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 SPTA1 6708 broad.mit.edu 37 1 158637824 158637824 + Missense_Mutation SNP T T A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr1:158637824T>A ENST00000368147.4 - 15 2042 c.1862A>T c.(1861-1863)cAa>cTa p.Q621L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTGCTGCTTTTGAACCCTGCT 0.388 4 189 --- --- --- --- BUB1 699 broad.mit.edu 37 2 111416223 111416223 + Missense_Mutation SNP G G T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr2:111416223G>T ENST00000535254.1 - 11 1380 c.1313C>A c.(1312-1314)cCa>cAa p.P438Q BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 458 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGTGGGTGATGGCTGCACTTT 0.433 4 81 --- --- --- --- RFTN1 23180 broad.mit.edu 37 3 16364942 16364942 + Missense_Mutation SNP G G C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:16364942G>C ENST00000334133.4 - 9 1545 c.1273C>G c.(1273-1275)Cag>Gag p.Q425E OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 425 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 AAGACAATCTGCTTGGTGGAT 0.473 14 52 --- --- --- --- VIPR1 7433 broad.mit.edu 37 3 42567412 42567412 + Missense_Mutation SNP G G T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:42567412G>T ENST00000433647.1 + 5 827 c.203G>T c.(202-204)gGc>gTc p.G68V VIPR1_ENST00000438259.2_5'UTR|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1_ENST00000325123.4_Missense_Mutation_p.G109V|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.G62V|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 109 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) ACCGACGAAGGCTGGACGCAC 0.647 3 36 --- --- --- --- ALDH1L1 10840 broad.mit.edu 37 3 125824617 125824617 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:125824617C>G ENST00000393434.2 - 22 2954 c.2605G>C c.(2605-2607)Gcc>Ccc p.A869P ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 869 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) AAGGGAGCGGCCACGTCGGTC 0.488 40 125 --- --- --- --- AHSG 197 broad.mit.edu 37 3 186338454 186338454 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr3:186338454C>T ENST00000411641.2 + 7 1058 c.839C>T c.(838-840)tCc>tTc p.S280F AHSG_ENST00000273784.5_Missense_Mutation_p.S281F P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 280 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GCACCTCCGTCCCCTCCACTT 0.627 43 163 --- --- --- --- CCNG2 901 broad.mit.edu 37 4 78082099 78082099 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr4:78082099A>G ENST00000316355.5 + 4 858 c.502A>G c.(502-504)Att>Gtt p.I168V CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 168 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 ATACCATACTATTATACTTTG 0.313 9 48 --- --- --- --- TRPC7 57113 broad.mit.edu 37 5 135692511 135692511 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr5:135692511G>A ENST00000513104.1 - 2 847 c.565C>T c.(565-567)Cgc>Tgc p.R189C TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 189 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CGCTCGATGCGGGCGCCCTTG 0.622 24 94 --- --- --- --- TRIM10 10107 broad.mit.edu 37 6 30121516 30121516 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr6:30121516G>A ENST00000376704.3 - 8 1212 c.1137C>T c.(1135-1137)tgC>tgT p.C379C TRIM10_ENST00000449742.2_3'UTR NM_052828.2 NP_439893.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 0 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 AGAACTGGCAGCAGCCTGAGT 0.547 3 44 --- --- --- --- PTCHD4 442213 broad.mit.edu 37 6 47846113 47846113 + Missense_Mutation SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr6:47846113C>T ENST00000339488.4 - 3 2500 c.2467G>A c.(2467-2469)Gcc>Acc p.A823T NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 823 integral to membrane hedgehog receptor activity TTTCGCTTGGCACGTTTCTTT 0.438 26 67 --- --- --- --- ZCWPW1 55063 broad.mit.edu 37 7 100014780 100014780 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr7:100014780C>G ENST00000398027.2 - 6 635 c.388G>C c.(388-390)Gag>Cag p.E130Q ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 130 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAAGAAGTCTCTGCAAAATCA 0.413 20 57 --- --- --- --- CCSER2 54462 broad.mit.edu 37 10 86132184 86132184 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr10:86132184C>G ENST00000224756.8 + 2 1561 c.1376C>G c.(1375-1377)gCc>gGc p.A459G CCSER2_ENST00000359979.4_Missense_Mutation_p.A459G|CCSER2_ENST00000372088.2_Missense_Mutation_p.A459G NM_001284243.1|NM_018999.2 NP_001271172.1|NP_061872.2 coiled-coil serine-rich protein 2 AATGAAAAAGCCTTCAGTAAA 0.328 5 97 --- --- --- --- EXT2 2132 broad.mit.edu 37 11 44151632 44151632 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr11:44151632G>A ENST00000395673.3 + 7 1272 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M|EXT2_ENST00000533608.1_Missense_Mutation_p.V373M NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 373 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GATGTCAGATGTGTACAGTAT 0.453 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 23 53 --- --- --- --- GAB2 9846 broad.mit.edu 37 11 77961404 77961404 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr11:77961404G>A ENST00000361507.4 - 3 504 c.419C>T c.(418-420)tCt>tTt p.S140F GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Missense_Mutation_p.S102F NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 140 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) AGCTGGAGAAGAGCGGGGGCC 0.517 28 62 --- --- --- --- DDX47 51202 broad.mit.edu 37 12 12974651 12974651 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr12:12974651A>G ENST00000358007.3 + 4 455 c.433A>G c.