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 BPIFB4 149954 broad.mit.edu 37 20 31671236 31671236 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr20:31671236G>A ENST00000375483.3 + 3 233 c.233G>A c.(232-234)gGc>gAc p.G78D NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 78 cytoplasm|extracellular region lipid binding TATACCAACGGCAAAAAACTT 0.478000 4 219 0 0 1 0 0 RP11-480I12.7 0 broad.mit.edu 37 1 202843376 202843376 + RNA SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr1:202843376C>T ENST00000456105.2 + 0 1328 NR_002929.2 CCATCCTGGCCGCCTTCCAGC 0.537000 10 27 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79682550 79682550 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr17:79682550C>T ENST00000331531.5 + 3 376 c.256C>T c.(256-258)Cgg>Tgg p.R86W SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 86 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CGAGACTGTGCGGGACCGTGT 0.697000 5 363 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46231301 46231301 + Missense_Mutation SNP C C A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr12:46231301C>A ENST00000334344.6 + 10 1313 c.1141C>A c.(1141-1143)Ctt>Att p.L381I ARID2_ENST00000422737.1_Missense_Mutation_p.L232I|ARID2_ENST00000444670.1_Missense_Mutation_p.L10I|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 381 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTGGGAAATCTTTGCAAAGC 0.323000 """N, S, F""" hepatocellular carcinoma 28 162 6.32553e-13 7.19374e-13 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22368774 22368774 + Missense_Mutation SNP G G T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr15:22368774G>T ENST00000332663.2 + 1 297 c.199G>T c.(199-201)Gcc>Tcc p.A67S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GGCTAATCTGGCCTTCCTTGA 0.408000 13 1428 0.000274275 0.000279087 1 1 0 GLDN 342035 broad.mit.edu 37 15 51689743 51689743 + Silent SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr15:51689743C>T ENST00000335449.6 + 6 821 c.765C>T c.(763-765)agC>agT p.S255S GLDN_ENST00000396399.2_Silent_p.S131S NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 255 Pro-rich. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) CCCCTGGAAGCAGAAGAGCCA 0.637000 20 53 0 0 1 0 0 KNOP1 400506 broad.mit.edu 37 16 19718262 19718262 + Silent SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr16:19718262G>A ENST00000219837.7 - 5 1425 c.1347C>T c.(1345-1347)aaC>aaT p.N449N KNOP1_ENST00000568230.1_Silent_p.N128N|AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 ACTTGGAAGCGTTCCTGTCAA 0.507000 141 271 0 0 1 0 0 RRH 10692 broad.mit.edu 37 4 110754331 110754331 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr4:110754331G>A ENST00000317735.4 + 2 177 c.143G>A c.(142-144)gGc>gAc p.G48D NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 48 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) ATAGTTCTGGGCATCTTCATT 0.353000 12 142 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122287626 122287626 + Silent SNP A A G TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr3:122287626A>G ENST00000296161.4 + 3 879 c.690A>G c.(688-690)gaA>gaG p.E230E DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 230 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) CCAAGGCAGAACAAAAAAGCA 0.383000 37 66 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122606 12122606 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr6:12122606C>T ENST00000379388.2 + 4 2910 c.2578C>T c.(2578-2580)Cca>Tca p.P860S NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 860 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCCTCCTCATCCACTAAGAGG 0.448000 50 208 0 0 1 0 0 SLC26A6 65010 broad.mit.edu 37 3 48669775 48669775 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr3:48669775G>A ENST00000358747.6 - 4 675 c.425C>T c.(424-426)cCg>cTg p.P142L SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000395550.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P163L|SLC26A6_ENST00000455886.2_Intron NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CAAGGCCTGCGGGGCCAGGGA 0.597000 21 46 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101947178 101947178 + Silent SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr4:101947178G>A ENST00000394854.3 - 14 2093 c.1410C>T c.(1408-1410)ttC>ttT p.F470F PPP3CA_ENST00000507176.1_Silent_p.F372F|PPP3CA_ENST00000512215.1_Silent_p.F238F|PPP3CA_ENST00000394853.4_Silent_p.F460F|PPP3CA_ENST00000323055.6_Silent_p.F418F|PPP3CA_ENST00000523694.2_Silent_p.F403F NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 470 Inhibitory domain. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TGGCTTCCTCGAAGCTAGTGA 0.438000 4 199 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136899859 136899859 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr9:136899859C>T ENST00000303407.7 - 11 2214 c.2029G>A c.(2029-2031)Ggg>Agg p.G677R BRD3_ENST00000473349.1_5'UTR NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 677 Ser-rich. nucleus protein binding p.G677R(2) BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) CTCAGCTGCCCGCTGACATCC 0.617000 T C15orf55 lethal midline carcinoma of young people 4 232 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70714217 70714217 + RNA SNP C C A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr14:70714217C>A ENST00000530196.1 - 0 301 NR_003951.1 AGCCTTTGCACTTCTGCCCCT 0.502000 41 100 4.17593e-13 4.84408e-13 1 1 0 ANK3 288 broad.mit.edu 37 10 61958141 61958141 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr10:61958141G>A ENST00000280772.1 - 14 1837 c.1646C>T c.(1645-1647)gCg>gTg p.A549V ANK3_ENST00000373827.2_Missense_Mutation_p.A543V|ANK3_ENST00000503366.1_Missense_Mutation_p.A532V NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 549 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CAAAAGGAACGCGGCCACATC 0.502000 19 127 0 0 1 0 0 TMEM203 94107 broad.mit.edu 37 9 140099751 140099751 + Missense_Mutation SNP C C G TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr9:140099751C>G ENST00000343666.5 - 1 339 c.116G>C c.(115-117)gGc>gCc p.G39A TMEM203_ENST00000537254.1_Missense_Mutation_p.G39A NM_053045.1 NP_444273.1 Q969S6 TM203_HUMAN transmembrane protein 203 39 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CGGGACCAGGCCATCCACACG 0.632000 9 19 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152282 49152282 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr3:49152282G>A ENST00000453664.1 - 15 2488 c.2170C>T c.(2170-2172)Cgg>Tgg p.R724W USP19_ENST00000417901.1_Missense_Mutation_p.R736W|USP19_ENST00000398888.2_Missense_Mutation_p.R633W|USP19_ENST00000398892.3_Missense_Mutation_p.R673W|USP19_ENST00000398896.1_Missense_Mutation_p.R441W|USP19_ENST00000398898.2_Missense_Mutation_p.R673W|USP19_ENST00000434032.2_Missense_Mutation_p.R734W NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 633 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCTTGTGCCGCTGCCATGCT 0.562000 4 100 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11418859 11418859 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr8:11418859G>A ENST00000259089.4 + 11 1670 c.1078G>A c.(1078-1080)Gac>Aac p.D360N BLK_ENST00000529894.1_Missense_Mutation_p.D289N NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 360 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CATCCACCGCGACCTGCGGGC 0.557000 16 33 0 0 1 0 0 SLC38A8 146167 broad.mit.edu 37 16 84050239 84050239 + Silent SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr16:84050239C>T ENST00000299709.3 - 8 1046 c.1047G>A c.(1045-1047)ccG>ccA p.P349P NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 349 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GGATGGTCAGCGGCATCCGGA 0.637000 31 59 0 0 1 0 0 BACE2 25825 broad.mit.edu 37 21 42613772 42613772 + Silent SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr21:42613772C>T ENST00000330333.6 + 4 1108 c.645C>T c.(643-645)ttC>ttT p.F215F BACE2_ENST00000328735.6_Silent_p.F215F|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Silent_p.F215F NM_012105.3 NP_036237.2 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 215 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) AGACCTTCTTCGACTCCCTGG 0.582000 69 139 0 0 1 0 0 RSPO3 84870 broad.mit.edu 37 6 127471594 127471594 + Missense_Mutation SNP T T A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr6:127471594T>A ENST00000356698.4 + 3 902 c.313T>A c.(313-315)Tgt>Agt p.C105S RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Missense_Mutation_p.C105S NM_032784.3 NP_116173.2 Q9BXY4 RSPO3_HUMAN R-spondin 3 105 extracellular region heparin binding PTPRK/RSPO3(10) breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 GBM - Glioblastoma multiforme(226;0.0555) CTGTGATACCTGTTTCAACAA 0.373000 40 86 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15300421 15300421 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr3:15300421C>T ENST00000383791.3 - 7 1026 c.806G>A c.