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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut RBM47 54502 broad.mit.edu 37 4 40440107 40440107 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:40440107C>G uc003gvc.2 - 3 1514 c.804G>C c.(802-804)caG>caC p.Q268H RBM47_uc003gvd.2_Missense_Mutation_p.Q268H|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.Q230H|RBM47_uc003gvg.1_Missense_Mutation_p.Q268H NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 268 RRM 3. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CGGGGTTGAACTGGCCGAAGC 0.592000 75 5 0 0 0.021553 0 0 CUL9 23113 broad.mit.edu 37 6 43152353 43152353 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:43152353G>A uc003ouk.3 + 1 380 c.305G>A c.(304-306)cGa>cAa p.R102Q CUL9_uc003ouj.1_Missense_Mutation_p.R102Q|CUL9_uc003oul.3_Missense_Mutation_p.R102Q|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 102 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGCTTTCCTCGAGATCCAGGA 0.602000 115 10 0 0 0.008291 0 0 BTNL8 79908 broad.mit.edu 37 5 180377319 180377319 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:180377319G>C uc003mmp.3 + 7 1512 c.1278G>C c.(1276-1278)caG>caC p.Q426H BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.Q301H|BTNL8_uc010jlm.3_Missense_Mutation_p.Q310H|BTNL8_uc011dhh.2_Missense_Mutation_p.Q242H NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 426 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAAATGACCAGTCCCTTATTT 0.458000 80 12 0 0 0.016723 0 0 TTN 7273 broad.mit.edu 37 2 179600395 179600395 + Missense_Mutation SNP T G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:179600395T>G uc021vsy.1 - 46 11271 c.11046A>C c.(11044-11046)caA>caC p.Q3682H TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q343H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4609 Ig-like 22. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGGGAGTTTTTGCCCATCTT 0.418000 42 3 0 0 0.004672 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64139008 64139008 + Nonsense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:64139008G>A uc003dmf.3 - 5 1223 c.637C>T c.(637-639)Cga>Tga p.R213* NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA. 213 LIM zinc-binding 2. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TGCCAGTGTCGCCCCTCAGCT 0.498000 153 15 0 0 0.006122 0 0 NUP214 8021 broad.mit.edu 37 9 134038526 134038526 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:134038526T>C uc004cag.3 + 18 2800 c.2689T>C c.(2689-2691)Tcc>Ccc p.S897P NUP214_uc004cah.3_Missense_Mutation_p.S887P|NUP214_uc004cai.3_Missense_Mutation_p.S327P|NUP214_uc004caf.1_Missense_Mutation_p.S886P|NUP214_uc010mzf.3_Missense_Mutation_p.S195P NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 897 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTGGAGCCTGTCCTCGGCTGT 0.488000 T """DEK, SET, ABL1""" """AML, T-ALL""" 65 5 0 0 0.014758 0 0 NIPBL 25836 broad.mit.edu 37 5 36962278 36962278 + Missense_Mutation SNP A G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:36962278A>G uc003jkl.4 + 5 1011 c.512A>G c.(511-513)aAt>aGt p.N171S NIPBL_uc003jkk.4_Missense_Mutation_p.N171S|NIPBL_uc003jkm.1_Missense_Mutation_p.N50S NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 171 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CCACAGCAAAATAGCCCAGTG 0.433000 176 8 0 0 0.004482 0 0 OR4M1 441670 broad.mit.edu 37 14 20248923 20248923 + Missense_Mutation SNP T A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr14:20248923T>A uc010tku.2 + 0 442 c.442T>A c.(442-444)Tcc>Acc p.S148T NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGTGGCTCTCTCCTGGATGGG 0.502000 185 12 0 0 0.013537 0 0 GUCY1B3 2983 broad.mit.edu 37 4 156710914 156710914 + Missense_Mutation SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:156710914C>T uc003ipc.3 + 4 513 c.346C>T c.(346-348)Cgt>Tgt p.R116C GUCY1B3_uc011cio.2_Missense_Mutation_p.R138C|GUCY1B3_uc011cip.2_Missense_Mutation_p.R96C|GUCY1B3_uc003ipd.3_Missense_Mutation_p.R44C|GUCY1B3_uc010iqf.3_Missense_Mutation_p.R116C|GUCY1B3_uc010iqg.3_Missense_Mutation_p.R44C|GUCY1B3_uc011ciq.2_Missense_Mutation_p.R44C NM_000857 NP_000848 Q02153 GCYB1_HUMAN Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA. 116 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity p.R116H(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) CCCAGGAATGCGTGCACCTTC 0.463000 98 8 0 0 0.003080 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73280628 73280628 + Nonsense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:73280628G>A uc003hgk.2 - 3 602 c.565C>T c.(565-567)Cag>Tag p.Q189* NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 189 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCTCCATCTGTTTACCTCTT 0.368000 55 6 0 0 0.029380 0 0 MB21D2 151963 broad.mit.edu 37 3 192517116 192517116 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:192517116A>C uc011bsp.2 - 1 856 c.535T>G c.(535-537)Ttc>Gtc p.F179V NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA. 179 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GTAGGTGAGAAGAAGTAGTTG 0.463000 71 4 0 0 0.009096 0 0 HNRNPU 3192 broad.mit.edu 37 1 245018852 245018852 + Silent SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:245018852G>A uc001iaz.1 - 11 2444 c.2226C>T c.