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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SDF4 51150 broad.mit.edu 37 1 1158663 1158663 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:1158663C>T uc001adh.3 - 4 867 c.538G>A c.(538-540)GCC>ACC p.A180T SDF4_uc001adg.2_5'Flank|SDF4_uc001adi.3_Missense_Mutation_p.A180T|SDF4_uc009vjv.2_Missense_Mutation_p.A58T|SDF4_uc009vjw.2_RNA|SDF4_uc001adj.1_Missense_Mutation_p.A58T NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 180 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AGCCTGATGGCGTCGGCAACC 0.502 NA 20 111 0 0 0.000375601 0 0 RUNX3 864 broad.mit.edu 37 1 25229017 25229017 + Missense_Mutation SNP C C A rs149811022 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:25229017C>A uc001bjq.2 - 5 1255 c.844G>T c.(844-846)GCC>TCC p.A282S RUNX3_uc010oen.1_Missense_Mutation_p.A229S|RUNX3_uc009vrj.2_Missense_Mutation_p.A296S|RUNX3_uc001bjr.2_Missense_Mutation_p.A296S|RUNX3_uc001bjs.2_RNA NM_004350 NP_004341 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 2 282 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GAGGGCGTGGCGCTGTAGGGG 0.692 NA 24 66 4.72057e-08 7.69108e-07 0.000586117 1 0 RCSD1 92241 broad.mit.edu 37 1 167654689 167654689 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:167654689C>T uc001gem.2 + 3 327 c.140C>T c.(139-141)CCG>CTG p.P47L RCSD1_uc010pli.1_Intron NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 47 ovary(2)|central_nervous_system(2)|skin(1) 5 all_hematologic(923;0.215) CGAAGGAAACCGCCCTGTTCC 0.577 NA 7 46 0 0 8.12818e-05 0 0 TNR 7143 broad.mit.edu 37 1 175362964 175362964 + Silent SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:175362964C>T uc001gkp.1 - 4 1389 c.1308G>A c.(1306-1308)GAG>GAA p.E436E TNR_uc009wwu.1_Silent_p.E436E|TNR_uc010pmz.1_3'UTR NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 436 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ATGAGAAGGGCTCCCACTGCA 0.463 NA 15 173 0 0 0.000422831 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202391825 202391825 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:202391825C>T uc001gya.1 + 3 644 c.500C>T c.(499-501)CCA>CTA p.P167L PPP1R12B_uc001gxy.2_Missense_Mutation_p.P167L|PPP1R12B_uc009xad.1_Intron|PPP1R12B_uc009xae.1_Missense_Mutation_p.P167L|PPP1R12B_uc001gxz.1_Missense_Mutation_p.P167L NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 167 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAGAAGAGCCAGCCATGAAG 0.458 NA 13 61 0 0 0.000219431 0 0 OR14C36 127066 broad.mit.edu 37 1 248512522 248512522 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr1:248512522G>A uc010pzl.1 + 1 446 c.446G>A c.(445-447)AGT>AAT p.S149N NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TCCCTACTCAGTGGTCTTGTC 0.527 NA 5 66 0 0 0.000602214 0 0 POLR3A 11128 broad.mit.edu 37 10 79779004 79779004 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:79779004T>C uc001jzn.2 - 9 1299 c.1205A>G c.(1204-1206)AAT>AGT p.N402S NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 402 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCTCAAGAAATTGATGTTTGC 0.383 NA 9 50 0 0 0.000274275 0 0 DMBT1 1755 broad.mit.edu 37 10 124339221 124339221 + Silent SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124339221T>C uc001lgk.1 + 10 913 c.807T>C c.(805-807)AAT>AAC p.N269N DMBT1_uc001lgl.1_Silent_p.N269N|DMBT1_uc001lgm.1_Silent_p.N269N|DMBT1_uc009xzz.1_Silent_p.N269N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.N121N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 269 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGATGCCAATGTGGTCTGCA 0.607 Ovarian(182;93 2026 18125 22222 38972) NA 20 289 0 0 0.000375601 0 0 DMBT1 1755 broad.mit.edu 37 10 124339277 124339277 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124339277A>G uc001lgk.1 + 10 969 c.863A>G c.(862-864)CAG>CGG p.Q288R DMBT1_uc001lgl.1_Missense_Mutation_p.Q288R|DMBT1_uc001lgm.1_Missense_Mutation_p.Q288R|DMBT1_uc009xzz.1_Missense_Mutation_p.Q288R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.Q140R NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 288 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAAATGCCCAGTTTGGCCAG 0.607 Ovarian(182;93 2026 18125 22222 38972) NA 7 172 0 0 0.000442599 0 0 DMBT1 1755 broad.mit.edu 37 10 124339284 124339284 + Silent SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124339284C>T uc001lgk.1 + 10 976 c.870C>T c.