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 ADRB2 154 broad.mit.edu 37 5 148206584 148206584 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:148206584C>T ENST00000305988.4 + 1 429 c.190C>T c.(190-192)Ctg>Ttg p.L64L NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 64 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) GTTCGAGCGTCTGCAGACGGT 0.562000 15 28 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825239 121825239 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:121825239G>A ENST00000330540.2 + 4 711 c.595G>A c.(595-597)Gtt>Att p.V199I CD86_ENST00000493101.1_Missense_Mutation_p.V87I|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.V117I|CD86_ENST00000393627.2_Missense_Mutation_p.V193I NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 199 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) ACTGTACGACGTTTCCATCAG 0.393000 36 135 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115961190 115961190 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr9:115961190G>A ENST00000238256.3 - 8 779 c.662C>T c.(661-663)aCt>aTt p.T221I NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 221 PPIase FKBP-type. endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTTGTTAGCAGTGGAGTCGAA 0.353000 4 8 0 0 1 0 0 ANKRD23 200539 broad.mit.edu 37 2 97506529 97506529 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:97506529C>T ENST00000318357.4 - 4 462 c.421G>A c.(421-423)Gac>Aac p.D141N ANKRD23_ENST00000476975.1_Intron|ANKRD23_ENST00000331001.2_Intron|ANKRD23_ENST00000418232.1_Missense_Mutation_p.D141N NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 141 nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 GCTACCTTGTCATGGGCATTG 0.592000 39 138 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141545328 141545328 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:141545328C>A ENST00000442267.2 - 20 3094 c.3020G>T c.(3019-3021)tGg>tTg p.W1007L NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1007 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTCTGGAGTCCACAGTCTCAA 0.353000 4 21 0.014758 0.0153006 1 1 0 PRMT3 10196 broad.mit.edu 37 11 20417373 20417373 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr11:20417373T>G ENST00000331079.6 + 6 642 c.425T>G c.(424-426)gTg>gGg p.V142G PRMT3_ENST00000437750.2_Missense_Mutation_p.V80G NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 142 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 TATGAACCGGTGTCAGTACCC 0.353000 15 58 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42680029 42680029 + Silent SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr20:42680029C>A ENST00000358131.5 + 4 730 c.522C>A c.(520-522)gcC>gcA p.A174A TOX2_ENST00000435864.2_Silent_p.A43A|TOX2_ENST00000423191.1_Silent_p.A123A|TOX2_ENST00000372999.1_Silent_p.A123A|TOX2_ENST00000341197.3_Silent_p.A165A NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CAATGCTGGCCAGCCACATGA 0.662000 6 32 0.00448238 0.00471654 1 1 0 BPTF 2186 broad.mit.edu 37 17 65925581 65925581 + Missense_Mutation SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr17:65925581G>T ENST00000321892.4 + 19 6567 c.6506G>T c.(6505-6507)gGa>gTa p.G2169V BPTF_ENST00000335221.5_Missense_Mutation_p.G2169V|BPTF_ENST00000424123.3_Missense_Mutation_p.G2030V|BPTF_ENST00000306378.6_Missense_Mutation_p.G2043V Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2169 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCAGGCTCTGGAGGAACCACA 0.408000 12 58 1.3612e-06 1.44308e-06 1 1 0 ZNF160 90338 broad.mit.edu 37 19 53572735 53572735 + Missense_Mutation SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:53572735C>G ENST00000601421.1 - 3 1820 c.944G>C c.(943-945)aGa>aCa p.R315T ZNF160_ENST00000429604.1_Missense_Mutation_p.R351T|ZNF160_ENST00000418871.1_Missense_Mutation_p.R351T|ZNF160_ENST00000599056.1_Missense_Mutation_p.R351T Q9HCG1 ZN160_HUMAN zinc finger protein 160 351 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TGAATGTCCTCTAAAGGCTTT 0.403000 25 54 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 988794 988794 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:988794C>T ENST00000315939.6 + 11 3072 c.2429C>T c.(2428-2430)gCg>gTg p.A810V WNK1_ENST00000530271.2_Missense_Mutation_p.A1308V|WNK1_ENST00000340908.4_Missense_Mutation_p.A403V|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 810 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ATCCCAGTTGCGACACAACCC 0.507000 28 90 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152499796 152499796 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:152499796C>T ENST00000427231.2 - 58 8230 c.8028G>A c.(8026-8028)gaG>gaA p.E2676E NEB_ENST00000409198.1_Silent_p.E2676E|NEB_ENST00000172853.10_Silent_p.E2676E|NEB_ENST00000397345.3_Silent_p.E2676E|NEB_ENST00000603639.1_Silent_p.E2676E|NEB_ENST00000604864.1_Silent_p.E2676E NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2676 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) GTTTATTTTTCTCATCCTCGA 0.413000 23 56 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173996886 173996886 + Silent SNP A A C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:173996886A>C ENST00000457714.1 + 6 1524 c.1095A>C c.(1093-1095)atA>atC p.I365I NLGN1_ENST00000401917.3_Silent_p.I405I|NLGN1_ENST00000361589.4_Silent_p.I365I|NLGN1_ENST00000545397.1_Silent_p.I365I|NLGN1_ENST00000466350.1_3'UTR NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 382 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTGATGTAATACCAGACGACC 0.403000 41 169 0 0 1 0 0 KREMEN2 79412 broad.mit.edu 37 16 3016183 3016183 + Silent SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr16:3016183G>A ENST00000572045.1 + 3 617 c.312G>A c.(310-312)gaG>gaA p.E104E KREMEN2_ENST00000319500.6_Silent_p.E104E|KREMEN2_ENST00000303746.5_Silent_p.E104E|KREMEN2_ENST00000575769.1_Silent_p.E104E|KREMEN2_ENST00000571007.1_Silent_p.E104E|KREMEN2_ENST00000575885.1_Silent_p.E104E NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 104 Kringle. Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 ACGTGGCTGAGACAGAGGAGG 0.637000 30 103 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104205098 104205098 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr14:104205098C>A ENST00000202556.9 - 14 3064 c.2782G>T c.(2782-2784)Gcc>Tcc p.A928S PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A347S NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 928 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GCGCAGACGGCGTTGTGCAGT 0.607000 39 116 2.13384e-23 2.54976e-23 1 1 0 SBSN 374897 broad.mit.edu 37 19 36015641 36015641 + Missense_Mutation SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:36015641G>T ENST00000452271.2 - 3 1749 c.1721C>A c.(1720-1722)cCt>cAt p.P574H SBSN_ENST00000518157.1_Missense_Mutation_p.P231H NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 231 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTTGATGAAAGGCGTGTTGAC 0.597000 18 52 6.33239e-15 7.20054e-15 1 1 0 TG 7038 broad.mit.edu 37 8 133895218 133895218 + Missense_Mutation SNP G G A rs113998044 by1000genomes TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr8:133895218G>A ENST00000220616.4 + 8 1089 c.1049G>A c.(1048-1050)cGg>cAg p.R350Q TG_ENST00000377869.1_Missense_Mutation_p.R350Q NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 350 Thyroglobulin type-1 4. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CATGGAACCCGGCAGCAAGGG 0.617000 3 23 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 12011 12011 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chrM:12011T>C ENST00000361381.2 + 1 1252 c.1252T>C c.