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 KRTAP4-8 728224 broad.mit.edu 37 17 39254013 39254013 + Missense_Mutation SNP G G C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:39254013G>C ENST00000333822.4 - 1 380 c.324C>G c.(322-324)agC>agG p.S108R NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 108 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.S108R(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 gcttgcagcagctggacacac 0.662000 4 72 0 0 0.278610 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 85 2.56e-06 2.75948e-06 0.150653 1 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 7 40 0 0 0.278610 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521691 32521691 + RNA SNP A A G rs113051760 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:32521691A>G ENST00000411500.1 - 0 792 NR_001298.1 GGCCCAGCACAAAGCCCCCGA 0.488000 17 22 0 0 0.539581 0 0 COL24A1 255631 broad.mit.edu 37 1 86590963 86590963 + Silent SNP G G T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:86590963G>T ENST00000370571.2 - 3 1422 c.1056C>A c.(1054-1056)acC>acA p.T352T COL24A1_ENST00000436319.1_Silent_p.T352T NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 352 cell adhesion collagen extracellular matrix structural constituent p.T352T(1) NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCGATGAGTGGTCACTGACA 0.413000 5 111 0.184627 0.189186 0.184627 1 0 SLC26A6 65010 broad.mit.edu 37 3 48669168 48669168 + Missense_Mutation SNP C C A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr3:48669168C>A ENST00000358747.6 - 6 1004 c.754G>T c.(754-756)Gct>Tct p.A252S SLC26A6_ENST00000383733.3_Missense_Mutation_p.A273S|SLC26A6_ENST00000455886.2_Missense_Mutation_p.A237S|SLC26A6_ENST00000395550.2_Missense_Mutation_p.A273S|SLC26A6_ENST00000337000.8_Missense_Mutation_p.A166S|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000420764.2_Missense_Mutation_p.A273S NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) ACCACCCCAGCCACAGCTGCA 0.627000 5 214 0.0293803 0.030868 0.248553 1 0 SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:47696432A>G ENST00000393331.3 - 7 861 c.391T>C c.(391-393)Tgg>Cgg p.W131R SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458000 Prostate(2;0.17) 25 212 0 0 0.729181 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 27 0 0 0.278610 0 0 EBP 10682 broad.mit.edu 37 X 48386620 48386620 + Splice_Site SNP A A T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chrX:48386620A>T ENST00000495186.1 + 5 1292 c.e5-1 EBP_ENST00000276096.6_Splice_Site NM_006579.2 NP_006570.1 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1) 11 TGCCACCCACAGGCCAGATCT 0.537000 3 14 0 0 0.115264 0 0 IL7 3574 broad.mit.edu 37 8 79645969 79645969 + Missense_Mutation SNP C C G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:79645969C>G ENST00000263851.4 - 6 1113 c.513G>C c.(511-513)ttG>ttC p.L171F IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000541183.1_Missense_Mutation_p.L58F|IL7_ENST00000519833.1_Intron NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 171 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 TAGTGCCCATCAAAATTTTAT 0.323000 15 103 0 0 0.500413 0 0 ZNF827 152485 broad.mit.edu 37 4 146824230 146824230 + Nonsense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:146824230G>A ENST00000508784.1 - 2 408 c.181C>T c.(181-183)Cag>Tag p.Q61* ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q61*(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) GACTGCTCCTGGATCCGGTCC 0.567000 14 79 0 0 0.479597 0 0 ZNF519 162655 broad.mit.edu 37 18 14104994 14104994 + Silent SNP A A C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr18:14104994A>C ENST00000590202.1 - 3 1697 c.1545T>G c.(1543-1545)ccT>ccG p.P515P ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA NM_145287.3 NP_660330.2 Q8TB69 ZN519_HUMAN zinc finger protein 519 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TACATTTGAAAGGTTTCTCTC 0.373000 11 142 0 0 0.387290 0 0 CSAD 51380 broad.mit.edu 37 12 53567192 53567192 + Silent SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:53567192G>A ENST00000267085.4 - 4 377 c.144C>T c.(142-144)ctC>ctT p.L48L CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000444623.1_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Silent_p.L21L NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 21 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) ACACGGCCCGGAGCAAGGCTT 0.562000 11 104 0 0 0.411799 0 0 BLMH 642 broad.mit.edu 37 17 28616489 28616489 + Missense_Mutation SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:28616489T>C ENST00000261714.6 - 3 397 c.223A>G c.(223-225)Atc>Gtc p.I75V BLMH_ENST00000394819.3_Intron NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 75 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding p.I75V(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 CAAGAAAAGATCCAGCATCGC 0.383000 7 48 0 0 0.278610 0 0 FLG 2312 broad.mit.edu 37 1 152281970 152281970 + Silent SNP G G T rs149105551 byFrequency TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:152281970G>T ENST00000368799.1 - 3 5427 c.5392C>A c.