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 pox qox pox_cutoff isArtifactMode oxoGCut SORCS3 22986 broad.mit.edu 37 10 107022173 107022173 + Silent SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr10:107022173C>T ENST00000369701.3 + 26 3755 c.3528C>T c.(3526-3528)aaC>aaT p.N1176N NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1176 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAAGTGAAAACGCCCCCAAAA 0.512000 3 22 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178981032 178981032 + Missense_Mutation SNP T T C TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr2:178981032T>C ENST00000286070.5 + 2 436 c.344T>C c.(343-345)gTt>gCt p.V115A NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 115 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) CACCGAGATGTTGAAGATGAA 0.343000 13 57 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 5 128 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000287 56000287 + Silent SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr11:56000287C>T ENST00000313264.4 - 1 450 c.375G>A c.(373-375)acG>acA p.T125T NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 125 T -> M (in dbSNP:rs7122514). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TATTCTTTGTCGTAAAATCTA 0.403000 4 52 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66890448 66890448 + Missense_Mutation SNP A A C TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr17:66890448A>C ENST00000269080.2 - 21 2919 c.2782T>G c.(2782-2784)Tac>Gac p.Y928D ABCA8_ENST00000430352.2_Missense_Mutation_p.Y968D|ABCA8_ENST00000586539.1_Missense_Mutation_p.Y968D NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 928 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GAAAAGCTGTAATTCTAAAAT 0.303000 4 23 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7849197 7849197 + Missense_Mutation SNP T T G TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr17:7849197T>G ENST00000380262.3 + 13 2811 c.1886T>G c.(1885-1887)gTt>gGt p.V629G CNTROB_ENST00000563694.1_Missense_Mutation_p.V629G|CNTROB_ENST00000565740.1_Missense_Mutation_p.V629G|CNTROB_ENST00000380255.3_3'UTR NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 629 Pro-rich.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GCGCCTCCTGTTCTTTGCAGT 0.587000 4 77 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 112 0 0 1 0 0 MTHFD1L 25902 broad.mit.edu 37 6 151239756 151239756 + Silent SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr6:151239756C>T ENST00000367321.3 + 9 1210 c.936C>T c.(934-936)ctC>ctT p.L312L NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 312 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TTGGTGGACTCATTGAGGAAG 0.393000 7 55 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107703339 107703339 + Silent SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr7:107703339C>T ENST00000388781.3 - 23 3245 c.3162G>A c.(3160-3162)ccG>ccA p.P1054P LAMB4_ENST00000388780.3_Silent_p.P1054P|LAMB4_ENST00000205386.4_Silent_p.P1054P NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1054 Laminin EGF-like 11. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CTGTGACATTCGGCAGACAAG 0.592000 3 26 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197896792 197896792 + Missense_Mutation SNP C C A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:197896792C>A ENST00000367390.3 + 5 805 c.778C>A c.(778-780)Cgc>Agc p.R260S LHX9_ENST00000367391.1_Missense_Mutation_p.R260S|LHX9_ENST00000561173.1_Missense_Mutation_p.R275S|LHX9_ENST00000367387.4_Missense_Mutation_p.R269S|LHX9_ENST00000337020.2_Missense_Mutation_p.R269S NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 269 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 GAAGACCAAGCGCATGCGAAC 0.527000 14 115 1.52009e-12 1.71497e-12 1 1 0 PTPN1 5770 broad.mit.edu 37 20 49196444 49196444 + Missense_Mutation SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr20:49196444G>A ENST00000371621.3 + 8 1243 c.1069G>A c.(1069-1071)Gca>Aca p.A357T PTPN1_ENST00000541713.1_Missense_Mutation_p.A284T NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 357 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CTTAAATGCCGCACCCTACGG 0.498000 OREG0026029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 46 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164739070 164739070 + Silent SNP G G T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr3:164739070G>T ENST00000264382.3 - 27 3263 c.3201C>A c.(3199-3201)atC>atA p.I1067I NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1067 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GATTTTCCTTGATTTCCACAT 0.343000 HNSCC(35;0.089) 5 94 0.014758 0.0158378 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 37 0 0 1 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941929 153941929 + Missense_Mutation SNP C C G TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:153941929C>G ENST00000368607.3 + 4 807 c.541C>G c.