(1252-1254)Tca>Cca p.418_418insP mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CACAATGGGGCTCACTCACCC 0.453000 22 11 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361160 70361160 + Silent SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:70361160T>C ENST00000305107.6 - 1 466 c.420A>G c.(418-420)ctA>ctG p.L140L UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.L140L|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 140 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTGACTCCTGTAGTTTCTTCA 0.368000 5 16 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98080419 98080419 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:98080419T>G ENST00000419175.1 + 4 722 c.552T>G c.(550-552)aaT>aaG p.N184K DNTT_ENST00000371174.2_Missense_Mutation_p.N184K NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 184 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TTAGAGAAAATGAAGACTCCT 0.443000 22 72 0 0 1 0 0 PSMD3 5709 broad.mit.edu 37 17 38151727 38151727 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr17:38151727G>A ENST00000264639.4 + 9 1441 c.1267G>A c.(1267-1269)Gcc>Acc p.A423T PSMD3_ENST00000541736.1_Missense_Mutation_p.A285T NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 423 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) GGCTGACATCGCCCAGAAGCT 0.562000 29 91 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14378302 14378302 + Missense_Mutation SNP A A G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:14378302A>G ENST00000403951.2 - 23 2382 c.1963T>C c.(1963-1965)Tct>Cct p.S655P DGKB_ENST00000444700.2_Missense_Mutation_p.S636P|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.S655P|DGKB_ENST00000406247.3_Missense_Mutation_p.S655P|DGKB_ENST00000399322.3_Missense_Mutation_p.S655P|DGKB_ENST00000402815.1_Missense_Mutation_p.S654P|DGKB_ENST00000407950.1_Missense_Mutation_p.S647P Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 655 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CCTTCCAGAGAGATGTTTATT 0.353000 8 46 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128389852 128389852 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:128389852T>G ENST00000389524.4 + 38 5259 c.5206T>G c.(5206-5208)Tgg>Ggg p.W1736G MYO7B_ENST00000409090.1_Missense_Mutation_p.W588G|MYO7B_ENST00000428314.1_Missense_Mutation_p.W1735G|MYO7B_ENST00000409816.2_Missense_Mutation_p.W1735G Q6PIF6 MYO7B_HUMAN myosin VIIB 1735 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCAGCTGCTGTGGCTGTGCAC 0.677000 6 23 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21842370 21842370 + Missense_Mutation SNP T T A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:21842370T>A ENST00000382254.1 - 8 1800 c.714A>T c.(712-714)caA>caT p.Q238H CDH12_ENST00000504376.2_Missense_Mutation_p.Q238H|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.Q198H NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 238 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TATCCTTGGCTTGGATGAGTA 0.398000 HNSCC(59;0.17) 34 173 0 0 1 0 0 RPP21 79897 broad.mit.edu 37 6 30313016 30313016 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:30313016G>A ENST00000428040.2 + 1 81 c.68G>A c.(67-69)cGa>cAa p.R23Q RPP21_ENST00000442966.2_Intron|RPP21_ENST00000436442.2_Intron|RPP21_ENST00000433076.2_Intron|RPP21_ENST00000466327.1_Intron|TRIM39-RPP21_ENST00000513556.1_Intron ribonuclease P/MRP 21kDa subunit endometrium(2)|ovary(1)|prostate(1) 4 GTGAGTCTGCGACAAGGGCCC 0.706000 8 14 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6150513 6150513 + Silent SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:6150513G>T ENST00000164247.1 + 10 1044 c.480G>T c.(478-480)ccG>ccT p.P160P KCNAB2_ENST00000378083.3_Silent_p.P193P|KCNAB2_ENST00000378097.1_Silent_p.P160P|KCNAB2_ENST00000352527.1_Silent_p.P146P|KCNAB2_ENST00000341524.1_Silent_p.P160P|KCNAB2_ENST00000602612.1_Silent_p.P160P|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000458166.2_Silent_p.P93P|KCNAB2_ENST00000378092.1_Silent_p.P146P NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 160 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) CCAACCGCCCGGACCCCAACA 0.662000 8 46 5.4927e-09 6.00365e-09 1 1 0 ACBD5 91452 broad.mit.edu 37 10 27520740 27520740 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:27520740C>A ENST00000396271.3 - 4 438 c.312G>T c.(310-312)tgG>tgT p.W104C ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.W69C|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.W102C NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 102 ACB. transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CCAGTGAACTCCAAGCATCCC 0.333000 24 67 2.61193e-14 2.94626e-14 1 1 0 UMPS 7372 broad.mit.edu 37 3 124449468 124449468 + Silent SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:124449468G>A ENST00000232607.2 + 1 256 c.150G>A c.(148-150)ctG>ctA p.L50L UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 50 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) CGCGTCTTCTGAGTCAGGTGC 0.587000 13 52 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186336883 186336883 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:186336883G>A ENST00000264689.6 - 5 588 c.472C>T c.(472-474)Cca>Tca p.P158S NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 158 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) GTTTCTTCTGGAGCAACAGAT 0.433000 25 94 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18574431 18574431 + Missense_Mutation SNP T T A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr20:18574431T>A ENST00000377452.3 + 2 280 c.100T>A c.(100-102)Tcc>Acc p.S34T DTD1_ENST00000494921.1_3'UTR NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 34 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 GCTGGGTATTTCCCTGGAGGA 0.473000 11 54 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133175319 133175319 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:133175319T>G ENST00000329321.3 + 1 1173 c.704T>G c.(703-705)cTg>cGg p.L235R NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 235 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCGTGGTCCTGCTCTCCGTA 0.612000 15 73 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119603980 119603980 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:119603980G>A ENST00000295206.6 - 1 1274 c.764C>T c.(763-765)tCa>tTa p.S255L NM_001426.3 NP_001417.3 Q05925 HME1_HUMAN engrailed homeobox 1 255 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 GCCGTTGGCTGAGCCCATAAG 0.667000 4 21 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72520236 72520236 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:72520236C>A ENST00000373208.1 + 22 3308 c.3308C>A c.(3307-3309)cCc>cAc p.P1103H ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1100H NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 1100 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GCCTCGGGCcccaaccctggc 0.632000 18 59 1.40151e-16 1.61978e-16 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 7 204 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99171719 99171719 + Missense_Mutation SNP C C A rs17855308 TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr13:99171719C>A ENST00000397517.2 - 2 127 c.51G>T c.(49-51)aaG>aaT p.K17N STK24_ENST00000376547.3_Missense_Mutation_p.K29N|STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Missense_Mutation_p.K17N NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 29 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTGGGTCTGCCTTTAGGTTCT 0.418000 22 61 1.28384e-07 1.39247e-07 1 1 0 PLK2 10769 broad.mit.edu 37 5 57751605 57751605 + Splice_Site SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:57751605G>A ENST00000274289.3 - 11 1686 c.1384_splice c.e11-1 p.C462_splice PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 462 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) TGTCTTCAAGGCCTGAAAAGT 0.423000 18 82 0 0 1 0 0 ZNF302 55900 broad.mit.edu 37 19 35174132 35174132 + Missense_Mutation SNP A A C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:35174132A>C ENST00000505365.2 + 4 539 c.203A>C c.