(2224-2226)ggC>ggT p.G742G HNRNPU_uc001iay.1_Silent_p.G466G|HNRNPU_uc001iba.1_Silent_p.G723G NM_031844 NP_114032 Q00839 HNRPU_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA. 742 Gly-rich.|Poly-Gly. CRD-mediated mRNA stabilization CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|RNA binding|protein binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TTCCTCCACCGCCACCACCTC 0.502000 91 5 0 0 0.021553 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471766 61471766 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr18:61471766A>C uc002ljl.3 + 7 1136 c.1040A>C c.(1039-1041)aAg>aCg p.K347T SERPINB7_uc002ljm.3_Missense_Mutation_p.K347T|SERPINB7_uc010xet.2_Missense_Mutation_p.K330T|SERPINB7_uc010dqg.3_Missense_Mutation_p.K347T NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 347 Reactive bond (By similarity). regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATTGTAGAAAAGCAACTCCCT 0.453000 28 7 0 0 0.029380 0 0 ZNF211 10520 broad.mit.edu 37 19 58153368 58153368 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr19:58153368G>C uc002qpr.2 + 5 2009 c.1706G>C c.(1705-1707)gGa>gCa p.G569A ZNF211_uc010yhb.1_Missense_Mutation_p.G509A|ZNF211_uc002qpp.2_Missense_Mutation_p.G518A|ZNF211_uc002qpq.2_Missense_Mutation_p.G505A|ZNF211_uc002qpt.2_Missense_Mutation_p.G517A|ZNF211_uc010yhc.1_Missense_Mutation_p.G517A|ZNF211_uc010yhe.1_Missense_Mutation_p.G496A|ZNF211_uc010yhd.1_Missense_Mutation_p.G444A NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 505 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTTCACACTGGAGAAAGGCCT 0.443000 44 6 0 0 0.021553 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529328 5529328 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5529328C>G uc021qcw.1 - 0 1461 c.1461G>C c.(1459-1461)agG>agC p.R487S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.R487S NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 487 p.L486L(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCATCTGGCCTCAGAGATC 0.572000 78 17 0 0 0.033300 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806470 6806470 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:6806470C>G uc001mer.2 + 0 223 c.202C>G c.(202-204)Ctc>Gtc p.L68V NM_001004489 NP_001004489 Q9H205 O2AG1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCAGCTCTCTCTCATGGACCT 0.552000 165 4 0 0 0.009096 0 0 OTOGL 283310 broad.mit.edu 37 12 80750654 80750654 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:80750654A>C uc001szd.3 + 47 5958 c.5952A>C c.(5950-5952)caA>caC p.Q1984H OTOGL_uc021rba.1_Missense_Mutation_p.Q3H|OTOGL_uc009zsg.2_5'UTR NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCATGATTCAAGTTCGACAGG 0.348000 39 5 0 0 0.021553 0 0 PGK2 5232 broad.mit.edu 37 6 49754266 49754266 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:49754266A>C uc003ozu.3 - 0 788 c.635T>G c.(634-636)cTt>cGt p.L212R NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 212 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.I211I(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGCTCCACCAAGTATAGCCAG 0.423000 98 6 0 0 0.021553 0 0 TRIM22 10346 broad.mit.edu 37 11 5717766 5717766 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5717766A>C uc001mbr.3 + 1 683 c.304A>C c.(304-306)Aaa>Caa p.K102Q TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Missense_Mutation_p.K102Q|TRIM22_uc010qzm.2_Missense_Mutation_p.E7D|TRIM22_uc009yes.3_Missense_Mutation_p.K102Q NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA. 102 immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2) 23 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) GCACCATGGAAAAAAACTCCA 0.478000 58 8 0 0 0.003080 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802155 68802155 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:68802155T>C uc021xag.1 - 3 638 c.145A>G c.(145-147)Aag>Gag p.K49E FAM19A4_uc021xah.1_Missense_Mutation_p.K49E NM_182522 NP_872328 Q96LR4 F19A4_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA. 49 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) GTCCCTTGCTTGATTTGGTGG 0.493000 44 4 0 0 0.014758 0 0 OR51B6 390058 broad.mit.edu 37 11 5373366 5373366 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5373366T>C uc010qzb.2 + 0 629 c.629T>C c.(628-630)cTc>cCc p.L210P HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTGGACTTTCTCATCATCTTT 0.438000 96 9 0 0 0.006214 0 0 ETF1 2107 broad.mit.edu 37 5 137846839 137846839 + Missense_Mutation SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:137846839C>T uc003ldc.4 - 7 1078 c.913G>A c.(913-915)Gtt>Att p.V305I ETF1_uc011cyv.2_Missense_Mutation_p.V291I|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.V272I NM_004730 NP_004721 P62495 ERF1_HUMAN Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA. 305 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTATCTTCAACGCCAAAACAG 0.388000 63 7 0 0 0.029380 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:126707544T>G uc003ejg.3 + 0 108 c.108T>G c.(106-108)ggT>ggG p.G36G NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 14 14 0 0 0.014323 0 0 LMAN2L 81562 broad.mit.edu 37 2 97377656 97377656 + Missense_Mutation SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:97377656C>T uc002swv.3 - 5 683 c.647G>A c.