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 LOXL4 84171 broad.mit.edu 37 10 100010909 100010909 + Missense_Mutation SNP C C T rs141069497 TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr10:100010909C>T ENST00000260702.3 - 14 2263 c.2113G>A c.(2113-2115)Gtg>Atg p.V705M NM_032211.6 NP_115587.6 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 705 Lysyl-oxidase like. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2) 26 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) GACTCTGCCACTTCATAGTGG 0.498000 3 51 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75283017 75283017 + Missense_Mutation SNP C C A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr11:75283017C>A ENST00000524558.1 + 5 2581 c.1146C>A c.(1144-1146)ttC>ttA p.F382L SERPINH1_ENST00000525876.1_Missense_Mutation_p.F165L|SERPINH1_ENST00000533603.1_Missense_Mutation_p.F382L|SERPINH1_ENST00000358171.3_Missense_Mutation_p.F382L P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 382 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CCAAGCTGTTCTACGCCGACC 0.617000 26 23 1.66031e-10 1.74925e-10 1 1 0 EXOSC4 54512 broad.mit.edu 37 8 145134875 145134875 + Silent SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr8:145134875G>A ENST00000316052.5 + 2 304 c.201G>A c.(199-201)ccG>ccA p.P67P EXOSC4_ENST00000525936.1_Silent_p.P67P NM_019037.2 NP_061910.1 Q9NPD3 EXOS4_HUMAN exosome component 4 67 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding lung(4)|prostate(1)|upper_aerodigestive_tract(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGCCCTGCCGGACAGGGCCC 0.617000 7 222 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961619 85961619 + Missense_Mutation SNP C C T rs145952783 by1000genomes TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr3:85961619C>T ENST00000383699.3 + 6 1253 c.626C>T c.(625-627)gCg>gTg p.A209V CADM2_ENST00000407528.2_Missense_Mutation_p.A200V|CADM2_ENST00000405615.2_Missense_Mutation_p.A202V NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 200 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GATGGAGTGGCGGTCATCTGC 0.478000 3 48 0 0 1 0 0 GPR3 2827 broad.mit.edu 37 1 27721052 27721052 + Silent SNP C C T rs149402253 TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr1:27721052C>T ENST00000374024.3 + 2 849 c.750C>T c.(748-750)gcC>gcT p.A250A NM_005281.3 NP_005272.1 P46089 GPR3_HUMAN G protein-coupled receptor 3 250 activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane endometrium(3)|lung(3)|ovary(1)|skin(1) 8 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) CCACACTGGCCGTGGTGCTTG 0.627000 4 84 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25334890 25334890 + RNA SNP G G T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr15:25334890G>T ENST00000546682.1 + 0 716 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 GGTGGTGTTGGTATAAAAAGC 0.542000 3 4 6.4e-05 6.51034e-05 1 1 0 LOC101927648 101927648 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 2 4 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659813 24659813 + RNA SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr22:24659813C>T ENST00000414583.2 + 0 3338 NR_003714.1 ATCTGCGCACCCGGAGGTGGG 0.607000 4 6 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821061 151821061 + Missense_Mutation SNP G G C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chrX:151821061G>C ENST00000370306.2 + 9 1236 c.1216G>C c.(1216-1218)Gcc>Ccc p.A406P NM_018558.2 NP_061028.3 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 406 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CCCAGCGCAGGCCCCCCTGGC 0.587000 46 52 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109687811 109687811 + Missense_Mutation SNP G G A rs3742025 TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr12:109687811G>A ENST00000338432.7 + 41 5811 c.5692G>A c.(5692-5694)Ggg>Agg p.G1898R ACACB_ENST00000543201.1_Missense_Mutation_p.G564R|ACACB_ENST00000377854.5_Missense_Mutation_p.G1828R|ACACB_ENST00000377848.3_Missense_Mutation_p.G1898R O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1898 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGATATCATCGGGAAGGATGA 0.507000 6 97 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6078430 6078430 + Missense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr12:6078430G>A ENST00000261405.5 - 45 7930 c.7676C>T c.