(541-543)Ctg>Gtg p.L181V CREB3L4_ENST00000368601.1_Missense_Mutation_p.L181V|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L34V|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L181V|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L161V|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L181V NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 181 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGTACAACCCTGGTGAGTCT 0.517000 5 39 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 30 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592846 158592846 + Missense_Mutation SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:158592846C>T ENST00000368148.3 - 43 6227 c.6047G>A c.(6046-6048)cGc>cAc p.R2016H SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2016 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R2016H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGTTCCCAGCGCTTCAGCAG 0.478000 21 174 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18047889 18047889 + Missense_Mutation SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr17:18047889G>A ENST00000205890.5 + 29 6594 c.6256G>A c.(6256-6258)Gtg>Atg p.V2086M NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2086 MyTH4 1.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGCAGAAGCCGTGAGCATCTT 0.607000 5 30 0 0 1 0 0 ZNF398 0 broad.mit.edu 37 7 148876613 148876613 + Missense_Mutation SNP G G A rs146764677 TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr7:148876613G>A ENST00000420008.2 + 6 1924 c.1136G>A c.(1135-1137)cGc>cAc p.R379H ZNF398_ENST00000483892.1_Missense_Mutation_p.R379H|ZNF398_ENST00000426851.2_Missense_Mutation_p.R379H|ZNF398_ENST00000475153.1_Missense_Mutation_p.R550H|ZNF398_ENST00000540950.1_Missense_Mutation_p.R555H|ZNF398_ENST00000491174.1_Missense_Mutation_p.R379H|ZNF398_ENST00000335901.4_Missense_Mutation_p.R379H NM_170686.2 NP_733787.1 Q8TD17 ZN398_HUMAN zinc finger protein 398 550 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) AGCTTCATCCGCAAGCACCAC 0.597000 3 54 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11362459 11362459 + Silent SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr11:11362459G>A ENST00000227756.4 - 7 1596 c.1185C>T c.(1183-1185)acC>acT p.T395T NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GGACATGGGCGGTGAGGTCCT 0.582000 4 139 0 0 1 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6628405 6628405 + Missense_Mutation SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr7:6628405G>A ENST00000396706.2 + 8 1342 c.899G>A c.(898-900)cGt>cAt p.R300H ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 300 integral to membrane acyltransferase activity|zinc ion binding p.R300H(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGGTGCCAGCGTTGTCCCCTT 0.577000 5 54 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1808052 1808052 + Silent SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr4:1808052C>T ENST00000340107.4 + 15 2290 c.2034C>T c.(2032-2034)gaC>gaT p.D678D FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Silent_p.D564D|FGFR3_ENST00000260795.2_Silent_p.D676D|FGFR3_ENST00000412135.2_Silent_p.D564D|FGFR3_ENST00000440486.2_Silent_p.D676D NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 676 Protein kinase. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACCAGAGTGACGTGTACGTGT 0.667000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 3 34 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533894 55533894 + Missense_Mutation SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr8:55533894G>A ENST00000220676.1 + 2 516 c.368G>A c.(367-369)cGc>cAc p.R123H NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 123 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCCCGTCGGCGCCCGCGGCCC 0.706000 5 68 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245851624 245851624 + Missense_Mutation SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:245851624C>T ENST00000366518.4 + 9 4300 c.4196C>T c.(4195-4197)aCg>aTg p.T1399M KIF26B_ENST00000407071.2_Missense_Mutation_p.T1780M Q2KJY2 KI26B_HUMAN kinesin family member 26B 1780 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GGGAAGCACACGCCCTGGTCC 0.711000 4 22 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5048842 5048842 + Missense_Mutation SNP C C A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr17:5048842C>A ENST00000574788.1 + 27 4365 c.2135C>A c.