(646-648)cGc>cAc p.R216H LMAN2L_uc002swu.3_Missense_Mutation_p.R205H|LMAN2L_uc010yuu.2_Missense_Mutation_p.R69H|LMAN2L_uc010yut.2_Missense_Mutation_p.R71H|LMAN2L_uc010yuv.2_Missense_Mutation_p.R58H|LMAN2L_uc010yuw.2_Missense_Mutation_p.R60H|LMAN2L_uc010yux.2_Missense_Mutation_p.R60H NM_001142292 NP_001135764 Q9H0V9 LMA2L_HUMAN Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA. 205 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 ATGAAGATTGCGGACAATGGC 0.562000 69 4 0 0 0.014758 0 0 PDE1C 5137 broad.mit.edu 37 7 31793050 31793050 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:31793050C>G uc003tcm.2 - 17 2539 c.2078G>C c.(2077-2079)aGg>aCg p.R693T PDE1C_uc003tcn.1_Missense_Mutation_p.R693T|PDE1C_uc003tco.2_Missense_Mutation_p.R753T NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 693 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CATTTTGATCCTCTGATCCAG 0.448000 260 13 0 0 0.013537 0 0 MYO5C 55930 broad.mit.edu 37 15 52567822 52567822 + Silent SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr15:52567822G>A uc010bff.3 - 4 705 c.543C>T c.(541-543)gtC>gtT p.V181V MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Silent_p.V144V NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN Homo sapiens myosin VC (MYO5C), mRNA. 181 Myosin head-like. myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CCGATTTGCTGACGGTGGCAA 0.542000 95 7 0 0 0.029380 0 0 WDR43 23160 broad.mit.edu 37 2 29152468 29152468 + Silent SNP A T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr2:29152468A>T uc002rmo.2 + 10 1361 c.1329A>T c.(1327-1329)ggA>ggT p.G443G Y_RNA_uc021vfi.1_5'Flank NM_015131 NP_055946 Q15061 WDR43_HUMAN Homo sapiens WD repeat domain 43 (WDR43), mRNA. 443 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) AACGTCTGGGAGCAATGGATA 0.363000 27 5 0 0 0.014758 0 0 MASTL 84930 broad.mit.edu 37 10 27454438 27454438 + Missense_Mutation SNP A G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:27454438A>G uc001itm.3 + 5 1384 c.781A>G c.(781-783)Acg>Gcg p.T261A MASTL_uc001itl.3_Missense_Mutation_p.T261A|MASTL_uc009xkw.2_Missense_Mutation_p.T261A|MASTL_uc009xkx.2_Non-coding_Transcript NM_001172303 NP_001165774 Q96GX5 GWL_HUMAN Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA. 261 Protein kinase. G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAAGGACACTACGCCTTATTC 0.433000 57 5 0 0 0.021553 0 0 DCST2 127579 broad.mit.edu 37 1 155004049 155004049 + Splice_Site SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:155004049C>T uc001fgm.3 - 4 819 c.739_splice c.e4+1 p.L247_splice DCST2_uc009wpb.3_Splice_Site|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 247 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGTTTTCTCACGGCTGGCAAG 0.597000 55 19 0 0 0.008871 0 0 CCR8 1237 broad.mit.edu 37 3 39374061 39374061 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:39374061C>G uc010hhr.2 + 1 377 c.239C>G c.(238-240)tCt>tGt p.S80C CCR8_uc003cjm.2_Intron|CCR8_uc021wwe.1_Missense_Mutation_p.S80C NM_005201 NP_005192 P51685 CCR8_HUMAN Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA. 80 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) CTGGCCCTGTCTGACCTGCTT 0.493000 307 36 0 0 0.017118 0 0 PCSK5 5125 broad.mit.edu 37 9 78907175 78907175 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:78907175G>A uc004akc.2 + 24 3707 c.3169G>A c.(3169-3171)Gct>Act p.A1057T NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 757 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TACATCTTGCGCTATGGGGTA 0.363000 100 10 0 0 0.020292 0 0 OLFM3 118427 broad.mit.edu 37 1 102270070 102270070 + Silent SNP A G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:102270070A>G uc001duf.2 - 5 1232 c.1161T>C c.(1159-1161)acT>acC p.T387T OLFM3_uc001dug.2_Silent_p.T367T|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.T292T|OLFM3_uc001due.2_Non-coding_Transcript NM_058170 NP_477518 Q96PB7 NOE3_HUMAN Homo sapiens olfactomedin 3 (OLFM3), mRNA. 387 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TGGGGTAGCCAGTGCTCCAGC 0.478000 77 11 0 0 0.008291 0 0 ZNF22 7570 broad.mit.edu 37 10 45498982 45498982 + Missense_Mutation SNP A G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:45498982A>G uc001jbw.3 + 1 409 c.166A>G c.(166-168)Aaa>Gaa p.K56E C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Missense_Mutation_p.K56E NM_006963 NP_008894 P17026 ZNF22_HUMAN Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA. 56 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) CAAACCCTATAAATGTACTGA 0.433000 55 9 0 0 0.006214 0 0 ZNF22 7570 broad.mit.edu 37 10 45498963 45498963 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:45498963C>G uc001jbw.3 + 1 390 c.147C>G c.(145-147)agC>agG p.S49R C10orf25_uc001jbv.2_5'Flank|ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Missense_Mutation_p.S49R NM_006963 NP_008894 P17026 ZNF22_HUMAN Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA. 49 odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|plasma membrane DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2) 8 Prostate(175;0.0352)|all_neural(218;0.202) TCAGAAGAAGCTTGGATGACA 0.438000 67 9 0 0 0.008291 0 0 ADCY8 114 broad.mit.edu 37 8 131916183 131916183 + Silent SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:131916183G>A uc003ytd.4 - 6 2002 c.1746C>T c.