(868-870)GGC>GGT p.G290G DMBT1_uc001lgl.1_Silent_p.G290G|DMBT1_uc001lgm.1_Silent_p.G290G|DMBT1_uc009xzz.1_Silent_p.G290G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.G142G NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 290 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCAGTTTGGCCAGGGCTCAG 0.597 Ovarian(182;93 2026 18125 22222 38972) NA 7 149 0 0 0.000274275 0 0 DMBT1 1755 broad.mit.edu 37 10 124377716 124377716 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr10:124377716A>G uc001lgk.1 + 38 4794 c.4688A>G c.(4687-4689)CAG>CGG p.Q1563R DMBT1_uc001lgl.1_Missense_Mutation_p.Q1553R|DMBT1_uc001lgm.1_Missense_Mutation_p.Q935R|DMBT1_uc009xzz.1_Missense_Mutation_p.Q1563R|DMBT1_uc010qtx.1_Missense_Mutation_p.Q414R|DMBT1_uc009yab.1_Missense_Mutation_p.Q266R|DMBT1_uc009yac.1_5'Flank NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1563 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAAATGCCCAGTTTGGCCAG 0.612 Ovarian(182;93 2026 18125 22222 38972) NA 5 229 0 0 0.000157383 0 0 OR52E6 390078 broad.mit.edu 37 11 5862669 5862669 + Silent SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:5862669C>T uc010qzq.1 - 1 459 c.459G>A c.(457-459)AGG>AGA p.R153R TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTACAAGCTCCTCAGGACAG 0.483 NA 7 204 0 0 8.12818e-05 0 0 LRP4 4038 broad.mit.edu 37 11 46880755 46880755 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:46880755G>A uc001ndn.3 - 38 5643 c.5497C>T c.(5497-5499)CGG>TGG p.R1833W uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.R75W NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1833 Cytoplasmic (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) AGGCCCCCCCGTGAGCTTCGC 0.562 NA 22 68 0 0 0.000295444 0 0 LOC440040 440040 broad.mit.edu 37 11 49597962 49597962 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:49597962G>A uc010rhy.1 + 2 553 c.75G>A c.(73-75)AGG>AGA p.R25R LOC440040_uc009ymb.2_Silent_p.R25R NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 TTCATGAGAGGAAGTGTGGGG 0.522 NA 4 23 0 0 0.000602214 0 0 PIWIL4 143689 broad.mit.edu 37 11 94316616 94316616 + Silent SNP C C A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr11:94316616C>A uc001pfa.2 + 5 727 c.516C>A c.(514-516)GTC>GTA p.V172V PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 172 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTTCCCAGGTCACAGAGTTGT 0.418 NA 32 186 1.80694e-10 3.0176e-09 0.000279167 1 0 Unknown 0 broad.mit.edu 37 12 31307356 31307356 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:31307356T>C uc010sjy.1 - 7 724 c.724A>G c.(724-726)AAA>GAA p.K242E RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA ATTTGGGTTTTCCCTTGCACA 0.383 NA 4 18 0 0 0.00024832 0 0 CDK4 1019 broad.mit.edu 37 12 58145430 58145430 + Missense_Mutation SNP C C A rs104894340 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:58145430C>A uc001spv.2 - 2 298 c.71G>T c.(70-72)CGT>CTT p.R24L CDK4_uc010ssb.1_5'UTR|CDK4_uc001spw.2_RNA|uc010ssc.1_RNA NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 24 Protein kinase. R -> H (in CMM3). cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GTGGGGATCACGGGCCTTGTA 0.557 NA Mis melanoma Hereditary_Melanoma 13 29 4.3838e-07 6.97233e-06 0.000151284 1 0 SVOP 55530 broad.mit.edu 37 12 109309580 109309580 + Silent SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:109309580G>C uc010sxh.1 - 14 1591 c.1419C>G c.(1417-1419)CTC>CTG p.L473L NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 473 Helical; (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 ACGGAGTGATGAGAGCACCCA 0.557 NA 4 14 0 0 0.000602214 0 0 HVCN1 84329 broad.mit.edu 37 12 111099246 111099246 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr12:111099246G>A uc001trs.1 - 4 194 c.29C>T c.(28-30)ACC>ATC p.T10I HVCN1_uc001trq.1_Missense_Mutation_p.T10I|HVCN1_uc001trt.1_Missense_Mutation_p.T10I|HVCN1_uc010syd.1_5'UTR NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 10 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 GGCCCTGCGGGTGACTGCCTA 0.602 NA 5 25 0 0 0.000602214 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545013 60545013 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr13:60545013G>C uc001vht.2 - 16 2151 c.1932C>G c.(1930-1932)ATC>ATG p.I644M DIAPH3_uc001vhu.2_Missense_Mutation_p.I381M|DIAPH3_uc001vhv.2_Missense_Mutation_p.I222M NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 644 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTCTCATGCTGATTTCAGGTT 0.338 NA 5 40 0 0 8.12818e-05 0 0 IPO4 79711 broad.mit.edu 37 14 24652208 24652208 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:24652208C>T uc001wmv.1 - 23 2526 c.2395G>A c.