(2134-2136)cCa>cAa p.P712Q USP6_ENST00000332776.4_Missense_Mutation_p.P712Q|USP6_ENST00000304328.5_Missense_Mutation_p.P395Q|USP6_ENST00000250066.6_Missense_Mutation_p.P712Q P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 712 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TTGCCACTACCAATGGACAGT 0.348000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 6 57 0.0215528 0.0225791 1 1 0 MAGI2 9863 broad.mit.edu 37 7 77973249 77973249 + Silent SNP G G T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr7:77973249G>T ENST00000354212.4 - 9 1507 c.1254C>A c.(1252-1254)tcC>tcA p.S418S MAGI2_ENST00000522391.1_Silent_p.S418S|MAGI2_ENST00000419488.1_Silent_p.S418S|MAGI2_ENST00000535697.1_Silent_p.S255S|MAGI2_ENST00000536571.1_Silent_p.S250S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 418 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CCTTCAACTGGGATGCATCCC 0.443000 5 35 0.217242 0.222294 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 77 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52179204 52179204 + Missense_Mutation SNP T T G TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr14:52179204T>G ENST00000395718.2 + 9 1045 c.760T>G c.(760-762)Tta>Gta p.L254V FRMD6_ENST00000356218.4_Missense_Mutation_p.L254V|FRMD6_ENST00000554167.1_Missense_Mutation_p.L185V|FRMD6_ENST00000344768.5_Missense_Mutation_p.L262V NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 262 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) TTCACAGAATTTAGATGAAGA 0.303000 4 16 0 0 1 0 0 SIRPB2 284759 broad.mit.edu 37 20 1459194 1459194 + Silent SNP C C A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr20:1459194C>A ENST00000359801.3 - 3 546 c.510G>T c.(508-510)ggG>ggT p.G170G SIRPB2_ENST00000537284.1_Silent_p.G32G|SIRPB2_ENST00000444444.1_Silent_p.G72G|SIRPB2_ENST00000381630.1_Silent_p.G72G NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 170 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTCCAGTGGTCCCCAACACCA 0.587000 5 45 0.014758 0.0158378 1 1 0 AMZ2 51321 broad.mit.edu 37 17 66251917 66251917 + Missense_Mutation SNP A A G TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr17:66251917A>G ENST00000359904.3 + 6 1959 c.827A>G c.(826-828)aAc>aGc p.N276S AMZ2_ENST00000577866.1_Missense_Mutation_p.N276S|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000392720.2_Missense_Mutation_p.N276S|AMZ2_ENST00000359783.4_Missense_Mutation_p.N218S|AMZ2_ENST00000577985.1_Missense_Mutation_p.N276S|AMZ2_ENST00000580753.1_Missense_Mutation_p.N276S NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 276 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAGGCTCCAACCACTTGGAA 0.488000 11 63 0 0 1 0 0 STX1B 112755 broad.mit.edu 37 16 31004421 31004421 + Silent SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr16:31004421G>A ENST00000565419.1 - 9 815 c.816C>T c.(814-816)ggC>ggT p.G272G STX1B_ENST00000215095.5_Intron P61266 STX1B_HUMAN syntaxin 1B 0 intracellular protein transport|neurotransmitter transport|synaptic transmission integral to plasma membrane extracellular-glutamate-gated ion channel activity|SNAP receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(5) 13 GGGCTCCCCCGCCTACCCCCA 0.627000 5 24 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1961195 1961195 + Missense_Mutation SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr20:1961195C>T ENST00000217305.2 - 4 764 c.539G>A c.(538-540)cGc>cAc p.R180H PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 180 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGGTATTTGCGCAAAAAGCC 0.602000 16 75 0 0 1 0 0 SEL1L 6400 broad.mit.edu 37 14 81950619 81950619 + Missense_Mutation SNP C C A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr14:81950619C>A ENST00000336735.4 - 19 2112 c.1996G>T c.(1996-1998)Gct>Tct p.A666S NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 666 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) TTAAACATAGCTTGTGCACTG 0.428000 4 219 1 1 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102292820 102292820 + RNA SNP G G C TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr15:102292820G>C ENST00000561463.1 + 0 866 p.T136T(2) GCGTGGGAACGAGAAGACACT 0.592000 3 22 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59341 59341 + Missense_Mutation SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr4:59341G>A ENST00000509152.2 + 2 207 c.22G>A c.(22-24)Gat>Aat p.D8N ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D8N zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AACATTCAGGGATGTGGCCAT 0.418000 5 356 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921147 24921147 + Missense_Mutation SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr15:24921147C>T ENST00000329468.2 + 1 607 c.133C>T c.(133-135)Cgc>Tgc p.R45C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.R45C(1) ACCCACCCCGCGCCCTTTCCG 0.761000 3 20 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 31 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930500 122930500 + Missense_Mutation SNP A A C TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr11:122930500A>C ENST00000534624.1 - 5 1077 c.801T>G c.