2_ENST00000437801.2_Missense_Mutation_p.H752N|NELL2_ENST00000395487.2_Missense_Mutation_p.H701N|NELL2_ENST00000452445.2_Missense_Mutation_p.H702N|NELL2_ENST00000551601.1_Missense_Mutation_p.H654N NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 702 VWFC 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCATTTTGATGGAGGCACTGA 0.453000 7 28 1.26484e-09 2.05321e-09 0.003080 1 0 JMJD1C 221037 broad.mit.edu 37 10 64958312 64958312 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:64958312T>A ENST00000399262.2 - 12 5670 c.5452A>T c.(5452-5454)Aca>Tca p.T1818S JMJD1C_ENST00000402544.1_Missense_Mutation_p.T1599S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.T1636S|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1818 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTTCAGATGTTACTAATTGA 0.299000 42 74 0 0 0.002522 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450147 105450147 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:105450147C>A ENST00000337685.2 + 5 1507 c.722C>A c.(721-723)tCa>tAa p.S241* MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.S241*|MUM1L1_ENST00000357175.2_Nonsense_Mutation_p.S241* NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 241 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCACCTTTGTCACCTTTGTCA 0.428000 8 21 5.18039e-06 7.09684e-06 0.003080 1 0 OR2T4 127074 broad.mit.edu 37 1 248524987 248524987 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:248524987G>T ENST00000366475.1 + 1 105 c.105G>T c.(103-105)atG>atT p.M35I NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCACCTGGATGGCCAACCACA 0.478000 32 51 4.74835e-14 8.65662e-14 0.002096 1 0 GPR50 9248 broad.mit.edu 37 X 150348412 150348412 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:150348412C>A ENST00000218316.3 + 2 426 c.357C>A c.(355-357)atC>atA p.I119I NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 119 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) TCTTCAACATCGTGGCAATCG 0.542000 47 83 3.4345e-17 6.6447e-17 0.002852 1 0 ZNF713 349075 broad.mit.edu 37 7 55990971 55990971 + Silent SNP A A C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:55990971A>C ENST00000429591.2 + 2 203 c.165A>C c.(163-165)ctA>ctC p.L55L MRPS17_ENST00000426595.1_Silent_p.L55L|ZNF713_ENST00000482436.1_3'UTR NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 55 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACAGGAATCTAGTTGCACTGG 0.502000 15 74 0 0 0.004990 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436211 72436211 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:72436211G>T ENST00000392627.1 + 2 1557 c.431G>T c.(430-432)gGc>gTc p.G144V GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.G111V|GPRC5C_ENST00000342648.5_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 99 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GGGACCCTGGGCCTCTTCTGC 0.597000 33 70 3.11337e-16 5.95056e-16 0.002836 1 0 SLC30A8 169026 broad.mit.edu 37 8 118165318 118165318 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:118165318G>T ENST00000427715.2 + 6 694 c.260G>T c.(259-261)tGg>tTg p.W87L SLC30A8_ENST00000521243.1_Missense_Mutation_p.W87L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.W136L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.W87L NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 136 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACATTTGGATGGCACCGAGCA 0.512000 4 34 2.56e-06 3.59006e-06 0.000248 1 0 OPRL1 4987 broad.mit.edu 37 20 62729200 62729200 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr20:62729200G>T ENST00000349451.3 + 5 691 c.279G>T c.(277-279)ctG>ctT p.L93L OPRL1_ENST00000336866.2_Silent_p.L93L|OPRL1_ENST00000355631.4_Silent_p.L93L NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 93 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TCTTTAACCTGGCCCTGGCCG 0.572000 47 94 4.0306e-16 7.64201e-16 0.003610 1 0 ANK3 288 broad.mit.edu 37 10 61830089 61830089 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:61830089T>A ENST00000280772.1 - 37 10741 c.10550A>T c.(10549-10551)gAt>gTt p.D3517V ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3517 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.D3517V(1) 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 GAAGTAAGTATCAGGAAACAC 0.423000 19 48 0 0 0.008871 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436210 72436210 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:72436210G>T ENST00000392627.1 + 2 1556 c.430G>T c.(430-432)Ggc>Tgc p.G144C GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.G111C|GPRC5C_ENST00000342648.5_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 99 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 GGGGACCCTGGGCCTCTTCTG 0.597000 33 69 2.42023e-17 4.7016e-17 0.003271 1 0 OR5H6 79295 broad.mit.edu 37 3 97984019 97984019 + Silent SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:97984019A>T ENST00000383696.2 + 1 932 c.891A>T c.