(2395-2397)GTG>ATG p.V799M IPO4_uc001wmt.1_Missense_Mutation_p.V277M|IPO4_uc001wmu.2_Missense_Mutation_p.V461M|IPO4_uc001wmx.1_Missense_Mutation_p.V663M|IPO4_uc001wmy.1_Missense_Mutation_p.V663M|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.V799M NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 799 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) GCCTTGAGCACGCCACAGAGC 0.677 NA 15 56 0 0 0.000219431 0 0 G2E3 55632 broad.mit.edu 37 14 31077238 31077238 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:31077238A>G uc001wqk.2 + 12 1617 c.1463A>G c.(1462-1464)GAT>GGT p.D488G G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Missense_Mutation_p.D442G NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 488 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 ATTTTAGATGATGTTTCAGAC 0.343 NA 10 106 0 0 0.000151284 0 0 GNPNAT1 64841 broad.mit.edu 37 14 53250176 53250176 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:53250176G>C uc001xab.2 - 3 437 c.182C>G c.(181-183)ACA>AGA p.T61R NM_198066 NP_932332 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 61 N-acetyltransferase. Substrate. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity 0 Breast(41;0.176) TCCAGTCTCTGTTAGCTGACC 0.318 NA 3 95 0 0 0.000602214 0 0 TRMT5 57570 broad.mit.edu 37 14 61446337 61446337 + Silent SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:61446337T>C uc001xff.3 - 2 370 c.279A>G c.(277-279)ACA>ACG p.T93T SLC38A6_uc001xfg.1_5'Flank|SLC38A6_uc001xfh.1_5'Flank|SLC38A6_uc001xfi.2_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.2_5'Flank|SLC38A6_uc010trz.1_5'Flank NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 93 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GAATGTTGACTGTCTTTTTAA 0.423 NA 15 192 0 0 0.000566183 0 0 ATG2B 55102 broad.mit.edu 37 14 96811066 96811066 + Missense_Mutation SNP A A C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr14:96811066A>C uc001yfi.2 - 4 871 c.506T>G c.(505-507)ATA>AGA p.I169R NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 169 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AACAGTATCTATAAAAGTGAC 0.294 NA 6 32 0 0 0.000274275 0 0 RAB40C 57799 broad.mit.edu 37 16 675984 675984 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:675984C>T uc002chr.2 + 5 544 c.428C>T c.(427-429)GCG>GTG p.A143V RAB40C_uc002chq.2_Missense_Mutation_p.A124V NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 143 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) CAGGCCCGCGCGTACGCAGAG 0.617 Melanoma(123;1631 1690 28262 44104 44957) NA 11 31 0 0 6.40141e-05 0 0 CPPED1 55313 broad.mit.edu 37 16 12875100 12875100 + Missense_Mutation SNP C C G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:12875100C>G uc002dca.3 - 2 342 c.231G>C c.(229-231)AAG>AAC p.K77N CPPED1_uc002dcb.3_Missense_Mutation_p.K77N NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 77 K -> E (in Ref. 2; BAA92034). hydrolase activity|metal ion binding 0 TGGGGTTCAGCTTGTTGATGG 0.562 NA 3 41 0 0 6.4e-05 0 0 CACNG3 10368 broad.mit.edu 37 16 24268206 24268206 + Missense_Mutation SNP C C G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:24268206C>G uc002dmf.2 + 1 1331 c.131C>G c.(130-132)TCT>TGT p.S44C NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 44 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) AGGACTAAATCTACAAGTGAT 0.453 NA 3 86 0 0 0.00024832 0 0 TUFM 7284 broad.mit.edu 37 16 28855408 28855408 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:28855408G>A uc002drh.2 - 8 1076 c.937C>T c.(937-939)CAC>TAC p.H313Y uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 310 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 AGGCTCTTGTGGAACATCTCA 0.622 NA 11 62 0 0 0.000673444 0 0 CDYL2 124359 broad.mit.edu 37 16 80718848 80718848 + Nonsense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr16:80718848G>C uc002ffs.2 - 2 308 c.203C>G c.(202-204)TCA>TGA p.S68* NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 68 nucleus catalytic activity|protein binding central_nervous_system(1) 1 CTGCTTCCCTGACTTGATCCT 0.547 NA 22 74 0 0 0.000586117 0 0 FLOT2 2319 broad.mit.edu 37 17 27208290 27208290 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr17:27208290G>A uc002hdc.2 - 9 1141 c.1018C>T c.(1018-1020)CGG>TGG p.R340W NM_004475 NP_004466 Q14254 FLOT2_HUMAN flotillin 2 340 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AGCTTCATCCGCTCAGCCTCT 0.612 NA 9 39 0 0 0.000673444 0 0 Unknown 0 broad.mit.edu 37 17 43617325 43617325 + Missense_Mutation SNP A A T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr17:43617325A>T uc002ijh.2 - 4 1181 c.1060T>A c.