(805-807)cGg>cAg p.R269Q SH3BP5_ENST00000253688.5_Missense_Mutation_p.R112Q|SH3BP5_ENST00000426925.1_Missense_Mutation_p.R112Q|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5_ENST00000408919.3_Missense_Mutation_p.R112Q|SH3BP5-AS1_ENST00000436602.1_RNA NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 269 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 ACCGCATCCCCGAGGCCCCAT 0.597000 37 58 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 7 111 8.12818e-05 8.57154e-05 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102304869 102304869 + RNA SNP T T C rs139457262 by1000genomes TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr15:102304869T>C ENST00000561463.1 + 0 12915 GTCCAACCTGTACTCGCGTGG 0.572000 4 36 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35476613 35476613 + Missense_Mutation SNP T T C TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr1:35476613T>C ENST00000357182.4 - 9 1314 c.1087A>G c.(1087-1089)Aca>Gca p.T363A ZMYM6_ENST00000487874.1_Missense_Mutation_p.T363A|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T363A|ZMYM6_ENST00000493328.1_5'UTR NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 363 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GAAGAGTTTGTTCCTTTTGGC 0.433000 33 54 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117700221 117700221 + Splice_Site SNP C C A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr6:117700221C>A ENST00000368508.3 - 17 2796 c.e17+1 ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACTCTACTTACCTCTGTCCCC 0.383000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 7 91 2.7689e-08 3.08838e-08 1 1 0 FLT3 2322 broad.mit.edu 37 13 28608473 28608473 + Missense_Mutation SNP C C T rs35958982 byFrequency TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr13:28608473C>T ENST00000380982.4 - 13 1750 c.1669G>A c.(1669-1671)Gtt>Att p.V557I FLT3_ENST00000537084.1_Missense_Mutation_p.V557I|FLT3_ENST00000241453.7_Missense_Mutation_p.V557I P36888 FLT3_HUMAN fms-related tyrosine kinase 3 557 V -> I (in dbSNP:rs35958982). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.V557I(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AGGGTTAAAACGACAATGAAG 0.393000 """Mis, O""" """AML, ALL""" 37 89 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124619648 124619648 + Missense_Mutation SNP C C T rs148389397 TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr11:124619648C>T ENST00000403470.1 - 4 597 c.542G>A c.(541-543)cGt>cAt p.R181H VSIG2_ENST00000326621.5_Missense_Mutation_p.R181H Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 181 Ig-like C2-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) AGTTCCAAGACGCACCCAGTT 0.557000 56 84 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5696191 5696191 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr4:5696191C>T ENST00000310917.2 - 3 812 c.81G>A c.(79-81)atG>atA p.M27I EVC2_ENST00000344408.5_Missense_Mutation_p.M107I|EVC2_ENST00000344938.1_Missense_Mutation_p.M107I NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 107 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TGAAGACTTCCATTTTCTTGT 0.413000 35 93 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924377 70924377 + Missense_Mutation SNP G G T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr14:70924377G>T ENST00000603540.1 + 2 419 c.161G>T c.(160-162)aGt>aTt p.S54I ADAM21_ENST00000267499.3_Missense_Mutation_p.S54I|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 54 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGGGGCAGAAGTGCAAAGGCT 0.522000 18 250 7.33532e-06 7.87868e-06 1 1 0 DISP2 85455 broad.mit.edu 37 15 40661876 40661876 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr15:40661876G>A ENST00000267889.3 + 8 3650 c.3563G>A c.(3562-3564)cGg>cAg p.R1188Q NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 1188 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CTGTCCCACCGGCCCTCAGTA 0.652000 61 137 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050411 164050411 + Nonsense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr4:164050411G>A ENST00000274054.2 - 8 1316 c.1123C>T c.(1123-1125)Cga>Tga p.R375* NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 375 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) GAAAATCCTCGTGTGAATTCT 0.448000 19 83 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32020677 32020677 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr6:32020677C>T ENST00000375244.3 - 26 9086 c.8885G>A c.(8884-8886)gGa>gAa p.G2962E TNXB_ENST00000375247.2_Missense_Mutation_p.G2960E P22105 TENX_HUMAN tenascin XB 3007 Fibronectin type-III 21. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGGGGAGGATCCTGTCACTGT 0.667000 6 110 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32605977 32605977 + Silent SNP A A G TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr13:32605977A>G ENST00000380250.3 + 1 541 c.45A>G c.