(7675-7677)tCg>tTg p.S2559L NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 2559 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.S2559L(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTGAAAGCCCGAGGGGCAGAC 0.592000 12 27 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215976354 215976354 + Silent SNP A A C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr2:215976354A>C ENST00000272895.7 - 2 348 c.129T>G c.(127-129)acT>acG p.T43T ABCA12_ENST00000412081.1_Silent_p.T43T NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 43 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ATTTGGTCCGAGTAATAGCCA 0.299000 3 14 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659809 24659809 + RNA SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr22:24659809G>A ENST00000414583.2 + 0 3334 NR_003714.1 CCCTATCTGCGCACCCGGAGG 0.612000 4 5 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C T rs104894226 TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr11:534285C>T ENST00000417302.1 - 2 225 c.38G>A c.(37-39)gGt>gAt p.G13D HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13D|HRAS_ENST00000397596.2_Missense_Mutation_p.G13D|HRAS_ENST00000451590.1_Missense_Mutation_p.G13D|HRAS_ENST00000397594.1_Missense_Mutation_p.G13D NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 11 35 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956393 73956393 + Missense_Mutation SNP T T C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr4:73956393T>C ENST00000358602.4 - 29 7068 c.6952A>G c.(6952-6954)Agt>Ggt p.S2318G ANKRD17_ENST00000330838.6_Missense_Mutation_p.S2067G|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2205G NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 2318 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCTGAGGGACTTGGAGCAGGT 0.378000 27 33 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103301857 103301857 + Silent SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr7:103301857G>A ENST00000428762.1 - 12 1566 c.1407C>T c.(1405-1407)acC>acT p.T469T RELN_ENST00000343529.5_Silent_p.T469T|RELN_ENST00000424685.2_Silent_p.T469T NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 469 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCCATAACCGGTAGTGTCCA 0.448000 3 45 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717033 142717033 + Missense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chrX:142717033G>A ENST00000381779.4 - 2 2117 c.1892C>T c.(1891-1893)aCg>aTg p.T631M SLITRK4_ENST00000338017.4_Missense_Mutation_p.T631M|SLITRK4_ENST00000356928.1_Missense_Mutation_p.T631M NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 631 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AACAAACACCGTTAAAATGAG 0.473000 45 81 0 0 1 0 0 C5AR1 728 broad.mit.edu 37 19 47823367 47823367 + Silent SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr19:47823367C>T ENST00000355085.3 + 2 355 c.333C>T c.(331-333)atC>atT p.I111I NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 111 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCTGCAGCATCCTGCCCTCCC 0.617000 42 46 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106927094 106927094 + Missense_Mutation SNP G G T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr10:106927094G>T ENST00000369701.3 + 13 2115 c.1888G>T c.(1888-1890)Gtc>Ttc p.V630F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 630 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACCTCTGCCAGTCAGGCATTT 0.458000 17 22 1.02788e-11 1.10264e-11 1 1 0 TRPV3 162514 broad.mit.edu 37 17 3433367 3433367 + Missense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr17:3433367G>A ENST00000301365.4 - 9 1327 c.1196C>T c.(1195-1197)aCg>aTg p.T399M TRPV3_ENST00000572519.1_Missense_Mutation_p.T399M|TRPV3_ENST00000576742.1_Missense_Mutation_p.T399M Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 399 integral to membrane calcium channel activity p.T399M(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TGAGTTGTCCGTGGTGGTGTC 0.607000 29 34 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99695255 99695255 + Nonsense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr7:99695255G>A ENST00000303887.5 - 9 1744 c.1099C>T c.(1099-1101)Cga>Tga p.R367* MCM7_ENST00000354230.3_Nonsense_Mutation_p.R191*|MCM7_ENST00000343023.6_Intron NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 367 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TTCATGCCTCGAGGAGACTGG 0.517000 21 372 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753467 76753467 + Silent SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr18:76753467C>T ENST00000536229.3 + 1 1786 c.1077C>T c.