(889-891)atA>atT p.I297I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACACTGTCATAGTTCCTTTAT 0.378000 21 30 0 0 0.004656 0 0 CPNE7 27132 broad.mit.edu 37 16 89645307 89645307 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr16:89645307G>T ENST00000268720.5 + 3 530 c.400G>T c.(400-402)Gtt>Ttt p.V134F CPNE7_ENST00000319518.8_Intron NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 134 lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GAGAGTGTCTGTTGATGTGCT 0.557000 12 19 6.40141e-05 8.59566e-05 0.000978 1 0 BTG4 54766 broad.mit.edu 37 11 111368781 111368781 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:111368781G>T ENST00000525791.1 - 3 437 c.253C>A c.(253-255)Cac>Aac p.H85N BTG4_ENST00000356018.2_Missense_Mutation_p.H85N Q9NY30 BTG4_HUMAN B-cell translocation gene 4 85 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) AGTCCCAGGTGAGAAAAATCT 0.403000 20 29 2.4624e-09 3.9167e-09 0.008871 1 0 AFF2 2334 broad.mit.edu 37 X 147733577 147733577 + Silent SNP A A G rs144497911 byFrequency TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:147733577A>G ENST00000370460.2 + 2 584 c.105A>G c.(103-105)caA>caG p.Q35Q AFF2_ENST00000370457.5_Silent_p.Q35Q|AFF2_ENST00000342251.3_Silent_p.Q35Q|AFF2_ENST00000370458.1_Silent_p.Q35Q NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 35 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGAATCAAGAAGTCCAGC 0.363000 28 87 0 0 0.008361 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256753 69256753 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:69256753G>A ENST00000439696.2 - 2 815 c.514C>T c.(514-516)Cgc>Tgc p.R172C ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R172C|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 1 172 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R172C(1) 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) AAGTGGCAGCGGGGCCCGTAG 0.667000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 74 0 0 0.003163 0 0 ZNF551 90233 broad.mit.edu 37 19 58199379 58199379 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:58199379G>C ENST00000282296.5 + 3 1921 c.1736G>C c.(1735-1737)aGa>aCa p.R579T ZNF551_ENST00000356715.4_Missense_Mutation_p.R563T|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron NM_001270938.1 NP_001257867.1 Q7Z340 ZN551_HUMAN zinc finger protein 551 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CAACACCAGAGAGTTCACACT 0.453000 8 78 0 0 0.003080 0 0 ACAP2 23527 broad.mit.edu 37 3 195022774 195022774 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:195022774C>A ENST00000326793.6 - 14 1476 c.1246G>T c.(1246-1248)Gac>Tac p.D416Y NM_012287.5 NP_036419.3 Q15057 ACAP2_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 416 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 AGGCCACAGTCACAACAGCTG 0.542000 36 91 2.51541e-25 5.29913e-25 0.004878 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877814 76877814 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:76877814C>A ENST00000328299.3 + 3 483 c.335C>A c.(334-336)aCc>aAc p.T112N 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 3 112 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 AATGCCCCCACCAAAGGTTAT 0.453000 24 47 1.04121e-07 1.5972e-07 0.005443 1 0 OR5D14 219436 broad.mit.edu 37 11 55563554 55563554 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:55563554G>C ENST00000335605.1 + 1 523 c.523G>C c.(523-525)Gta>Cta p.V175L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGGACCTAATGTAATCAACCA 0.498000 28 134 0 0 0.002096 0 0 RASSF8 11228 broad.mit.edu 37 12 26218312 26218312 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:26218312C>T ENST00000405154.2 + 3 1184 c.985C>T c.(985-987)Cgc>Tgc p.R329C RASSF8_ENST00000381352.3_Missense_Mutation_p.R329C|RASSF8_ENST00000282884.9_Missense_Mutation_p.R329C|RASSF8_ENST00000542865.1_Missense_Mutation_p.R329C|RASSF8_ENST00000541490.1_Missense_Mutation_p.R329C NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 329 signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) AGCCACCAAACGCTTACAGGT 0.408000 21 54 0 0 0.002299 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 10 0 0 0.004672 0 0 IGLON5 402665 broad.mit.edu 37 19 51826946 51826946 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:51826946G>T ENST00000270642.8 + 3 189 c.189G>T c.(187-189)gtG>gtT p.V63V NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 63 Ig-like C2-type 1. extracellular region large_intestine(5)|lung(6)|prostate(1) 12 TGACCCGCGTGGCCTGGCTGA 0.642000 7 27 8.12818e-05 0.000108224 0.001984 1 0 SLC14A2 8170 broad.mit.edu 37 18 43204731 43204731 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:43204731C>T ENST00000255226.6 + 2 918 c.102C>T c.