(1744-1746)atC>atT p.I582I ADCY8_uc010mds.3_Silent_p.I582I NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 582 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) AGTAAGTTTCGATATTATGCT 0.478000 HNSCC(32;0.087) 122 11 0 0 0.013537 0 0 LOC100509575 100509575 broad.mit.edu 37 X 47979536 47979536 + RNA SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:47979536C>T uc022bvt.1 + 7 c.754C>T NM_001205103 B7Z813 B7Z813_HUMAN Homo sapiens putative protein SSX6-like (LOC100509575), mRNA. regulation of transcription, DNA-dependent intracellular nucleic acid binding TGACCTTTCACGAACGTGGGC 0.498000 19 5 0 0 0.021553 0 0 CCNB3 85417 broad.mit.edu 37 X 50094673 50094673 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:50094673G>C uc004dox.4 + 12 4457 c.4159G>C c.(4159-4161)Gat>Cat p.D1387H CCNB3_uc004doy.3_Missense_Mutation_p.D1387H|CCNB3_uc004doz.3_Missense_Mutation_p.D283H|CCNB3_uc010njq.3_Missense_Mutation_p.D279H|CCNB3_uc004dpa.3_Missense_Mutation_p.D226H NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 1387 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TTTGAACTGTGATTGTGAGGC 0.458000 22 4 0 0 0.014758 0 0 PIGR 5284 broad.mit.edu 37 1 207110861 207110861 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:207110861G>C uc001hez.3 - 3 808 c.624C>G c.(622-624)aaC>aaG p.N208K PIGR_uc009xbz.3_Missense_Mutation_p.N208K NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 208 Ig-like V-type 2. NQ -> DE (in Ref. 6; AA sequence and 7; AA sequence). extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCCTGAGTTGGTTGATGACAA 0.483000 51 4 0 0 0.009096 0 0 CFH 3075 broad.mit.edu 37 1 196884213 196884213 + Silent SNP T A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:196884213T>A uc001gtp.3 + 8 1622 c.1485T>A c.(1483-1485)ggT>ggA p.G495G CFH_uc021pgt.1_Silent_p.G118G|CFH_uc009wyy.3_Silent_p.G494G|CFH_uc001gto.3_Silent_p.G248G NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 847 Sushi 8. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AACTTCAGGGTTCTAATTATG 0.398000 165 9 0 0 0.004482 0 0 HBD 3045 broad.mit.edu 37 11 5255363 5255363 + Missense_Mutation SNP T G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:5255363T>G uc001maf.1 - 1 368 c.173A>C c.(172-174)aAc>aCc p.N58T NM_000519 NP_000510 P02042 HBD_HUMAN Homo sapiens hemoglobin, delta (HBD), mRNA. 58 N -> K (in Campania; dbSNP:rs35666685). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACCTTAGGGTTGCCCATAAC 0.527000 78 15 0 0 0.028581 0 0 INHBC 3626 broad.mit.edu 37 12 57828826 57828826 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:57828826G>A uc001snv.1 + 0 284 c.157G>A c.(157-159)Gac>Aac p.D53N NM_005538 NP_005529 P55103 INHBC_HUMAN Homo sapiens inhibin, beta C (INHBC), mRNA. 53 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 AAGCATCTTGGACAAGCTGCA 0.632000 56 34 0 0 0.021022 0 0 TMEM74 157753 broad.mit.edu 37 8 109796516 109796516 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:109796516G>C uc003ymy.1 - 1 917 c.812C>G c.(811-813)tCt>tGt p.S271C TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.S271C NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 271 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GAGTTTTGCAGACTCTTTGGA 0.488000 43 5 0 0 0.014758 0 0 OR2J2 26707 broad.mit.edu 37 6 29141880 29141880 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:29141880C>G uc011dlm.2 + 0 570 c.468C>G c.(466-468)atC>atG p.I156M NM_030905 NP_112167 O76002 OR2J2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GTTTTACTATCTCAGCACTTC 0.458000 219 15 0 0 0.006122 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72013863 72013863 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:72013863G>A uc001swo.2 - 25 5251 c.4892C>T c.(4891-4893)tCa>tTa p.S1631L NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 1631 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AATAGGACATGATTCCAATAA 0.353000 29 13 0 0 0.013537 0 0 GRIP1 23426 broad.mit.edu 37 12 66786136 66786136 + Missense_Mutation SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:66786136C>G uc001stk.3 - 17 2501 c.2260G>C c.(2260-2262)Gtg>Ctg p.V754L GRIP1_uc010sta.1_Missense_Mutation_p.V698L|GRIP1_uc001stj.3_Missense_Mutation_p.V536L|GRIP1_uc001stm.3_Missense_Mutation_p.V754L|GRIP1_uc001stl.1_Missense_Mutation_p.V646L NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 806 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CATGAATCCACAGCACTGTCC 0.547000 164 17 0 0 0.006122 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377313 18377313 + Missense_Mutation SNP A G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr19:18377313A>G uc010ebn.2 - 2 1253 c.1037T>C c.(1036-1038)gTc>gCc p.V346A KIAA1683_uc002nin.2_Missense_Mutation_p.V346A|KIAA1683_uc010xqe.1_Missense_Mutation_p.V300A NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 346 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGTCACGGAGACCACTGGATA 0.557000 81 7 0 0 0.003080 0 0 LUM 4060 broad.mit.edu 37 12 91502123 91502123 + Silent SNP A G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:91502123A>G uc001tbm.3 - 1 1023 c.634T>C c.