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 KIF17 57576 broad.mit.edu 37 1 21009257 21009257 + Silent SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:21009257G>A ENST00000247986.2 - 11 2662 c.2352C>T c.(2350-2352)gcC>gcT p.A784A KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000400463.3_Silent_p.A784A Q9P2E2 KIF17_HUMAN kinesin family member 17 784 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) AGTTCTGCAGGGCAGCCACCA 0.607 14 42 --- --- --- --- HSPG2 3339 broad.mit.edu 37 1 22168751 22168751 + Silent SNP G G T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:22168751G>T ENST00000374695.3 - 68 9112 c.9033C>A c.(9031-9033)ccC>ccA p.P3011P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3011 Ig-like C2-type 15. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACCCCTCACTGGGCGGGACGG 0.652 4 54 --- --- --- --- KCNA3 3738 broad.mit.edu 37 1 111217006 111217006 + Silent SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:111217006C>T ENST00000369769.2 - 1 649 c.426G>A c.(424-426)ccG>ccA p.P142P NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 142 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CGTTGCGGAGCGGGTCGAAGT 0.652 6 110 --- --- --- --- AP4B1 10717 broad.mit.edu 37 1 114442579 114442579 + Missense_Mutation SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:114442579C>T ENST00000369569.1 - 5 1341 c.1061G>A c.(1060-1062)gGg>gAg p.G354E AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 354 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGTGCAGTACCCTCGAAGCTC 0.527 145 208 --- --- --- --- ILDR2 387597 broad.mit.edu 37 1 166890544 166890544 + Missense_Mutation SNP G G C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:166890544G>C ENST00000271417.3 - 9 1339 c.1284C>G c.(1282-1284)gaC>gaG p.D428E ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 428 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 CCGCCAGCTCGTCCATGGAAA 0.711 5 10 --- --- --- --- MROH9 80133 broad.mit.edu 37 1 170959063 170959063 + Missense_Mutation SNP T T C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:170959063T>C ENST00000367759.4 + 11 1101 c.947T>C c.(946-948)tTg>tCg p.L316S MROH9_ENST00000367758.3_Missense_Mutation_p.L316S NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 GATGTTATGTTGCAGGTTATC 0.438 41 49 --- --- --- --- USH2A 7399 broad.mit.edu 37 1 216166392 216166392 + Missense_Mutation SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr1:216166392C>T ENST00000366943.2 - 35 7161 c.6775G>A c.(6775-6777)Gtc>Atc p.V2259I USH2A_ENST00000307340.3_Missense_Mutation_p.V2259I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2259 Fibronectin type-III 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.V2259I(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTCCAGGAGACATTAAAGGAG 0.463 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 107 181 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38158019 38158019 + Missense_Mutation SNP G G C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr3:38158019G>C ENST00000308059.6 + 28 3953 c.3932G>C c.(3931-3933)gGg>gCg p.G1311A DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1311 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GTGTTTTATGGGCCACCTTTC 0.612 31 27 --- --- --- --- SCAND3 114821 broad.mit.edu 37 6 28554185 28554185 + Silent SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr6:28554185G>A ENST00000452236.2 - 1 927 c.310C>T c.(310-312)Ctg>Ttg p.L104L SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 104 SCAN box. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 TCCTCAGGCAGGATGGTCAGG 0.537 5 132 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66204918 66204918 + Missense_Mutation SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr6:66204918C>T ENST00000503581.1 - 4 923 c.386G>A c.(385-387)aGa>aAa p.R129K EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 129 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TCCTTTTAGTCTGCAGCCAAA 0.393 12 16 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87968799 87968799 + Missense_Mutation SNP G G T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr6:87968799G>T ENST00000369577.3 + 8 5495 c.5452G>T c.(5452-5454)Gtc>Ttc p.V1818F ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1818 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CTTTATAAGTGTCATGCCAAC 0.318 5 13 --- --- --- --- DDO 8528 broad.mit.edu 37 6 110726001 110726001 + Missense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr6:110726001G>A ENST00000368924.3 - 4 533 c.518C>T c.(517-519)gCc>gTc p.A173V DDO_ENST00000368923.3_Intron NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 145 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) CGGGAGGTAGGCAGGGCATTC 0.433 20 3 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24892244 24892244 + Missense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr7:24892244G>A ENST00000313367.2 - 11 1488 c.1037C>T c.(1036-1038)aCt>aTt p.T346I OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 346 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TGACCTTAAAGTGAAGTAAAC 0.368 10 57 --- --- --- --- GHRHR 2692 broad.mit.edu 37 7 31016135 31016135 + Missense_Mutation SNP A A G TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr7:31016135A>G ENST00000409904.3 + 8 1132 c.874A>G c.