(5392-5394)Cga>Aga p.R1798R FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1798 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTGTCTCGTGCCTGCTCG 0.597000 Ichthyosis 9 561 0.335167 0.339255 0.335167 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128868319 128868319 + Missense_Mutation SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:128868319T>C ENST00000310343.9 - 11 1047 c.1048A>G c.(1048-1050)Atg>Gtg p.M350V ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 350 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding p.M1V(2)|p.M350V(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CGAGACTTCATGAATGTTCGT 0.403000 19 128 0 0 0.624587 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 89 0 0 0.150653 0 0 OR4S2 219431 broad.mit.edu 37 11 55418689 55418689 + Missense_Mutation SNP T T A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:55418689T>A ENST00000312422.2 + 1 310 c.310T>A c.(310-312)Ttc>Atc p.F104I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TGGAGTACATTTCTTTGGTTG 0.428000 19 288 0 0 0.608945 0 0 ETV3L 440695 broad.mit.edu 37 1 157067666 157067666 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:157067666C>T ENST00000454449.2 - 4 885 c.601G>A c.(601-603)Gtc>Atc p.V201I NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V201I(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) TCACGGTAGACGCTGCTGCTG 0.632000 25 202 0 0 0.717897 0 0 MYH15 22989 broad.mit.edu 37 3 108156457 108156457 + Silent SNP C C G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr3:108156457C>G ENST00000273353.3 - 26 3281 c.3225G>C c.(3223-3225)cgG>cgC p.R1075R NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1075 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CCATACTTTCCCGATTCAGCT 0.488000 7 324 0 0 0.248553 0 0 KMT2D 8085 broad.mit.edu 37 12 49430959 49430959 + Nonsense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:49430959G>A ENST00000301067.7 - 34 10179 c.10180C>T c.(10180-10182)Cag>Tag p.Q3394* KMT2D_ENST00000549743.1_5'UTR NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q3394*(1)|p.Q3124*(1) GCCAATTGCTGCGGCTTCATG 0.537000 8 39 0 0 0.278610 0 0 GRIN2A 0 broad.mit.edu 37 16 9858034 9858034 + Nonsense_Mutation SNP C C A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr16:9858034C>A ENST00000396573.2 - 14 3676 c.3367G>T c.(3367-3369)Gag>Tag p.E1123* GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966* NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1123 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1123*(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGCTCCTTCTCACCATCTATA 0.522000 18 286 2.37509e-13 2.59385e-13 0.592651 1 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 8 29 0 0 0.435327 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 60 0 0 0.248553 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:186276075T>C ENST00000445192.2 + 7 1269 c.1224T>C c.(1222-1224)acT>acC p.T408T PRG4_ENST00000367485.4_Silent_p.T315T|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 16 220 0 0 0.693898 0 0 BAI1 575 broad.mit.edu 37 8 143558817 143558817 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:143558817C>T ENST00000517894.1 + 6 2188 c.1294C>T c.(1294-1296)Cgc>Tgc p.R432C BAI1_ENST00000323289.5_Missense_Mutation_p.R432C O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 432 TSP type-1 3. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CTTTCGGGATCGCACGCGCAC 0.652000 6 119 0 0 0.248553 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 84 0 0 0.150653 0 0 NTM 50863 broad.mit.edu 37 11 132177693 132177693 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:132177693C>T ENST00000374786.1 + 4 1116 c.637C>T c.(637-639)Cgg>Tgg p.R213W NTM_ENST00000374784.1_Missense_Mutation_p.R213W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.R213W|NTM_ENST00000427481.2_Missense_Mutation_p.R204W|NTM_ENST00000539799.1_Missense_Mutation_p.R213W|NTM_ENST00000374791.3_Missense_Mutation_p.R213W NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 213 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.R213W(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 GCCCGTGGTACGGAGAGTAAA 0.582000 12 66 0 0 0.435327 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72026778 72026778 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:72026778C>T ENST00000378743.3 - 14 3063 c.2705G>A c.(2704-2706)cGt>cAt p.R902H NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 902 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 AATTGTAACACGCTGTTGAAC 0.358000 5 54 0 0 0.184627 0 0 CLN5 1203 broad.mit.edu 37 13 77570129 77570129 + Missense_Mutation SNP T T G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr13:77570129T>G ENST00000377453.3 + 3 1871 c.579T>G c.(577-579)tgT>tgG p.C193W CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 144 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) TTGGCAACTGTACATTTCCCC 0.418000 8 195 0 0 0.335167 0 0 SLC1A2 6506 broad.mit.edu 37 11 35313864 35313864 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:35313864G>A ENST00000278379.3 - 7 1343 c.1061C>T c.