(1060-1062)TTA>ATA p.L354I uc010wjv.1_RNA Homo sapiens cDNA FLJ45049 fis, clone BRAWH3022347. NA TTGCAGGATAAATCTCTAGGA 0.264 NA 6 88 0 0 8.12818e-05 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655855 48655855 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr17:48655855A>G uc002irk.1 + 9 2603 c.2231A>G c.(2230-2232)TAC>TGC p.Y744C CACNA1G_uc002iri.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irj.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irl.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irm.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irn.1_Missense_Mutation_p.Y744C|CACNA1G_uc002iro.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irp.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irq.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irr.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irs.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irt.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irv.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irw.1_Missense_Mutation_p.Y744C|CACNA1G_uc002iru.1_Missense_Mutation_p.Y744C|CACNA1G_uc002irx.1_Missense_Mutation_p.Y657C|CACNA1G_uc002iry.1_Missense_Mutation_p.Y657C|CACNA1G_uc002irz.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isa.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isb.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isc.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isd.1_Missense_Mutation_p.Y657C|CACNA1G_uc002ise.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isf.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isg.1_Missense_Mutation_p.Y657C|CACNA1G_uc002ish.1_Missense_Mutation_p.Y657C|CACNA1G_uc002isi.1_Missense_Mutation_p.Y657C NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 744 Helical; Name=S1 of repeat II; (Potential).|II. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GACAGCAAGTACTTTGGCCGG 0.592 NA 6 66 0 0 3.59834e-05 0 0 DSG3 1830 broad.mit.edu 37 18 29044158 29044158 + Nonsense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr18:29044158C>T uc002kws.2 + 9 1193 c.1084C>T c.(1084-1086)CGA>TGA p.R362* NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 362 Cadherin 3.|Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGTTATCTCTCGATACCGAGT 0.378 NA 13 45 0 0 0.000219431 0 0 KIR2DS4 3809 broad.mit.edu 37 19 55344253 55344253 + Missense_Mutation SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr19:55344253G>T uc002qhm.1 + 1 80 c.34G>T c.(34-36)GGG>TGG p.G12W KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Missense_Mutation_p.G12W NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 12 integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) GGCGTGTGTTGGTGAGTCCTG 0.612 NA 10 155 1.58986e-06 2.49889e-05 0.000673444 1 0 PRKD3 23683 broad.mit.edu 37 2 37543552 37543552 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:37543552C>T uc002rqd.2 - 1 671 c.116G>A c.(115-117)CGA>CAA p.R39Q PRKD3_uc002rqf.1_Missense_Mutation_p.R39Q NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 39 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) ATTAGAGAGTCGGGCAGAGAG 0.517 Melanoma(80;621 1355 8613 11814 51767) NA 7 83 0 0 8.12818e-05 0 0 REL 5966 broad.mit.edu 37 2 61149499 61149499 + Missense_Mutation SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:61149499G>T uc002sam.1 + 11 1913 c.1689G>T c.(1687-1689)GAG>GAT p.E563D REL_uc002san.1_Missense_Mutation_p.E531D NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 563 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) ATGCATTTGAGGGATCTGACT 0.418 NA A Hodgkin Lymphoma 21 102 1.96292e-10 3.23761e-09 0.000175454 1 0 RGPD4 285190 broad.mit.edu 37 2 108488724 108488724 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:108488724G>C uc010ywk.1 + 20 4346 c.4264G>C c.(4264-4266)GGG>CGG p.G1422R RGPD4_uc002tdu.2_Missense_Mutation_p.G609R|RGPD4_uc010ywl.1_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1422 RanBD1 2. intracellular transport binding skin(2) 2 AAATATGAAAGGGACAGAAAG 0.378 NA 21 328 0 0 0.000375601 0 0 TMEM177 80775 broad.mit.edu 37 2 120439204 120439204 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:120439204G>C uc010flg.1 + 2 1248 c.775G>C c.(775-777)GCC>CCC p.A259P TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.A259P|TMEM177_uc002tmd.2_Missense_Mutation_p.A259P|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 259 integral to membrane ovary(1) 1 Colorectal(110;0.196) GGGCAACCTGGCCCTGCGCAG 0.587 NA 7 50 0 0 8.12818e-05 0 0 TANK 10010 broad.mit.edu 37 2 162036222 162036222 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:162036222C>T uc002ubr.1 + 2 207 c.49C>T c.