(202-204)aAa>aCa p.K68T ZNF302_ENST00000446502.2_Missense_Mutation_p.K112T|ZNF302_ENST00000423823.2_Missense_Mutation_p.K68T|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000507959.1_Missense_Mutation_p.K69T|ZNF302_ENST00000505242.1_Missense_Mutation_p.K68T|ZNF302_ENST00000457781.2_Missense_Mutation_p.K68T Q9NR11 ZN302_HUMAN zinc finger protein 302 68 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ATGGAGAAAAAACTGTCAAAA 0.373000 3 93 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114254316 114254316 + Missense_Mutation SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:114254316G>C ENST00000357077.4 + 29 3384 c.3331G>C c.(3331-3333)Gac>Cac p.D1111H ANK2_ENST00000264366.6_Missense_Mutation_p.D1078H|ANK2_ENST00000509550.1_Missense_Mutation_p.D287H|ANK2_ENST00000506722.1_Missense_Mutation_p.D1102H|ANK2_ENST00000394537.3_Missense_Mutation_p.D1111H NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1078 Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCATTTCTGTGACTACACTGA 0.443000 22 87 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 52912933 52912933 + Silent SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:52912933T>C ENST00000373980.4 + 2 738 c.321T>C c.(319-321)gaT>gaC p.D107D PRKG1_ENST00000373985.1_Silent_p.D80D|PRKG1_ENST00000401604.2_Silent_p.D92D NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 92 actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GGTCCAAGGATCTTATAAAGG 0.458000 17 97 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208632531 208632531 + Silent SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:208632531G>A ENST00000295417.3 - 2 1486 c.933C>T c.(931-933)ggC>ggT p.G311G NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 311 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) ACAGTGCAGGGCCCGTGGTCT 0.647000 3 17 0 0 1 0 0 MT-ND1 4535 broad.mit.edu 37 MT 3857 3857 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chrM:3857T>C ENST00000361390.2 + 1 551 c.551T>C c.(550-552)aTa>aCa p.184_184insT mitochondrially encoded NADH dehydrogenase 1 breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 CTTGGCCATAATATGATTTAT 0.478000 14 6 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150531134 150531134 + Silent SNP G G A rs12049100 byFrequency TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:150531134G>A ENST00000369041.5 + 15 2818 c.2568G>A c.(2566-2568)ccG>ccA p.P856P ADAMTSL4_ENST00000369039.5_Intron|ADAMTSL4_ENST00000369038.2_Intron|ADAMTSL4_ENST00000271643.4_Intron NM_025008.3 NP_079284.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 856 TSP type-1 4. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AGGTGAGCCCGGAACCCCCAG 0.602000 3 36 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153038 5153038 + Missense_Mutation SNP A A T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr11:5153038A>T ENST00000307388.1 - 1 834 c.835T>A c.(835-837)Ttg>Atg p.L279M NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGATTTGACAAGAGGATATGA 0.398000 20 78 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197707219 197707219 + Missense_Mutation SNP G G A rs138595233 TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:197707219G>A ENST00000330198.4 + 6 594 c.572G>A c.(571-573)gGt>gAt p.G191D LMLN_ENST00000420910.2_Missense_Mutation_p.G191D|LMLN_ENST00000482695.1_Missense_Mutation_p.G139D|LMLN_ENST00000332636.5_Missense_Mutation_p.G139D NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 191 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TACCGTGGGGGTAAGTGGCCT 0.512000 4 152 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138518 101138518 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chrX:101138518C>A ENST00000372782.3 - 7 1928 c.1881G>T c.(1879-1881)gaG>gaT p.E627D ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.E456D|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E627D NM_001011657.3 NP_001011657.2 A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 456 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 AAAGCATTTCCTCTTCTGTCC 0.338000 12 47 2.32078e-09 2.55649e-09 1 1 0 BCL2L1 598 broad.mit.edu 37 20 30309755 30309755 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr20:30309755C>T ENST00000307677.4 - 2 677 c.267G>A c.(265-267)gcG>gcA p.A89A BCL2L1_ENST00000420653.1_Silent_p.A89A|BCL2L1_ENST00000376062.2_Silent_p.A89A|BCL2L1_ENST00000376055.4_Silent_p.A89A NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 89 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CCTCCCTCAGCGCTTGCTTTA 0.622000 22 82 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327864 152327864 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:152327864C>A ENST00000388718.5 - 3 2470 c.2398G>T c.(2398-2400)Ggc>Tgc p.G800C FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 800 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTTGAGCCTGACCCATGT 0.522000 27 341 5.8336e-16 6.6873e-16 1 1 0 OLFML1 283298 broad.mit.edu 37 11 7530992 7530992 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr11:7530992T>G ENST00000329293.3 + 3 1176 c.782T>G c.(781-783)gTt>gGt p.V261G OLFML1_ENST00000530135.1_Missense_Mutation_p.V261G|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 261 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CGAGCATTGGTTTACCAGCAC 0.517000 5 39 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127186089 127186089 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chrX:127186089G>A ENST00000371124.3 - 1 293 c.97C>T c.(97-99)Cat>Tat p.H33Y NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 33 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CTGATGACATGGCGGGGTCCA 0.448000 29 36 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306626 54306626 + Missense_Mutation SNP A A C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr15:54306626A>C ENST00000545554.1 + 1 1526 c.1526A>C c.(1525-1527)aAa>aCa p.K509T UNC13C_ENST00000537900.1_Missense_Mutation_p.K509T|UNC13C_ENST00000260323.11_Missense_Mutation_p.K509T Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 509 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GATTATGATAAAATCTCCTCA 0.388000 14 29 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82439275 82439275 + Missense_Mutation SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr8:82439275C>G ENST00000360464.4 - 3 390 c.328G>C c.(328-330)Gtg>Ctg p.V110L RP11-257P3.3_ENST00000523380.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 110 lipid binding|transporter activity large_intestine(1)|lung(3) 4 TTCCCATCCACCAGCTTTCTC 0.413000 3 25 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10823271 10823271 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:10823271C>T ENST00000250237.5 + 7 838 c.828C>T c.(826-828)gaC>gaT p.D276D NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 276 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) TTGGATGTGACATGTTCGACT 0.642000 65 283 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 111 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13753262 13753262 + Splice_Site SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr20:13753262C>G ENST00000202816.1 - 5 1257 c.e5-1 NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 AAGGATATATCTAAACAGAAA 0.363000 23 62 0 0 1 0 0 GPR18 2841 broad.mit.edu 37 13 99907375 99907375 + Missense_Mutation SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr13:99907375C>G ENST00000340807.3 - 3 1308 c.752G>C c.