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 RP11-24M17.5 0 broad.mit.edu 37 15 76075458 76075458 + RNA SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr15:76075458G>A ENST00000395215.3 + 0 1098 GAGAGGCTGCGAAAGCAGGAG 0.607000 8 261 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 71 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29240059 29240059 + Nonsense_Mutation SNP C C T TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr2:29240059C>T ENST00000379558.4 + 9 1435 c.1084C>T c.(1084-1086)Cag>Tag p.Q362* FAM179A_ENST00000403861.2_Nonsense_Mutation_p.Q362*|FAM179A_ENST00000465300.1_Intron NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 362 Q -> R (in dbSNP:rs11127202). binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GGAGAAGATGCAGCTGAAGCA 0.537000 4 101 0 0 1 0 0 FAM66D 0 broad.mit.edu 37 8 11986539 11986539 + RNA SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr8:11986539G>A ENST00000434078.2 + 0 608 NR_027425.1 GCATTCAAGTGGCAGGTATTT 0.557000 4 90 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17017734 17017734 + RNA SNP C C T rs12561805 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr1:17017734C>T ENST00000492551.1 - 0 1993 NR_026567.1 CAGCTTCTTCCGCAGGAGGTC 0.647000 12 30 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr7:140453134T>C ENST00000288602.6 - 15 1861 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 20 42 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31267621 31267621 + Missense_Mutation SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr5:31267621G>A ENST00000265071.2 + 2 306 c.41G>A c.(40-42)gGc>gAc p.G14D CDH6_ENST00000514738.1_5'UTR|RP11-152K4.2_ENST00000523584.1_RNA NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 14 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTTTGGGTGGGCCAGCCCTAC 0.517000 4 105 0 0 1 0 0 AGFG1 3267 broad.mit.edu 37 2 228399585 228399585 + Missense_Mutation SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr2:228399585G>A ENST00000310078.7 + 8 1309 c.1049G>A c.(1048-1050)gGg>gAg p.G350E AGFG1_ENST00000409979.2_Missense_Mutation_p.G374E|AGFG1_ENST00000409315.1_Intron|AGFG1_ENST00000373671.3_Missense_Mutation_p.G310E|AGFG1_ENST00000409171.1_Missense_Mutation_p.G350E NM_001135188.1|NM_004504.4 NP_001128660.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 350 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 AGTGGCTTTGGGACCACAGGT 0.438000 14 46 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 3 26 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 6 99 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37455265 37455265 + Missense_Mutation SNP C C G TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr17:37455265C>G ENST00000264658.6 - 5 567 c.307G>C c.(307-309)Gga>Cga p.G103R FBXL20_ENST00000577399.1_Missense_Mutation_p.G105R|FBXL20_ENST00000583610.1_Missense_Mutation_p.G103R|FBXL20_ENST00000394294.3_Missense_Mutation_p.G103R NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 103 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) TCTCCCACTCCAAGACATCCA 0.403000 18 59 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99119217 99119217 + Missense_Mutation SNP C C T TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr12:99119217C>T ENST00000357310.1 + 24 3803 c.3226C>T c.(3226-3228)Cca>Tca p.P1076S APAF1_ENST00000359972.2_Missense_Mutation_p.P1065S|APAF1_ENST00000547045.1_Missense_Mutation_p.P1076S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.P1108S|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.P1119S NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 1119 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TCTCCTTTTGCCACTTCATGA 0.468000 4 61 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075478 76075478 + RNA SNP T T C TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr15:76075478T>C ENST00000395215.3 + 0 1118 GCAGAGGCTATGCAagcagga 0.602000 8 280 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008888 11008888 + Missense_Mutation SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr1:11008888G>A ENST00000377004.4 - 12 1303 c.1304C>T c.(1303-1305)cCa>cTa p.P435L C1orf127_ENST00000377008.4_Missense_Mutation_p.P268L NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 286 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TTGCAGGAATGGTCCAAGCCC 0.557000 3 52 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64577307 64577307 + Missense_Mutation SNP C C T TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr11:64577307C>T ENST00000337652.1 - 2 778 c.275G>A c.