(49-51)CGG>TGG p.R17W TANK_uc002ubq.1_Missense_Mutation_p.R17W|TANK_uc002ubs.2_Missense_Mutation_p.R17W NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 17 cytosol metal ion binding|protein binding ovary(1) 1 TGAAGCCTTCCGGCAGGCATG 0.403 NA 4 30 0 0 0.000602214 0 0 DNAJC10 54431 broad.mit.edu 37 2 183584806 183584806 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:183584806C>T uc002uow.1 + 4 692 c.277C>T c.(277-279)CGG>TGG p.R93W DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.R93W|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 93 J. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TGAAGATCTACGGAAAAAGTA 0.313 Pancreas(56;860 1183 25669 35822 48585) NA 6 56 0 0 8.12818e-05 0 0 COL4A4 1286 broad.mit.edu 37 2 227872966 227872966 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:227872966T>C uc010zlt.1 - 46 5231 c.4577A>G c.(4576-4578)AAC>AGC p.N1526S NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1526 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGGTGGATGTTGCAGTAGGC 0.582 NA 3 33 0 0 6.4e-05 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545643 234545643 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:234545643A>G uc002vur.2 + 1 521 c.475A>G c.(475-477)AAA>GAA p.K159E UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Missense_Mutation_p.K159E NM_019075 NP_061948 Q9HAW8 UD110_HUMAN UDP glycosyltransferase 1 family, polypeptide 159 flavone metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding ovary(2)|skin(1) 3 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AATTGTTGCTAAATATTTCTC 0.423 NA 26 132 0 0 0.000227799 0 0 GPR35 2859 broad.mit.edu 37 2 241569479 241569479 + Missense_Mutation SNP T T G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:241569479T>G uc002vzs.1 + 1 685 c.110T>G c.(109-111)CTC>CGC p.L37R GPR35_uc010fzh.1_Missense_Mutation_p.L68R|GPR35_uc010fzi.1_Missense_Mutation_p.L68R NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 37 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GGCCTGCTGCTCAACAGCCTG 0.642 NA 5 50 0 0 0.000602214 0 0 ZNF341 84905 broad.mit.edu 37 20 32378868 32378868 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr20:32378868G>A uc002wzy.2 + 15 2130 c.2110G>A c.(2110-2112)GCC>ACC p.A704T ZNF341_uc002wzx.2_Missense_Mutation_p.A697T|ZNF341_uc010geq.2_Missense_Mutation_p.A614T|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Missense_Mutation_p.A131T NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 704 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GCATCAGCGCGCCCACACGGG 0.612 NA 5 35 0 0 0.000602214 0 0 NCOA5 57727 broad.mit.edu 37 20 44691001 44691001 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr20:44691001G>C uc002xrd.2 - 7 2206 c.1678C>G c.(1678-1680)CAG>GAG p.Q560E NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Missense_Mutation_p.Q560E NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 560 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) GCTGTGGTCTGGCTAACCAGG 0.547 NA 4 30 0 0 0.000602214 0 0 UMODL1 89766 broad.mit.edu 37 21 43522353 43522353 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr21:43522353G>A uc002zaf.1 + 8 1264 c.1264G>A c.(1264-1266)GAG>AAG p.E422K UMODL1_uc002zad.1_Missense_Mutation_p.E350K|UMODL1_uc002zae.1_Missense_Mutation_p.E350K|UMODL1_uc002zag.1_Missense_Mutation_p.E422K|UMODL1_uc010gow.1_Missense_Mutation_p.E214K|UMODL1_uc002zai.1_Missense_Mutation_p.E73K|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.E73K|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.E167K|C21orf128_uc002zak.2_3'UTR NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 422 Extracellular (Potential).|SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CAGCAGTGTGGAGTACCAGGA 0.438 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 8 144 0 0 0.000274275 0 0 PCBP3 54039 broad.mit.edu 37 21 47360050 47360050 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr21:47360050G>A uc002zhq.1 + 13 1141 c.1016G>A c.(1015-1017)CGT>CAT p.R339H PCBP3_uc002zhp.1_Missense_Mutation_p.R319H|PCBP3_uc002zhs.1_Missense_Mutation_p.R313H|PCBP3_uc002zhr.1_Missense_Mutation_p.R338H|PCBP3_uc002zht.1_Missense_Mutation_p.R329H NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 339 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TCCTCAGAGCGTCAGATCACC 0.557 NA 11 46 0 0 6.40141e-05 0 0 IL2RB 3560 broad.mit.edu 37 22 37524438 37524438 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr22:37524438C>T uc003aqv.1 - 10 1485 c.1354G>A c.