(874-876)Atc>Gtc p.I292V GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 356 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) TGGCCTGGGCATCCGCCTCCC 0.572 11 21 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33296923 33296923 + Missense_Mutation SNP G G T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr7:33296923G>T ENST00000242067.6 + 6 1039 c.518G>T c.(517-519)aGa>aTa p.R173I BBS9_ENST00000350941.3_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 173 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) GCTTTTGGAAGATTTCTCCCT 0.428 Bardet-Biedl syndrome 39 69 --- --- --- --- DOCK4 9732 broad.mit.edu 37 7 111629104 111629104 + Missense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr7:111629104G>A ENST00000428084.1 - 6 702 c.430C>T c.(430-432)Cgc>Tgc p.R144C DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 144 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.R132C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GTAATGTGGCGCTTCACGTCC 0.572 13 17 --- --- --- --- WBP11 51729 broad.mit.edu 37 12 14940329 14940329 + Silent SNP C C A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr12:14940329C>A ENST00000261167.2 - 12 1829 c.1596G>T c.(1594-1596)ggG>ggT p.G532G NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 532 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 CACTTAAAACCCCAGGGTTTG 0.592 129 156 --- --- --- --- ART4 420 broad.mit.edu 37 12 14993733 14993733 + Missense_Mutation SNP T T C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr12:14993733T>C ENST00000228936.4 - 2 880 c.499A>G c.(499-501)Atc>Gtc p.I167V C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 167 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 AGCAGCTGGATTGCTGAGGTG 0.473 29 56 --- --- --- --- OR10P1 121130 broad.mit.edu 37 12 56031259 56031259 + Missense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr12:56031259G>A ENST00000309675.2 + 1 616 c.584G>A c.(583-585)aGg>aAg p.R195K NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 GGGAAGCACAGGAGCGAGATC 0.532 28 60 --- --- --- --- HAUS4 54930 broad.mit.edu 37 14 23417142 23417142 + Missense_Mutation SNP C C A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr14:23417142C>A ENST00000206474.7 - 7 895 c.643G>T c.(643-645)Gat>Tat p.D215Y RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 215 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1) 14 CTCTTGGCATCCTGGCACTGC 0.552 27 38 --- --- --- --- SLC28A2 9153 broad.mit.edu 37 15 45555257 45555257 + Splice_Site SNP A A T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr15:45555257A>T ENST00000347644.3 + 5 327 c.e5-1 CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TTCTCTTTTTAGCCTATGCTG 0.473 13 52 --- --- --- --- CNOT1 23019 broad.mit.edu 37 16 58633154 58633154 + Nonsense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr16:58633154G>A ENST00000317147.5 - 2 420 c.88C>T c.(88-90)Cag>Tag p.Q30* CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30* NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 30 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGTATTTCCTGCTGGCTGGCT 0.448 6 99 --- --- --- --- EXOC3L1 283849 broad.mit.edu 37 16 67220718 67220718 + Missense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr16:67220718G>A ENST00000314586.6 - 7 1468 c.1228C>T c.(1228-1230)Ccc>Tcc p.P410S NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 410 exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 TCTGTGTTGGGCCCATGCTCC 0.622 36 51 --- --- --- --- HPR 3250 broad.mit.edu 37 16 72108237 72108237 + Missense_Mutation SNP T T C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr16:72108237T>C ENST00000540303.2 + 3 178 c.146T>C c.(145-147)tTt>tCt p.F49S HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 49 Sushi. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GAGCACTTGTTTCGCTACCAG 0.483 31 33 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr17:47696426A>C ENST00000393331.3 - 7 867 c.397T>G c.(397-399)Ttc>Gtc p.F133V SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448 Prostate(2;0.17) 69 93 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54760504 54760504 + Missense_Mutation SNP G G A TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chr19:54760504G>A ENST00000450632.1 - 3 280 c.203C>T c.(202-204)gCc>gTc p.A68V LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 68 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTCTTCCGGGCCCATGGGAG 0.607 39 156 --- --- --- --- ZDHHC9 51114 broad.mit.edu 37 X 128944944 128944944 + Silent SNP C C T TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba2e9eb3-d530-49c4-ae78-d3069862fc71 4d2a435f-5ae8-4a20-be13-cf9208534cd2 g.chrX:128944944C>T ENST00000357166.6 - 10 1306 c.915G>A c.(913-915)gaG>gaA p.E305E ZDHHC9_ENST00000371064.3_Silent_p.E305E NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 305 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 TTCCACTTTCCTCCAGTGGCA 0.517 10 4 --- --- --- ---