(100-102)tcC>tcT p.S34S SLC14A2_ENST00000586448.1_Silent_p.S34S NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 34 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 CCTCGACATCCCCGGATACTC 0.572000 13 34 0 0 0.002450 0 0 SYT7 9066 broad.mit.edu 37 11 61291321 61291321 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:61291321G>A ENST00000263846.4 - 7 1212 c.885C>T c.(883-885)gcC>gcT p.A295A SYT7_ENST00000542836.1_Silent_p.A339A|SYT7_ENST00000542670.1_Silent_p.A503A|SYT7_ENST00000540677.1_Silent_p.A370A|SYT7_ENST00000539008.1_Silent_p.A578A|SYT7_ENST00000535826.1_Silent_p.A414A NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 295 C2 2. 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 CGATGTCCATGGCTTTGAGGT 0.607000 119 185 0 0 0.003610 0 0 AFF4 27125 broad.mit.edu 37 5 132228047 132228047 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:132228047C>A ENST00000265343.5 - 13 2825 c.2446G>T c.(2446-2448)Gct>Tct p.A816S AFF4_ENST00000378595.3_Missense_Mutation_p.A816S NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 816 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACAGGCCCAGCGGGAGAAGGC 0.448000 26 83 9.86323e-18 1.94799e-17 0.003954 1 0 NKAP 79576 broad.mit.edu 37 X 119059199 119059199 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:119059199C>A ENST00000371410.3 - 9 1398 c.1232G>T c.(1231-1233)gGg>gTg p.G411V NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 411 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 GTCATCCTTCCCTTTGGTCTT 0.368000 20 94 4.35082e-09 6.89728e-09 0.001523 1 0 PCDHB16 57717 broad.mit.edu 37 5 140562299 140562299 + Silent SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr5:140562299G>A ENST00000361016.2 + 1 1320 c.165G>A c.(163-165)ggG>ggA p.G55G NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 55 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGGGTTGGGGTTGACAGAGA 0.532000 42 47 0 0 0.008740 0 0 FBXL4 26235 broad.mit.edu 37 6 99374671 99374671 + Missense_Mutation SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:99374671T>A ENST00000369244.2 - 4 622 c.194A>T c.(193-195)tAt>tTt p.Y65F FBXL4_ENST00000229971.1_Missense_Mutation_p.Y65F Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 65 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) CTCACTTCCATAATGGGAACT 0.423000 29 71 0 0 0.002096 0 0 CHRM2 1129 broad.mit.edu 37 7 136699633 136699633 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr7:136699633C>A ENST00000445907.2 + 3 549 c.21C>A c.(19-21)tcC>tcA p.S7S AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.S7S|CHRM2_ENST00000453373.1_Silent_p.S7S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.S7S|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Silent_p.S7S|CHRM2_ENST00000402486.3_Silent_p.S7S NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 7 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CAACAAACTCCTCTAACAATA 0.368000 17 28 3.32936e-07 4.90098e-07 0.006122 1 0 SNHG12 85028 broad.mit.edu 37 1 28905316 28905316 + RNA SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:28905316G>A ENST00000488745.1 - 0 1225 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNORD99_ENST00000408612.1_RNA ACTCAAATTAGGTTTCATCCT 0.473000 44 91 0 0 0.002522 0 0 TRPM1 4308 broad.mit.edu 37 15 31324973 31324973 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:31324973G>T ENST00000542188.1 - 21 3235 c.2922C>A c.(2920-2922)atC>atA p.I974I TRPM1_ENST00000256552.6_Silent_p.I957I|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I935I NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 935 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ACCAGAAGATGATATCCACAC 0.483000 26 53 4.43304e-23 9.21605e-23 0.006320 1 0 PRPS2 5634 broad.mit.edu 37 X 12838875 12838875 + Missense_Mutation SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:12838875A>G ENST00000380668.5 + 6 945 c.817A>G c.(817-819)Aac>Gac p.N273D PRPS2_ENST00000398491.2_Missense_Mutation_p.N276D NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 273 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 TGTCGTCACAAACACAATTCC 0.468000 29 41 0 0 0.008361 0 0 PAXBP1 94104 broad.mit.edu 37 21 34123457 34123457 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:34123457C>A ENST00000331923.4 - 9 1769 c.1580G>T c.(1579-1581)cGt>cTt p.R527L PAXBP1_ENST00000290178.4_Missense_Mutation_p.R527L NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TGCAATGCGACGTTTTGCATG 0.463000 10 41 0.00829132 0.00997483 0.008291 1 0 TRPS1 7227 broad.mit.edu 37 8 116631944 116631944 + Silent SNP T T C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:116631944T>C ENST00000395715.3 - 3 958 c.381A>G c.