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 ARMC5 79798 broad.mit.edu 37 16 31477726 31477726 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr16:31477726G>A ENST00000408912.3 + 8 2926 c.2609G>A c.(2608-2610)cGg>cAg p.R870Q ARMC5_ENST00000538189.1_Missense_Mutation_p.R807Q|ARMC5_ENST00000268314.4_Missense_Mutation_p.R775Q|ARMC5_ENST00000412665.2_Missense_Mutation_p.R419Q|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000563544.1_Missense_Mutation_p.R775Q Q96C12 ARMC5_HUMAN armadillo repeat containing 5 775 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCTTTCTTCCGGGCCCTGCTG 0.667000 8 30 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100484755 100484755 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:100484755C>T ENST00000388793.4 + 15 2126 c.1906C>T c.(1906-1908)Ccc>Tcc p.P636S SRRT_ENST00000457580.2_Missense_Mutation_p.P637S|SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000432932.1_Missense_Mutation_p.P636S NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 637 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGACGAGATGCCCAATCGCTG 0.572000 5 283 0 0 1 0 0 B4GALT2 8704 broad.mit.edu 37 1 44451059 44451059 + Missense_Mutation SNP G G T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:44451059G>T ENST00000356836.6 + 5 1640 c.850G>T c.(850-852)Gac>Tac p.D284Y B4GALT2_ENST00000309519.7_Missense_Mutation_p.D313Y|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.D284Y|B4GALT2_ENST00000434555.2_Missense_Mutation_p.D218Y NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 284 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CGAGGATGATGACATCTTCAA 0.597000 15 62 1.3612e-06 1.45573e-06 1 1 0 EXOC2 55770 broad.mit.edu 37 6 564672 564672 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:564672C>T ENST00000230449.4 - 15 1675 c.1540G>A c.(1540-1542)Gtg>Atg p.V514M EXOC2_ENST00000448181.3_Missense_Mutation_p.V109M NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 514 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTAAGCTTCACCAGGGAGTGC 0.507000 16 94 0 0 1 0 0 HARBI1 283254 broad.mit.edu 37 11 46637146 46637146 + Silent SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:46637146C>A ENST00000326737.3 - 2 889 c.642G>T c.(640-642)gcG>gcT p.A214A NM_173811.3 NP_776172.1 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 214 cytoplasm|nucleus metal ion binding|nuclease activity large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 3 TGTGCATACCCGCTTCAAACT 0.498000 37 215 3.75037e-06 3.95587e-06 1 1 0 USPL1 10208 broad.mit.edu 37 13 31205139 31205139 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr13:31205139C>T ENST00000255304.4 + 4 738 c.396C>T c.(394-396)gaC>gaT p.D132D USPL1_ENST00000465952.1_3'UTR NM_005800.4 NP_005791.3 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 132 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3) 34 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TTGCTATTGACGGTGGAAAAG 0.368000 24 49 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675899 77675899 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:77675899G>A ENST00000296043.6 + 7 5216 c.4263G>A c.(4261-4263)tcG>tcA p.S1421S NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1421 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) AGAGGGTCTCGCTGCCTCAGT 0.607000 13 61 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61765872 61765872 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr8:61765872C>T ENST00000423902.2 + 31 7067 c.6588C>T c.(6586-6588)acC>acT p.T2196T CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2196 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAGAAGAAACCGATGGCAGCG 0.532000 8 60 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10394634 10394634 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:10394634C>T ENST00000377086.1 + 28 3183 c.2981C>T c.(2980-2982)gCc>gTc p.A994V KIF1B_ENST00000377081.1_Missense_Mutation_p.A994V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A948V O60333 KIF1B_HUMAN kinesin family member 1B 994 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CACAGGGTGGCCATCGTCAGT 0.517000 75 187 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701070 8701070 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:8701070C>T ENST00000329805.4 - 1 1597 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 457 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 ATGGGGAGGACGGACCACCAG 0.612000 35 128 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261696 160261696 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:160261696G>A ENST00000241704.7 - 30 3400 c.3171C>T c.