(43-45)aaA>aaG p.K15K FRY_ENST00000463566.1_3'UTR NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 15 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) TCAGTATCAAATATTTACTGA 0.468000 23 33 0 0 1 0 0 AIFM3 150209 broad.mit.edu 37 22 21330015 21330015 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr22:21330015G>A ENST00000399167.2 + 9 995 c.755G>A c.(754-756)aGg>aAg p.R252K AIFM3_ENST00000333607.6_Missense_Mutation_p.R252K|AIFM3_ENST00000335375.5_Missense_Mutation_p.R240K|AIFM3_ENST00000405089.1_Missense_Mutation_p.R258K|AIFM3_ENST00000399163.2_Missense_Mutation_p.R252K|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.R252K NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTGGCCCTGAGGCCCAAGGAG 0.617000 53 131 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54646885 54646885 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr19:54646885C>T ENST00000406403.1 + 2 1659 c.56C>T c.(55-57)tCc>tTc p.S19F CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S19F O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 19 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AAGAAGGTGTCCGAGGGCGTG 0.547000 78 89 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48764802 48764802 + Missense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr15:48764802G>A ENST00000316623.5 - 35 4737 c.4282C>T c.(4282-4284)Cgc>Tgc p.R1428C NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1428 EGF-like 24; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CATTCACAGCGGTATCCTCCT 0.542000 6 175 0 0 1 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6521665 6521665 + Missense_Mutation SNP G G C TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr1:6521665G>C ENST00000377782.3 - 10 1177 c.1110C>G c.(1108-1110)atC>atG p.I370M TNFRSF25_ENST00000356876.3_Missense_Mutation_p.I361M|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.I316M|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.I324M|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.I178M NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 361 Death. R -> L (in dbSNP:rs1064590). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CCACGGCTTCGATCTCTGCCT 0.697000 24 23 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52902559 52902559 + Nonsense_Mutation SNP G G A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr1:52902559G>A ENST00000371544.3 - 26 4289 c.4027C>T c.(4027-4029)Cga>Tga p.R1343* ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1344* NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1343 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TGGAGGTCTCGGGGGTCAAGA 0.458000 74 118 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41058182 41058182 + Missense_Mutation SNP C C A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr5:41058182C>A ENST00000399564.4 - 7 1189 c.739G>T c.(739-741)Gat>Tat p.D247Y MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B ACATGGAAATCAATCTCTTTG 0.532000 13 56 0.00185496 0.00185496 1 1 0 RHAG 6005 broad.mit.edu 37 6 49585873 49585873 + Missense_Mutation SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr6:49585873C>T ENST00000371175.4 - 3 426 c.400G>A c.(400-402)Gga>Aga p.G134R RHAG_ENST00000229810.7_Missense_Mutation_p.G134R NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 134 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) CTCGTTTTTCCCAGGACAGCT 0.393000 26 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179445326 179445326 + Silent SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr2:179445326C>T ENST00000589042.1 - 317 67004 c.66780G>A c.(66778-66780)gaG>gaA p.E22260E TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.E13320E|TTN_ENST00000591111.1_Silent_p.E20619E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.E19692E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.E13387E|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E13195E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20619 Fibronectin type-III 61. 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) CAAGTTCTCCCTCAGGTGGAA 0.378000 16 47 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30113727 30113727 + Missense_Mutation SNP G G C TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr7:30113727G>C ENST00000449726.1 + 13 1691 c.1341G>C c.(1339-1341)tgG>tgC p.W447C PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.W447C|PLEKHA8_ENST00000258679.7_Intron|AC007285.7_ENST00000433088.1_RNA NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 447 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 ACCATGGCTGGGTAGTTCGAG 0.408000 28 65 0 0 1 0 0 SCO2 9997 broad.mit.edu 37 22 50962164 50962164 + Missense_Mutation SNP A A G rs150742660 TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr22:50962164A>G ENST00000543927.1 - 2 883 c.677T>C c.