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 MLL3 58508 broad.mit.edu 37 7 151878929 151878929 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151878929G>A uc003wla.3 - 35 6235 c.6016C>T c.(6016-6018)Cac>Tac p.H2006Y MLL3_uc003wkz.3_Missense_Mutation_p.H1067Y NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 2006 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTAGTAAAGTGATCACTGGTT 0.463000 N medulloblastoma 15 201 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145368466 145368466 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:145368466G>A uc021oul.1 + 83 10479 c.10444G>A c.(10444-10446)Gaa>Aaa p.E3482K NBPF10_uc010oye.2_Missense_Mutation_p.E841K|NBPF10_uc010oyi.2_Missense_Mutation_p.E410K|NBPF10_uc010oyj.2_Missense_Mutation_p.E198K|NBPF10_uc010oyl.2_Missense_Mutation_p.E198K NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3482 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) GATGGAAGTGGAAGAGCGTGA 0.468000 30 494 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233710457 233710457 + Silent SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr2:233710457G>A uc002vtj.4 + 27 3651 c.3384G>A c.(3382-3384)gtG>gtA p.V1128V GIGYF2_uc002vti.4_Silent_p.V1107V|GIGYF2_uc002vtk.4_Silent_p.V1107V|GIGYF2_uc002vth.4_Silent_p.V1101V|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Silent_p.V440V NM_001103147 NP_001096617 Q6Y7W6 PERQ2_HUMAN Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA. 1107 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CTGTAGGTGTGTCTAACCGGC 0.363000 4 75 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 52 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340073 62340073 + Missense_Mutation SNP C C G TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr20:62340073C>G uc002ygk.3 + 1 330 c.141C>G c.(139-141)atC>atG p.I47M ARFRP1_uc002yga.3_5'Flank|ARFRP1_uc002ygf.3_5'Flank|ARFRP1_uc011abf.2_5'Flank|ARFRP1_uc002ygh.4_5'Flank|ARFRP1_uc002ygc.3_5'Flank|ARFRP1_uc011abg.2_5'Flank|ARFRP1_uc011abh.2_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.I47M|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Missense_Mutation_p.I47M|ZGPAT_uc002ygm.3_Missense_Mutation_p.I47M|ZGPAT_uc002ygj.2_Missense_Mutation_p.I47M|ZGPAT_uc002ygn.4_Non-coding_Transcript NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA. 47 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) AGGAGCTCATCGAGCTCACCG 0.672000 7 64 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156009858 156009858 + Silent SNP G G T rs138625130 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr3:156009858G>T uc003fat.2 + 0 1083 c.162G>T c.(160-162)acG>acT p.T54T KCNAB1_uc003far.2_Intron|KCNAB1_uc011bon.1_Intron|KCNAB1_uc003fas.2_Intron|KCNAB1_uc010hvt.1_Silent_p.T54T NM_172159 NP_751891 Q14722 KCAB1_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 3, mRNA. 72 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.T54T(2) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GGACGTTCACGCCTCAGCATC 0.567000 4 81 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106992466 106992466 + Missense_Mutation SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr6:106992466C>T uc003prh.3 + 9 4748 c.3836C>T c.(3835-3837)cCt>cTt p.P1279L AIM1_uc003pri.3_Missense_Mutation_p.P83L NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 1279 Beta/gamma crystallin 'Greek key' 6. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TATGAGAAACCTGGATTTACC 0.398000 4 69 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151878394 151878394 + Missense_Mutation SNP G G C TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151878394G>C uc003wla.3 - 35 6770 c.6551C>G c.(6550-6552)tCt>tGt p.S2184C MLL3_uc003wkz.3_Missense_Mutation_p.S1245C NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 2184 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.P2183S(1) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGTTTGTGTAGATGGTCTTGG 0.483000 N medulloblastoma 6 89 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65117914 65117914 + Silent SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr1:65117914G>A uc001dbo.1 + 9 1413 c.1308G>A c.(1306-1308)gtG>gtA p.V436V CACHD1_uc001dbp.1_Silent_p.V191V|CACHD1_uc001dbq.1_Silent_p.V191V NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN Homo sapiens cache domain containing 1 (CACHD1), mRNA. 487 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GTGTGGACGTGAATCTGGCTT 0.368000 12 72 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4906130 4906130 + Missense_Mutation SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr17:4906130C>T uc002gan.2 + 7 1070 c.713C>T c.