(3169-3171)tgC>tgT p.C1057C COPA_ENST00000368069.3_Silent_p.C1066C NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1057 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTACTCACGGCAAATGGTGA 0.522000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 370 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399515 179399515 + Nonsense_Mutation SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:179399515C>A ENST00000589042.1 - 358 102051 c.101827G>T c.(101827-101829)Gaa>Taa p.E33943* TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E32302*|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E25003*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24878*|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E25070*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31375*|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32302 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) ATGATATTTTCTGGTCTAATG 0.368000 48 63 2.13384e-23 2.48948e-23 1 1 0 LMNB2 84823 broad.mit.edu 37 19 2434446 2434446 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:2434446C>T ENST00000325327.3 - 7 1111 c.1049G>A c.(1048-1050)cGg>cAg p.R350Q LMNB2_ENST00000582871.1_Missense_Mutation_p.R330Q Q03252 LMNB2_HUMAN lamin B2 330 Coil 2.|Rod. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCATCTTCCGGAACTTGTC 0.667000 6 77 0 0 1 0 0 NELFB 25920 broad.mit.edu 37 9 140161436 140161436 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr9:140161436C>T ENST00000343053.4 + 9 1473 c.1136C>T c.(1135-1137)tCc>tTc p.S379F NM_015456.3 NP_056271.2 negative elongation factor complex member B ATGCTCATGTCCTTCCTGGTG 0.587000 12 65 0 0 1 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44290524 44290524 + Missense_Mutation SNP G G A rs111385873 TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:44290524G>A ENST00000262915.3 + 5 553 c.376G>A c.(376-378)Gag>Aag p.E126K ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.E111K|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.E111K|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.E95K|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.E126K|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.E95K|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372369.1_Intron NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 76 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) gtcactgagcgaggacacagc 0.433000 7 28 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99641386 99641386 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr14:99641386C>T ENST00000345514.2 - 3 1840 c.1574G>A c.(1573-1575)gGc>gAc p.G525D BCL11B_ENST00000357195.3_Missense_Mutation_p.G596D|BCL11B_ENST00000443726.2_Missense_Mutation_p.G402D NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 596 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CATGACCTTGCCCAGCACCAG 0.741000 T TLX3 T-ALL 9 61 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47685565 47685565 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:47685565C>T ENST00000371883.3 - 4 1405 c.829G>A c.(829-831)Gcg>Acg p.A277T TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Missense_Mutation_p.A275T|TAL1_ENST00000294339.3_Missense_Mutation_p.A275T P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 275 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 TCTGGGGGCGCGccgccccct 0.701000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 16 16 0 0 1 0 0 ENPP7 339221 broad.mit.edu 37 17 77711840 77711840 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:77711840G>A ENST00000328313.5 + 5 1593 c.1372G>A c.(1372-1374)Gca>Aca p.A458T NM_178543.3 NP_848638.2 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 7 458 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity p.A458T(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GTCTGAGGTCGCATAACGCCC 0.642000 5 195 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60561573 60561573 + Silent SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:60561573C>A ENST00000308287.1 + 5 585 c.489C>A c.(487-489)tcC>tcA p.S163S NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 163 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 ACCCCAACTCCACGGTGAGTA 0.567000 4 159 0.00909568 0.00933823 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154394335 154394335 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr5:154394335C>G ENST00000435029.4 + 1 1076 c.916C>G c.(916-918)Cac>Gac p.H306D NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 306 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGGTAACAGCCACACTCTTAT 0.438000 57 175 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22362786 22362786 + Missense_Mutation SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:22362786T>A ENST00000397121.2 - 3 2050 c.1733A>T c.