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 PIK3CD 5293 broad.mit.edu 37 1 9776098 9776098 + Missense_Mutation SNP C C T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr1:9776098C>T ENST00000536656.1 + 5 770 c.562C>T c.(562-564)Cgg>Tgg p.R188W PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R188W O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 188 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GCTCCCGAACCGGGCCCTTCT 0.657 6 16 --- --- --- --- NBPF1 55672 broad.mit.edu 37 1 16893756 16893756 + Silent SNP T T C TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr1:16893756T>C ENST00000430580.2 - 25 3644 c.2757A>G c.(2755-2757)gaA>gaG p.E919E NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 919 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGTCAGTCAGTTCAAGATAAC 0.488 26 2935 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152277018 152277018 + Silent SNP G G A TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr1:152277018G>A ENST00000368799.1 - 3 10379 c.10344C>T c.(10342-10344)tcC>tcT p.S3448S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3448 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCGTAGTGGGATCCCTGCC 0.602 Ichthyosis 45 359 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181546961 181546961 + Missense_Mutation SNP C C A TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr1:181546961C>A ENST00000526775.1 + 4 737 c.572C>A c.(571-573)gCt>gAt p.A191D CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 191 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.A191V(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCCTCCGGGCTGTGCGTGTC 0.547 3 14 --- --- --- --- OR2G6 391211 broad.mit.edu 37 1 248685230 248685230 + Missense_Mutation SNP G G A rs148238174 TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr1:248685230G>A ENST00000343414.4 + 1 315 c.283G>A c.(283-285)Ggt>Agt p.G95S NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATGAGCTACGGTGGCTGTGT 0.537 20 60 --- --- --- --- RGPD4 285190 broad.mit.edu 37 2 108487639 108487639 + Missense_Mutation SNP T T G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr2:108487639T>G ENST00000408999.3 + 20 3256 c.3179T>G c.(3178-3180)cTg>cGg p.L1060R RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1060 RanBD1 1. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GAAAAAGTTCTGTATTCACAG 0.393 108 506 --- --- --- --- BCL2L11 10018 broad.mit.edu 37 2 111907651 111907651 + Missense_Mutation SNP T T A rs114585494 byFrequency TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr2:111907651T>A ENST00000393256.3 + 3 698 c.425T>A c.(424-426)aTg>aAg p.M142K BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3 NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1 O43521 B2L11_HUMAN BCL2-like 11 (apoptosis facilitator) 142 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 CCTGCAGATATGCGCCCAGAG 0.448 5 45 --- --- --- --- NBEAL1 65065 broad.mit.edu 37 2 204073899 204073899 + Missense_Mutation SNP A A G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr2:204073899A>G ENST00000449802.1 + 52 7885 c.7552A>G c.(7552-7554)Ata>Gta p.I2518V NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2518 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AACGGTGATTATACATACCAT 0.388 22 85 --- --- --- --- FZD5 7855 broad.mit.edu 37 2 208632400 208632400 + Missense_Mutation SNP C C A TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr2:208632400C>A ENST00000295417.3 - 2 1617 c.1064G>T c.(1063-1065)gGc>gTc p.G355V NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 355 angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) CTGCGCGTAGCCCGCGATGGC 0.662 3 18 --- --- --- --- DOCK10 55619 broad.mit.edu 37 2 225719727 225719727 + Missense_Mutation SNP G G T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr2:225719727G>T ENST00000409592.3 - 16 1936 c.1823C>A c.(1822-1824)cCt>cAt p.P608H DOCK10_ENST00000258390.7_Missense_Mutation_p.P614H Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 614 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CAGGCTTCCAGGAATGGTCTG 0.428 3 16 --- --- --- --- UBA7 7318 broad.mit.edu 37 3 49845862 49845862 + Missense_Mutation SNP A A C TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr3:49845862A>C ENST00000333486.3 - 19 2545 c.2387T>G c.