(1060-1062)gCt>gTt p.A354V SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 354 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AGTGATCCAAGCTTGGAAAAT 0.463000 19 419 0 0 0.608945 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030832 94030832 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr5:94030832G>A ENST00000265140.5 + 21 3411 c.2992G>A c.(2992-2994)Gaa>Aaa p.E998K ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 998 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AAGTCATAAAGAAACCACCAG 0.343000 12 60 0 0 0.500413 0 0 DNM1P47 0 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 3 28 0 0 0.115264 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254005 39254005 + Missense_Mutation SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:39254005T>C ENST00000333822.4 - 1 388 c.332A>G c.(331-333)aAg>aGg p.K111R NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 111 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 gcactggggcttgcagcagct 0.662000 4 66 0 0 0.361761 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110439239 110439239 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:110439239G>A ENST00000378402.5 + 25 2958 c.2854G>A c.(2854-2856)Gct>Act p.A952T NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 952 immune response cytosol|extracellular space|integral to membrane receptor activity p.A954T(1)|p.A952T(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGGCCTCCCCGCTGCTGTGTC 0.562000 HNSCC(38;0.096) 8 109 0 0 0.335167 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221299 44221299 + Silent SNP C C T rs143048794 byFrequency TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:44221299C>T ENST00000371554.1 + 12 2353 c.2139C>T c.(2137-2139)ggC>ggT p.G713G HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 713 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.G713G(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTCTCGAGGGCGATGAGGATG 0.498000 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 72 0 0 0.592651 0 0 ASUN 55726 broad.mit.edu 37 12 27081791 27081791 + Missense_Mutation SNP A A C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:27081791A>C ENST00000261191.7 - 4 884 c.348T>G c.(346-348)gaT>gaG p.D116E ASUN_ENST00000539625.1_Missense_Mutation_p.D15E NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 116 cell division|mitosis|regulation of mitotic cell cycle protein binding AGCACTCTGGATCTGCCCGAG 0.448000 4 74 0 0 0.150653 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 90 0 0 0.150653 0 0 MUC2 4583 broad.mit.edu 37 11 1081737 1081737 + Silent SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:1081737C>T ENST00000441003.2 + 13 1692 c.1665C>T c.(1663-1665)aaC>aaT p.N555N MUC2_ENST00000359061.5_Silent_p.N555N NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 555 VWFD 2. inner mucus layer|outer mucus layer protein binding p.N555N(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCTTTGCCAACACCTGGAAGG 0.652000 13 57 0 0 0.435327 0 0 KDM6B 23135 broad.mit.edu 37 17 7752710 7752710 + Missense_Mutation SNP G G T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:7752710G>T ENST00000254846.5 + 11 3493 c.3104G>T c.(3103-3105)cGg>cTg p.R1035L KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1035 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAGAAGTCCCGGCCCGATCTT 0.662000 3 36 0.115264 0.119586 0.115264 1 0 MAML3 55534 broad.mit.edu 37 4 140811117 140811117 + Silent SNP C C T rs62344938 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:140811117C>T ENST00000509479.2 - 2 2329 c.1473G>A c.(1471-1473)caG>caA p.Q491Q MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 491 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgttgct 0.547000 7 27 0 0 0.278610 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409629 121409629 + Missense_Mutation SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr3:121409629C>T ENST00000393667.3 - 14 8692 c.8582G>A c.(8581-8583)cGa>cAa p.R2861Q GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2856Q NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2856 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CTCTGACTTTCGAAATTTCTC 0.458000 4 46 0 0 0.217242 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 5 9 0 0 0.361761 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651423 1651423 + Missense_Mutation SNP G G C rs76164438 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:1651423G>C ENST00000399676.2 + 1 391 c.353G>C c.(352-354)gGc>gCc p.G118A NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 118 8 X 4 AA repeats of C-C-X-P. Missing (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament p.G118A(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 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) TCCAAGGGGGGCTGTGGCTCC 0.701000 5 97 0 0 0.184627 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341560 55341560 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr19:55341560G>A ENST00000391728.4 + 9 1198 c.1165G>A c.(1165-1167)Gat>Aat p.D389N KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.D389N(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCAGGACTCTGATGAACAAGA 0.527000 68 361 0 0 0.870114 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274311 39274311 + Missense_Mutation SNP T T C rs425755 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:39274311T>C ENST00000391413.2 - 1 295 c.257A>G c.