(799-801)tgT>tgG p.C267W HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.C248W|HSPA8_ENST00000453788.2_Missense_Mutation_p.C267W|HSPA8_ENST00000227378.3_Missense_Mutation_p.C267W|HSPA8_ENST00000534319.1_Missense_Mutation_p.C31W|HSPA8_ENST00000533540.1_Missense_Mutation_p.C121W|HSPA8_ENST00000532636.1_Missense_Mutation_p.C267W NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 267 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TAGCACGTTCACAAGCAGTAC 0.478000 6 36 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1165174 1165174 + Missense_Mutation SNP C C T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr4:1165174C>T ENST00000290902.5 - 3 653 c.321G>A c.(319-321)atG>atA p.M107I SPON2_ENST00000431380.1_Missense_Mutation_p.M107I NM_012445.3 NP_036577.1 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 107 Spondin. axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CGATCTCCTTCATCAGCGCCC 0.701000 3 30 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74785922 74785922 + Missense_Mutation SNP T T G TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr2:74785922T>G ENST00000290536.5 - 11 1630 c.1514A>C c.(1513-1515)aAg>aCg p.K505T M1AP_ENST00000536235.1_Missense_Mutation_p.K501T|M1AP_ENST00000409585.1_Missense_Mutation_p.K501T|M1AP_ENST00000358434.2_Missense_Mutation_p.K154T|M1AP_ENST00000464686.1_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein TGCTGGCATCTTGGAGGCTCT 0.587000 11 40 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245319797 245319797 + Frame_Shift_Del DEL G G - TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr1:245319797delG ENST00000407071.2 + 2 717 c.277delG c.(277-279)gcfs p.G93fs NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 93 Gly-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CCCCGGCATCGGCACTAGTTC 0.786 2 4 --- --- --- --- TRIP12 9320 broad.mit.edu 37 2 230662405 230662405 + Splice_Site DEL C C - TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr2:230662405delC ENST00000283943.5 - 23 3578 c.e23+1 TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000543084.1_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GGACACAGCACCTGGAGGTTG 0.448 9 43 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169889137 169889138 + Frame_Shift_Ins INS - - A TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr3:169889137_169889138insA ENST00000497658.1 - 4 454_455 c.437_438insT c.(436-438)tctfs p.S146fs PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.1_Intron|PHC3_ENST00000474275.1_Intron|PHC3_ENST00000494943.1_Intron|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.S142fs Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 782 Ser-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TTAAATCCAGGAAAAAAAAATT 0.337 3 4 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152708427 152708428 + Frame_Shift_Ins INS - - T TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr6:152708427_152708428insT ENST00000367255.5 - 54 8867_8868 c.8266_8267insA c.(8266-8268)agafs p.R2756fs SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.R2763fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.R2763fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.R2795fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.R2756fs NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2756 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGGATGTTCTATTTTTTGATCC 0.455 HNSCC(10;0.0054) 7 50 --- --- --- --- LSP1 4046 broad.mit.edu 37 11 1874395 1874395 + Frame_Shift_Del DEL C C - TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr11:1874395delC ENST00000311604.3 + 1 196 c.21delC c.(19-21)gafs p.D7fs NM_002339.2 NP_002330.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 7 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) CTTCGAGTGACCCGGGTGCCG 0.652 2 4 --- --- --- --- KCNQ2 3785 broad.mit.edu 37 20 62073806 62073806 + Frame_Shift_Del DEL C C - TCGA-XK-AAIR-01A-11D-A41K-08 TCGA-XK-AAIR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab4e6321-19ec-44d9-aa53-2391911d92d0 bba1d69c-c2b1-4f84-82c8-b54699187c99 g.chr20:62073806delC ENST00000354587.3 - 5 945 c.769delG c.(769-771)agfs p.E257fs KCNQ2_ENST00000370226.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000430658.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370222.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344462.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370221.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.E257fs O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 257 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TGGTCGTTCTCCCCCTTCTCT 0.582 34 182 --- --- --- ---