(1732-1734)tAt>tTt p.Y578F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTTCTTATGATAACTAACAGT 0.353000 14 98 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46701815 46701815 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr13:46701815C>G ENST00000398576.2 - 19 2183 c.1795G>C c.(1795-1797)Gcc>Ccc p.A599P LCP1_ENST00000323076.2_Missense_Mutation_p.A599P|LCP1_ENST00000435666.2_Missense_Mutation_p.A168P P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 599 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCTGGCAGGGCATACACTCTT 0.488000 T BCL6 NHL 10 294 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159065 18159065 + Missense_Mutation SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:18159065T>C ENST00000396275.2 + 3 677 c.316T>C c.(316-318)Tac>Cac p.Y106H NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 106 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GACCTTTCCCTACTTTATAGG 0.552000 44 230 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70956847 70956847 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:70956847G>A ENST00000334414.6 - 16 3989 c.3945C>T c.(3943-3945)tcC>tcT p.S1315S PTPRB_ENST00000261266.5_Silent_p.S1097S|PTPRB_ENST00000550358.1_Silent_p.S1227S|PTPRB_ENST00000451516.2_Silent_p.S1007S|PTPRB_ENST00000538708.1_Silent_p.S1007S|PTPRB_ENST00000551525.1_Silent_p.S1314S|PTPRB_ENST00000550857.1_Silent_p.S1007S NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1097 Fibronectin type-III 15. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGTGCCTGGTGGAGTTCTCTG 0.562000 4 47 0 0 1 0 0 ENPP3 5169 broad.mit.edu 37 6 132006590 132006590 + Missense_Mutation SNP G G T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:132006590G>T ENST00000414305.1 + 14 1535 c.1207G>T c.(1207-1209)Gcc>Tcc p.A403S ENPP3_ENST00000357639.3_Missense_Mutation_p.A403S|ENPP3_ENST00000358229.5_Missense_Mutation_p.A403S O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 403 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CGAAGGGCCTGCCCCCCGCAT 0.363000 51 269 2.41709e-19 2.737e-19 1 1 0 FGGY 55277 broad.mit.edu 37 1 60139745 60139745 + Silent SNP C C A rs114601020 by1000genomes TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:60139745C>A ENST00000371218.4 + 15 1708 c.1524C>A c.(1522-1524)tcC>tcA p.S508S FGGY_ENST00000371212.1_Silent_p.S396S|FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000303721.7_Silent_p.S484S NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 484 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AGGTGGAGTCCGTTCTTGTGG 0.612000 9 26 4.68919e-08 5.08546e-08 1 1 0 FAM193A 8603 broad.mit.edu 37 4 2641515 2641515 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:2641515C>T ENST00000324666.5 + 4 570 c.219C>T c.(217-219)caC>caT p.H73H FAM193A_ENST00000545951.1_Silent_p.H73H|FAM193A_ENST00000382839.3_Silent_p.H73H|FAM193A_ENST00000502458.1_Silent_p.H73H|FAM193A_ENST00000505311.1_Silent_p.H73H NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 73 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ATAATAAACACCTGTTTGAAA 0.398000 20 86 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40117329 40117329 + RNA SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:40117329C>T ENST00000591658.1 + 0 1718 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) AGGAGGCCTTCGGGAGAATTA 0.463000 7 30 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104738 5104738 + Silent SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:5104738T>C ENST00000396912.1 + 5 2170 c.1651T>C c.(1651-1653)Ttg>Ctg p.L551L RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.L551L|RBAK_ENST00000407184.1_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 551 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ATTCAATGAGTTGTCATACTA 0.388000 16 112 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179428692 179428692 + Silent SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:179428692C>A ENST00000589042.1 - 326 82391 c.82167G>T c.(82165-82167)ctG>ctT p.L27389L TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L25748L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L18449L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L18324L|TTN_ENST00000342175.6_Silent_p.L18516L|TTN_ENST00000342992.6_Silent_p.L24821L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25748 Fibronectin type-III 99. 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) GGTTCCATGCCAGGTAACATT 0.468000 4 192 0.00909568 0.00933823 1 1 0 GFPT1 2673 broad.mit.edu 37 2 69556851 69556851 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:69556851C>T ENST00000357308.4 - 16 1740 c.1562G>A c.