(1075-1077)ccC>ccT p.P359P SALL3_ENST00000537592.2_Silent_p.P492P|SALL3_ENST00000575389.2_Silent_p.P492P Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P492P(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACAACGTGCCCACCTGCTCGG 0.647000 12 1 0 0 1 0 0 GNL3 26354 broad.mit.edu 37 3 52727447 52727447 + Missense_Mutation SNP A A T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr3:52727447A>T ENST00000394799.2 + 12 1385 c.1175A>T c.(1174-1176)cAt>cTt p.H392L GNL3_ENST00000418458.1_Missense_Mutation_p.H404L NM_206825.1 NP_996561.1 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 (nucleolar) 404 Intermediate (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding breast(4)|endometrium(3)|large_intestine(3)|lung(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) TACTATTGCCATCCCCCTACA 0.378000 58 66 0 0 1 0 0 SLC25A15 10166 broad.mit.edu 37 13 41383686 41383686 + Silent SNP G G A rs144478411 TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr13:41383686G>A ENST00000338625.4 + 7 1025 c.789G>A c.(787-789)acG>acA p.T263T NM_014252.3 NP_055067.1 Q9Y619 ORNT1_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 263 cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1) 14 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) TAGGAATAACGGCCTTATATT 0.443000 4 58 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19854267 19854267 + Silent SNP A A C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chrX:19854267A>C ENST00000397821.3 - 2 428 c.138T>G c.(136-138)ggT>ggG p.G46G SH3KBP1_ENST00000379697.3_Silent_p.G46G NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 46 SH3 1. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CAGGGAACAAACCTCTCCTGC 0.522000 8 160 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140407315 140407315 + Silent SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr3:140407315C>T ENST00000286349.3 + 3 1982 c.1791C>T c.(1789-1791)aaC>aaT p.N597N NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 597 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ACTCATTCAACGATGGCTCTG 0.547000 53 71 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27445903 27445903 + Missense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr2:27445903G>A ENST00000264705.4 + 6 969 c.807G>A c.(805-807)atG>atA p.M269I CAD_ENST00000403525.1_Missense_Mutation_p.M269I NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 269 GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTTACAAGATGAGGTGGGACT 0.522000 36 35 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86991093 86991093 + Missense_Mutation SNP C C G TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr7:86991093C>G ENST00000331536.3 + 6 657 c.472C>G c.(472-474)Caa>Gaa p.Q158E CROT_ENST00000442291.1_Missense_Mutation_p.Q158E|CROT_ENST00000419147.2_Missense_Mutation_p.Q186E NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 158 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) AGATATGAATCAATTCCGAAT 0.299000 3 33 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 14 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10417481 10417481 + Nonsense_Mutation SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chrX:10417481C>T ENST00000317552.4 - 10 2331 c.1931G>A c.(1930-1932)tGg>tAg p.W644* MID1_ENST00000380780.1_Nonsense_Mutation_p.W644*|MID1_ENST00000380779.1_Nonsense_Mutation_p.W644*|MID1_ENST00000453318.2_Nonsense_Mutation_p.W644*|MID1_ENST00000380785.1_Nonsense_Mutation_p.W644*|MID1_ENST00000380787.1_Nonsense_Mutation_p.W644*|MID1_ENST00000380782.2_3'UTR NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 644 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 ACACTTGTTCCACACGGTGAA 0.537000 44 46 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65854979 65854979 + Nonsense_Mutation SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr1:65854979C>T ENST00000395325.3 + 10 1220 c.1063C>T c.(1063-1065)Cag>Tag p.Q355* DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.Q412*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.Q342* NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 355 C2 tensin-type. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 AAAATATCCTCAGCTATTTCA 0.373000 12 22 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38161002 38161002 + Silent SNP A A G TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr19:38161002A>G ENST00000358582.4 - 4 796 c.48T>C c.(46-48)tgT>tgC p.C16C ZNF781_ENST00000590008.1_Silent_p.C16C|ZFP30_ENST00000586732.1_Intron NM_152605.3 NP_689818.2 Q8N8C0 ZN781_HUMAN zinc finger protein 781 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 GTTGAAAGTTACAAGCAGTCT 0.363000 10 40 0 0 1 0 0 HECA 51696 broad.mit.edu 37 6 139488110 139488110 + Missense_Mutation SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr6:139488110C>T ENST00000367658.2 + 2 1246 c.961C>T c.