(634-636)Tta>Cta p.L212L NM_002345 NP_002336 P51884 LUM_HUMAN Homo sapiens lumican (LUM), mRNA. 212 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TTGTTGTCTAAGTAGAGAGTT 0.413000 76 5 0 0 0.014758 0 0 MYH15 22989 broad.mit.edu 37 3 108158593 108158593 + Missense_Mutation SNP T G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:108158593T>G uc003dxa.1 - 24 3183 c.3126A>C c.(3124-3126)caA>caC p.Q1042H NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1042 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCTCATCAACTTGCTGTTCCA 0.443000 111 12 0 0 0.020292 0 0 SHARPIN 81858 broad.mit.edu 37 8 145153831 145153831 + Missense_Mutation SNP T A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:145153831T>A uc003zba.3 - 7 1598 c.1114A>T c.(1114-1116)Agc>Tgc p.S372C SHARPIN_uc003zbb.3_Non-coding_Transcript NM_030974 NP_112236 Q9H0F6 SHRPN_HUMAN Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA. 372 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway LUBAC complex|cytosol polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCTGGGTGCTACACATCTCA 0.632000 30 5 0 0 0.021553 0 0 VGF 7425 broad.mit.edu 37 7 100807585 100807585 + Silent SNP C G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:100807585C>G uc003uxx.4 - 1 758 c.540G>C c.(538-540)acG>acC p.T180T VGF_uc022aiz.1_Silent_p.T180T NM_003378 NP_003369 O15240 VGF_HUMAN Homo sapiens VGF nerve growth factor inducible (VGF), mRNA. 180 response to cAMP extracellular space|transport vesicle growth factor activity p.E179Q(1) cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 9 Lung NSC(181;0.168)|all_lung(186;0.215) CTGCTGCCGCCGTCTCCTGCT 0.667000 53 3 0 0 0.009096 0 0 HNRNPF 3185 broad.mit.edu 37 10 43883047 43883047 + Missense_Mutation SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:43883047C>T uc009xmh.1 - 2 773 c.286G>A c.(286-288)Gtg>Atg p.V96M HNRNPF_uc001jar.2_Missense_Mutation_p.V96M|HNRNPF_uc001jas.2_Missense_Mutation_p.V96M|HNRNPF_uc001jat.2_Missense_Mutation_p.V96M|HNRNPF_uc001jav.2_Missense_Mutation_p.V96M|HNRNPF_uc001jau.2_Missense_Mutation_p.V96M|HNRNPF_uc021ppg.1_Missense_Mutation_p.V96M|HNRNPF_uc010qfa.1_3'UTR NM_001098208 NP_004957 P52597 HNRPF_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA. 96 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1) 19 TGCTTCAACACCCAATCCATC 0.498000 58 6 0 0 0.029380 0 0 MYLK3 91807 broad.mit.edu 37 16 46764535 46764535 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr16:46764535T>C uc002eei.4 - 4 1654 c.1538A>G c.(1537-1539)tAc>tGc p.Y513C MYLK3_uc010vge.2_Missense_Mutation_p.Y172C|MYLK3_uc002eej.1_Missense_Mutation_p.Y172C NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA. 513 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GCACACCTCGTAACCCGCAGA 0.612000 72 3 0 0 0.004672 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413771 22413771 + Silent SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr15:22413771T>C uc001yuf.3 + 0 310 c.70T>C c.(70-72)Ttg>Ctg p.L24L abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. GCTCTTTTTCTTGCACTTCCT 0.493000 179 7 0 0 0.006214 0 0 PEX7 5191 broad.mit.edu 37 6 137219309 137219309 + Missense_Mutation SNP T A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:137219309T>A uc003qhd.3 + 8 935 c.833T>A c.(832-834)cTt>cAt p.L278H PEX7_uc010kgx.3_Non-coding_Transcript NM_000288 NP_000279 O00628 PEX7_HUMAN Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA. 278 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) CCTGACTCTCTTCTTGAAACA 0.338000 52 4 0 0 0.014758 0 0 ARRDC1 92714 broad.mit.edu 37 9 140507428 140507428 + Missense_Mutation SNP T A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:140507428T>A uc004cnp.2 + 1 273 c.199T>A c.(199-201)Ttc>Atc p.F67I ARRDC1_uc004cns.3_Missense_Mutation_p.F67I|ARRDC1_uc004cnx.2_5'UTR Q8N5I2 ARRD1_HUMAN Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA. 67 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) GGAGGGTTACTTCAACAGTTC 0.602000 23 3 0 0 0.009096 0 0 WSB1 26118 broad.mit.edu 37 17 25639344 25639344 + Missense_Mutation SNP G T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:25639344G>T uc002gzd.1 + 8 1531 c.1215G>T c.(1213-1215)caG>caT p.Q405H WSB1_uc002gze.1_Missense_Mutation_p.Q259H|WSB1_uc002gzf.1_Non-coding_Transcript NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN Homo sapiens WD repeat and SOCS box containing 1 (WSB1), transcript variant 1, mRNA. 405 SOCS box. intracellular signal transduction intracellular protein binding lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AAGAAGTTCAGGAGCTGCCGA 0.478000 339 24 6.07407e-21 6.64352e-21 0.034045 1 0 CMTM2 146225 broad.mit.edu 37 16 66613633 66613633 + Silent SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr16:66613633G>A uc002ept.3 + 0 283 c.123G>A c.