(1561-1563)cGc>cAc p.R521H GFPT1_ENST00000361060.4_Missense_Mutation_p.R503H NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 521 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GATCTCTTTGCGTCTTTCTTG 0.408000 30 117 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885104 88885104 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr8:88885104C>T ENST00000319675.3 - 1 1192 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 366 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAGAAGGCCACACTGGGAATG 0.592000 19 183 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6666429 6666429 + Silent SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:6666429T>A ENST00000541778.1 - 16 2645 c.2157A>T c.(2155-2157)acA>acT p.T719T NOP2_ENST00000322166.5_Silent_p.T723T|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000537442.1_Silent_p.T723T|NOP2_ENST00000382421.3_Silent_p.T756T|NOP2_ENST00000399466.2_Silent_p.T719T P46087 NOP2_HUMAN NOP2 nucleolar protein 723 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 TTTGTGTGTCTGTGCCCTTGG 0.537000 62 436 0 0 1 0 0 COX18 285521 broad.mit.edu 37 4 73923918 73923918 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:73923918G>A ENST00000295890.4 - 6 1006 c.915C>T c.(913-915)tgC>tgT p.C305C COX18_ENST00000507544.2_Silent_p.C306C NM_173827.2 NP_776188.1 Q8N8Q8 COX18_HUMAN COX18 cytochrome C oxidase assembly factor 305 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity large_intestine(4)|lung(2) 6 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATGGTATTCGGCAAAGTTGGC 0.393000 4 193 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152660381 152660381 + Missense_Mutation SNP G G T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:152660381G>T ENST00000367255.5 - 75 12947 c.12346C>A c.(12346-12348)Caa>Aaa p.Q4116K SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3981K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q4045K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q4116K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q4045K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4116 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTACCGTTTGCTCTGTTTGT 0.378000 HNSCC(10;0.0054) 32 70 1.99505e-19 2.29282e-19 1 1 0 FAT1 2195 broad.mit.edu 37 4 187518256 187518256 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:187518256G>A ENST00000441802.2 - 25 12647 c.12438C>T c.(12436-12438)caC>caT p.H4146H NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4146 EGF-like 5; calcium-binding (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GATAGGAGCCGTGCGTGTTCT 0.587000 HNSCC(5;0.00058) 10 50 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159091598 159091598 + Silent SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:159091598G>A ENST00000592057.1 - 2 1332 c.930C>T c.(928-930)ttC>ttT p.F310F FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000393807.5_Intron Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 0 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TGCAAATAACGAAGCATGTGA 0.463000 27 68 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5662726 5662726 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:5662726G>A ENST00000425013.2 - 17 2590 c.2366C>T c.(2365-2367)cCg>cTg p.P789L RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.P846L NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 789 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CAGGTTCTGCGGAACGGGCCT 0.627000 13 75 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 23689485 23689485 + Missense_Mutation SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:23689485C>A ENST00000546136.1 - 13 1853 c.1851G>T c.(1849-1851)aaG>aaT p.K617N SOX5_ENST00000451604.2_Missense_Mutation_p.K630N|SOX5_ENST00000309359.1_Missense_Mutation_p.K617N|SOX5_ENST00000537393.1_Missense_Mutation_p.K595N|SOX5_ENST00000396007.2_Missense_Mutation_p.K244N|SOX5_ENST00000545921.1_Missense_Mutation_p.K620N|SOX5_ENST00000381381.2_Missense_Mutation_p.K509N|SOX5_ENST00000541536.1_Missense_Mutation_p.K509N P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 630 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.K630K(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GGCAGGTGCGCTTTGGCCTGG 0.517000 33 136 1.22384e-17 1.36573e-17 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51927390 51927390 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr6:51927390C>T ENST00000371117.3 - 14 1320 c.1045G>A c.(1045-1047)Ggg>Agg p.G349R PKHD1_ENST00000340994.4_Missense_Mutation_p.G349R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 349 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACCTGTACCCTGGGGTGGCT 0.478000 44 209 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35107972 35107972 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr9:35107972C>T ENST00000378561.1 - 2 3355 c.300G>A c.