(433-435)Ata>Gta p.I145V DDX47_ENST00000352940.4_Missense_Mutation_p.I145V NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 145 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) AAAACCACATATAATAATAGG 0.358 12 42 --- --- --- --- ZIC5 85416 broad.mit.edu 37 13 100622586 100622586 + Silent SNP C C T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr13:100622586C>T ENST00000267294.4 - 1 1577 c.1344G>A c.(1342-1344)gaG>gaA p.E448E NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 448 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTCCCACGTGCTCCACCGTGA 0.677 16 39 --- --- --- --- GZMB 3002 broad.mit.edu 37 14 25101106 25101106 + Silent SNP C C T rs150419134 byFrequency TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr14:25101106C>T ENST00000216341.4 - 4 664 c.558G>A c.(556-558)gaG>gaA p.E186E GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000382542.1_Silent_p.E220E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382540.1_Silent_p.E141E P10144 GRAB_HUMAN granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 186 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) CCACGCACAACTCAATGGTAC 0.453 25 122 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256863 69256863 + Missense_Mutation SNP C C A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr14:69256863C>A ENST00000439696.2 - 2 705 c.404G>T c.(403-405)tGc>tTc p.C135F ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 135 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGCGAACTGGCACTTGTCCCC 0.642 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 159 --- --- --- --- LRRC49 54839 broad.mit.edu 37 15 71185232 71185232 + Translation_Start_Site SNP T T G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr15:71185232T>G ENST00000443425.2 + 0 62 LRRC49_ENST00000260382.5_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame NM_001199018.1 NP_001185947.1 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 CTGTCTCCTATCATGATTCCC 0.512 OREG0023244 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 101 --- --- --- --- TTLL6 284076 broad.mit.edu 37 17 46863542 46863542 + Missense_Mutation SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr17:46863542G>A ENST00000393382.3 - 12 1886 c.1745C>T c.(1744-1746)aCc>aTc p.T582I TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 534 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGAGGCTTGGGTGGCGGCCTT 0.577 13 530 --- --- --- --- UHRF1 29128 broad.mit.edu 37 19 4930834 4930834 + RNA SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:4930834C>G ENST00000592666.1 + 0 1091 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CCCTGCAGCTCCACGTCCAGG 0.647 29 82 --- --- --- --- ZNF473 25888 broad.mit.edu 37 19 50548980 50548980 + Missense_Mutation SNP G G T TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:50548980G>T ENST00000595661.1 + 6 1775 c.1280G>T c.(1279-1281)gGa>gTa p.G427V ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.G427V|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G415V|ZNF473_ENST00000391821.2_Missense_Mutation_p.G427V Q8WTR7 ZN473_HUMAN zinc finger protein 473 427 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GTTCACAGTGGAGAGAAGCCT 0.493 5 71 --- --- --- --- FPR2 2358 broad.mit.edu 37 19 52272405 52272405 + Missense_Mutation SNP C C A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr19:52272405C>A ENST00000598776.1 + 2 1266 c.494C>A c.(493-495)aCt>aAt p.T165N FPR2_ENST00000598953.1_Missense_Mutation_p.T165N|FPR2_ENST00000340023.6_Missense_Mutation_p.T165N NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 165 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CTCTTTTTGACTACAGTAACT 0.512 3 108 --- --- --- --- VPS16 64601 broad.mit.edu 37 20 2846119 2846119 + Missense_Mutation SNP A A G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr20:2846119A>G ENST00000380445.3 + 22 2321 c.2249A>G c.(2248-2250)aAg>aGg p.K750R PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Missense_Mutation_p.K606R|VPS16_ENST00000380443.3_Missense_Mutation_p.K436R NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 750 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 TCCAAGAGCAAGAAATCACCC 0.562 14 34 --- --- --- --- SUSD2 56241 broad.mit.edu 37 22 24581635 24581635 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chr22:24581635G>A ENST00000358321.3 + 8 1338 c.1077G>A c.(1075-1077)cgG>cgA p.R359R NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 359 AMOP. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GCAGCCTCCGGTACGGCTCAG 0.697 10 24 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123179182 123179182 + Missense_Mutation SNP C C G TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chrX:123179182C>G ENST00000371160.1 + 8 921 c.631C>G c.(631-633)Caa>Gaa p.Q211E STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 211 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GTCTGACTCACAAGTCAGAGC 0.353 3 142 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151869994 151869994 + Missense_Mutation SNP A A C TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chrX:151869994A>C ENST00000329342.5 + 3 909 c.684A>C c.(682-684)ttA>ttC p.L228F NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 228 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TGAGTGTGTTAGAGGTGTTTG 0.527 14 140 --- --- --- --- F8 2157 broad.mit.edu 37 X 154182174 154182174 + Silent SNP G G A TCGA-HC-7232-01A-11D-2114-08 TCGA-HC-7232-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx b82d7dc1-f6b3-4474-93bd-9bfbefe30139 1c5be2f0-5804-4689-903c-022227fc964e g.chrX:154182174G>A ENST00000360256.4 - 12 2096 c.1896C>T c.(1894-1896)atC>atT p.I632I NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 632 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CACTGTGCATGATGTTGGAGG 0.433 8 142 --- --- --- ---