(121-123)gcG>gcA p.A41A CMTM2_uc010cdu.3_Silent_p.A41A NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA. 41 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) CTCAAAAGGCGGTGCAGGACC 0.622000 47 6 0 0 0.029380 0 0 DQ596604 0 broad.mit.edu 37 15 102312676 102312676 + Splice_Site SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr15:102312676T>C uc010utm.1 + 1 c.1_splice c.e1-1 DQ578010_uc021szd.1_5'Flank|DQ599787_uc002ccq.3_5'Flank|DQ588124_uc010utn.2_5'Flank|DQ572823_uc021sze.1_5'Flank|DQ580168_uc002ccs.1_5'Flank|DQ601694_uc010uto.1_5'Flank|DQ582073_uc002cct.1_5'Flank|DQ571638_uc002ccu.3_5'Flank|DQ570882_uc002ccv.1_5'Flank|DQ593032_uc010utp.2_5'Flank|DQ589204_uc021szf.1_5'Flank Homo sapiens piRNA piR-42886, complete sequence. AGGAGGTCCATAAGGCCACTC 0.562000 57 5 0 0 0.021553 0 0 FLJ36000 284124 broad.mit.edu 37 17 21904125 21904125 + RNA SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:21904125G>A uc002gza.2 + 0 c.64G>A Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA. ggagtcgcaaggggccgagca 0.697000 34 3 0 0 0.004672 0 0 SSX2IP 117178 broad.mit.edu 37 1 85136353 85136353 + Silent SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:85136353T>C uc001dki.3 - 3 515 c.189A>G c.(187-189)gaA>gaG p.E63E SSX2IP_uc001dkf.3_Silent_p.E36E|SSX2IP_uc001dkh.3_Silent_p.E63E|SSX2IP_uc010orz.2_Silent_p.E36E|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Silent_p.E36E|SSX2IP_uc001dkj.3_Silent_p.E63E|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Silent_p.E59E NM_014021 NP_001159767 Q9Y2D8 ADIP_HUMAN Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA. 63 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AGATACTCTGTTCAATATTAT 0.299000 71 8 0 0 0.003080 0 0 SLC17A6 57084 broad.mit.edu 37 11 22381014 22381014 + Missense_Mutation SNP G T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:22381014G>T uc001mqk.3 + 3 927 c.514G>T c.(514-516)Gca>Tca p.A172S NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 172 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 AATTCCATCAGCAGCCAGAGT 0.398000 59 7 0.00307968 0.00320165 0.003080 1 0 RAB3IP 117177 broad.mit.edu 37 12 70178515 70178515 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:70178515G>C uc001svp.3 + 3 1021 c.574G>C c.(574-576)Gat>Cat p.D192H RAB3IP_uc021rao.1_Missense_Mutation_p.D176H|RAB3IP_uc001svm.3_Missense_Mutation_p.D176H|RAB3IP_uc001svn.3_Missense_Mutation_p.D176H|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.D192H|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_5'UTR NM_175623 NP_001019818 Q96QF0 RAB3I_HUMAN Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA. 192 Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) GAAGTTAAAAGATGAAGAATG 0.323000 133 4 0 0 0.009096 0 0 NOL4 8715 broad.mit.edu 37 18 31537451 31537451 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr18:31537451A>C uc010dmi.3 - 7 1565 c.1267T>G c.(1267-1269)Ttg>Gtg p.L423V NOL4_uc010xbs.2_Missense_Mutation_p.L138V|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.L349V|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 423 nucleolus RNA binding p.L423L(2) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 ATTCGGTCCAAGTTTTCATCT 0.493000 26 7 0 0 0.029380 0 0 TFEB 7942 broad.mit.edu 37 6 41652468 41652468 + Missense_Mutation SNP C T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:41652468C>T uc021yzl.1 - 7 1502 c.1501G>A c.(1501-1503)Gac>Aac p.D501N TFEB_uc003oqs.1_Missense_Mutation_p.D434N|TFEB_uc003oqt.1_Missense_Mutation_p.D434N|TFEB_uc003oqu.1_Missense_Mutation_p.D434N|TFEB_uc003oqr.1_Missense_Mutation_p.D349N NM_007162 NP_009093 P19484 TFEB_HUMAN Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA. 434 embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 11 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) AGCATGAGGTCCAGATCCTTC 0.677000 T ALPHA renal (childhood epithelioid) 71 5 0 0 0.014758 0 0 USP44 84101 broad.mit.edu 37 12 95926931 95926931 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr12:95926931G>C uc001teg.3 - 1 1246 c.1102C>G c.(1102-1104)Ctt>Gtt p.L368V USP44_uc001teh.3_Missense_Mutation_p.L368V|USP44_uc009zte.3_Missense_Mutation_p.L365V NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 368 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 GGCTGAATAAGTTCCATCTTT 0.418000 79 5 0 0 0.014758 0 0 NANOS3 342977 broad.mit.edu 37 19 13988290 13988290 + Silent SNP G T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr19:13988290G>T uc002mxj.4 + 0 228 c.228G>T c.(226-228)ctG>ctT p.L76L NM_001098622 NP_001092092 P60323 NANO3_HUMAN Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA. 57 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCGAACGCCTGTGCTCTTTCT 0.657000 31 7 0.00307968 0.00320165 0.003080 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64589985 64589985 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:64589985T>C uc003dmg.3 - 23 3529 c.3497A>G c.(3496-3498)cAt>cGt p.H1166R ADAMTS9_uc011bfo.2_Missense_Mutation_p.H1138R|ADAMTS9_uc003dmh.1_Missense_Mutation_p.H995R|ADAMTS9_uc011bfp.1_Missense_Mutation_p.H77R NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 1166 TSP type-1 6. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGGGGGAGGATGACATGATGG 0.473000 628 29 0 0 0.017118 0 0 TCRBV14S1 0 broad.mit.edu 37 7 142423696 142423696 + Missense_Mutation SNP T G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:142423696T>G uc010lol.1 + 1 385 c.352T>G c.