(751-753)tGt>tCt p.C251S GPR18_ENST00000397473.2_Missense_Mutation_p.C251S|GPR18_ENST00000397470.2_Missense_Mutation_p.C251S|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 251 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) GAAAGCGAAACAGATGTGGAA 0.512000 24 87 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428867 48428867 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:48428867C>T ENST00000224605.2 - 2 1284 c.1019G>A c.(1018-1020)cGc>cAc p.R340H NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 340 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CTTCTTCCTGCGGTCTTTGCG 0.662000 12 59 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6985611 6985611 + Missense_Mutation SNP T T A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr18:6985611T>A ENST00000389658.3 - 38 5504 c.5411A>T c.(5410-5412)aAt>aTt p.N1804I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1804 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGGTCAGATTTTGTTCTTC 0.428000 19 73 0 0 1 0 0 C7orf62 219557 broad.mit.edu 37 7 88424068 88424068 + Missense_Mutation SNP T T A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:88424068T>A ENST00000297203.2 - 2 374 c.189A>T c.(187-189)aaA>aaT p.K63N ZNF804B_ENST00000333190.4_Intron NM_152706.3 NP_689919.1 Q8TBZ9 CG062_HUMAN chromosome 7 open reading frame 62 63 NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 30 CAGCAACATCTTTTCTTTCTA 0.393000 19 39 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27426143 27426143 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:27426143C>T ENST00000310574.3 - 11 1638 c.1165G>A c.(1165-1167)Gag>Aag p.E389K SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Missense_Mutation_p.E389K NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 389 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TCAGAGAACTCAGGGAACCAA 0.478000 16 82 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108322068 108322068 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:108322068G>A ENST00000370056.4 - 3 642 c.368C>T c.(367-369)gCc>gTc p.A123V VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.A58V|VAV3_ENST00000527011.1_Missense_Mutation_p.A123V NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 123 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) GATTCCTGTGGCCAATGCTAT 0.338000 16 34 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488058 24488058 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:24488058G>A ENST00000264463.4 - 12 2588 c.2081C>T c.(2080-2082)aCg>aTg p.T694M CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 694 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T694M(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AATAAATAACGTTTCTGGAAT 0.498000 HNSCC(23;0.051) 7 67 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52520910 52520910 + Silent SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr14:52520910G>A ENST00000216286.5 - 4 896 c.897C>T c.(895-897)tcC>tcT p.S299S NID2_ENST00000541773.1_Silent_p.S246S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 299 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CATGGCTGAAGGAACGTCCCA 0.522000 10 31 0 0 1 0 0 RPP30 10556 broad.mit.edu 37 10 92656112 92656112 + Silent SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:92656112G>A ENST00000413330.1 + 10 695 c.660G>A c.(658-660)gcG>gcA p.A220A RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Silent_p.A220A NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 220 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 CCAAGGCTGCGGTGTCCACCA 0.493000 10 64 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79441545 79441545 + Silent SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr9:79441545T>G ENST00000376718.3 - 5 735 c.612A>C c.(610-612)ccA>ccC p.P204P PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.P204P NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 204 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGTCCTCTCTTGGAGGCAAGT 0.478000 33 49 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43008794 43008794 + Missense_Mutation SNP C C T rs141899283 by1000genomes TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:43008794C>T ENST00000535468.1 - 20 4003 c.3917G>A c.(3916-3918)cGg>cAg p.R1306Q CUL7_ENST00000265348.3_Missense_Mutation_p.R1222Q NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1222 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.R1222Q(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTCAATGTGCCGGGCGAACTG 0.587000 8 48 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175140 143175140 + Nonsense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:143175140C>T ENST00000408916.1 + 1 175 c.175C>T c.(175-177)Cag>Tag p.Q59* EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 59 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CTTCTGCCTGCAGTTGGTTGG 0.567000 21 112 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27844223 27844223 + Missense_Mutation SNP A A T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:27844223A>T ENST00000355467.4 + 14 1682 c.1599A>T c.(1597-1599)gaA>gaT p.E533D ZNF512_ENST00000379717.1_Missense_Mutation_p.E532D|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.E504D|ZNF512_ENST00000413371.2_Missense_Mutation_p.E456D Q96ME7 ZN512_HUMAN zinc finger protein 512 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) ATAATGAGGAACTGGTAGTGT 0.517000 9 37 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351937 36351937 + Splice_Site SNP A A C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:36351937A>C ENST00000360202.5 + 8 1253 c.1056_splice c.e8+1 p.Q352_splice KIRREL2_ENST00000347900.6_Splice_Site_p.Q302_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.Q352_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.Q332_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.Q352_splice|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 352 Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGTGGCGCGCAGGTACAGCCC 0.677000 4 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179529628 179529628 + Silent SNP A A T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:179529628A>T ENST00000589042.1 - 166 36293 c.36069T>A c.(36067-36069)atT>atA p.I12023I TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10169 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTGGCAGGAATAATTTCTT 0.383000 3 9 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348901 54348901 + Missense_Mutation SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:54348901G>T ENST00000243103.3 + 1 284 c.188G>T c.(187-189)gGc>gTc p.G63V NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 63 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 CCGTGCAATGGCTACCCGCAG 0.711000 3 13 0.150653 0.152821 1 1 0 GLI1 2735 broad.mit.edu 37 12 57864972 57864972 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:57864972G>A ENST00000228682.2 + 12 2540 c.2449G>A c.(2449-2451)Gaa>Aaa p.E817K GLI1_ENST00000543426.1_Missense_Mutation_p.E689K|GLI1_ENST00000546141.1_Missense_Mutation_p.E776K NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 817 E -> Q (in a breast cancer sample; somatic mutation). epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.E817Q(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AGTCAAGCCAGAACAGGGGTG 0.602000 16 81 0 0 1 0 0 LTBP3 4054 broad.mit.edu 37 11 65321675 65321675 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr11:65321675G>A ENST00000301873.5 - 2 776 c.508C>T c.