(1354-1356)GAA>AAA p.E452K NM_000878 NP_000869 P14784 IL2RB_HUMAN interleukin 2 receptor beta precursor 452 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity 0 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ATCCTCTCTTCACCGGCCCCA 0.667 NA 9 10 0 0 0.000442599 0 0 SCN5A 6331 broad.mit.edu 37 3 38674694 38674694 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr3:38674694G>A uc003cio.2 - 2 299 c.105C>T c.(103-105)GGC>GGT p.G35G SCN5A_uc003cin.2_Silent_p.G35G|SCN5A_uc003cil.3_Silent_p.G35G|SCN5A_uc010hhi.2_Silent_p.G35G|SCN5A_uc010hhk.2_Silent_p.G35G|SCN5A_uc011ayr.1_Silent_p.G35G NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 35 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGGTGGTTGAGCCGCGGGCTT 0.637 NA 3 16 0 0 6.4e-05 0 0 BSN 8927 broad.mit.edu 37 3 49692949 49692949 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr3:49692949C>T uc003cxe.3 + 5 6074 c.5960C>T c.(5959-5961)ACC>ATC p.T1987I NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1987 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ATGTCTGACACCAATTTGGCT 0.627 NA 4 29 0 0 0.000602214 0 0 ECT2 1894 broad.mit.edu 37 3 172480505 172480505 + Missense_Mutation SNP A A T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr3:172480505A>T uc003fii.2 + 9 959 c.821A>T c.(820-822)GAT>GTT p.D274V ECT2_uc010hwv.1_Missense_Mutation_p.D305V|ECT2_uc003fih.2_Missense_Mutation_p.D273V|ECT2_uc003fij.1_Missense_Mutation_p.D274V|ECT2_uc003fik.1_Missense_Mutation_p.D274V|ECT2_uc003fil.1_Missense_Mutation_p.D305V NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 274 BRCT 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) CCGCTTGGAGATGAAAGATGC 0.333 NA 4 52 0 0 3.59834e-05 0 0 WHSC1 7468 broad.mit.edu 37 4 1961302 1961303 + Missense_Mutation DNP GG GG TC TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr4:1961302_1961303GG>TC uc003gdz.3 + 17 3266_3267 c.3090_3091GG>TC c.(3088-3093)TCGGAG>TCTCAG p.E1031Q WHSC1_uc003geb.3_Missense_Mutation_p.E1031Q|WHSC1_uc003gec.3_Missense_Mutation_p.E1031Q|WHSC1_uc003ged.3_Missense_Mutation_p.E1031Q|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.E250Q|WHSC1_uc011bvh.1_Missense_Mutation_p.E92Q|WHSC1_uc010icf.2_Missense_Mutation_p.E379Q NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1031 AWS. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GCTTTGATTCGGAGTGTCTGAA 0.525 NA T IGH@ MM 11 51 0 0 6.4e-05 0 0 TAS2R1 50834 broad.mit.edu 37 5 9630087 9630087 + Missense_Mutation SNP C C A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr5:9630087C>A uc003jem.1 - 1 377 c.58G>T c.(58-60)GGG>TGG p.G20W NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 20 Helical; Name=1; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 GTGAAAATCCCAAGAAGAAAT 0.343 NA 20 56 8.10497e-08 1.30461e-06 0.000175454 1 0 ISL1 3670 broad.mit.edu 37 5 50683467 50683467 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr5:50683467C>T uc003jor.2 + 3 910 c.362C>T c.(361-363)GCG>GTG p.A121V NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 121 LIM zinc-binding 2. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) GACGAATTTGCGCTTCGGGAG 0.632 NA 7 30 0 0 8.12818e-05 0 0 FAT2 2196 broad.mit.edu 37 5 150931118 150931118 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr5:150931118G>A uc003lue.3 - 6 4219 c.4206C>T c.(4204-4206)ATC>ATT p.I1402I GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1402 Extracellular (Potential).|Cadherin 12. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCAATGACGATGCTGCCTG 0.522 NA 7 63 0 0 0.000274275 0 0 HLA-DMA 3108 broad.mit.edu 37 6 32918314 32918314 + Missense_Mutation SNP T T C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr6:32918314T>C uc003ocm.2 - 2 441 c.355A>G c.(355-357)AAA>GAA p.K119E HLA-DMA_uc011dqm.1_Missense_Mutation_p.K119E NM_006120 NP_006111 Q31604 Q31604_HUMAN major histocompatibility complex, class II, DM 119 integral to membrane|MHC class II protein complex 0 ACCGGGATTTTCCCATCAAGT 0.488 NA 9 209 0 0 0.000442599 0 0 TAAR5 9038 broad.mit.edu 37 6 132910007 132910007 + Missense_Mutation SNP C C T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr6:132910007C>T uc003qdk.2 - 1 871 c.819G>A c.(817-819)ATG>ATA p.M273I NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 273 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGCTGTCGACCATCGTGTCTA 0.517 NA 11 90 0 0 6.40141e-05 0 0 NOD1 10392 broad.mit.edu 37 7 30491515 30491515 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:30491515G>A uc003tav.2 - 6 2041 c.1518C>T c.