(961-963)Cac>Tac p.H321Y RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 321 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CAGAAATGCCCACTTTGATTA 0.602000 33 64 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519708 52519708 + Silent SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr19:52519708G>A ENST00000270649.6 - 5 1687 c.1143C>T c.(1141-1143)acC>acT p.T381T ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T381T(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGCTCTTCACGGTAAAGCCTT 0.453000 5 151 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57490852 57490852 + Splice_Site SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr12:57490852G>A ENST00000300134.3 - 20 2549 c.2224C>T c.(2224-2226)Cag>Tag p.Q742* STAT6_ENST00000454075.3_Splice_Site_p.Q742*|STAT6_ENST00000543873.2_Splice_Site_p.Q742*|STAT6_ENST00000537215.2_Splice_Site_p.Q632*|STAT6_ENST00000538913.2_Splice_Site_p.Q632*|STAT6_ENST00000556155.1_Splice_Site_p.Q742* NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 742 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GTCACTCACTGGGGGTGAGGC 0.617000 30 39 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450563 105450563 + Missense_Mutation SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chrX:105450563C>T ENST00000337685.2 + 5 1923 c.1138C>T c.(1138-1140)Cgc>Tgc p.R380C MUM1L1_ENST00000372552.1_Missense_Mutation_p.R380C|MUM1L1_ENST00000357175.2_Missense_Mutation_p.R380C NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 380 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGAACTTCCACGCTTCATTTT 0.373000 5 10 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680389 100680389 + Missense_Mutation SNP G G C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr7:100680389G>C ENST00000306151.4 + 3 5756 c.5692G>C c.(5692-5694)Gtg>Ctg p.V1898L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1898 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCACACCTGTGACCACTTA 0.493000 154 186 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32587237 32587237 + Missense_Mutation SNP A A G TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr22:32587237A>G ENST00000400236.3 - 5 1594 c.389T>C c.(388-390)cTt>cCt p.L130P RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.L159P|RFPL2_ENST00000400237.1_Missense_Mutation_p.L220P|RFPL2_ENST00000248983.4_Missense_Mutation_p.L130P NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 220 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 TCTCTCGGCAAGGTCTTGCCG 0.567000 66 61 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 6 71 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103405911 103405911 + Missense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr1:103405911G>A ENST00000358392.2 - 43 3709 c.3392C>T c.(3391-3393)gCc>gTc p.A1131V COL11A1_ENST00000353414.4_Missense_Mutation_p.A1080V|COL11A1_ENST00000512756.1_Missense_Mutation_p.A1003V|COL11A1_ENST00000370096.3_Missense_Mutation_p.A1119V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1119 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGGGAGCCGGCAGGACCAGC 0.473000 24 48 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87092154 87092154 + Missense_Mutation SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr7:87092154G>A ENST00000265723.4 - 4 317 c.206C>T c.(205-207)tCa>tTa p.S69L ABCB4_ENST00000358400.3_Missense_Mutation_p.S69L|ABCB4_ENST00000545634.1_Missense_Mutation_p.S69L|ABCB4_ENST00000453593.1_Missense_Mutation_p.S69L|ABCB4_ENST00000359206.3_Missense_Mutation_p.S69L NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 69 ABC transmembrane type-1 1. IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GGGGAGACCTGATCCGTGAGC 0.393000 4 38 0 0 1 0 0 MEIS2 4212 broad.mit.edu 37 15 37385842 37385842 + Silent SNP G G A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr15:37385842G>A ENST00000338564.5 - 7 1025 c.579C>T c.(577-579)gaC>gaT p.D193D MEIS2_ENST00000557796.2_Silent_p.D180D|MEIS2_ENST00000382766.2_Silent_p.D193D|MEIS2_ENST00000340545.5_Silent_p.D180D|MEIS2_ENST00000397624.3_Silent_p.D105D|MEIS2_ENST00000559085.1_Silent_p.D180D|MEIS2_ENST00000559561.1_Silent_p.D193D|MEIS2_ENST00000424352.2_Silent_p.D193D|MEIS2_ENST00000561208.1_Silent_p.D193D|MEIS2_ENST00000444725.1_Silent_p.D193D|MEIS2_ENST00000397620.2_Silent_p.D105D|MEIS2_ENST00000219869.9_Silent_p.D47D NM_001220482.1 NP_001207411.1 O14770 MEIS2_HUMAN Meis homeobox 2 193 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TGGAGCTGCCGTCTCTTTCAT 0.478000 4 105 0 0 1 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107973 26107973 + Missense_Mutation SNP G G T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr6:26107973G>T ENST00000338379.4 - 1 391 c.349C>A c.