(298-300)ggG>ggA p.G100G FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Silent_p.G100G|FAM214B_ENST00000603301.1_Silent_p.G100G|FAM214B_ENST00000488109.2_Silent_p.G100G|FAM214B_ENST00000378557.1_Silent_p.G100G|FAM214B_ENST00000378554.2_Silent_p.G100G|FAM214B_ENST00000605244.1_Silent_p.G100G Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 100 nucleus GGCCTAAGAGCCCCACAGTAG 0.622000 21 234 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3215034 3215034 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr18:3215034C>T ENST00000356443.4 - 2 521 c.188G>A c.(187-189)cGg>cAg p.R63Q RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R63Q|MYOM1_ENST00000400569.3_Missense_Mutation_p.R63Q NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 63 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GGCGGACGCCCGACGGAAGGC 0.687000 11 33 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66519029 66519029 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:66519029G>A ENST00000589228.1 + 3 438 c.310G>A c.(310-312)Gtc>Atc p.V104I PRKAR1A_ENST00000588188.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.V104I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.V104I|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.V104I NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 104 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) CAGCGCTGAGGTCTACACGGA 0.512000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 5 169 0 0 1 0 0 NIFK 84365 broad.mit.edu 37 2 122485367 122485367 + Missense_Mutation SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:122485367T>A ENST00000285814.4 - 7 887 c.815A>T c.(814-816)gAa>gTa p.E272V AC018737.1_ENST00000419902.1_RNA NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 272 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 TTGTATTTCTTCTTTTACACA 0.333000 32 151 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80752037 80752037 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:80752037C>G ENST00000458043.2 + 49 6008 c.6002C>G c.(6001-6003)tCt>tGt p.S2001C OTOGL_ENST00000547103.1_Missense_Mutation_p.S1989C|OTOGL_ENST00000546620.1_Missense_Mutation_p.S20C NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTTTGTGAATCTTGCACCAAA 0.348000 12 44 0 0 1 0 0 TXNDC9 10190 broad.mit.edu 37 2 99949494 99949494 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr2:99949494C>T ENST00000264255.3 - 2 435 c.180G>A c.(178-180)caG>caA p.Q60Q TXNDC9_ENST00000409434.1_Silent_p.Q60Q NM_005783.3 NP_005774.2 O14530 TXND9_HUMAN thioredoxin domain containing 9 60 cell redox homeostasis protein binding lung(1) 1 CTTGTTTCTGCTGTTGAGCTT 0.388000 42 143 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23350773 23350773 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr20:23350773G>A ENST00000338121.5 + 6 1908 c.1831G>A c.(1831-1833)Gat>Aat p.D611N GZF1_ENST00000377051.2_Missense_Mutation_p.D611N|GZF1_ENST00000542987.1_Missense_Mutation_p.D120N|GZF1_ENST00000544236.1_Missense_Mutation_p.D135N Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 611 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGTCATTGTAGATGGCTCGCC 0.418000 30 67 0 0 1 0 0 SPEM1 374768 broad.mit.edu 37 17 7324698 7324698 + Missense_Mutation SNP A A C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:7324698A>C ENST00000323675.3 + 3 729 c.704A>C c.(703-705)tAc>tCc p.Y235S RP11-104H15.7_ENST00000575310.1_RNA NM_199339.2 NP_955371.2 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 235 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) GCGGCTCAGTACCAGCCTGTC 0.637000 6 31 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36563712 36563712 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:36563712G>A ENST00000397799.1 - 4 1794 c.1570C>T c.(1570-1572)Ccc>Tcc p.P524S COL8A2_ENST00000481785.1_Missense_Mutation_p.P459S|COL8A2_ENST00000303143.4_Missense_Mutation_p.P524S P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 524 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGGGGCCCGGGAGGCCCCGGA 0.756000 6 4 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160062156 160062156 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:160062156C>T ENST00000368086.1 - 5 1858 c.1642G>A c.(1642-1644)Gcc>Acc p.A548T IGSF8_ENST00000314485.7_Missense_Mutation_p.A548T Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 548 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGCACCCAGGCGCTGGGGGCA 0.647000 20 107 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20854732 20854732 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr14:20854732C>T ENST00000262715.5 - 19 2775 c.2735G>A c.