(256-258)aAg>aGg p.K86R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 86 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.K86R(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCTTGCAGCAGCT 0.657000 4 109 0 0 0.387290 0 0 SARDH 1757 broad.mit.edu 37 9 136597652 136597652 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:136597652G>A ENST00000371872.4 - 3 660 c.403C>T c.(403-405)Cgg>Tgg p.R135W SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.R135W|SARDH_ENST00000298628.5_Missense_Mutation_p.R135W|SARDH_ENST00000371867.1_Missense_Mutation_p.R46W NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 135 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity p.R135W(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TCCAGCTCCCGGCTCACCACC 0.677000 39 222 0 0 0.870114 0 0 ZAN 7455 broad.mit.edu 37 7 100350361 100350361 + RNA SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr7:100350361T>C ENST00000542585.1 + 0 2781 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACGGAAAAACTCACCATCCCC 0.502000 7 313 0 0 0.307466 0 0 SLC22A10 387775 broad.mit.edu 37 11 63059054 63059054 + Missense_Mutation SNP C C G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:63059054C>G ENST00000332793.6 + 2 447 c.445C>G c.(445-447)Caa>Gaa p.Q149E SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.Q97E|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 149 integral to membrane transmembrane transporter activity p.Q149E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATCAGTGGTTCAATTCCTACT 0.468000 16 110 0 0 0.557998 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 44 0 0 0.150653 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554289 20554289 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr16:20554289G>A ENST00000329697.6 - 12 1624 c.1456C>T c.(1456-1458)Cct>Tct p.P486S ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 486 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.P486S(2) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ACCACAGCAGGGTGCTTCATC 0.562000 13 124 0 0 0.479597 0 0 INTS7 25896 broad.mit.edu 37 1 212118153 212118153 + Silent SNP C C T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:212118153C>T ENST00000366994.3 - 19 2678 c.2574G>A c.(2572-2574)ctG>ctA p.L858L INTS7_ENST00000366993.3_Silent_p.L844L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.L809L|INTS7_ENST00000366992.3_Silent_p.L838L NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 858 snRNA processing integrator complex protein binding p.L858L(1) NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ATTTACTCTGCAGTGTGGAAG 0.423000 24 160 0 0 0.654019 0 0 EEF1E1 9521 broad.mit.edu 37 6 8097597 8097597 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:8097597G>A ENST00000379715.5 - 2 247 c.191C>T c.(190-192)aCt>aTt p.T64I EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I NM_004280.4 NP_004271.1 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 epsilon 1 64 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus p.T64I(1) endometrium(1)|prostate(1) 2 Ovarian(93;0.0398) TTCTTCTGCAGTACTCCCCAG 0.428000 18 162 0 0 0.539581 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190954 39190954 + Silent SNP G G A rs71300033 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:39190954G>A ENST00000344363.5 - 1 153 c.120C>T c.(118-120)tgC>tgT p.C40C NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 40 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCTGGTCTGGCAGCAGCTTG 0.607000 8 150 0 0 0.479597 0 0 HCRTR2 3062 broad.mit.edu 37 6 55142195 55142195 + Silent SNP T T C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr6:55142195T>C ENST00000370862.3 + 5 1116 c.780T>C c.(778-780)tcT>tcC p.S260S NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 260 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GAACATCATCTGTAGTTCAGA 0.483000 9 75 0 0 0.335167 0 0 AC006293.3 0 broad.mit.edu 37 19 55220779 55220779 + RNA SNP C C T rs28394351 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr19:55220779C>T ENST00000413439.1 + 0 808 TGATGTGGGACGCGTGAGCCC 0.602000 9 43 0 0 0.307466 0 0 SSH1 54434 broad.mit.edu 37 12 109181845 109181845 + Missense_Mutation SNP C C G rs146644569 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:109181845C>G ENST00000326495.5 - 15 3162 c.3069G>C c.(3067-3069)agG>agC p.R1023S SSH1_ENST00000360239.3_Missense_Mutation_p.R711S NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 1023 Interaction with YWHAG. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R1023S(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CAGCTGGGTCCCTCGGGGTTC 0.572000 28 187 0 0 0.706142 0 0 CCL7 6354 broad.mit.edu 37 17 32597376 32597376 + Missense_Mutation SNP G G A TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:32597376G>A ENST00000378569.2 + 1 137 c.67G>A c.