(349-351)Cct>Act p.P117T NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 117 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 GTAGATTTAGGAATCACCTTC 0.453000 4 78 0.150653 0.150653 1 1 0 SMOC2 64094 broad.mit.edu 37 6 168910762 168910762 + Silent SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr6:168910762C>T ENST00000354536.5 + 2 472 c.252C>T c.(250-252)tgC>tgT p.C84C SMOC2_ENST00000356284.2_Silent_p.C84C NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 84 Kazal-like. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) GAGGAAACTGCAAAGGTAAGC 0.408000 3 33 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152589670 152589670 + Translation_Start_Site DEL T T - TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr2:152589670delT ENST00000427231.2 - 0 203 NEB_ENST00000603639.1_Start_Codon_Del|NEB_ENST00000409198.1_Start_Codon_Del|NEB_ENST00000172853.10_Start_Codon_Del|NEB_ENST00000397345.3_Start_Codon_Del|NEB_ENST00000604864.1_Start_Codon_Del NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCATCTGCCATTTTTCCAGAG 0.348 2 4 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2702235 2702237 + In_Frame_Del DEL AAG AAG - TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr4:2702235_2702237delAAG ENST00000324666.5 + 17 3814_3816 c.3463_3465delAAG c.(3463-3465)aagdel p.K1158del FAM193A_ENST00000545951.1_In_Frame_Del_p.K1158del|FAM193A_ENST00000505311.1_In_Frame_Del_p.K1158del|FAM193A_ENST00000382839.3_In_Frame_Del_p.K1158del|FAM193A_ENST00000502458.1_In_Frame_Del_p.K1180del NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1158 Poly-Lys. NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CAAGAAAAATAAGAAGAAGAAAG 0.488 16 34 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149509596 149509597 + RNA INS - - C TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr7:149509596_149509597insC ENST00000378016.2 + 0 9922 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCAGGGAGAGAGGCCAGGGTGG 0.634 20 23 --- --- --- --- RTN4RL2 349667 broad.mit.edu 37 11 57243990 57243990 + Frame_Shift_Del DEL C C - TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr11:57243990delC ENST00000335099.3 + 3 1186 c.869delC c.(868-870)accfs p.T290fs RP11-624G17.3_ENST00000528885.1_RNA NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 290 LRRCT. axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 ACCTGCGCCACCCCCCCGGAG 0.796 2 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434785 49434789 + Frame_Shift_Del DEL AGCCA AGCCA - TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr12:49434785_49434789delAGCCA ENST00000301067.7 - 31 6763_6767 c.6764_6768delTGGCT c.(6763-6768)ttggctfs p.LA2255fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCTCAGGCACAGCCAAGTTATCCAG 0.644 16 42 --- --- --- --- TRAV9-1 28678 broad.mit.edu 37 14 22279845 22279846 + RNA INS - - T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr14:22279845_22279846insT ENST00000390431.3 + 0 46 TAATTTGTTTATTTTTTTTTCA 0.406 2 4 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44128062 44128062 + Frame_Shift_Del DEL C C - TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr17:44128062delC ENST00000262419.6 - 7 2327 c.1857delG c.(1855-1857)cggfs p.R619fs KANSL1_ENST00000572904.1_Frame_Shift_Del_p.R619fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.R619fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.R619fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.R619fs NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 619 MLL1 complex protein binding TTGTGCTGTTCCGGTGAACCT 0.473 10 20 --- --- --- --- SIRT7 51547 broad.mit.edu 37 17 79872214 79872215 + Frame_Shift_Ins INS - - A TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx d629fc40-ebf2-4d3b-acc3-b5e23bc28dc6 80ca6d54-d867-4c1d-9a4b-4aa2a038566f g.chr17:79872214_79872215insA ENST00000328666.6 - 7 833_834 c.771_772insT c.(769-774)gctgccfs p.A258fs NM_016538.2 NP_057622.1 Q9NRC8 SIRT7_HUMAN sirtuin 7 258 Deacetylase sirtuin-type. chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription cytoplasm|nucleolus organizer region hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GCTCTGCTGGCAGCCTCGGTCG 0.629 32 30 --- --- --- ---