(508-510)Ccg>Tcg p.P170S LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P170S NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 170 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCCAGGGGCGGCAGCGCCCCT 0.746000 3 25 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131546065 131546065 + Silent SNP T T A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:131546065T>A ENST00000401867.1 - 7 1189 c.621A>T c.(619-621)tcA>tcT p.S207S P4HA2_ENST00000360568.3_Silent_p.S207S|P4HA2_ENST00000379100.2_Silent_p.S207S|P4HA2_ENST00000379104.2_Silent_p.S207S|P4HA2_ENST00000166534.4_Silent_p.S207S|P4HA2_ENST00000379086.1_Silent_p.S207S O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 207 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CCAGCACCTGTGACTTGGTTG 0.572000 32 119 0 0 1 0 0 LDLRAD1 388633 broad.mit.edu 37 1 54483100 54483100 + Splice_Site SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:54483100C>T ENST00000371360.1 - 2 39 c.21_splice c.e2-1 p.G8_splice LDLRAD1_ENST00000371362.3_Splice_Site_p.G8_splice|LDLRAD1_ENST00000545928.1_Splice_Site_p.G8_splice|LDLRAD1_ENST00000420619.1_Intron NM_001010978.2 NP_001010978.2 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain containing 1 8 integral to membrane receptor activity large_intestine(3)|prostate(1)|skin(3) 7 CCATTCTCTCCCTGCCCAAGA 0.592000 3 10 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 3 16 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6241433 6241433 + Missense_Mutation SNP T T A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr18:6241433T>A ENST00000400104.3 - 8 676 c.476A>T c.(475-477)aAa>aTa p.K159I L3MBTL4_ENST00000284898.6_Missense_Mutation_p.K159I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.K159I|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.K159I Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 159 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CCAAACAAATTTATCTTTTCT 0.313000 16 84 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110587637 110587637 + Missense_Mutation SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr8:110587637G>C ENST00000399066.3 - 6 2208 c.1481C>G c.(1480-1482)cCa>cGa p.P494R SYBU_ENST00000433638.1_Missense_Mutation_p.P497R|SYBU_ENST00000422135.1_Missense_Mutation_p.P497R|SYBU_ENST00000533171.1_Missense_Mutation_p.P497R|SYBU_ENST00000529175.1_Missense_Mutation_p.P291R|SYBU_ENST00000529690.1_Missense_Mutation_p.P367R|SYBU_ENST00000528331.1_Missense_Mutation_p.P378R|SYBU_ENST00000533065.1_Missense_Mutation_p.P378R|SYBU_ENST00000528647.1_Missense_Mutation_p.P496R|SYBU_ENST00000276646.9_Missense_Mutation_p.P497R|SYBU_ENST00000532779.1_Missense_Mutation_p.P429R|SYBU_ENST00000419099.1_Missense_Mutation_p.P496R|SYBU_ENST00000446070.2_Missense_Mutation_p.P496R|SYBU_ENST00000440310.1_Missense_Mutation_p.P497R|SYBU_ENST00000408889.3_Missense_Mutation_p.P378R|SYBU_ENST00000424158.2_Missense_Mutation_p.P502R|SYBU_ENST00000408908.2_Missense_Mutation_p.P497R|SYBU_ENST00000533895.1_Missense_Mutation_p.P496R NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 497 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 TGAGATGGCTGGGCTGTAGGG 0.617000 10 55 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156280403 156280403 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:156280403C>T ENST00000295688.3 - 13 1759 c.1479G>A c.(1477-1479)ctG>ctA p.L493L CCT3_ENST00000368261.3_Silent_p.L448L|CCT3_ENST00000368259.2_Silent_p.L455L|CCT3_ENST00000472765.2_Silent_p.L448L NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 493 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) CCCATATGCCCAGTTCCTTCA 0.458000 12 25 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51863545 51863545 + Silent SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:51863545G>T ENST00000453097.2 + 12 1714 c.1497G>T c.(1495-1497)ctG>ctT p.L499L SLC4A8_ENST00000535225.2_Silent_p.L446L|SLC4A8_ENST00000394856.1_Silent_p.L446L|SLC4A8_ENST00000358657.3_Silent_p.L526L|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000514353.3_Silent_p.L446L NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 499 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TTGGGGGACTGCTTGGAGAAG 0.498000 31 131 9.04072e-19 1.06228e-18 1 1 0 SNAPC4 6621 broad.mit.edu 37 9 139275266 139275266 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr9:139275266C>A ENST00000298532.2 - 19 2793 c.2425G>T c.(2425-2427)Gtc>Ttc p.V809F NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 809 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.V809I(1) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CTCTCTCGGACGACCTCCAAG 0.622000 3 80 0.184627 0.185946 1 1 0 LMO7 4008 broad.mit.edu 37 13 76395684 76395684 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr13:76395684T>G ENST00000357063.3 + 15 3995 c.2735T>G c.(2734-2736)gTc>gGc p.V912G LMO7_ENST00000465261.2_Missense_Mutation_p.V627G|LMO7_ENST00000341547.4_Missense_Mutation_p.V578G|LMO7_ENST00000526202.1_Missense_Mutation_p.V477G|LMO7_ENST00000377534.3_Missense_Mutation_p.V912G|LMO7_ENST00000321797.8_Missense_Mutation_p.V627G Q8WWI1 LMO7_HUMAN LIM domain 7 912 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ACATCTGTGGTCACACCAAGA 0.458000 11 21 0 0 1 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13493 13493 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chrM:13493T>C ENST00000361567.2 + 1 1157 c.1157T>C c.(1156-1158)cTc>cCc p.L386P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 386 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AATACCTTTCCTCACAGGTTT 0.448000 21 13 0 0 1 0 0 TAAR1 134864 broad.mit.edu 37 6 132967043 132967043 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:132967043T>C ENST00000275216.1 - 1 99 c.100A>G c.(100-102)Att>Gtt p.I34V NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 34 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) GTGGTCAGAATTATGAGCACC 0.383000 7 267 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131306394 131306394 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:131306394C>A ENST00000512055.1 - 12 2840 c.714G>T c.(712-714)aaG>aaT p.K238N CPNE4_ENST00000511604.1_Missense_Mutation_p.K238N|CPNE4_ENST00000429747.1_Missense_Mutation_p.K238N|CPNE4_ENST00000502818.1_Missense_Mutation_p.K256N|CPNE4_ENST00000512332.1_Missense_Mutation_p.K256N Q96A23 CPNE4_HUMAN copine IV 238 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TGAAGTCATGCTTGCCATTGG 0.428000 4 103 0.0215528 0.022182 1 1 0 RECQL5 9400 broad.mit.edu 37 17 73627675 73627675 + Missense_Mutation SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr17:73627675G>T ENST00000317905.5 - 9 1462 c.1303C>A c.(1303-1305)Cag>Aag p.Q435K RECQL5_ENST00000423245.2_Missense_Mutation_p.Q408K|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 435 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GTGGGGTTCTGGCAGTGGTCG 0.687000 Other identified genes with known or suspected DNA repair function 13 72 4.93089e-13 5.47445e-13 1 1 0 TCF7L1 83439 broad.mit.edu 37 2 85531118 85531118 + Silent SNP A A C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:85531118A>C ENST00000282111.3 + 6 1034 c.759A>C c.(757-759)ccA>ccC p.P253P NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 253 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 GGCTCGTCCCACAGTAAGGAA 0.667000 26 81 0 0 1 0 0 TRIM63 84676 broad.mit.edu 37 1 26392855 26392855 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:26392855C>T ENST00000374272.3 - 2 374 c.236G>A c.