(712-714)tCg>tTg p.S238L NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 238 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 GGGCTGGACTCGGAGAAGGTG 0.632000 6 56 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151879081 151879081 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151879081G>A uc003wla.3 - 35 6083 c.5864C>T c.(5863-5865)tCt>tTt p.S1955F MLL3_uc003wkz.3_Missense_Mutation_p.S1016F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1955 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGTCGTGGAAGAAGAACATAA 0.463000 N medulloblastoma 12 210 0 0 1 0 0 PLP1 5354 broad.mit.edu 37 X 103042822 103042822 + Silent SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chrX:103042822C>T uc010nov.3 + 4 829 c.549C>T c.(547-549)acC>acT p.T183T RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Silent_p.T183T|PLP1_uc004elj.3_Silent_p.T148T|PLP1_uc011msf.2_Silent_p.T128T|PLP1_uc010nox.3_Silent_p.T137T NM_001128834 NP_001122306 P60201 MYPR_HUMAN Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA. 183 T -> N (in HLD1). cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 CCTGGACCACCTGCCAGTCTA 0.527000 33 92 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433640 40433640 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr19:40433640G>A uc002omp.4 - 1 637 c.629C>T c.(628-630)tCg>tTg p.S210L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 210 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTTTGACCCCGAGAGATCCAC 0.542000 9 75 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151879574 151879574 + Nonsense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr7:151879574G>A uc003wla.3 - 35 5590 c.5371C>T c.(5371-5373)Cag>Tag p.Q1791* MLL3_uc003wkz.3_Nonsense_Mutation_p.Q852* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 1791 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.Q1791*(3) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGAAGATGCTGAGAACCAAAT 0.468000 N medulloblastoma 15 177 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73152080 73152080 + Missense_Mutation SNP C C T rs144341800 TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr9:73152080C>T uc004aid.3 - 24 4157 c.3913G>A c.(3913-3915)Gaa>Aaa p.E1305K TRPM3_uc004ahu.3_Missense_Mutation_p.E1147K|TRPM3_uc004ahv.3_Missense_Mutation_p.E1107K|TRPM3_uc004ahw.3_Missense_Mutation_p.E1177K|TRPM3_uc004ahx.3_Missense_Mutation_p.E1164K|TRPM3_uc004ahy.3_Missense_Mutation_p.E1167K|TRPM3_uc004ahz.3_Missense_Mutation_p.E1154K|TRPM3_uc004aia.3_Missense_Mutation_p.E1152K|TRPM3_uc004aib.3_Missense_Mutation_p.E1142K|TRPM3_uc004aic.3_Missense_Mutation_p.E1305K NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1330 integral to membrane calcium channel activity p.E1309K(1)|p.E1177K(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GTGTTCCCTTCCTGGCTGTTG 0.567000 23 100 0 0 1 0 0 NDUFB10 4716 broad.mit.edu 37 16 2011570 2011570 + Silent SNP C C T TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr16:2011570C>T uc002cni.2 + 2 451 c.342C>T c.(340-342)aaC>aaT p.N114N TCRBV20S1_uc021tak.1_Intron|NDUFB10_uc002cnj.2_Silent_p.N114N NM_004548 NP_004539 O96000 NDUBA_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa (NDUFB10), nuclear gene encoding mitochondrial protein, mRNA. 114 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding lung(1)|urinary_tract(1) 2 NADH(DB00157) AAGGACAGAACTACCAGCAGA 0.557000 14 89 0 0 1 0 0 TIPIN 54962 broad.mit.edu 37 15 66633685 66633685 + Missense_Mutation SNP G G A TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr15:66633685G>A uc002apr.2 - 6 571 c.485C>T c.(484-486)gCg>gTg p.A162V TIPIN_uc010ujn.1_Missense_Mutation_p.A61V|TIPIN_uc010ujo.1_Missense_Mutation_p.A61V NM_017858 NP_060328 Q9BVW5 TIPIN_HUMAN Homo sapiens TIMELESS interacting protein (TIPIN), mRNA. 162 DNA replication checkpoint|cell division|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 ATTATTCTCCGCAACTTCATC 0.363000 3 24 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13593582 13593582 + Frame_Shift_Del DEL G G - TCGA-ET-A3DU-01A-11D-A19J-08 TCGA-ET-A3DU-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 70168ed4-c985-46b2-8c9a-c0510fef5e77 f2a70c64-a751-4ecd-9361-59710dcc20d3 g.chr4:13593582delG uc003gmz.1 - 12 8230 c.8113delC c.(8113-8115)cagfs p.Q2705fs NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA. 2705 DNA binding GGCTCCCTCTGGAGTTCAGCT 0.308 2 4 --- --- --- ---