(379-381)tcA>tcG p.S127S TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Silent_p.S114S|TRPS1_ENST00000520276.1_Silent_p.S118S|TRPS1_ENST00000220888.5_Silent_p.S114S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 114 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) CAGCTGGAGATGAGAAAGCCA 0.532000 Langer-Giedion syndrome 17 84 0 0 0.004990 0 0 CDH19 28513 broad.mit.edu 37 18 64211367 64211367 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr18:64211367G>A ENST00000262150.2 - 7 1347 c.1055C>T c.(1054-1056)gCt>gTt p.A352V CDH19_ENST00000540086.1_Missense_Mutation_p.A352V NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 352 Cadherin 3. 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) AGTGGTGGAAGCCTCAGTGTG 0.418000 5 28 0 0 0.000602 0 0 AFF2 2334 broad.mit.edu 37 X 147743554 147743554 + Silent SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:147743554G>T ENST00000370460.2 + 3 785 c.306G>T c.(304-306)gtG>gtT p.V102V AFF2_ENST00000370457.5_Silent_p.V98V|AFF2_ENST00000342251.3_Silent_p.V98V|AFF2_ENST00000370458.1_Silent_p.V98V NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 102 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AGAATTCTGTGCCCCAGAATC 0.398000 82 117 8.00303e-49 1.74813e-48 0.003610 1 0 PIGS 94005 broad.mit.edu 37 17 26881313 26881313 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:26881313C>T ENST00000308360.7 - 12 1968 c.1593G>A c.(1591-1593)gtG>gtA p.V531V PIGS_ENST00000543734.1_Silent_p.V470V|PIGS_ENST00000395346.2_Silent_p.V523V NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 531 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GGAGGATGGGCACAGCCATAG 0.547000 24 39 0 0 0.005443 0 0 BEST3 144453 broad.mit.edu 37 12 70049315 70049315 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:70049315G>T ENST00000330891.5 - 10 1605 c.1379C>A c.(1378-1380)cCc>cAc p.P460H BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.P354H|BEST3_ENST00000488961.1_Missense_Mutation_p.P247H NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 460 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTGCAGCGTGGGGCTTCCTTC 0.592000 18 44 5.03518e-11 8.40379e-11 0.007413 1 0 PLSCR2 57047 broad.mit.edu 37 3 146177780 146177780 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:146177780C>T ENST00000497985.1 - 4 570 c.131G>A c.(130-132)gGa>gAa p.G44E PLSCR2_ENST00000336685.2_5'UTR NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 0 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 ATGCTGACGTCCTGGGTAGAA 0.567000 6 9 0 0 0.001168 0 0 CCL14 6358 broad.mit.edu 37 17 34313569 34313569 + Translation_Start_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:34313569G>T ENST00000480944.2 - 0 471 CCL15-CCL14_ENST00000481427.2_Intron|CCL14_ENST00000394509.4_Intron|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Intron|CCL14_ENST00000536149.1_Intron|CTB-186H2.3_ENST00000591669.1_Splice_Site|CCL14_ENST00000586216.1_Intron Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity large_intestine(1)|lung(6) 7 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTTCCCTGCAGGCTCTAGGTT 0.532000 8 23 0.000157383 0.000206647 0.003080 1 0 PCDH18 54510 broad.mit.edu 37 4 138442189 138442189 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:138442189C>A ENST00000344876.4 - 4 3788 c.3402G>T c.(3400-3402)caG>caT p.Q1134H PCDH18_ENST00000510305.1_Missense_Mutation_p.Q345H|PCDH18_ENST00000507846.1_Missense_Mutation_p.Q913H|PCDH18_ENST00000511115.1_Missense_Mutation_p.Q314H|PCDH18_ENST00000412923.2_Missense_Mutation_p.Q1133H NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1134 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCTCCTAGCTCTGGCGGACAT 0.418000 16 44 2.32078e-09 3.71639e-09 0.003163 1 0 SLC4A4 8671 broad.mit.edu 37 4 72400105 72400105 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:72400105G>T ENST00000340595.3 + 15 2506 c.2310_splice c.e15+1 p.K770_splice SLC4A4_ENST00000264485.5_Splice_Site_p.K814_splice|SLC4A4_ENST00000425175.1_Splice_Site_p.K814_splice|SLC4A4_ENST00000351898.6_Splice_Site_p.K814_splice NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 814 Interaction with CA4. basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATAAACTCAAGGTAAGTGTCC 0.378000 10 25 0.00829132 0.00997483 0.008291 1 0 TNR 7143 broad.mit.edu 37 1 175355258 175355258 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:175355258C>G ENST00000367674.1 - 8 2395 c.1687G>C c.