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 QPCT 25797 broad.mit.edu 37 2 37594434 37594434 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr2:37594434G>A ENST00000338415.3 + 4 764 c.606G>A c.(604-606)gaG>gaA p.E202E QPCT_ENST00000537448.1_Silent_p.E153E NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 202 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) ATGGTGAAGAGGCTTTTCTTC 0.458000 22 73 0 0 1 0 0 PVALB 5816 broad.mit.edu 37 22 37211274 37211274 + Missense_Mutation SNP C C T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr22:37211274C>T ENST00000216200.5 - 3 122 c.67G>A c.(67-69)Gac>Aac p.D23N PVALB_ENST00000404171.1_5'UTR|PVALB_ENST00000417718.2_Missense_Mutation_p.D23N NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 23 calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 TCGAAGGAGTCGGTAGCTGTG 0.507000 11 16 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44521486 44521486 + Translation_Start_Site SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr21:44521486G>A ENST00000398137.1 - 0 272 U2AF1_ENST00000380276.2_Silent_p.D63D|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000486519.1_Intron NM_001025204.1 NP_001020375.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 AGTGTGAGCCGTCAGCCGTCT 0.413000 Mis """CLL, MDS""" 4 286 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179495667 179495667 + Missense_Mutation SNP C C A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr2:179495667C>A ENST00000589042.1 - 238 44242 c.44018G>T c.(44017-44019)cGg>cTg p.R14673L TTN_ENST00000460472.2_Missense_Mutation_p.R5608L|TTN_ENST00000342992.6_Missense_Mutation_p.R12105L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5800L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5733L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13032L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13032 Ig-like 96. 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) TTTAATTTCCCGATCTAGAAA 0.473000 3 28 0.115264 0.115264 1 1 0 DPP9 91039 broad.mit.edu 37 19 4704312 4704312 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:4704312G>A ENST00000262960.9 - 6 708 c.431C>T c.(430-432)aCg>aTg p.T144M DPP9_ENST00000597849.1_Missense_Mutation_p.T144M|DPP9_ENST00000598800.1_Missense_Mutation_p.T115M|DPP9_ENST00000594671.1_Missense_Mutation_p.T115M NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 115 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) ATGGTGGGGCGTGGCCTGGAA 0.647000 28 59 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10318140 10318140 + Silent SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr3:10318140A>G ENST00000287652.4 + 5 2980 c.1929A>G c.(1927-1929)aaA>aaG p.K643K TATDN2_ENST00000448281.2_Silent_p.K643K|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 643 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 AAATCATGAAAAAGTTTGTGC 0.468000 4 79 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188312 72188312 + Missense_Mutation SNP T T C TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr16:72188312T>C ENST00000537465.1 - 4 370 c.212A>G c.(211-213)gAa>gGa p.E71G PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E71G|PMFBP1_ENST00000543746.1_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 71 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) GGACCCAAATTCCACCTCTGA 0.433000 4 111 0 0 1 0 0 BEND5 79656 broad.mit.edu 37 1 49224701 49224701 + Missense_Mutation SNP G G A rs150209705 by1000genomes TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr1:49224701G>A ENST00000371833.3 - 3 702 c.616C>T c.(616-618)Cgg>Tgg p.R206W AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR NM_024603.2 NP_078879.2 Q7L4P6 BEND5_HUMAN BEN domain containing 5 206 large_intestine(5)|lung(2)|skin(1) 8 CTCCGAGTCCGCTCCAGCTCC 0.587000 4 69 0 0 1 0 0 RP9 6100 broad.mit.edu 37 7 33136944 33136944 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr7:33136944G>A ENST00000297157.3 - 4 361 c.344C>T c.(343-345)aCg>aTg p.T115M NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 115 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) TTTGTCACCCGTTCGGTGACC 0.378000 23 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060544 9060544 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:9060544G>A ENST00000397910.4 - 3 27105 c.26902C>T c.(26902-26904)Cca>Tca p.P8968S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8970 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P8968A(2)|p.P4601A(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGACCACTGGAGATGTCACT 0.463000 12 110 0 0 1 0 0 PRSS27 83886 broad.mit.edu 37 16 2763562 2763562 + Missense_Mutation SNP C C T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr16:2763562C>T ENST00000302641.3 - 5 700 c.646G>A c.(646-648)Ggc>Agc p.G216S NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 216 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 TCCTCGAAGCCGGCGCACAGC 0.582000 5 119 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43034200 43034200 + Missense_Mutation SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr6:43034200G>A ENST00000394056.2 + 6 1223 c.728G>A c.