(352-354)Ttg>Gtg p.L118V TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; ATCCACAGTGTTGCACAGCCA 0.527000 28 3 0 0 0.004672 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411551 32411551 + Missense_Mutation SNP C T T rs58547911 TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr6:32411551C>T uc003obh.3 + 3 738 c.629C>T c.(628-630)cCt>cTt p.P210L HLA-DRA_uc003obi.3_Missense_Mutation_p.P185L NM_019111 NP_061984 P01903 DRA_HUMAN Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA. 210 Connecting peptide. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane MHC class II receptor activity p.P210H(2) NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 GCTCCAAGCCCTCTCCCAGAG 0.488000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 163 12 0 0 0.020292 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632186 156632186 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr4:156632186T>C uc003iov.3 + 6 1405 c.869T>C c.(868-870)tTc>tCc p.F290S GUCY1A3_uc003iou.2_Missense_Mutation_p.F290S|GUCY1A3_uc010iqc.2_Missense_Mutation_p.F290S|GUCY1A3_uc010iqd.3_Missense_Mutation_p.F289S|GUCY1A3_uc003iow.3_Missense_Mutation_p.F290S|GUCY1A3_uc003iox.3_Missense_Mutation_p.F290S|GUCY1A3_uc010iqe.3_Missense_Mutation_p.F55S|GUCY1A3_uc003ioy.3_Missense_Mutation_p.F290S|GUCY1A3_uc003ioz.3_Missense_Mutation_p.F55S|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.F290S NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 290 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CCATTCCATTTCATGTTTGAC 0.443000 54 3 0 0 0.004672 0 0 PCDH15 65217 broad.mit.edu 37 10 55587280 55587280 + Nonsense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr10:55587280G>A uc010qhy.1 - 32 4650 c.4255C>T c.(4255-4257)Cga>Tga p.R1419* PCDH15_uc010qhq.2_Nonsense_Mutation_p.R1419*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R1414*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R1414*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R1426*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R1421*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R1414*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R1414*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R1389*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R1411*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R1374*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R1343*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R1414*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R1392*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R1414*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R1389* NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1414 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GCCTGAATTCGTGCAGTCTTT 0.537000 HNSCC(58;0.16) 58 6 0 0 0.003080 0 0 TMEM88 92162 broad.mit.edu 37 17 7758463 7758463 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr17:7758463G>C uc002giy.3 + 0 80 c.71G>C c.(70-72)tGt>tCt p.C24S CYB5D1_uc002gjb.4_5'Flank NM_203411 NP_981956 Q6PEY1 TMM88_HUMAN Homo sapiens transmembrane protein 88 (TMEM88), mRNA. 24 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) CCCCTGGACTGTTGGGCCTGC 0.672000 21 5 0 0 0.021553 0 0 LRRN4 164312 broad.mit.edu 37 20 6022584 6022584 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr20:6022584G>C uc002wmo.2 - 4 1531 c.1307C>G c.(1306-1308)tCt>tGt p.S436C NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA. 436 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 ACCTGCTACAGAGTTGGTCGT 0.637000 72 6 0 0 0.029380 0 0 MTRR 4552 broad.mit.edu 37 5 7873569 7873569 + Missense_Mutation SNP G C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr5:7873569G>C uc003jed.3 + 2 324 c.294G>C c.(292-294)aaG>aaC p.K98N MTRR_uc010itn.1_Intron|MTRR_uc003jee.4_Missense_Mutation_p.K71N|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Intron|MTRR_uc010ito.3_Non-coding_Transcript NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA. 98 Flavodoxin-like. methionine biosynthetic process cytosol FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CAGCCCGCAAGTTTGTTAAGG 0.463000 89 4 0 0 0.009096 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39140536 39140536 + Missense_Mutation SNP A T T TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr9:39140536A>T uc004abi.3 - 11 2095 c.1856T>A c.(1855-1857)cTt>cAt p.L619H CNTNAP3_uc004abj.3_Missense_Mutation_p.L619H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.L619H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.L526H NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 619 Fibrinogen C-terminal. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCAGTACACAAGAAATGGTCC 0.438000 61 6 0 0 0.029380 0 0 ATG4A 115201 broad.mit.edu 37 X 107381181 107381181 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:107381181G>A uc004enr.3 + 7 853 c.695G>A c.(694-696)gGc>gAc p.G232D ATG4A_uc004ens.3_Missense_Mutation_p.G148D|ATG4A_uc011msl.2_Intron|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Intron NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA. 232 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity p.G232D(3) endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1) 11 CTTCGCCTGGGCATAAACCAA 0.522000 130 4 0 0 0.014758 0 0 MUC5B 727897 broad.mit.edu 37 11 1264737 1264737 + Silent SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:1264737G>A uc001lta.3 + 30 6686 c.6627G>A c.