(1687-1689)Gcc>Ccc p.A563P TNR_ENST00000263525.2_Missense_Mutation_p.A563P NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 563 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGCCGCAGGGCCTGCACTGAG 0.592000 34 66 0 0 0.002096 0 0 PLCE1 51196 broad.mit.edu 37 10 96068457 96068457 + Splice_Site SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:96068457G>T ENST00000260766.3 + 27 6637 c.e27+1 PLCE1_ENST00000371375.1_Splice_Site|PLCE1_ENST00000371385.3_Splice_Site|PLCE1_ENST00000371380.2_Splice_Site NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGCCTCTTCGGTAATGAAGTT 0.408000 20 64 3.8784e-16 7.38299e-16 0.001882 1 0 DISP2 85455 broad.mit.edu 37 15 40657403 40657403 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:40657403G>A ENST00000267889.3 + 6 862 c.775G>A c.(775-777)Gct>Act p.A259T NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 259 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCAGGAGAGCGCTGTCCGGCC 0.597000 13 68 0 0 0.001368 0 0 NRXN1 9378 broad.mit.edu 37 2 50724812 50724812 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:50724812G>T ENST00000404971.1 - 15 3997 c.2658C>A c.(2656-2658)aaC>aaA p.N886K NRXN1_ENST00000401669.2_Missense_Mutation_p.N846K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.N838K|NRXN1_ENST00000402717.3_Missense_Mutation_p.N838K|NRXN1_ENST00000406859.3_Missense_Mutation_p.N846K|NRXN1_ENST00000406316.2_Missense_Mutation_p.N846K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 846 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAGTCTCTATGTTATGGAACT 0.403000 26 50 4.43304e-23 9.21605e-23 0.006320 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 6 35 0 0 0.008291 0 0 ACVR1C 130399 broad.mit.edu 37 2 158406824 158406824 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:158406824C>T ENST00000243349.7 - 4 985 c.625G>A c.(625-627)Gtg>Atg p.V209M ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000335450.7_Missense_Mutation_p.V129M|ACVR1C_ENST00000409680.3_Missense_Mutation_p.V159M NM_145259.2 NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC 209 Protein kinase. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CCATGCCACACCTCACCAAAT 0.438000 19 117 0 0 0.007413 0 0 FHL1 2273 broad.mit.edu 37 X 135291445 135291445 + Silent SNP T T A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chrX:135291445T>A ENST00000394155.2 + 7 1061 c.732T>A c.(730-732)gcT>gcA p.A244A FHL1_ENST00000535737.1_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000345434.3_Silent_p.A244A|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000370683.1_Intron NM_001159702.2 NP_001153174.1 Q13642 FHL1_HUMAN four and a half LIM domains 1 244 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(192;0.000127) TCTCTAAAGCTAGGAAGCCCC 0.572000 OREG0019943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 38 0 0 0.000602 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286256 11286256 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:11286256C>A ENST00000539585.1 - 1 987 c.588G>T c.(586-588)ctG>ctT p.L196L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 AGATTAACAGCAGAAAAGATA 0.418000 57 183 3.89483e-19 7.82266e-19 0.003610 1 0 NRROS 375387 broad.mit.edu 37 3 196387130 196387130 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:196387130G>C ENST00000328557.4 + 3 819 c.616G>C c.(616-618)Gag>Cag p.E206Q NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CGGCCTGGCTGAGCTGAGGCA 0.632000 14 26 0 0 0.003163 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883255 228883255 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:228883255G>A ENST00000392056.3 - 7 2361 c.2315C>T c.(2314-2316)tCt>tTt p.S772F SPHKAP_ENST00000344657.5_Missense_Mutation_p.S772F NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 772 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTAAGTGGAGAGCTGCTGGA 0.502000 25 91 0 0 0.004656 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140743352 140743352 + Missense_Mutation SNP C C G TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:140743352C>G ENST00000389328.4 - 23 3707 c.3693G>C c.(3691-3693)tgG>tgC p.W1231C TRAPPC9_ENST00000389327.3_Missense_Mutation_p.W1124C|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.W1133C NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 1133 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GCAGGCAGAACCAAGAGGGTG 0.657000 12 48 0 0 0.001855 0 0 SOWAHB 345079 broad.mit.edu 37 4 77816994 77816994 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:77816994C>A ENST00000334306.2 - 1 2008 c.2009G>T c.(2008-2010)gGa>gTa p.G670V NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 670 CGGGGTATATCCACAACTGGA 0.532000 30 172 9.65021e-13 1.71962e-12 0.002096 1 0 PCBP2 5094 broad.mit.edu 37 12 53853102 53853102 + Missense_Mutation SNP C C T rs111807426 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr12:53853102C>T ENST00000603815.1 + 6 640 c.290C>T c.