(274-276)cGc>cAc p.R92H MEN1_ENST00000394376.1_Missense_Mutation_p.R92H|MEN1_ENST00000377316.2_Missense_Mutation_p.R92H|MEN1_ENST00000377321.1_Missense_Mutation_p.R92H|MEN1_ENST00000394374.2_Missense_Mutation_p.R92H|MEN1_ENST00000312049.6_Missense_Mutation_p.R92H|MEN1_ENST00000377326.3_Missense_Mutation_p.R92H|MEN1_ENST00000377313.1_Missense_Mutation_p.R92H|MEN1_ENST00000443283.1_Missense_Mutation_p.R92H|MEN1_ENST00000315422.4_Missense_Mutation_p.R92H NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 92 Missing (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.R92fs*26(4) NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GGCGGTGAAGCGGGCATAGAG 0.662000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 3 29 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899280 133899280 + Missense_Mutation SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr8:133899280G>A ENST00000220616.4 + 9 1703 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K TG_ENST00000377869.1_Missense_Mutation_p.E555K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 555 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) CTTTGGCTTTGAAATTAACCT 0.443000 17 40 0 0 1 0 0 RAB39B 116442 broad.mit.edu 37 X 154490502 154490502 + Silent SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chrX:154490502G>A ENST00000369454.3 - 2 528 c.228C>T c.(226-228)cgC>cgT p.R76R NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 76 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding p.R76R(1) breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGTAGTAGGCGCGAGTGATGG 0.428000 56 140 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31581716 31581716 + Missense_Mutation SNP C C A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr14:31581716C>A ENST00000399332.1 - 35 6672 c.6184G>T c.(6184-6186)Gac>Tac p.D2062Y HECTD1_ENST00000553700.1_Missense_Mutation_p.D2062Y NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2062 K-box. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TCACACCAGTCTGGCAGAGCC 0.403000 8 22 0.000274275 0.000291417 1 1 0 DHX57 90957 broad.mit.edu 37 2 39089419 39089419 + Missense_Mutation SNP C C A rs145119195 TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr2:39089419C>A ENST00000295373.6 - 4 566 c.440G>T c.(439-441)cGg>cTg p.R147L AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 147 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TGGCCAGTACCGCTCATCGTT 0.463000 3 30 0.115264 0.115264 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 93 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29365088 29365088 + Silent SNP T T C rs144790258 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr6:29365088T>C ENST00000383555.2 + 1 673 c.612T>C c.(610-612)atT>atC p.I204I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CGGGGACAATTGCCATGGGCC 0.443000 5 126 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32754250 32754250 + Silent SNP C C T rs145058885 byFrequency TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr22:32754250C>T ENST00000249007.4 + 1 397 c.192C>T c.(190-192)atC>atT p.I64I RFPL3_ENST00000397468.1_Silent_p.I35I|RFPL3_ENST00000382088.3_Silent_p.I35I NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 64 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TCAAGTGCATCAATTCGCTGC 0.532000 4 84 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 12 85 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 3 3 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000337523.5_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 34 152 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521769 32521771 + RNA DEL ATT ATT - rs77824792 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr6:32521769_32521771delATT ENST00000411500.1 - 0 740 NR_001298.1 AGGTTTAGTGATTTTTATTCCAA 0.429 5 3 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 3 6 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 4 3 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 8 160 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 22 50 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr17:56056587_56056589delTGT ENST00000584396.1 - 5 1123_1125 c.1035_1037delACA c.(1033-1038)cat>ca p.QH345del VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 354 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GCTTGTCACAtgttgttgttgtt 0.473 7 195 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-ET-A4KQ-01A-12D-A257-08 TCGA-ET-A4KQ-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c14ddc-0f13-4c93-8996-a9e9a6d0ab1e 096007b2-e058-4848-8a88-4fb06e30b2d5 g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 7 201 --- --- --- ---