(2734-2736)gGg>gAg p.G912E TEP1_ENST00000556935.1_Missense_Mutation_p.G804E NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 912 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GTCCCGCTCCCCATGCATGTC 0.622000 9 28 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66270139 66270139 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:66270139C>T ENST00000273854.3 - 8 2343 c.1743G>A c.(1741-1743)gtG>gtA p.V581V EPHA5_ENST00000511294.1_Silent_p.V582V|EPHA5_ENST00000432638.2_Silent_p.V418V|EPHA5_ENST00000354839.4_Silent_p.V581V NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 581 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AAATGACTCCCACTGTCACAG 0.473000 TSP Lung(17;0.13) 10 100 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938804 2938804 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:2938804C>T ENST00000378404.2 + 1 759 c.554C>T c.(553-555)gCg>gTg p.A185V NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 185 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CTCCACGTGGCGGGCAGGGAC 0.642000 12 79 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578427 7578427 + Missense_Mutation SNP T T A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:7578427T>A ENST00000420246.2 - 5 635 c.503A>T c.(502-504)cAc>cTc p.H168L TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H168L|TP53_ENST00000269305.4_Missense_Mutation_p.H168L|TP53_ENST00000413465.2_Missense_Mutation_p.H168L|TP53_ENST00000445888.2_Missense_Mutation_p.H168L|TP53_ENST00000455263.2_Missense_Mutation_p.H168L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 168 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; 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.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(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) CTCCGTCATGTGCTGTGACTG 0.652000 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) 11 48 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101120660 101120660 + Missense_Mutation SNP C C A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr15:101120660C>A ENST00000314742.8 - 2 610 c.388G>T c.(388-390)Gat>Tat p.D130Y LINS_ENST00000561308.1_Missense_Mutation_p.D130Y|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Intron NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 130 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 AATTTAGAATCGACTTTGGCT 0.313000 13 81 9.05144e-12 9.95659e-12 1 1 0 GC 2638 broad.mit.edu 37 4 72618359 72618359 + Missense_Mutation SNP T T C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:72618359T>C ENST00000273951.8 - 11 1614 c.1271A>G c.(1270-1272)gAg>gGg p.E424G GC_ENST00000504199.1_Missense_Mutation_p.E443G|GC_ENST00000513476.1_Missense_Mutation_p.E424G|GC_ENST00000503472.1_5'UTR NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 424 Albumin 3. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) TTTTAGTCGCTCTGCCAGTCT 0.373000 18 157 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425421 49425421 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr12:49425421C>T ENST00000301067.7 - 39 13066 c.13067G>A c.(13066-13068)gGg>gAg p.G4356E NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGAGACCCTCCCAGGAGGCGG 0.622000 3 26 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 3 100 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16270105 16270105 + Missense_Mutation SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:16270105C>T ENST00000375733.2 - 11 1803 c.1565G>A c.(1564-1566)cGc>cAc p.R522H ZBTB17_ENST00000375743.4_Missense_Mutation_p.R522H|ZBTB17_ENST00000537142.1_Missense_Mutation_p.R440H Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 522 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TGTGTGAATGCGGACGTGCCG 0.662000 4 140 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16035066 16035066 + Missense_Mutation SNP G G A TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr4:16035066G>A ENST00000505450.1 - 4 955 c.343C>T c.(343-345)Cct>Tct p.P115S PROM1_ENST00000447510.2_Missense_Mutation_p.P124S|PROM1_ENST00000540805.1_Missense_Mutation_p.P124S|PROM1_ENST00000543373.1_Missense_Mutation_p.P115S|PROM1_ENST00000539194.1_Missense_Mutation_p.P124S|PROM1_ENST00000508167.1_Missense_Mutation_p.P115S|PROM1_ENST00000510224.1_Missense_Mutation_p.P124S|PROM1_ENST00000502943.1_5'UTR NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 124 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CCCACCAGAGGCATCAGAATA 0.428000 7 35 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23191380 23191380 + Silent SNP C C T TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:23191380C>T ENST00000400191.3 + 5 996 c.978C>T c.