(235-237)cGc>cAc p.R79H TRIM63_ENST00000483052.1_5'UTR NM_032588.3 NP_115977.2 Q969Q1 TRI63_HUMAN tripartite motif containing 63, E3 ubiquitin protein ligase 79 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CACCTCGTGGCGGCAGGTGGG 0.602000 13 45 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138635035 138635035 + Missense_Mutation SNP A A G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:138635035A>G ENST00000251691.4 + 26 4470 c.4304A>G c.(4303-4305)gAt>gGt p.D1435G NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1435 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGCAGTGAGGATGGAATTGAA 0.438000 8 30 0 0 1 0 0 FAM114A2 10827 broad.mit.edu 37 5 153382414 153382414 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:153382414G>A ENST00000351797.4 - 10 1185 c.1109C>T c.(1108-1110)tCa>tTa p.S370L FAM114A2_ENST00000520667.1_Missense_Mutation_p.S370L|FAM114A2_ENST00000520313.1_Missense_Mutation_p.S300L|FAM114A2_ENST00000522858.1_Missense_Mutation_p.S370L NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 370 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 TACCTCTATTGAATTTTTGTT 0.403000 29 184 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39127875 39127875 + Nonsense_Mutation SNP A A C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:39127875A>C ENST00000351578.6 - 11 2065 c.1875T>G c.(1873-1875)taT>taG p.Y625* FYB_ENST00000515010.1_Nonsense_Mutation_p.Y625*|FYB_ENST00000505428.1_Nonsense_Mutation_p.Y625*|FYB_ENST00000540520.1_Nonsense_Mutation_p.Y635*|FYB_ENST00000512982.1_Nonsense_Mutation_p.Y625* NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 625 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) CAATCCCATCATAAATGTCAT 0.338000 8 46 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113652451 113652451 + Missense_Mutation SNP G G A rs148051584 by1000genomes TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:113652451G>A ENST00000358160.4 + 12 1795 c.1303G>A c.(1303-1305)Gtg>Atg p.V435M GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.V268M|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.V164M|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.V230M NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 435 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CTTCTATACCGTGAACAGATA 0.408000 4 153 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170531188 170531188 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:170531188T>C ENST00000447353.1 - 4 665 c.560A>G c.(559-561)gAa>gGa p.E187G NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 TTTCAACTGTTCCTCCCATTT 0.358000 7 9 0 0 1 0 0 OR6B1 135946 broad.mit.edu 37 7 143701254 143701254 + Silent SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:143701254G>T ENST00000408922.2 + 1 233 c.165G>T c.(163-165)ctG>ctT p.L55L NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) ATCGGCCACTGCACAAGCCTA 0.473000 18 35 5.35267e-07 5.71762e-07 1 1 0 PLEKHH3 79990 broad.mit.edu 37 17 40820225 40820225 + Missense_Mutation SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr17:40820225C>G ENST00000293349.6 - 13 2723 c.2293G>C c.(2293-2295)Gac>Cac p.D765H PLEKHH3_ENST00000412503.1_Missense_Mutation_p.D591H|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.D768H Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 768 signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GGGGAGGTGTCTGGCAGGTCT 0.647000 8 19 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586010 7586010 + Silent SNP A A G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:7586010A>G ENST00000313599.3 - 3 462 c.405T>C c.(403-405)caT>caC p.H135H CD163L1_ENST00000396630.1_Silent_p.H135H|CD163L1_ENST00000416109.2_Silent_p.H135H Q9NR16 C163B_HUMAN CD163 molecule-like 1 135 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GATAACAGTTATGGCTTCCCC 0.443000 33 126 0 0 1 0 0 DESI2 51029 broad.mit.edu 37 1 244852580 244852580 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:244852580T>C ENST00000302550.11 + 3 524 c.145T>C c.(145-147)Ttt>Ctt p.F49L DESI2_ENST00000263831.7_Intron NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 49 PPPDE peptidase. TCCTTACCCCTTTTCTGGAAT 0.313000 4 188 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16900066 16900066 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:16900066C>T ENST00000502640.1 - 1 191 c.43G>A c.(43-45)Ggc>Agc p.G15S LDB2_ENST00000441778.2_Missense_Mutation_p.G15S|LDB2_ENST00000515064.1_Missense_Mutation_p.G15S|LDB2_ENST00000304523.5_Missense_Mutation_p.G15S O43679 LDB2_HUMAN LIM domain binding 2 15 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TAAAATGGGCCGAAAGGAGAA 0.458000 14 48 0 0 1 0 0 MLX 6945 broad.mit.edu 37 17 40722187 40722187 + Missense_Mutation SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr17:40722187C>G ENST00000246912.4 + 7 879 c.826C>G c.(826-828)Cac>Gac p.H276D MLX_ENST00000435881.2_Missense_Mutation_p.H222D|MLX_ENST00000346833.4_Missense_Mutation_p.H192D NM_170607.2 NP_733752.1 Q9UH92 MLX_HUMAN MLX, MAX dimerization protein 276 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1) 10 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) GATCGAGGAGCACTGTAAGCC 0.532000 10 41 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61602110 61602110 + Missense_Mutation SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr18:61602110G>C ENST00000238508.3 + 8 887 c.828G>C c.(826-828)tgG>tgC p.W276C AC009802.1_ENST00000599868.1_Intron NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TGAATGAGTGGACCAGTGCAG 0.443000 15 64 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122873884 122873884 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:122873884G>A ENST00000316218.7 + 15 1435 c.1340G>A c.(1339-1341)cGa>cAa p.R447Q PDIA5_ENST00000467157.1_3'UTR NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 447 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) AAAGATGACCGAAAGGTAAGG 0.512000 4 143 0 0 1 0 0 MARS 4141 broad.mit.edu 37 12 57905595 57905595 + Missense_Mutation SNP A A G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:57905595A>G ENST00000262027.5 + 12 1617 c.1483A>G c.(1483-1485)Ata>Gta p.I495V MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.I261V NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 495 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GCCACGCTGCATAACCCGAGA 0.498000 9 30 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 4 79 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169781240 169781240 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:169781240C>T ENST00000263817.6 - 27 3816 c.3692G>A c.(3691-3693)cGg>cAg p.R1231Q NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1231 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TACAATGGCCCGAGCAATAGC 0.403000 22 68 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192517350 192517350 + Missense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:192517350C>A ENST00000392452.2 - 2 621 c.301G>T c.(301-303)Gac>Tac p.D101Y NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 101 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TCATCTAAGTCCAGGTCCACC 0.502000 12 62 2.27111e-07 2.44448e-07 1 1 0 CCM2 83605 broad.mit.edu 37 7 45104153 45104153 + Missense_Mutation SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:45104153G>A ENST00000381112.3 + 4 1122 c.443G>A c.(442-444)gGg>gAg p.G148E CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000258781.6_Missense_Mutation_p.G127E|CCM2_ENST00000541586.1_Missense_Mutation_p.G69E|CCM2_ENST00000474617.1_Missense_Mutation_p.G121E|CCM2_ENST00000544363.1_Missense_Mutation_p.G127E|CCM2_ENST00000475551.1_Missense_Mutation_p.G121E NM_001029835.2 NP_001025006.1 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 127 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TGGAGGGACGGGGAGGATATC 0.597000 15 35 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53190039 53190039 + Missense_Mutation SNP A A G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr16:53190039A>G ENST00000566029.1 + 2 247 c.38A>G c.