(727-729)cGc>cAc p.R243H KLC4_ENST00000458460.2_Missense_Mutation_p.R243H|KLC4_ENST00000453940.2_Missense_Mutation_p.R166H|KLC4_ENST00000479388.1_Missense_Mutation_p.R243H|KLC4_ENST00000394058.1_Missense_Mutation_p.R243H|KLC4_ENST00000347162.5_Missense_Mutation_p.R243H|KLC4_ENST00000259708.3_Missense_Mutation_p.R261H Q9NSK0 KLC4_HUMAN kinesin light chain 4 243 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GACCTGGAGCGCACATCAGGC 0.597000 3 44 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214537876 214537876 + Missense_Mutation SNP G G C TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr1:214537876G>C ENST00000366956.5 - 18 3608 c.3414C>G c.(3412-3414)atC>atG p.I1138M PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 1138 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCAAGCAGTAGATCATCAGCT 0.567000 10 46 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769022 88769022 + RNA SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr10:88769022G>A ENST00000444431.1 + 0 3622 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CAAAACATGCGTGGGAACTCC 0.552000 6 211 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146262866 146262866 + Missense_Mutation SNP G G T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr6:146262866G>T ENST00000367503.3 - 10 2781 c.2383C>A c.(2383-2385)Cta>Ata p.L795I SHPRH_ENST00000367505.2_Missense_Mutation_p.L795I|SHPRH_ENST00000275233.7_Missense_Mutation_p.L795I|SHPRH_ENST00000438092.2_Missense_Mutation_p.L795I NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 795 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGGTTCCGTAGGCGACGCCCA 0.483000 5 39 0.014758 0.0158512 1 1 0 UBC 7316 broad.mit.edu 37 12 125397415 125397415 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr12:125397415G>A ENST00000536769.1 - 1 2479 c.903C>T c.(901-903)ctC>ctT p.L301L UBC_ENST00000546120.1_Silent_p.L225L|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L301L P0CG48 UBC_HUMAN ubiquitin C 301 Ubiquitin-like 4. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.532000 4 121 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 140001177 140001177 + Silent SNP C C A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr9:140001177C>A ENST00000371589.4 + 10 1555 c.1482C>A c.(1480-1482)gtC>gtA p.V494V MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.V197V NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 494 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TCGAGGGTGTCAGAACGCACC 0.627000 3 23 0.115264 0.115264 1 1 0 EXTL2 2135 broad.mit.edu 37 1 101339869 101339869 + Missense_Mutation SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr1:101339869A>G ENST00000370114.3 - 5 2058 c.622T>C c.(622-624)Tac>Cac p.Y208H EXTL2_ENST00000370113.3_Missense_Mutation_p.Y208H|EXTL2_ENST00000535414.1_Missense_Mutation_p.Y195H NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 208 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) ACCATAGAGTACTGGTCACCA 0.413000 3 46 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3382111 3382111 + Silent SNP G G A TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr19:3382111G>A ENST00000589123.1 + 2 525 c.405G>A c.(403-405)gaG>gaA p.E135E NFIC_ENST00000443272.2_Silent_p.E144E|NFIC_ENST00000586919.1_Silent_p.E135E|NFIC_ENST00000590282.1_Silent_p.E144E|NFIC_ENST00000346156.5_Silent_p.E135E|NFIC_ENST00000395111.3_Silent_p.E135E|NFIC_ENST00000341919.3_Silent_p.E144E NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 144 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) TCCCGCTGGAGAGCACCGACG 0.667000 28 83 0 0 1 0 0 H1F0 3005 broad.mit.edu 37 22 38201891 38201891 + Missense_Mutation SNP A A G TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr22:38201891A>G ENST00000340857.2 + 1 778 c.340A>G c.(340-342)Atc>Gtc p.I114V NM_005318.3 NP_005309.1 P07305 H10_HUMAN H1 histone family, member 0 114 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1) 7 Melanoma(58;0.045) CAAGAAGGAAATCAAGAAGGT 0.572000 10 26 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138413157 138413157 + Silent SNP C C T TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr2:138413157C>T ENST00000409968.1 + 22 4210 c.4032C>T c.(4030-4032)gtC>gtT p.V1344V THSD7B_ENST00000272643.3_Silent_p.V1347V|THSD7B_ENST00000413152.2_Silent_p.V1316V|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CTGGACGTGTCGAGGATGCAC 0.537000 4 6 0 0 1 0 0 TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 5 3 --- --- --- --- LMAN1L 79748 broad.mit.edu 37 15 75113473 75113474 + Frame_Shift_Del DEL CT CT - TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr15:75113473_75113474delCT ENST00000309664.5 + 9 1104_1105 c.965_966delCT c.(964-966)gfs p.A322fs RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.A310fs NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 322 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCTGCAGGCTCTGCGGGGTC 0.653 2 4 --- --- --- --- ABCA17P 650655 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-WB-A820-01A-11D-A35I-08 TCGA-WB-A820-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx f618a4dd-f602-4499-ac44-f8bcd60ea8ce 858c3e31-1211-4c37-bb03-991a561f0860 g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 2 4 --- --- --- ---