(976-978)tcC>tcT p.S326S EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.S326S|EPHB2_ENST00000544305.1_Silent_p.S326S|EPHB2_ENST00000374632.3_Silent_p.S326S|EPHB2_ENST00000374627.1_Silent_p.S320S NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 326 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCATCCCCTCCGCGCCCCAGG 0.652000 16 116 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43900933 43900933 + Frame_Shift_Del DEL T T - TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr1:43900933delT ENST00000562955.1 + 41 5796 c.5796delT c.(5794-5796)agfs p.S1932fs SZT2_ENST00000372442.1_Frame_Shift_Del_p.S1090fs NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1989 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGGCCGAGAGTGAAGAAGATC 0.572 16 138 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149503917 149503920 + RNA DEL GATA GATA - rs72359812 TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr7:149503917_149503920delGATA ENST00000378016.2 + 0 8745 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGGCCCCGGGATAGATAGAGTGT 0.652 4 4 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 18 66 --- --- --- --- RP11-179A10.1 0 broad.mit.edu 37 11 11158593 11158593 + RNA DEL A A - rs11303970 TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:11158593delA ENST00000525758.1 + 0 108 aaaaaaaaagaaaaaaaaata 0.388 3 6 --- --- --- --- SLC22A11 55867 broad.mit.edu 37 11 64323714 64323715 + Frame_Shift_Ins INS - - C TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr11:64323714_64323715insC ENST00000301891.4 + 1 617_618 c.243_244insC c.(241-246)ggcccafs p.GP81fs SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Frame_Shift_Ins_p.GP81fs|SLC22A11_ENST00000377581.3_Frame_Shift_Ins_p.GP81fs NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 81 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CCAACCAGGGGCCCCACCAGTG 0.644 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 286 --- --- --- --- ADCY7 113 broad.mit.edu 37 16 50340985 50340986 + Frame_Shift_Ins INS - - C rs74793314 TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr16:50340985_50340986insC ENST00000394697.2 + 15 2117_2118 c.1777_1778insC c.(1777-1779)ccgfs p.P593fs ADCY7_ENST00000566433.2_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000538642.1_Frame_Shift_Ins_p.P593fs|ADCY7_ENST00000254235.3_Frame_Shift_Ins_p.P593fs P51828 ADCY7_HUMAN adenylate cyclase 7 593 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CATCCCCCGGGCCCGCCACGAC 0.658 7 50 --- --- --- --- KIF18B 146909 broad.mit.edu 37 17 43012716 43012719 + Frame_Shift_Del DEL TGCC TGCC - TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr17:43012716_43012719delTGCC ENST00000587309.1 - 3 402_405 c.379_382delGGCA c.(379-384)tcfs p.GI127fs KIF18B_ENST00000339151.4_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000438933.2_Frame_Shift_Del_p.GI127fs|KIF18B_ENST00000590129.1_Frame_Shift_Del_p.GI136fs|KIF18B_ENST00000593135.1_Frame_Shift_Del_p.GI127fs NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) AGGTACATGATGCCGGGGTCCCCC 0.637 9 58 --- --- --- --- ZNF611 81856 broad.mit.edu 37 19 53208627 53208638 + In_Frame_Del DEL TATGAATTCTAG TATGAATTCTAG - rs151210254 by1000genomes TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr19:53208627_53208638delTATGAATTCTAG ENST00000543227.1 - 6 1944_1955 c.1670_1681delCTAGAATTCATA c.(1669-1683)agt>a p.TRIHS557del ZNF611_ENST00000540744.1_In_Frame_Del_p.TRIHS557del|ZNF611_ENST00000453741.2_In_Frame_Del_p.TRIHS488del|ZNF611_ENST00000602162.1_In_Frame_Del_p.TRIHS488del|ZNF611_ENST00000319783.1_In_Frame_Del_p.TRIHS557del|ZNF611_ENST00000595798.1_In_Frame_Del_p.TRIHS488del NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 557 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTCTCTCCACTATGAATTCTAGTATGTTTTGC 0.406 62 403 --- --- --- --- DEFB118 117285 broad.mit.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr20:29960672delA ENST00000253381.2 + 2 104 c.71delA c.(70-72)gafs p.E24fs NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 24 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TATAGTGGTGAAAAAAAATGC 0.398 15 70 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11042402 11042406 + RNA DEL AAAAC AAAAC - rs113265926 TCGA-CN-4737-01A-01D-1434-08 TCGA-CN-4737-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c6857bb-f20f-4ac9-9c2c-cb83c5387a74 5afbe444-612c-47f3-bec3-96ceabdf9d1c g.chr21:11042402_11042406delAAAAC ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaaaaaaaaaaaaacacctcataat 0.424 4 5 --- --- --- ---