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 VPS13D 55187 broad.mit.edu 37 1 12408994 12408994 + Missense_Mutation SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:12408994A>G uc001atv.2 + 45 9325 c.9184A>G c.(9184-9186)ATG>GTG p.M3062V VPS13D_uc001atw.2_Missense_Mutation_p.M3037V|VPS13D_uc001atx.2_Missense_Mutation_p.M2249V NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3061 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGAGACACCAATGGAACTAAG 0.393 NA 10 55 0 0 0.008291 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12856112 12856112 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:12856112G>A uc001auj.1 + 4 1495 c.1392G>A c.(1390-1392)CCG>CCA p.P464P NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 464 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTCATCACCGTCTGAGGAAC 0.557 NA 12 127 0 0 0.00245 0 0 AIM1L 55057 broad.mit.edu 37 1 26648746 26648746 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:26648746G>A uc001bmd.3 - 18 2101 c.1671C>T c.(1669-1671)GCC>GCT p.A557A NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 557 Ricin B-type lectin. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GGCGGCTCTCGGCCCACAGCA 0.627 NA 14 63 0 0 0.00245 0 0 SLC44A5 204962 broad.mit.edu 37 1 75685020 75685020 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:75685020C>T uc001dgu.2 - 16 1332 c.1188G>A c.(1186-1188)GCG>GCA p.A396A SLC44A5_uc001dgt.2_Silent_p.A396A|SLC44A5_uc001dgs.2_Silent_p.A354A|SLC44A5_uc001dgr.2_Silent_p.A354A|SLC44A5_uc010oqz.1_Silent_p.A435A|SLC44A5_uc010ora.1_Silent_p.A390A|SLC44A5_uc010orb.1_Silent_p.A266A NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 396 Cytoplasmic (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 CCCCCGATGTCGCCAAGAAAC 0.393 NA 7 20 0 0 0.001984 0 0 KCNA3 3738 broad.mit.edu 37 1 111216654 111216654 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:111216654G>A uc001dzv.1 - 1 1002 c.778C>T c.(778-780)CGC>TGC p.R260C NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 260 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTCGTCGCGGAACTCCGGC 0.667 NA 4 57 0 0 0.009096 0 0 TBX15 6913 broad.mit.edu 37 1 119441710 119441710 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:119441710C>A uc001ehl.1 - 7 962 c.647G>T c.(646-648)TGG>TTG p.W216L TBX15_uc009whj.1_Missense_Mutation_p.W7L NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) AGGAGGTCTCCAGAATGCATA 0.468 NA 13 18 0.00136819 0.00146405 0.013537 1 0 ITGA10 8515 broad.mit.edu 37 1 145530918 145530918 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:145530918G>T uc001eoa.2 + 7 726 c.650G>T c.(649-651)TGG>TTG p.W217L NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.W86L|ITGA10_uc009wiw.2_Missense_Mutation_p.W74L|ITGA10_uc010oyw.1_Missense_Mutation_p.W162L NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 217 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTACATGAGTGGTCCCTGGGA 0.512 NA 20 37 3.51602e-12 4.15979e-12 0.008871 1 0 NBPF14 25832 broad.mit.edu 37 1 148009459 148009459 + Silent SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:148009459A>G uc001eqq.2 - 16 1865 c.1848T>C c.(1846-1848)GAT>GAC p.D616D LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Silent_p.D189D|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 616 NBPF 7. cytoplasm ovary(1) 1 all_hematologic(923;0.032) AATAGCATCTATCCAGTGACT 0.483 NA 14 179 0 0 0.00245 0 0 FLG 2312 broad.mit.edu 37 1 152278890 152278890 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:152278890C>A uc001ezu.1 - 3 8508 c.8472G>T c.(8470-8472)AGG>AGT p.R2824S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2824 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGGCATCAGACCTTCCCTGGG 0.582 NA Ichthyosis 16 469 6.44725e-10 7.57439e-10 0.014323 1 0 GON4L 54856 broad.mit.edu 37 1 155753800 155753800 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:155753800G>A uc001flz.2 - 14 1966 c.1869C>T c.