(67-69)Gct>Act p.A23T CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T|CCL7_ENST00000200307.4_Missense_Mutation_p.A33T NM_006273.2 NP_006264.2 P80098 CCL7_HUMAN chemokine (C-C motif) ligand 7 23 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Breast(3;0.00224) Breast(31;0.151)|Ovarian(249;0.17) BRCA - Breast invasive adenocarcinoma(366;0.155) CCAGGGGCTTGCTCAGCCAGG 0.557000 9 85 0 0 0.361761 0 0 FBXO6 26270 broad.mit.edu 37 1 11733821 11733821 + Frame_Shift_Del DEL G G - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:11733821delG ENST00000376753.4 + 6 930 c.795delG c.(793-795)cafs p.Q265fs NM_018438.5 NP_060908.1 Q9NRD1 FBX6_HUMAN F-box protein 6 265 DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex glycoprotein binding breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 6 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGAACCAGGCCTCCTCCG 0.617 8 91 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 8 439 --- --- --- --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 7 233 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 4 7 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389462 1389463 + Frame_Shift_Del DEL CG CG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:1389462_1389463delCG ENST00000324803.4 + 1 4123_4124 c.1163_1164delCG c.(1162-1164)afs p.T388fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 388 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGCTCACACACGTGCCCATGTG 0.624 7 513 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 7 84 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 7 175 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284884 38284885 + RNA INS - - GG rs138091320 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr7:38284884_38284885insGG ENST00000436911.2 - 0 330 TTATTTGTCAAGgtgtgtgtgt 0.391 22 116 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 154 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 9 208 --- --- --- --- KIAA2026 158358 broad.mit.edu 37 9 5968044 5968044 + Frame_Shift_Del DEL T T - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:5968044delT ENST00000399933.3 - 3 2186 c.2187delA c.(2185-2187)aafs p.K729fs KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 729 Lys-rich. p.A730fs*15(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGTGTTTTGCTTTTTTTTTGA 0.323 2 4 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 14 320 --- --- --- --- PNPLA7 375775 broad.mit.edu 37 9 140437911 140437912 + Frame_Shift_Ins INS - - C TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr9:140437911_140437912insC ENST00000406427.1 - 6 814_815 c.478_479insG c.(478-480)agtfs p.S160fs PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.S135fs NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 135 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GTACAGAACTTCCGATGGCAGG 0.639 7 197 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15256160 15256160 + Frame_Shift_Del DEL C C - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr10:15256160delC ENST00000378116.4 - 8 1433 c.1427delG c.(1426-1428)gcfs p.G476fs NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 476 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGACTCGTAGCCTTCTCTTTC 0.483 21 132 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 9 150 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61832387 61832388 + Frame_Shift_Ins INS - - T TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr10:61832387_61832388insT ENST00000280772.1 - 37 8442_8443 c.8251_8252insA c.(8251-8253)acafs p.T2751fs ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2751 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTCTCCTGTATTTTTTTAACT 0.401 18 156 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662745 6662746 + In_Frame_Ins INS - - CAG rs56194704 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr11:6662745_6662746insCAG ENST00000299441.3 - 2 510_511 c.99_100insCTG c.(97-102)ctgggc>ctCTGgggc p.33_34LG>LWG NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L33_G34insL(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCCAGCCCCcagcagcagca 0.639 5 8 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 29 77 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 9 3 --- --- --- --- RRN3P1 0 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 4 6 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 8 78 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 7 240 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 8 133 --- --- --- --- CCDC105 126402 broad.mit.edu 37 19 15121690 15121691 + Frame_Shift_Del DEL CC CC - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr19:15121690_15121691delCC ENST00000292574.3 + 1 135_136 c.53_54delCC c.(52-54)gfs p.A18fs NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 18 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CGCGTTGGGGCCCCAGCATGGC 0.698 5 2 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 7 215 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 7 11 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17119446 17119447 + RNA INS - - TTTATTTA rs12167854 by1000genomes TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 729e845e-9b3f-47df-9400-07a81f3a5c12 85790f6e-85d7-4f6a-8784-4900d2364873 g.chr22:17119446_17119447insTTTATTTA ENST00000426585.1 + 0 280 ttatttatttatttgtttgttt 0.322 7 35 --- --- --- ---