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 AK094577 0 broad.mit.edu 37 8 145722929 145722929 + Missense_Mutation SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr8:145722929G>A uc003zde.1 - 1 697 c.185C>T c.(184-186)aCa>aTa p.T62I PPP1R16A_uc003zdd.3_Intron|PPP1R16A_uc003zdf.3_Intron Homo sapiens cDNA FLJ37258 fis, clone BRAMY2010208. GGCTGGGCCTGTCCACAGCTC 0.677000 3 11 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33521307 33521307 + Missense_Mutation SNP T T C TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr17:33521307T>C uc002hjd.2 - 0 106 c.20A>G c.(19-21)tAt>tGt p.Y7C NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 7 integral to membrane CTGGTTGAAATAGGGGTGACT 0.632000 3 45 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96361328 96361328 + Missense_Mutation SNP A A G TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr10:96361328A>G uc009xuo.3 + 22 2709 c.2604A>G c.(2602-2604)atA>atG p.I868M HELLS_uc001kjs.3_Missense_Mutation_p.I806M|HELLS_uc001kjt.3_Missense_Mutation_p.I822M|HELLS_uc009xul.3_Missense_Mutation_p.I724M|HELLS_uc009xum.3_Missense_Mutation_p.I692M|HELLS_uc009xun.3_Missense_Mutation_p.I698M|HELLS_uc001kju.3_Missense_Mutation_p.I461M|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.I684M|HELLS_uc009xur.3_Non-coding_Transcript NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN Homo sapiens helicase, lymphoid-specific (HELLS), mRNA. 822 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AGATGGGGATATTCAAGATAT 0.303000 9 50 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144072 65144072 + Missense_Mutation SNP T T C TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr11:65144072T>C uc001odr.1 - 6 877 c.673A>G c.(673-675)Atc>Gtc p.I225V SLC25A45_uc009yqi.1_Missense_Mutation_p.I163V|SLC25A45_uc001odq.1_Missense_Mutation_p.I201V|SLC25A45_uc001ods.1_Missense_Mutation_p.I183V|SLC25A45_uc001odt.1_Missense_Mutation_p.I183V NM_182556 NP_001070709 Q8N413 S2545_HUMAN Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA. 225 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 CGGGACTTGATCATGTCTAAG 0.617000 29 33 0 0 1 0 0 RIMS3 9783 broad.mit.edu 37 1 41098767 41098767 + Missense_Mutation SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:41098767C>T uc001cfu.1 - 4 911 c.446G>A c.(445-447)cGa>cAa p.R149Q RIMS3_uc001cfv.1_Missense_Mutation_p.R149Q NM_014747 NP_055562 Q9UJD0 RIMS3_HUMAN Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA. 149 neurotransmitter transport cell junction|synapse NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.47e-17) CAGTGTCTGTCGCCCCACAAT 0.592000 76 69 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79813410 79813410 + Silent SNP C C A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr17:79813410C>A uc002kbn.1 - 2 602 c.405G>T c.(403-405)ccG>ccT p.P135P P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 135 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TGGTGGCAGCCGGGCCCGTGC 0.592000 3 50 0 0 1 0 0 ANKRD5 63926 broad.mit.edu 37 20 10023795 10023795 + Silent SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr20:10023795G>A uc002wno.3 + 3 765 c.372G>A c.(370-372)ccG>ccA p.P124P LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.P124P|ANKRD5_uc010gbz.3_5'UTR NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 124 calcium ion binding breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 GCATTTTACCGACTAAGCGGC 0.378000 23 44 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101188796 101188796 + Missense_Mutation SNP G G T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:101188796G>T uc001dti.3 + 2 782 c.561G>T c.(559-561)gaG>gaT p.E187D VCAM1_uc010ouj.2_Missense_Mutation_p.E125D|VCAM1_uc001dtj.3_Missense_Mutation_p.E187D NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 187 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) CTGTCATTGAGGATATTGGAA 0.418000 19 13 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113854783 113854783 + Missense_Mutation SNP C C A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr13:113854783C>A uc021rmt.1 - 1 165 c.84G>T c.(82-84)ttG>ttT p.L28F PCID2_uc021rmq.1_Missense_Mutation_p.L28F|PCID2_uc021rmr.1_Missense_Mutation_p.L28F|PCID2_uc021rms.1_Missense_Mutation_p.L28F|PCID2_uc001vtg.2_Non-coding_Transcript NM_018386 NP_060856 Q5JVF3 PCID2_HUMAN Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA. 28 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) TAAAAGACACCAACTCTGCAC 0.423000 5 63 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 354424 354424 + Silent SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr16:354424C>T uc002cgp.2 - 4 1523 c.1134G>A c.(1132-1134)ccG>ccA p.P378P LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.P378P NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 378 Interaction with GSK3B (By similarity). Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.P378L(1)|p.?(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GGACCTCCTTCGGCACCCGGT 0.627000 3 37 0 0 1 0 0 CEPT1 10390 broad.mit.edu 37 1 111690383 111690383 + Missense_Mutation SNP C C T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:111690383C>T uc001eah.1 + 1 255 c.47C>T c.(46-48)cCg>cTg p.P16L CEPT1_uc001eag.3_Missense_Mutation_p.P16L|CEPT1_uc001eai.1_Missense_Mutation_p.P16L|CEPT1_uc001eaj.1_Missense_Mutation_p.P16L NM_001007794 NP_006081 Q9Y6K0 CEPT1_HUMAN Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA. 16 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) GATTCTCACCCGGAGTCCCCA 0.393000 5 45 0 0 1 0 0 FAM83F 113828 broad.mit.edu 37 22 40417409 40417409 + Missense_Mutation SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr22:40417409G>A uc003ayk.1 + 3 989 c.895G>A c.(895-897)Gac>Aac p.D299N NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA. 299 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 CGAGGAGGTGGACTTGTACCG 0.592000 13 116 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49920492 49920492 + Missense_Mutation SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr19:49920492G>A uc002pnm.2 + 18 1721 c.1516G>A c.(1516-1518)Ggc>Agc p.G506S CCDC155_uc010emx.2_Missense_Mutation_p.G477S NM_144688 NP_653289 Q8N6L0 CC155_HUMAN Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA. 506 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GAGGGCCTGGGGCCAGCTCTG 0.652000 7 15 0 0 1 0 0 PIH1D2 120379 broad.mit.edu 37 11 111942472 111942472 + Missense_Mutation SNP T T C TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr11:111942472T>C uc001pmp.4 - 2 411 c.188A>G c.(187-189)gAa>gGa p.E63G PIH1D2_uc009yyl.3_Missense_Mutation_p.E63G|PIH1D2_uc010rws.1_Missense_Mutation_p.E63G|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank NM_138789 NP_620144 Q8WWB5 PIHD2_HUMAN Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA. 63 endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508) AAGTATTTTTTCTTTTGGTTT 0.428000 10 23 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917353 186917353 + Missense_Mutation SNP G G T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr3:186917353G>T uc003frg.3 + 1 317 c.287G>T c.(286-288)tGg>tTg p.W96L NM_153708 NP_714919 P59025 RTP1_HUMAN Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA. 96 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CACTGCTCCTGGTGCTGGCAC 0.652000 53 50 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1267146 1267146 + Silent SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr11:1267146G>A uc001lta.3 + 30 9095 c.9036G>A c.(9034-9036)ccG>ccA p.P3012P NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3012 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). 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) CGGCCATCCCGTCCTCCACCC 0.642000 31 82 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152390825 152390825 + Silent SNP G G A TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr2:152390825G>A uc002txu.3 - 142 21524 c.21321C>T c.(21319-21321)taC>taT p.Y7107Y NEB_uc002txr.3_Silent_p.Y1872Y|NEB_uc021vrb.1_Silent_p.Y5406Y|NEB_uc021vrc.1_Intron|NEB_uc010fnx.3_Silent_p.Y5394Y|NEB_uc021vrd.1_Silent_p.Y5406Y|NEB_uc002txt.4_5'Flank NM_001164507 NP_001157979 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 1, mRNA. 5406 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AATCAGCTCTGTATTTTTTCT 0.443000 5 72 0 0 1 0 0 TSNAX 7257 broad.mit.edu 37 1 231696959 231696959 + Silent SNP A A G TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr1:231696959A>G uc001huw.3 + 4 611 c.453A>G c.(451-453)caA>caG p.Q151Q DISC1_uc010pwe.2_5'UTR|DISC1_uc010pwf.2_Intron|DISC1_uc010pwj.1_5'UTR|DISC1_uc010pwk.1_5'UTR|DISC1_uc010pwg.1_Intron|DISC1_uc010pwh.1_5'UTR|DISC1_uc010pwi.1_5'UTR|DISC1_uc010pwl.2_Intron NM_005999 NP_005990 Q99598 TSNAX_HUMAN Homo sapiens translin-associated factor X (TSNAX), mRNA. 151 Interaction with C1D. cell differentiation|multicellular organismal development|spermatogenesis nucleus|perinuclear region of cytoplasm protein transporter activity|sequence-specific DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116) TTAATAAACAATTGATATTTA 0.289000 13 30 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72775591 72775592 + Frame_Shift_Ins INS - - T TCGA-EM-A2CO-01A-11D-A19J-08 TCGA-EM-A2CO-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d31942ef-c251-4444-b743-3463827dc120 d4b5812a-ded5-47da-9681-0da4dac669c7 g.chr18:72775591_72775592insT uc002llw.2 + 7 5967_5968 c.5914_5915insT c.(5914-5916)attfs p.I1972fs NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1972 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CAAGCAGGAGATTTTAAACCTC 0.614 6 7 --- --- --- ---