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 TEKT2 27285 broad.mit.edu 37 1 36553404 36553404 + Missense_Mutation SNP G G A TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr1:36553404G>A ENST00000207457.3 + 9 1202 c.1075G>A c.(1075-1077)Gca>Aca p.A359T NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 359 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCTGGCGCAAGCACAGTAGGT 0.632 4 31 --- --- --- --- NES 10763 broad.mit.edu 37 1 156647011 156647011 + Missense_Mutation SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr1:156647011T>C ENST00000368223.3 - 1 178 c.46A>G c.(46-48)Aat>Gat p.N16D NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 16 Coil 1A.|Rod. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGCGCCGATTGAGCTCCCAC 0.672 5 28 --- --- --- --- CD1A 909 broad.mit.edu 37 1 158226847 158226847 + Silent SNP C C T TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr1:158226847C>T ENST00000289429.5 + 4 1409 c.876C>T c.(874-876)ctC>ctT p.L292L NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 292 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ACATCGTCCTCTACTGGGGTG 0.567 5 60 --- --- --- --- ATAD2B 54454 broad.mit.edu 37 2 24011409 24011409 + Missense_Mutation SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr2:24011409T>C ENST00000238789.5 - 20 3092 c.2749A>G c.(2749-2751)Atg>Gtg p.M917V ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 917 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGGAGCCATTGATGCCTGA 0.363 12 48 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179435785 179435785 + Missense_Mutation SNP A A C rs3731743 TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr2:179435785A>C ENST00000589042.1 - 326 75298 c.75074T>G c.(75073-75075)cTt>cGt p.L25025R TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23384 Ig-like 123. 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) CTTCCACTGAAGAGTCACAGA 0.468 3 170 --- --- --- --- CADPS 8618 broad.mit.edu 37 3 62478078 62478078 + Missense_Mutation SNP G G A TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr3:62478078G>A ENST00000383710.4 - 20 3120 c.2771C>T c.(2770-2772)aCg>aTg p.T924M CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 924 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding p.T934M(1)|p.T924M(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGACAGGAACGTCTCCGCATG 0.448 7 510 --- --- --- --- TIFA 92610 broad.mit.edu 37 4 113199473 113199473 + Missense_Mutation SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr4:113199473T>C ENST00000361717.3 - 2 381 c.100A>G c.(100-102)Ata>Gta p.I34V TIFA_ENST00000500655.2_Missense_Mutation_p.I34V NM_052864.2 NP_443096.1 Q96CG3 TIFA_HUMAN TRAF-interacting protein with forkhead-associated domain protein binding breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1) 6 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00172) TTAAAACTTATTGACTGAAAT 0.428 46 121 --- --- --- --- TENM2 57451 broad.mit.edu 37 5 167673770 167673770 + Silent SNP C C A TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr5:167673770C>A ENST00000519204.1 + 26 5581 c.5463C>A c.(5461-5463)gtC>gtA p.V1821V TENM2_ENST00000520394.1_Silent_p.V1703V|TENM2_ENST00000545108.1_Silent_p.V1941V|TENM2_ENST00000403607.2_Silent_p.V1766V|TENM2_ENST00000518659.1_Silent_p.V1942V teneurin transmembrane protein 2 AGTCCATGGTCCTCCTGCTTC 0.502 95 334 --- --- --- --- LPA 4018 broad.mit.edu 37 6 161020597 161020597 + Silent SNP A A G TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr6:161020597A>G ENST00000447678.1 - 21 3342 c.3222T>C c.(3220-3222)acT>acC p.T1074T LPA_ENST00000316300.5_Silent_p.T1074T NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3582 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AAGCTTGGCAAGTTCTTCCTG 0.498 5 516 --- --- --- --- MTERFD1 51001 broad.mit.edu 37 8 97269341 97269341 + Splice_Site SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr8:97269341T>C ENST00000523821.1 - 3 455 c.336A>G c.(334-336)gaA>gaG p.E112E MTERFD1_ENST00000287025.3_Splice_Site_p.E112E|MTERFD1_ENST00000522822.1_5'UTR Q96E29 MTER1_HUMAN MTERF domain containing 1 112 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) ATTCATCCAGTTCTTTGAAAG 0.408 4 77 --- --- --- --- IFNA4 3441 broad.mit.edu 37 9 21186979 21186979 + Silent SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr9:21186979T>C ENST00000421715.1 - 1 619 c.552A>G c.(550-552)agA>agG p.R184R NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 184 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TCCTCCTTAATCTTTTTTGCA 0.388 7 197 --- --- --- --- TDRD1 56165 broad.mit.edu 37 10 115971690 115971690 + Missense_Mutation SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr10:115971690T>C ENST00000251864.2 + 14 1879 c.1726T>C c.(1726-1728)Tat>Cat p.Y576H TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 576 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) ACTGGTCGGATATGTAGATTA 0.393 5 81 --- --- --- --- MFSD5 84975 broad.mit.edu 37 12 53647321 53647321 + Missense_Mutation SNP G G C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr12:53647321G>C ENST00000534842.1 + 2 1170 c.1023G>C c.(1021-1023)agG>agC p.R341S MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 234 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CCTTCTCAAGGACCTGTGCTG 0.602 12 74 --- --- --- --- SRGAP1 57522 broad.mit.edu 37 12 64536384 64536384 + Missense_Mutation SNP A A G TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr12:64536384A>G ENST00000355086.3 + 22 3714 c.3190A>G c.