(1516-1518)CCC>CCT p.P506P NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 506 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 GGTCACCCCCGGGGCCCAGCT 0.627 NA 7 56 0 0 0.000274275 0 0 KIAA0895 23366 broad.mit.edu 37 7 36373544 36373544 + Silent SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:36373544G>T uc003tfd.2 - 5 1278 c.1227C>A c.(1225-1227)GGC>GGA p.G409G KIAA0895_uc003tfc.2_Silent_p.G396G|KIAA0895_uc011kaw.1_Silent_p.G306G|KIAA0895_uc003tfb.2_Silent_p.G358G|KIAA0895_uc011kax.1_Silent_p.G406G NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 409 0 TGACAAACCTGCCAATATCTT 0.448 NA 6 122 2.0095e-06 3.12173e-05 8.12818e-05 1 0 OGDH 4967 broad.mit.edu 37 7 44687313 44687313 + Missense_Mutation SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:44687313G>T uc003tln.2 + 4 581 c.472G>T c.(472-474)GAC>TAC p.D158Y OGDH_uc003tlm.2_Missense_Mutation_p.D158Y|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Missense_Mutation_p.W4C|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 158 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TGCTGATCTGGACTCCTCCGT 0.557 NA 18 148 1.10513e-12 1.86893e-11 0.000295444 1 0 MAGI2 9863 broad.mit.edu 37 7 77764449 77764449 + Silent SNP G G T TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:77764449G>T uc003ugx.2 - 17 3174 c.2920C>A c.(2920-2922)CGG>AGG p.R974R MAGI2_uc003ugy.2_Silent_p.R960R|MAGI2_uc010ldx.1_Silent_p.R567R NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 974 PDZ 5. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GCTAGGATCCGGTCTCCCACT 0.483 NA 5 159 8.12818e-05 0.00124819 8.12818e-05 1 0 MOGAT3 346606 broad.mit.edu 37 7 100843556 100843556 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:100843556G>A uc003uyc.2 - 3 414 c.247C>T c.(247-249)CGG>TGG p.R83W MOGAT3_uc010lhr.2_Missense_Mutation_p.R83W NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 83 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) CAAATTGCCCGGTTCCTTATC 0.562 NA 29 200 0 0 0.000409698 0 0 ADAM18 8749 broad.mit.edu 37 8 39564352 39564352 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr8:39564352G>A uc003xni.2 + 18 1946 c.1946G>A c.(1945-1947)AGA>AAA p.R649K ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.R625K NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 649 EGF-like.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CCTGGACATAGACCTCCAGAT 0.348 NA 21 58 0 0 0.000295444 0 0 FZD6 8323 broad.mit.edu 37 8 104331000 104331000 + Silent SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr8:104331000G>A uc003ylh.2 + 3 644 c.360G>A c.(358-360)GAG>GAA p.E120E FZD6_uc003yli.2_Silent_p.E120E|FZD6_uc003ylj.2_Silent_p.E120E|FZD6_uc011lhn.1_Silent_p.E86E|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Silent_p.E65E NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 120 FZ.|Extracellular (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GGCCTGAGGAGCTTGAATGTG 0.368 NA 6 44 0 0 3.59834e-05 0 0 ZNF462 58499 broad.mit.edu 37 9 109773236 109773236 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr9:109773236G>C uc004bcz.2 + 13 7735 c.7446G>C c.(7444-7446)AAG>AAC p.K2482N ZNF462_uc010mto.2_Missense_Mutation_p.K2391N|ZNF462_uc004bda.2_Missense_Mutation_p.K2390N|ZNF462_uc011lvz.1_Missense_Mutation_p.K439N|uc004bdc.1_Intron NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2482 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TTTCCCTAAAGAATGAAACAG 0.413 NA 6 19 0 0 8.12818e-05 0 0 RABEPK 10244 broad.mit.edu 37 9 127969995 127969995 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr9:127969995A>G uc004bpi.2 + 4 379 c.206A>G c.(205-207)GAT>GGT p.D69G RABEPK_uc004bph.1_Missense_Mutation_p.D69G|RABEPK_uc004bpj.2_Missense_Mutation_p.D69G|RABEPK_uc004bpk.2_Missense_Mutation_p.D69G|RABEPK_uc004bpl.1_Missense_Mutation_p.D69G|RABEPK_uc004bpm.2_Missense_Mutation_p.D69G NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 69 Kelch 1. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 CACACCATGGATCTGGGTAAG 0.507 NA 10 78 0 0 0.000673444 0 0 FLJ44635 392490 broad.mit.edu 37 X 71380019 71380019 + Missense_Mutation SNP A A C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:71380019A>C uc004eal.1 + 2 688 c.340A>C c.(340-342)AAA>CAA p.K114Q NM_207422 NP_997305 Q56UQ5 TPT1L_HUMAN hypothetical protein LOC392490 114 lung(1) 1 Renal(35;0.156) ACAGAGACCAAAAAGAGTAAA 0.378 NA 9 98 0 0 0.000442599 0 0 LPAR4 2846 broad.mit.edu 37 X 78010493 78010493 + Missense_Mutation SNP G G A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:78010493G>A uc010nme.2 + 2 532 c.127G>A c.