(2386-2388)gTc>gGc p.V796G NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 796 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CACACTCCAGACTTCCAGGGC 0.587 16 48 --- --- --- --- ZNF732 654254 broad.mit.edu 37 4 265718 265718 + Missense_Mutation SNP C C T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr4:265718C>T ENST00000419098.1 - 4 938 c.928G>A c.(928-930)Gaa>Aaa p.E310K NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 TTGCCACATTCCTGACATTTG 0.388 3 15 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79340185 79340185 + Missense_Mutation SNP A A G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr4:79340185A>G ENST00000264895.6 + 33 4948 c.4508A>G c.(4507-4509)tAc>tGc p.Y1503C FRAS1_ENST00000325942.6_Missense_Mutation_p.Y1503C NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1502 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAGATTGTCTACAACATCACT 0.363 6 104 --- --- --- --- TACR3 6870 broad.mit.edu 37 4 104579429 104579429 + Missense_Mutation SNP A A C TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr4:104579429A>C ENST00000304883.2 - 2 820 c.680T>G c.(679-681)aTg>aGg p.M227R NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 227 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) ACGGCCTGGCATGACTTTGGT 0.398 10 48 --- --- --- --- RAB33B 83452 broad.mit.edu 37 4 140375467 140375467 + Missense_Mutation SNP G G C TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr4:140375467G>C ENST00000305626.5 + 1 507 c.118G>C c.(118-120)Ggc>Cgc p.G40R NM_031296.1 NP_112586.1 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 40 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_hematologic(180;0.162) AATCGTGATCGGCGACTCCAA 0.622 16 21 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13871697 13871697 + Missense_Mutation SNP C C T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr5:13871697C>T ENST00000265104.4 - 23 3678 c.3574G>A c.(3574-3576)Gtg>Atg p.V1192M CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1192 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGGAACCCACACAGACATAT 0.368 Kartagener syndrome 43 46 --- --- --- --- GFPT2 9945 broad.mit.edu 37 5 179740918 179740918 + Silent SNP G G A TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr5:179740918G>A ENST00000253778.8 - 14 1489 c.1320C>T c.(1318-1320)cgC>cgT p.R440R NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 440 SIS 1. 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 breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TGAGAGCGCCGCGGTCCTTAC 0.726 12 13 --- --- --- --- TRIM10 10107 broad.mit.edu 37 6 30128486 30128486 + Missense_Mutation SNP G G T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr6:30128486G>T ENST00000449742.2 - 1 225 c.150C>A c.(148-150)gaC>gaA p.D50E TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 50 cytoplasm zinc ion binding ovary(1) 1 ACTCCTCCAGGTCTGGGCCTG 0.612 33 127 --- --- --- --- DNAH11 8701 broad.mit.edu 37 7 21920441 21920441 + Missense_Mutation SNP A A G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr7:21920441A>G ENST00000328843.6 + 76 12369 c.12338A>G c.(12337-12339)tAt>tGt p.Y4113C DNAH11_ENST00000409508.3_Missense_Mutation_p.Y4106C Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4113 AAA 6 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGCCGAAGCTATCCTTTTAAT 0.483 Kartagener syndrome 12 80 --- --- --- --- TNFSF15 9966 broad.mit.edu 37 9 117552950 117552950 + Missense_Mutation SNP C C T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr9:117552950C>T ENST00000374045.4 - 4 651 c.538G>A c.(538-540)Gtc>Atc p.V180I TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 180 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 TTGGTGATGACCACAGTGATG 0.522 11 48 --- --- --- --- HERC4 26091 broad.mit.edu 37 10 69748522 69748522 + Silent SNP T T G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr10:69748522T>G ENST00000395198.3 - 15 1951 c.1704A>C c.(1702-1704)gtA>gtC p.V568V HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.V568V NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 568 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TCAAAAGATGTACCACAACTT 0.328 5 143 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752042 129752042 + Missense_Mutation SNP G G A rs139629776 TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr11:129752042G>A ENST00000446488.3 - 10 1233 c.1130C>T c.(1129-1131)tCc>tTc p.S377F NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 377 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GAAGAAGCTGGAAGATATTTC 0.418 OREG0021512 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 35 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58020538 58020538 + Missense_Mutation SNP T T C TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr12:58020538T>C ENST00000341156.4 - 11 2175 c.1591A>G c.