(37-39)aAt>aGt p.N13S CHD9_ENST00000398510.3_Missense_Mutation_p.N13S|CHD9_ENST00000564845.1_Missense_Mutation_p.N13S|CHD9_ENST00000447540.1_Missense_Mutation_p.N13S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 13 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GATGATGCCAATCTTTTTGGT 0.378000 5 36 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811893 32811893 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr13:32811893C>T ENST00000380250.3 + 44 6684 c.6188C>T c.(6187-6189)gCc>gTc p.A2063V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2063 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TACTTAATGGCCTTAAGGCTG 0.502000 17 28 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344313 248344313 + Missense_Mutation SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:248344313G>C ENST00000359682.2 + 1 1026 c.1026G>C c.(1024-1026)ttG>ttC p.L342F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 342 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TACTAGCATTGATTATGTACA 0.274000 50 106 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115335696 115335696 + Nonsense_Mutation SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:115335696C>A ENST00000351270.3 + 4 360 c.264C>A c.(262-264)tgC>tgA p.C88* HABP2_ENST00000537906.1_Missense_Mutation_p.A77D|HABP2_ENST00000542051.1_Nonsense_Mutation_p.C62*|HABP2_ENST00000541666.1_Nonsense_Mutation_p.C88* NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 88 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GTGGGGACTGCCTCGTCCATG 0.557000 75 230 1.40862e-40 1.69757e-40 1 1 0 SNRPG 6637 broad.mit.edu 37 2 70516505 70516505 + Splice_Site SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:70516505C>G ENST00000482975.2 - 2 764 c.e2-1 SNRPG_ENST00000272348.2_Splice_Site|SNRPG_ENST00000449935.2_Splice_Site|SNRPG_ENST00000438261.1_Splice_Site|SNRPG_ENST00000413456.2_Splice_Site|SNRPG_ENST00000454893.1_Splice_Site|SNRPG_ENST00000429728.1_Intron P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 GTCCATAAATCTGAAAAAGGA 0.244000 2 5 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273310 145273310 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:145273310C>T ENST00000369340.3 + 4 608 c.164C>T c.(163-165)tCa>tTa p.S55L NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.S55L|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.S55L|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.S55L Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 55 EGF-like 2. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 CGATGTGCCTCAGGGTTTACA 0.562000 27 493 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85863200 85863200 + Missense_Mutation SNP T T C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr9:85863200T>C ENST00000304195.3 - 14 1633 c.1427A>G c.(1426-1428)gAa>gGa p.E476G FRMD3_ENST00000328788.1_Missense_Mutation_p.E133G|FRMD3_ENST00000376434.1_Missense_Mutation_p.E282G|FRMD3_ENST00000376438.1_Missense_Mutation_p.E476G|FRMD3_ENST00000465485.1_5'UTR NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 476 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GTCTTCTCTTTCCAACTCAAG 0.493000 51 113 0 0 1 0 0 PTX3 5806 broad.mit.edu 37 3 157155312 157155312 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr3:157155312C>T ENST00000295927.3 + 2 286 c.141C>T c.(139-141)tgC>tgT p.C47C VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 47 inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CCACGCCGTGCGCCTGCGGTC 0.602000 3 29 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32170178 32170178 + Missense_Mutation SNP C C G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:32170178C>G ENST00000375023.3 - 21 3568 c.3430G>C c.(3430-3432)Ggc>Cgc p.G1144R NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1144 EGF-like 29. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GAGCAGCTGCCATTGTATAGG 0.657000 4 19 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140300008 140300008 + Splice_Site SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:140300008G>C ENST00000296543.5 + 17 2478 c.2155_splice c.e17+1 p.A719_splice NAA15_ENST00000398947.1_Splice_Site_p.V719_splice NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 719 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CTTTAATACTGGTATGTTTTT 0.333000 14 61 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140300009 140300009 + Splice_Site SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:140300009G>T ENST00000296543.5 + 17 2478 c.e17+1 NAA15_ENST00000398947.1_Splice_Site NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TTTAATACTGGTATGTTTTTG 0.338000 14 60 2.37509e-13 2.65784e-13 1 1 0 LYST 1130 broad.mit.edu 37 1 235840796 235840796 + Missense_Mutation SNP T T G TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:235840796T>G ENST00000389794.3 - 49 11098 c.10924A>C c.(10924-10926)Ata>Cta p.I3642L LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I3642L Q99698 LYST_HUMAN lysosomal trafficking regulator 3642 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAATCCCATATGATGCAGGTT 0.328000 13 136 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34514436 34514436 + Silent SNP C C A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr9:34514436C>A ENST00000242317.4 + 17 1785 c.1614C>A c.(1612-1614)gcC>gcA p.A538A NM_012144.2 NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 538 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CCTATGACGCCCACAACATGT 0.552000 Kartagener syndrome 43 123 3.19069e-20 3.78056e-20 1 1 0 PPP1R14C 81706 broad.mit.edu 37 6 150569944 150569944 + Silent SNP G G A TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:150569944G>A ENST00000361131.4 + 4 603 c.486G>A c.(484-486)aaG>aaA p.K162K NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 162 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) CTCCGCAGAAGAAGAGTGTAT 0.423000 9 36 0 0 1 0 0 SPPL2A 84888 broad.mit.edu 37 15 51041856 51041856 + Missense_Mutation SNP G G C TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr15:51041856G>C ENST00000261854.5 - 2 428 c.154C>G c.(154-156)Ctt>Gtt p.L52V RP11-507J18.2_ENST00000558317.1_RNA NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 52 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) GTACTTGGAAGAGCTGTCCAA 0.443000 41 137 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579373 7579373 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr17:7579373C>T ENST00000420246.2 - 4 446 c.314G>A c.(313-315)gGc>gAc p.G105D TP53_ENST00000455263.2_Missense_Mutation_p.G105D|TP53_ENST00000269305.4_Missense_Mutation_p.G105D|TP53_ENST00000413465.2_Missense_Mutation_p.G105D|TP53_ENST00000445888.2_Missense_Mutation_p.G105D|TP53_ENST00000359597.4_Missense_Mutation_p.G105D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 105 Interaction with HIPK1 (By similarity).|Interaction with WWOX. G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G105D(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105A(1)|p.G105V(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACCGTAGCTGCCCTGGTAGGT 0.622000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 45 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45188667 45188667 + Silent SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr20:45188667G>T ENST00000279027.4 - 13 1821 c.1803C>A c.