(3190-3192)Aaa>Gaa p.K1064E SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E|SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 1064 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGTTCTTCCAAAAACAAATCC 0.522 4 90 --- --- --- --- MYO1H 283446 broad.mit.edu 37 12 109834250 109834250 + Missense_Mutation SNP C C G TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr12:109834250C>G ENST00000310903.5 + 4 410 c.304C>G c.(304-306)Ctc>Gtc p.L102V MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CCATTTCATCCTCATTTCTGG 0.458 4 40 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25449418 25449418 + RNA SNP C C T TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr15:25449418C>T ENST00000424208.1 + 0 2310 SNHG14_ENST00000424333.1_RNA NR_003305.1 CAGGCCCTTCCTGTTGCCCTA 0.622 5 30 --- --- --- --- OR3A1 4994 broad.mit.edu 37 17 3195699 3195699 + Missense_Mutation SNP T T C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr17:3195699T>C ENST00000323404.1 - 1 177 c.178A>G c.(178-180)Acc>Gcc p.T60A RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TACATGGGGGTGTGGAGTTTG 0.562 3 42 --- --- --- --- LOC100289333 100289333 broad.mit.edu 37 19 12318166 12318166 + RNA SNP A A G TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr19:12318166A>G ENST00000426044.1 + 0 127 GCCTTTGAGGATGTGGCAGTG 0.463 14 54 --- --- --- --- KLK14 43847 broad.mit.edu 37 19 51582742 51582742 + Nonsense_Mutation SNP G G A TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr19:51582742G>A ENST00000391802.1 - 5 696 c.478C>T c.(478-480)Cga>Tga p.R160* KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160* NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 160 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CCTGACACTCGGCAGGAGGTC 0.662 4 42 --- --- --- --- TFIP11 24144 broad.mit.edu 37 22 26899663 26899663 + Missense_Mutation SNP G G A TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr22:26899663G>A ENST00000407690.1 - 7 900 c.617C>T c.(616-618)cCt>cTt p.P206L TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L NM_012143.2 NP_036275.1 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 206 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 GTCAACCACAGGGAAGTCTTG 0.493 28 61 --- --- --- --- KDELR3 11015 broad.mit.edu 37 22 38877382 38877382 + Missense_Mutation SNP G G A TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr22:38877382G>A ENST00000216014.4 + 4 689 c.517G>A c.(517-519)Gag>Aag p.E173K KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K|KDELR3_ENST00000471268.1_3'UTR NM_006855.2 NP_006846.1 O43731 ERD23_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 173 protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 Melanoma(58;0.0286) GTACCAGACTGAGAATTTCTA 0.478 3 106 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54185950 54185950 + Missense_Mutation SNP A A G TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chrX:54185950A>G ENST00000375180.2 - 2 855 c.799T>C c.(799-801)Tac>Cac p.Y267H FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 267 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GGAATATTGTAGAGAGCATAC 0.483 3 45 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70349255 70349255 + Missense_Mutation SNP G G C TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chrX:70349255G>C ENST00000333646.6 + 26 3866 c.3667G>C c.(3667-3669)Gtt>Ctt p.V1223L MED12_ENST00000374080.3_Missense_Mutation_p.V1223L|MED12_ENST00000374102.1_Missense_Mutation_p.V1223L NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1223 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CGTGTTTGCTGTTCTCAAGGC 0.572 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 20 --- --- --- --- MIR325 442899 broad.mit.edu 37 X 76225829 76225829 + RNA SNP C C T TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chrX:76225829C>T ENST00000385260.1 - 0 97 NR_029905.1 ctatgtagtcccagagcctag 0.398 18 7 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314292 135314292 + Missense_Mutation SNP G G T TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chrX:135314292G>T ENST00000316077.9 - 8 1044 c.824C>A c.(823-825)cCc>cAc p.P275H MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 275 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TGTCGACATGGGAAACATAAC 0.463 3 109 --- --- --- --- SLC4A7 9497 broad.mit.edu 37 3 27472797 27472798 + Frame_Shift_Del DEL AA AA - TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr3:27472797_27472798delAA ENST00000295736.5 - 7 1184_1185 c.1114_1115delTT c.(1114-1116)ttafs p.L372fs SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000455077.1_Intron NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 372 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GCCTGGAGTTAAGTCAACATTT 0.455 20 93 --- --- --- --- SLC9A3 6550 broad.mit.edu 37 5 480012 480012 + Frame_Shift_Del DEL T T - TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr5:480012delT ENST00000264938.3 - 10 1595 c.1586delA c.(1585-1587)gacfs p.D529fs CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 529 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CAGGATCCGGTCTCGAGACTT 0.607 9 130 --- --- --- --- ARHGEF5 7984 broad.mit.edu 37 7 144070332 144070332 + Frame_Shift_Del DEL A A - TCGA-G9-7519-01A-11D-2260-08 TCGA-G9-7519-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 81dd038c-ba90-481c-90dc-c89b3048fc99 91e00401-e16e-4067-ae4d-28fce0a0425e g.chr7:144070332delA ENST00000056217.5 + 10 4269 c.4095delA c.(4093-4095)acafs p.T1365fs ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 1365 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) TGCGACGGACAGAGGAACTAA 0.522 18 201 --- --- --- ---