(289-291)cCg>cTg p.P97L PCBP2_ENST00000546463.1_Missense_Mutation_p.P97L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Missense_Mutation_p.P97L|PCBP2_ENST00000549863.1_Missense_Mutation_p.P97L|PCBP2_ENST00000548933.1_Missense_Mutation_p.P97L|PCBP2_ENST00000359462.5_Missense_Mutation_p.P97L|PCBP2_ENST00000359282.5_Missense_Mutation_p.P97L|PCBP2_ENST00000439930.3_Missense_Mutation_p.P97L|PCBP2_ENST00000552819.1_Missense_Mutation_p.P97L|PCBP2_ENST00000552296.2_Missense_Mutation_p.P97L|PCBP2_ENST00000455667.3_Missense_Mutation_p.P97L|PCBP2_ENST00000447282.1_Missense_Mutation_p.P97L|PCBP2_ENST00000437231.1_Missense_Mutation_p.P97L NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 97 KH 2. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding p.P97L(2) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 AGTAGACCCCCGGTCACCCTG 0.488000 23 63 0 0 0.003330 0 0 NWD1 284434 broad.mit.edu 37 19 16890214 16890214 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:16890214G>A ENST00000524140.2 + 12 3087 c.2669G>A c.(2668-2670)gGc>gAc p.G890D NWD1_ENST00000339803.6_Missense_Mutation_p.G755D|NWD1_ENST00000552788.1_Missense_Mutation_p.G890D|NWD1_ENST00000549814.1_Missense_Mutation_p.G890D|NWD1_ENST00000523826.1_Missense_Mutation_p.G684D|NWD1_ENST00000379808.3_Missense_Mutation_p.G890D NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 890 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 ACCCAGGATGGCATCATGGCT 0.552000 OREG0025337 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 58 0 0 0.003271 0 0 BMP5 653 broad.mit.edu 37 6 55623883 55623883 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:55623883C>A ENST00000370830.3 - 6 1833 c.1135G>T c.(1135-1137)Gca>Tca p.A379S BMP5_ENST00000446683.2_Intron NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 379 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CAATAAAATGCAGCGTATCCT 0.348000 18 36 0.00498961 0.00606429 0.004990 1 0 MYH1 4619 broad.mit.edu 37 17 10401191 10401191 + Nonsense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:10401191C>A ENST00000226207.5 - 31 4319 c.4225G>T c.(4225-4227)Gaa>Taa p.E1409* 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 1409 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 TTCACAGCTTCTACATGTTCC 0.458000 8 37 0.000157383 0.000206647 0.003080 1 0 ADCY8 114 broad.mit.edu 37 8 131922105 131922105 + Missense_Mutation SNP G G C TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:131922105G>C ENST00000286355.5 - 6 3581 c.1489C>G c.(1489-1491)Cgg>Ggg p.R497G ADCY8_ENST00000377928.3_Missense_Mutation_p.R497G NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 497 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCCTTGACCGCACATACCTG 0.448000 HNSCC(32;0.087) 65 40 0 0 0.003610 0 0 CTTN 2017 broad.mit.edu 37 11 70282409 70282409 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:70282409G>T ENST00000376561.3 + 19 1971 c.1800G>T c.(1798-1800)agG>agT p.R600S CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR NM_001184740.1 NP_001171669.1 Q14247 SRC8_HUMAN cortactin 0 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) CCTTCCTGAGGAGCCGGGAGG 0.602000 26 72 7.92952e-12 1.38184e-11 0.003954 1 0 LTBP1 4052 broad.mit.edu 37 2 33498809 33498809 + Missense_Mutation SNP G G A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr2:33498809G>A ENST00000404816.2 + 16 3057 c.2704G>A c.(2704-2706)Gag>Aag p.E902K LTBP1_ENST00000402934.1_Missense_Mutation_p.E523K|LTBP1_ENST00000407925.1_Missense_Mutation_p.E576K|LTBP1_ENST00000354476.3_Missense_Mutation_p.E903K|LTBP1_ENST00000390003.4_Missense_Mutation_p.E577K|LTBP1_ENST00000418533.2_Missense_Mutation_p.E576K|LTBP1_ENST00000404525.1_Missense_Mutation_p.E523K Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 902 EGF-like 4; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TATATGCTACGAGGGCTACAG 0.348000 8 14 0 0 0.004482 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1506627 1506627 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:1506627C>A ENST00000330475.4 - 11 1519 c.1076G>T c.(1075-1077)cGc>cTc p.R359L ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Intron|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.R369L NM_213604.2 NP_998769.2 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 359 NTR. proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGTGGGCGCGGCCGCGGGT 0.662000 21 8 2.39556e-15 4.48813e-15 0.002780 1 0 LPA 4018 broad.mit.edu 37 6 160953593 160953593 + Missense_Mutation SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr6:160953593C>A ENST00000447678.1 - 39 6051 c.5931G>T c.(5929-5931)gaG>gaT p.E1977D LPA_ENST00000316300.5_Missense_Mutation_p.E1977D|LPA_ENST00000484276.1_Intron NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4485 Kringle 18. 