(676-678)aTt>aCt p.I226T SCO2_ENST00000252785.3_Missense_Mutation_p.I226T|SCO2_ENST00000395693.3_Missense_Mutation_p.I226T|SCO2_ENST00000535425.1_Missense_Mutation_p.I226T NM_001169109.1 NP_001162580.1 O43819 SCO2_HUMAN SCO2 cytochrome c oxidase assembly protein 226 Thioredoxin. cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding endometrium(1)|lung(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTAGATGGCAATGGAGTGGTC 0.587000 66 130 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99669671 99669671 + Missense_Mutation SNP A A G TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr15:99669671A>G ENST00000336292.6 + 5 1223 c.1103A>G c.(1102-1104)aAt>aGt p.N368S RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.N368S|SYNM_ENST00000560674.1_Missense_Mutation_p.N83S NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 369 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GCAAGTTTCAATCACAGCTCG 0.468000 8 288 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744732 62744732 + Missense_Mutation SNP C C A TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr11:62744732C>A ENST00000377871.3 - 9 1755 c.1489G>T c.(1489-1491)Gcc>Tcc p.A497S SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A497S NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 497 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.A497T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 ACAGCGCTGGCGGCCACAGGA 0.642000 21 107 2.70639e-06 2.96171e-06 1 1 0 WBP11P1 0 broad.mit.edu 37 18 30091975 30091975 + RNA SNP C C T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr18:30091975C>T ENST00000567636.1 + 0 350 NR_003558.1 ACAGATGATCCGAGACATGGA 0.413000 32 59 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131320 40131320 + Silent SNP A A T TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr1:40131320A>T ENST00000235628.1 - 3 305 c.306T>A c.(304-306)gcT>gcA p.A102A NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 102 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CGGCCTCCAGAGCCTGGAAAG 0.577000 4 86 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591247 67591249 + Splice_Site DEL GGT GGT - TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr5:67591247_67591249delGGT ENST00000521381.1 + 14 2361_2363 c.1745_splice c.e14-1 p.R582_splice PIK3R1_ENST00000274335.5_Splice_Site_p.R582_splice|PIK3R1_ENST00000320694.8_Splice_Site_p.R282_splice|PIK3R1_ENST00000523872.1_Splice_Site_p.R219_splice|PIK3R1_ENST00000336483.5_Splice_Site_p.R312_splice|PIK3R1_ENST00000396611.1_Splice_Site_p.R582_splice|PIK3R1_ENST00000521657.1_Splice_Site_p.R582_splice NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 582 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTGTTTTTCAGGTGGTTGACTCA 0.365 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 44 90 --- --- --- --- TDP2 51567 broad.mit.edu 37 6 24651110 24651110 + Frame_Shift_Del DEL C C - TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr6:24651110delC ENST00000341060.3 - 6 1216 c.821delG c.(820-822)cafs p.R274fs TDP2_ENST00000545995.1_Frame_Shift_Del_p.R362fs|TDP2_ENST00000378198.4_Frame_Shift_Del_p.R332fs O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 332 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 GTCCAAACTTCGGGGAATAAT 0.383 Direct reversal of damage 59 98 --- --- --- --- CCDC146 57639 broad.mit.edu 37 7 76916122 76916122 + Frame_Shift_Del DEL A A - TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr7:76916122delA ENST00000285871.4 + 16 2283 c.2156delA c.(2155-2157)cgfs p.Q719fs CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Frame_Shift_Del_p.Q433fs NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 719 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TAGTTTTCACAGTGTACAGAC 0.373 59 116 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63533335 63533337 + RNA DEL TCC TCC - TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr11:63533335_63533337delTCC ENST00000433688.1 - 0 597_599 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding ctcctcttcttcctcctcctcct 0.670 2 4 --- --- --- --- THRA 7067 broad.mit.edu 37 17 38245687 38245690 + Frame_Shift_Del DEL TCTT TCTT - TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7095551c-6180-4cf2-a64a-a51c721f3cd7 97caf281-250f-404a-b54f-adf3225062c4 g.chr17:38245687_38245690delTCTT ENST00000450525.2 + 9 1702_1705 c.1211_1214delTCTT c.(1210-1215)gtfs p.VF404fs THRA_ENST00000394121.4_Intron|THRA_ENST00000546243.1_Frame_Shift_Del_p.VF404fs|THRA_ENST00000264637.4_Intron|THRA_ENST00000584985.1_Intron NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 0 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TTCCTCGAGGTCTTTGAGGATCAG 0.637 22 50 --- --- --- ---