(6625-6627)acG>acA p.T2209T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 2209 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCCCACACGGTGCGCACAG 0.662000 46 18 0 0 0.016522 0 0 SERPINI1 5274 broad.mit.edu 37 3 167507139 167507139 + Missense_Mutation SNP T G G TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:167507139T>G uc003ffa.4 + 1 421 c.223T>G c.(223-225)Tca>Gca p.S75A SERPINI1_uc003ffb.4_Missense_Mutation_p.S75A NM_001122752 NP_005016 Q99574 NEUS_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA. 75 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 AATCCGCCACTCAATGGGATA 0.383000 29 8 0 0 0.006214 0 0 PHF21A 51317 broad.mit.edu 37 11 46001496 46001496 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:46001496G>A uc001ncc.4 - 5 799 c.175C>T c.(175-177)Cgg>Tgg p.R59W PHF21A_uc001ncb.4_Missense_Mutation_p.R59W|PHF21A_uc009ykx.3_Missense_Mutation_p.R59W|PHF21A_uc001nce.2_Missense_Mutation_p.R59W NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA. 59 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 AGGTTCTTCCGTAGCTGTTCA 0.383000 54 4 0 0 0.009096 0 0 NUP205 23165 broad.mit.edu 37 7 135263592 135263592 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:135263592G>A uc003vsw.3 + 6 1002 c.971G>A c.(970-972)gGg>gAg p.G324E NUP205_uc011kqa.1_Non-coding_Transcript NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 324 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AAACTGCCTGGGCTCCAAGCC 0.443000 73 5 0 0 0.014758 0 0 AKAP6 9472 broad.mit.edu 37 14 33292622 33292622 + Missense_Mutation SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr14:33292622A>C uc001wrq.3 + 12 5773 c.5603A>C c.(5602-5604)cAt>cCt p.H1868P NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 1868 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AATTCATCTCATACCCATGAG 0.358000 30 4 0 0 0.009096 0 0 ELTD1 64123 broad.mit.edu 37 1 79383605 79383605 + Missense_Mutation SNP T C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr1:79383605T>C uc001diq.4 - 10 1748 c.1592A>G c.(1591-1593)aAg>aGg p.K531R NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 531 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATAAAAATTCTTGTGCAAAAA 0.393000 102 10 0 0 0.006214 0 0 SPDYE5 442590 broad.mit.edu 37 7 75130883 75130883 + Missense_Mutation SNP G A A TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr7:75130883G>A uc011kfy.2 + 5 894 c.758G>A c.(757-759)cGt>cAt p.R253H DQ601342_uc022agh.1_5'Flank NM_001099435 NP_001092905 A6NIY4 SPDE5_HUMAN Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA. 253 Arg-rich. CAGTTAGGCCGTTCCATGAAC 0.592000 305 5 0 0 0.014758 0 0 OR5K4 403278 broad.mit.edu 37 3 98072851 98072851 + Missense_Mutation SNP G A A rs139874815 byFrequency TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr3:98072851G>A uc011bgv.2 + 0 154 c.154G>A c.(154-156)Gag>Aag p.E52K NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AATTTATGTAGAGCGTCGTCT 0.463000 227 17 0 0 0.028581 0 0 HNF4G 3174 broad.mit.edu 37 8 76465282 76465282 + Silent SNP A C C TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr8:76465282A>C uc003yaq.3 + 5 624 c.354A>C c.(352-354)tcA>tcC p.S118S HNF4G_uc003yar.3_Silent_p.S155S NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 118 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ACTAGATCTCAGTCTCAAGCC 0.353000 19 3 0 0 0.004672 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605880 1605882 + In_Frame_Del DEL GCC - - TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chr11:1605880_1605882delGCC uc001ltu.1 - 0 632_634 c.598_600delGGC c.(598-600)ggcdel p.G200del MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA. 200 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCCCCACAGCCGGAGCCACAA 0.665 --- 111 --- --- 11 --- GAGE2B 645037 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - TAT TAT TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:49208295_49208296insTAT uc004dnv.4 + 1 140_141 c.24_25insTAT c.(22-27)insTAT p.9_10insY GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY NM_001127212 NP_001091881 Homo sapiens G antigen 2A (GAGE2A), mRNA. GAAGATCGACCTATCGGCCTAG 0.465 --- 10 --- --- 8 --- PLP1 5354 broad.mit.edu 37 X 103041638 103041639 + Frame_Shift_Ins INS - TA TA TCGA-D3-A3BZ-06A-12D-A196-08 TCGA-D3-A3BZ-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ca03fc4-5f10-420a-8260-4af6e9650b86 e5d30ad9-ea36-4409-9fda-bb52ab23603a g.chrX:103041638_103041639insTA uc010nov.3 + 3 716_717 c.436_437insTA c.(436-438)ctafs p.L146fs RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Frame_Shift_Ins_p.L146fs|PLP1_uc004elj.3_Intron|PLP1_uc011msf.2_Frame_Shift_Ins_p.L91fs|PLP1_uc010now.1_Frame_Shift_Ins_p.L150fs|PLP1_uc010nox.3_Frame_Shift_Ins_p.L100fs NM_001128834 NP_001122306 P60201 MYPR_HUMAN Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA. 146 Missing (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 GGGAAAATGGCTAGGACATCCC 0.564 --- 77 --- --- 26 ---