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) TGGCCAAATGCTCAGCACAAA 0.453000 15 32 1.05317e-09 1.72139e-09 0.002450 1 0 DOCK3 1795 broad.mit.edu 37 3 51251551 51251551 + Splice_Site SNP A A T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:51251551A>T ENST00000266037.9 + 14 1149 c.e14-1 NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 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) TTGTTTTTGCAGGTCTTATCA 0.363000 5 15 0 0 0.001984 0 0 CEP128 145508 broad.mit.edu 37 14 81371171 81371171 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr14:81371171C>T ENST00000555265.1 - 6 841 c.466G>A c.(466-468)Gat>Aat p.D156N CEP128_ENST00000281129.3_Missense_Mutation_p.D156N|CEP128_ENST00000327841.2_Missense_Mutation_p.D96N|CEP128_ENST00000216517.6_Missense_Mutation_p.D156N Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 156 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 GTCATATCATCAGTCTCTTGA 0.393000 36 41 0 0 0.004878 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781777 128781777 + Silent SNP C C A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:128781777C>A ENST00000529694.1 + 2 985 c.609C>A c.(607-609)tcC>tcA p.S203S KCNJ5_ENST00000338350.4_Silent_p.S203S|KCNJ5_ENST00000533599.1_Silent_p.S203S NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 203 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCATGTTTTCCAACAACGCAG 0.592000 7 65 8.12818e-05 0.000108224 0.001984 1 0 OR5M1 390168 broad.mit.edu 37 11 56380513 56380513 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:56380513C>T ENST00000526538.1 - 1 465 c.466G>A c.(466-468)Ggg>Agg p.G156R NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TGAGAGAACCCACTAAGAAAC 0.458000 12 41 0 0 0.000978 0 0 VPS13B 157680 broad.mit.edu 37 8 100866131 100866131 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr8:100866131G>T ENST00000358544.2 + 56 10700 c.10589G>T c.(10588-10590)cGg>cTg p.R3530L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R3505L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3530 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) AAACCTGCTCGGTTATACGTG 0.408000 32 115 2.85442e-18 5.66106e-18 0.002096 1 0 ATP7B 540 broad.mit.edu 37 13 52513211 52513211 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr13:52513211C>T ENST00000242839.4 - 17 3831 c.3675G>A c.(3673-3675)aaG>aaA p.K1225K ATP7B_ENST00000344297.5_Silent_p.K1018K|ATP7B_ENST00000417240.2_Silent_p.K436K|ATP7B_ENST00000418097.2_Silent_p.K1160K|ATP7B_ENST00000400370.3_Silent_p.K795K|ATP7B_ENST00000448424.2_Silent_p.K1147K|ATP7B_ENST00000400366.3_Silent_p.K1114K NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1225 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTCTGGCTGTCTTCCGGTTGT 0.542000 Wilson disease 48 67 0 0 0.003610 0 0 HTR1F 3355 broad.mit.edu 37 3 88040472 88040472 + Silent SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:88040472C>T ENST00000319595.4 + 1 627 c.573C>T c.(571-573)taC>taT p.Y191Y NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 191 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GAGCTTTCTACATCCCACTGG 0.413000 13 24 0 0 0.001368 0 0 SLC10A6 345274 broad.mit.edu 37 4 87749282 87749282 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:87749282C>T ENST00000273905.6 - 4 772 c.625G>A c.(625-627)Gca>Aca p.A209T SLC10A6_ENST00000505535.1_Intron NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 209 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) CCAGCAACTGCGACCACCAGA 0.453000 7 46 0 0 0.006214 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 4 5 --- --- --- --- ALDH1L1 10840 broad.mit.edu 37 3 125836866 125836866 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr3:125836866delC ENST00000393434.2 - 17 2313 c.1964delG c.(1963-1965)gcfs p.G655fs ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.G554fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.G665fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.G655fs NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 655 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GATGTGCTTGCCCACCTCTGT 0.632 18 30 --- --- --- --- PCDH7 5099 broad.mit.edu 37 4 30921902 30921903 + Frame_Shift_Ins INS - - A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr4:30921902_30921903insA ENST00000543491.1 + 2 3302_3303 c.3302_3303insA c.(3301-3303)cagfs p.Q1101fs PCDH7_ENST00000509925.1_3'UTR O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TCATCAGGGCCAAGACTGGGTG 0.554 11 43 --- --- --- --- ITGA8 8516 broad.mit.edu 37 10 15713635 15713636 + Frame_Shift_Ins INS - - A TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:15713635_15713636insA ENST00000378076.3 - 8 1166_1167 c.813_814insT c.(811-816)gtctgcfs p.C272fs NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 272 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCCCCAGCAGCAACTGAGTATC 0.371 11 14 --- --- --- --- BMS1 9790 broad.mit.edu 37 10 43316126 43316126 + Frame_Shift_Del DEL A A - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:43316126delA ENST00000374518.4 + 17 3003 c.2940delA c.