(127-129)GGT>AGT p.G43S NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 43 Extracellular (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TAATCTCAATGGTGCTGTCTA 0.408 NA 21 261 0 0 0.000295444 0 0 MCTS1 28985 broad.mit.edu 37 X 119739377 119739377 + Missense_Mutation SNP A A G TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:119739377A>G uc004esx.2 + 2 475 c.127A>G c.(127-129)ATC>GTC p.I43V MCTS1_uc011mub.1_Missense_Mutation_p.I44V NM_014060 NP_054779 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 isoform 1 43 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding 0 GCTTAATCAAATCATGCCTAA 0.343 NA 4 139 0 0 0.00024832 0 0 GRIA3 2892 broad.mit.edu 37 X 122598956 122598956 + Missense_Mutation SNP G G C TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chrX:122598956G>C uc004etq.3 + 14 2610 c.2317G>C c.(2317-2319)GCA>CCA p.A773P GRIA3_uc004etr.3_Missense_Mutation_p.A773P|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 773 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TAAAGGCTCAGCATTAAGGTG 0.398 NA 5 75 0 0 0.000602214 0 0 PRPF40A 55660 broad.mit.edu 37 2 153547493 153547494 + Splice_Site INS - - A TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr2:153547493_153547494insA uc002tyi.2 - 5 423 c.410_splice c.e5-1 p.G137_splice PRPF40A_uc002tyh.3_Splice_Site_p.G110_splice|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Splice_Site_p.G6_splice|PRPF40A_uc002tyl.1_Splice_Site_p.G137_splice NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 GATGCTGTACCTAAAAAATAAA 0.267 NA 2 4 --- --- --- --- NA NA NA NA NA EGFR 1956 broad.mit.edu 37 7 55242468 55242482 + In_Frame_Del DEL ATTAAGAGAAGCAAC ATTAAGAGAAGCAAC - rs121913435 TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 ATTAAGAGAAGCAAC ATTAAGAGAAGCAAC - - ATTAAGAGAAGCAAC ATTAAGAGAAGCAAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr7:55242468_55242482delATTAAGAGAAGCAAC uc003tqk.2 + 19 2484_2498 c.2238_2252delATTAAGAGAAGCAAC c.(2236-2253)GAATTAAGAGAAGCAACA>GAA p.LREAT747del EGFR_uc010kzg.1_In_Frame_Del_p.LREAT702del|EGFR_uc011kco.1_In_Frame_Del_p.LREAT694del NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 747_751 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1613)|p.L747_P753>S(166)|p.L747_A750>P(115)|p.L747_T751del(114)|p.E746_S752>V(67)|p.L747_S752del(64)|p.L747_T751>P(33)|p.E746_T751>A(30)|p.L747_E749del(26)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.E746_T751del(18)|p.K745_E749del(14)|p.L747_T751>S(12)|p.E746_E749del(12)|p.L747_A750del(11)|p.E746_S752del(10)|p.L747_T751>Q(7)|p.E746_P753>VS(6)|p.T751_I759>N(5)|p.E746_A750>IP(5)|p.L747P(5)|p.E746_T751>I(5)|p.E746_T751>V(5)|p.E746_S752>A(5)|p.E746_T751>IP(5)|p.T751I(5)|p.L747S(4)|p.E746_A750>QP(4)|p.E746_S752>D(4)|p.K745_A750del(4)|p.T751_I759>S(3)|p.L747_S752>Q(3)|p.A750P(3)|p.L747del(3)|p.E746_T751>VA(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.E746_A750>S(2)|p.L747_S752>QH(2)|p.E746_T751>L(2)|p.L747_T751>A(2)|p.A750_E758>P(2)|p.E746_T751>Q(2)|p.E746_T751>S(2)|p.E746_A750>DP(2)|p.E746_S752>T(2)|p.E746_P753del(2)|p.E746_S752>I(2)|p.E746_A750>AP(2)|p.L747_K754>ST(1)|p.E746_A750>A(1)|p.A750_K754del(1)|p.E746_A750>VP(1)|p.L747_K754>N(1)|p.L747_A755del(1)|p.E746_A750>EP(1)|p.L747_R748>FP(1)|p.K745_L747del(1)|p.L747_S752>V(1)|p.L747_N756>SKDD(1)|p.L747_E749>C(1)|p.E746_P753>LS(1)|p.L747_T751>F(1)|p.E746_P753>VQ(1)|p.L747_P753>CG(1)|p.E746_T751>LS(1)|p.A750_E758del(1)|p.E746V(1)|p.E746_R748del(1)|p.I744_A750>VK(1)|p.E746_T751>P(1)|p.L747_K754del(1)|p.R748I(1)|p.L747_T751>N(1)|p.E746_A750>KP(1)|p.T751_I759>REA(1)|p.L747_S752>QR(1)|p.L747_K754>GC(1)|p.T751_E758del(1)|p.L747_A755>SKS(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTATCAAGGAATTAAGAGAAGCAACATCTCCGAAA 0.479 E746_A750del(NCIH1650_LUNG)|L747_P753>Q(HCC4006_LUNG)|E746_A750del(PC14_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 66 108 --- --- --- --- NA NA NA NA NA KIAA1429 25962 broad.mit.edu 37 8 95538800 95538800 + Frame_Shift_Del DEL G G - TCGA-55-6981-01A-11D-1945-08 TCGA-55-6981-11A-01D-1945-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 89a3a647-cf21-447f-9df3-9e563662e076 468bfcb8-eaa3-4e1e-b4ee-f673d3531d54 g.chr8:95538800delG uc003ygo.1 - 8 1685 c.1672delC c.(1672-1674)CATfs p.H558fs KIAA1429_uc003ygp.2_Frame_Shift_Del_p.H558fs|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 558 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TCATAGAAATGGCATTTTTGG 0.398 NA 50 118 --- --- --- --- NA NA NA NA NA