(1591-1593)Acc>Gcc p.T531A B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 531 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CACTGGGAGGTCATGCACTGC 0.592 22 153 --- --- --- --- RAB5C 5878 broad.mit.edu 37 17 40280287 40280287 + Missense_Mutation SNP C C G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr17:40280287C>G ENST00000393860.3 - 5 749 c.433G>C c.(433-435)Gaa>Caa p.E145Q RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.E145Q NM_201434.2 NP_958842.1 P51148 RAB5C_HUMAN RAB5C, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|plasma membrane GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) ACCTGGAATTCCACGGCTCTC 0.622 10 42 --- --- --- --- CDH19 28513 broad.mit.edu 37 18 64235830 64235830 + Missense_Mutation SNP G G A TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr18:64235830G>A ENST00000262150.2 - 3 605 c.313C>T c.(313-315)Ctt>Ttt p.L105F CDH19_ENST00000540086.1_Missense_Mutation_p.L105F NM_021153.3 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 105 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TCTCTATCAAGCTTCTGTATG 0.433 4 78 --- --- --- --- ZNF845 91664 broad.mit.edu 37 19 53854634 53854634 + Missense_Mutation SNP A A T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr19:53854634A>T ENST00000458035.1 + 4 823 c.706A>T c.(706-708)Atc>Ttc p.I236F ZNF845_ENST00000595091.1_Missense_Mutation_p.I236F NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACATCAGATAATCCATTTAGG 0.373 7 57 --- --- --- --- FAM83F 113828 broad.mit.edu 37 22 40417338 40417338 + Missense_Mutation SNP T T C TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr22:40417338T>C ENST00000333407.6 + 4 918 c.824T>C c.(823-825)cTc>cCc p.L275P FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 CTCCTCCTGCTCCTGACAGGA 0.602 14 148 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44945222 44945222 + Silent SNP A A G TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chrX:44945222A>G ENST00000377967.4 + 24 3587 c.3546A>G c.(3544-3546)gaA>gaG p.E1182E KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000536777.1_Silent_p.E1137E NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1182 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACTTCTGTGAAAAGTAGGTTT 0.358 """D, N, F, S""" """renal, oesophageal SCC, MM""" 9 35 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179425080 179425081 + Frame_Shift_Ins INS - - T TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr2:179425080_179425081insT ENST00000589042.1 - 326 86002_86003 c.85778_85779insA c.(85777-85779)aatfs p.N28593fs TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.N26952fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26952 Fibronectin type-III 108. 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) ATCTTAGGCTATTTTTCTCTCG 0.386 24 24 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71555199 71555210 + In_Frame_Del DEL TACAACCTCTAC TACAACCTCTAC - TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr4:71555199_71555210delTACAACCTCTAC ENST00000254803.2 + 1 1004_1015 c.805_816delTACAACCTCTAC c.(805-816)tacaacctctacdel p.YNLY269del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 269 brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) GAGGACCAAGTACAACCTCTACTTGAATTATT 0.443 25 156 --- --- --- --- SLC22A3 6581 broad.mit.edu 37 6 160857879 160857879 + Frame_Shift_Del DEL G G - TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr6:160857879delG ENST00000392145.1 + 6 1070 c.1043delG c.(1042-1044)aggfs p.R348fs SLC22A3_ENST00000275300.2_Frame_Shift_Del_p.R348fs O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 348 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) CCCCAAATGAGGAAATGCACA 0.353 13 63 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625250 66625251 + Frame_Shift_Del DEL GT GT - TCGA-YL-A8SQ-01B-11D-A377-08 TCGA-YL-A8SQ-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbf89ede-4235-406f-a233-efba91664605 41fda2e7-df7b-464a-b1d4-9aac99195bd9 g.chr11:66625250_66625251delGT ENST00000309602.4 + 1 278_279 c.35_36delGT c.(34-36)agtfs p.S12fs LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 12 integral to membrane breast(1)|lung(1)|prostate(1) 3 CTGCTGGCCAGTGGAGCGGCCG 0.713 12 20 --- --- --- ---