(1801-1803)acC>acA p.T601T SLC13A3_ENST00000472148.1_Silent_p.T519T|SLC13A3_ENST00000495082.1_Silent_p.T554T|SLC13A3_ENST00000435032.1_Silent_p.T186T|SLC13A3_ENST00000413164.2_Silent_p.T551T|SLC13A3_ENST00000290317.5_Silent_p.T554T|SLC13A3_ENST00000396360.1_Silent_p.T519T NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 601 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GGACTCAGAGGGTCCGAAATG 0.527000 20 84 6.21321e-17 7.24019e-17 1 1 0 RUNX1T1 862 broad.mit.edu 37 8 92988173 92988173 + Silent SNP A A T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr8:92988173A>T ENST00000523629.1 - 10 1762 c.1308T>A c.(1306-1308)ccT>ccA p.P436P RUNX1T1_ENST00000422361.2_Silent_p.P399P|RUNX1T1_ENST00000265814.3_Silent_p.P436P|RUNX1T1_ENST00000518844.1_Silent_p.P409P|RUNX1T1_ENST00000360348.2_Silent_p.P399P|RUNX1T1_ENST00000436581.2_Silent_p.P447P|RUNX1T1_ENST00000396218.1_Silent_p.P409P|RUNX1T1_ENST00000520724.1_Silent_p.P399P|GS1-5L10.1_ENST00000522980.1_RNA NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 436 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) ATCCAGACGCAGGCCTGTGAA 0.488000 32 155 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 175995996 175995996 + Silent SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:175995996C>T ENST00000510636.1 + 5 574 c.300C>T c.(298-300)agC>agT p.S100S CDHR2_ENST00000261944.5_Silent_p.S100S|CDHR2_ENST00000506348.1_Silent_p.S100S NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 100 Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCTCCGTGAGCGACCCCTACA 0.632000 15 127 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51217526 51217526 + Missense_Mutation SNP C C T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr19:51217526C>T ENST00000293441.1 - 4 571 c.553G>A c.(553-555)Gag>Aag p.E185K SHANK1_ENST00000391814.1_Missense_Mutation_p.E185K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E185K NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 185 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TGCACATACTCCAGGAACTTC 0.592000 12 43 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186680101 186680101 + Nonsense_Mutation SNP G G T TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr2:186680101G>T ENST00000343098.5 + 19 20596 c.20596G>T c.(20596-20598)Gaa>Taa p.E6866* FSIP2_ENST00000424728.1_Nonsense_Mutation_p.E6777* NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTTCCAGAAAGAAGAAAAGAA 0.318000 8 37 0.0477658 0.0488041 1 1 0 RPTN 126638 broad.mit.edu 37 1 152127881 152127884 + Frame_Shift_Del DEL TGTC TGTC - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr1:152127881_152127884delTGTC ENST00000316073.3 - 3 1755_1758 c.1691_1694delGACA c.(1690-1695)aafs p.RQ564fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 564 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 GCTCTGGCCTTGTCTGTCTGTCTG 0.485 7 1247 --- --- --- --- C4orf21 55345 broad.mit.edu 37 4 113527178 113527178 + Frame_Shift_Del DEL T T - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr4:113527178delT ENST00000505019.1 - 9 2913 c.2788delA c.(2788-2790)ccfs p.T930fs C4orf21_ENST00000309071.5_Frame_Shift_Del_p.T930fs NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 930 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GGGTCACAGGTTTTTCTCTCT 0.299 39 110 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 9 175 --- --- --- --- FYN 2534 broad.mit.edu 37 6 111983042 111983042 + Frame_Shift_Del DEL T T - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr6:111983042delT ENST00000354650.3 - 14 2120 c.1514delA c.(1513-1515)agfs p.K505fs FYN_ENST00000229471.4_Frame_Shift_Del_p.K450fs|FYN_ENST00000368678.4_Frame_Shift_Del_p.K502fs|FYN_ENST00000229470.5_Frame_Shift_Del_p.K453fs|FYN_ENST00000356013.2_Frame_Shift_Del_p.K450fs|FYN_ENST00000368667.2_Frame_Shift_Del_p.K505fs|FYN_ENST00000368682.3_Frame_Shift_Del_p.K502fs|FYN_ENST00000538466.1_Frame_Shift_Del_p.K502fs NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 505 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAGGGTCCTTTTTCCAGCA 0.562 8 298 --- --- --- --- LRRC17 10234 broad.mit.edu 37 7 102585036 102585036 + Frame_Shift_Del DEL A A - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:102585036delA ENST00000339431.4 + 4 1603 c.1308delA c.(1306-1308)atfs p.I437fs FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000485478.1_3'UTR NM_001031692.2 NP_001026862.1 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 437 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAAGCGTAATAATTACTATAG 0.318 13 35 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 8 259 --- --- --- --- CTD-2281E23.3 0 broad.mit.edu 37 8 1197216 1197217 + RNA INS - - G rs66848317 by1000genomes TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr8:1197216_1197217insG ENST00000517950.1 - 0 278 GAGATCAGTGTGGAGTGATGGT 0.584 2 4 --- --- --- --- ZNF365 22891 broad.mit.edu 37 10 64136459 64136464 + In_Frame_Del DEL TGAGGC TGAGGC - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr10:64136459_64136464delTGAGGC ENST00000395254.3 + 2 787_792 c.507_512delTGAGGC c.(505-513)gtt>gt p.VEA169del ZNF365_ENST00000410046.3_In_Frame_Del_p.VEA169del|ZNF365_ENST00000395255.3_In_Frame_Del_p.VEA169del|ZNF365_ENST00000466727.1_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) ATCGAATGGTTGAGGCTGTGGATAGG 0.505 30 135 --- --- --- --- IGHMBP2 3508 broad.mit.edu 37 11 68703838 68703851 + Frame_Shift_Del DEL CACACAGCATGGGG CACACAGCATGGGG - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr11:68703838_68703851delCACACAGCATGGGG ENST00000255078.3 + 13 2001_2014 c.1890_1903delCACACAGCATGGGG c.(1888-1905)ttaafs p.FTQHGE630fs NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 630 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding p.G634V(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGGAGTATTTCACACAGCATGGGGAAGTACGCAC 0.551 27 353 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 8 60 --- --- --- --- GPR18 2841 broad.mit.edu 37 13 99907848 99907848 + Frame_Shift_Del DEL G G - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr13:99907848delG ENST00000340807.3 - 3 835 c.279delC c.(277-279)ttfs p.F93fs GPR18_ENST00000397470.2_Frame_Shift_Del_p.F93fs|GPR18_ENST00000397473.2_Frame_Shift_Del_p.F93fs|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 93 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) GAATCTGGCAGAAGTACTCTC 0.388 20 52 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42731878 42731878 + Frame_Shift_Del DEL T T - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr15:42731878delT ENST00000263805.4 - 8 4154 c.3828delA c.(3826-3828)agfs p.R1276fs ZNF106_ENST00000565611.1_Frame_Shift_Del_p.R461fs|ZNF106_ENST00000565380.1_Frame_Shift_Del_p.R504fs NM_022473.1 NP_071918.1 zinc finger protein 106 GAGAGTTTTCTCTGTTTCTGG 0.438 34 72 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603930 66603930 + Frame_Shift_Del DEL T T - TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr16:66603930delT ENST00000379500.2 + 2 591 c.524delT c.(523-525)gtfs p.V175fs CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Del_p.V58fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Del_p.V58fs|CMTM1_ENST00000328020.6_Frame_Shift_Del_p.V175fs|CMTM1_ENST00000535705.1_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) TGCATTGTCGTTTTTTTTATT 0.348 7 213 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-95-8039-01A-11D-2238-08 TCGA-95-8039-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx d08a0721-236a-4176-9ae3-86cc5135f20a 3bf683f1-e3ba-443a-9dbf-43718d4fca4e g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 2 4 --- --- --- ---