(2938-2940)gcfs p.A981fs NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 981 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ATTGCGGAGCAGCCTTTTGGG 0.408 11 43 --- --- --- --- PLCE1 51196 broad.mit.edu 37 10 96084675 96084675 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:96084675delC ENST00000260766.3 + 32 7381 c.6747delC c.(6745-6747)ggfs p.G2249fs PLCE1_ENST00000371385.3_Frame_Shift_Del_p.G1941fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.G1941fs|PLCE1_ENST00000464214.1_3'UTR|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371380.2_Frame_Shift_Del_p.G2249fs NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 2249 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAAAGAAAGGCATTTCTTTCG 0.428 26 39 --- --- --- --- TUBGCP2 10844 broad.mit.edu 37 10 135093312 135093312 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr10:135093312delC ENST00000368563.2 - 18 3023 c.2667delG c.(2665-2667)ggfs p.G889fs TUBGCP2_ENST00000543663.1_Frame_Shift_Del_p.G917fs|TUBGCP2_ENST00000368562.1_Frame_Shift_Del_p.G482fs|TUBGCP2_ENST00000417178.2_Frame_Shift_Del_p.G759fs|TUBGCP2_ENST00000252936.3_Frame_Shift_Del_p.G889fs NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 889 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GAGCCGGGGGCCCCCGCAGGA 0.647 5 11 --- --- --- --- ATM 472 broad.mit.edu 37 11 108115600 108115601 + Frame_Shift_Del DEL CG CG - rs56123940 TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:108115600_108115601delCG ENST00000278616.4 + 7 1133_1134 c.748_749delCG c.(748-750)afs p.R250fs ATM_ENST00000452508.2_Frame_Shift_Del_p.R250fs NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 250 R -> Q. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R250*(4) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTTCGAATTCGAGTGTGTGAA 0.337 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 20 63 --- --- --- --- ATM 472 broad.mit.edu 37 11 108186559 108186559 + Frame_Shift_Del DEL T T - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr11:108186559delT ENST00000278616.4 + 41 6401 c.6016delT c.(6016-6018)tafs p.L2006fs ATM_ENST00000452508.2_Frame_Shift_Del_p.L2006fs|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2006 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGATCTTCTCTTAGAAATCTA 0.323 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 13 33 --- --- --- --- KRT19 3880 broad.mit.edu 37 17 39680687 39680688 + Frame_Shift_Ins INS - - T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39680687_39680688insT ENST00000361566.3 - 4 825_826 c.765_766insA c.(763-768)caatgafs p.*256fs NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) ATGACCTCATATTGGCTTCGCA 0.604 13 102 --- --- --- --- LEPREL4 10609 broad.mit.edu 37 17 39964116 39964116 + Frame_Shift_Del DEL G G - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr17:39964116delG ENST00000355468.3 - 6 1523 c.1057delC c.(1057-1059)ggfs p.R353fs LEPREL4_ENST00000393928.1_Frame_Shift_Del_p.R353fs Q92791 SC65_HUMAN leprecan-like 4 353 Asp/Glu-rich (acidic). synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CCCACCTCCCGGGGCTGGAAG 0.602 18 31 --- --- --- --- STK11 6794 broad.mit.edu 37 19 1221254 1221254 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr19:1221254delC ENST00000326873.7 + 6 1950 c.777delC c.(775-777)aafs p.N259fs NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 259 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.?(2)|p.Y246fs*3(1) 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) AAGGGGACAACATCTACAAGT 0.582 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 22 8 --- --- --- --- NCAM2 4685 broad.mit.edu 37 21 22658718 22658718 + Frame_Shift_Del DEL C C - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr21:22658718delC ENST00000400546.1 + 4 716 c.467delC c.(466-468)acfs p.T157fs NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Del_p.T182fs NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 157 Ig-like C2-type 2. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GAGGAAGTCACCACTATTTCC 0.383 8 47 --- --- --- --- SBF1 6305 broad.mit.edu 37 22 50894982 50894982 + Frame_Shift_Del DEL G G - TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9319083d-b3d1-48e5-b97f-71b162f9dc7c c0161396-4ff4-460a-bb15-d3d3520b9194 g.chr22:50894982delG ENST00000380817.2 - 30 4208 c.4025delC c.(4024-4026)cgfs p.P1342fs SBF1_ENST00000348911.6_Frame_Shift_Del_p.P1317fs|SBF1_ENST00000390679.3_Frame_Shift_Del_p.P1316fs NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1316 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CAGGAAGCCCGGGTCGGGAGG 0.711 2 4 --- --- --- ---