(1867-1869)AAC>AAT p.N623N GON4L_uc001fly.1_Silent_p.N623N|GON4L_uc009wrh.1_Silent_p.N623N|GON4L_uc001fma.1_Silent_p.N623N|GON4L_uc001fmc.2_Silent_p.N623N|GON4L_uc001fmd.3_Silent_p.N623N|GON4L_uc009wri.2_Silent_p.N209N|GON4L_uc009wrj.1_Silent_p.N138N|GON4L_uc001fme.2_Silent_p.N451N NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 623 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GGGTGTTAAAGTTAGGACGAG 0.448 NA 4 100 0 0 0.009096 0 0 KIFAP3 22920 broad.mit.edu 37 1 169923240 169923240 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:169923240C>T uc001ggv.2 - 19 2456 c.2185G>A c.(2185-2187)GCC>ACC p.A729T KIFAP3_uc010plx.1_Missense_Mutation_p.A431T NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 729 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCTTCAGAGGCAATTAATCCA 0.348 NA 52 65 0 0 0.01441 0 0 MYOC 4653 broad.mit.edu 37 1 171621223 171621223 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr1:171621223C>A uc001ghu.2 - 1 551 c.529G>T c.(529-531)GTA>TTA p.V177L MYOC_uc010pmk.1_Missense_Mutation_p.V119L NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 177 Potential. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCCTTGCTACCTCCTGGCTG 0.572 NA 14 355 1.05317e-09 1.2287e-09 0.00245 1 0 IL15RA 3601 broad.mit.edu 37 10 5998369 5998369 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:5998369G>C uc001iiv.2 - 6 747 c.665C>G c.(664-666)TCT>TGT p.S222C IL15RA_uc001iiu.2_Missense_Mutation_p.S70C|IL15RA_uc010qau.1_Missense_Mutation_p.S189C|IL15RA_uc001iiw.2_Missense_Mutation_p.S186C|IL15RA_uc001iix.2_Missense_Mutation_p.S153C|IL15RA_uc001iiy.2_Missense_Mutation_p.S70C NM_002189 NP_002180 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha isoform 1 222 Helical; (Potential). cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity 0 TGCCAGGAGAGACACAGCGCT 0.512 NA 3 30 0 0 0.004672 0 0 ITGA8 8516 broad.mit.edu 37 10 15760899 15760899 + Splice_Site SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:15760899C>G uc001ioc.1 - 2 210 c.210_splice c.e2-1 p.T70_splice ITGA8_uc010qcb.1_Splice_Site_p.T70_splice NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GACACTCGCTCTGCAAAAGAG 0.607 NA 5 67 0 0 0.000602 0 0 MYO3A 53904 broad.mit.edu 37 10 26462857 26462857 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:26462857G>C uc001isn.2 + 30 4024 c.3664G>C c.(3664-3666)GAA>CAA p.E1222Q MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1222 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CAAAGACCTGGAAGAGAACAG 0.413 NA 9 52 0 0 0.008291 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315685 30315685 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:30315685C>T uc001iux.2 - 2 3451 c.3392G>A c.(3391-3393)CGC>CAC p.R1131H KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R993H|KIAA1462_uc009xle.1_Missense_Mutation_p.R1131H NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1131 ovary(4) 4 CGGTGCTGGGCGAGATAGCAA 0.632 NA 10 95 0 0 0.008291 0 0 C10orf81 79949 broad.mit.edu 37 10 115534042 115534042 + Silent SNP A A C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:115534042A>C uc001lat.1 + 8 1273 c.711A>C c.(709-711)CCA>CCC p.P237P C10orf81_uc001lar.1_Silent_p.P243P|C10orf81_uc009xyc.1_Silent_p.P155P|C10orf81_uc001las.1_Silent_p.P155P|C10orf81_uc001lau.1_Silent_p.P57P NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 237 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) CTGATGGTCCAGACCAGGTCT 0.383 NA 4 38 0 0 0.009096 0 0 VWA2 340706 broad.mit.edu 37 10 116032545 116032545 + Nonsense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:116032545A>T uc001lbl.1 + 6 739 c.418A>T c.(418-420)AGA>TGA p.R140* VWA2_uc001lbk.1_Nonsense_Mutation_p.R140*|VWA2_uc009xyf.1_5'UTR NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 140 VWFA 1. extracellular region ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Epithelial(162;0.036)|all cancers(201;0.0793) CCTTCTGCACAGAGGGTTGCC 0.537 NA 18 70 0 0 0.006122 0 0 C10orf84 63877 broad.mit.edu 37 10 120095846 120095846 + Missense_Mutation SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:120095846A>G uc001ldo.2 - 3 349 c.82T>C c.(82-84)TCT>CCT p.S28P C10orf84_uc010qss.1_Missense_Mutation_p.S28P NM_022063 NP_071346 Q9H8W3 F204A_HUMAN hypothetical protein LOC63877 28 0 Colorectal(252;0.101) all cancers(201;0.0244) TTAAGTCCAGAGTTCTCCAAC 0.408 NA 6 60 0 0 0.001168 0 0 TCERG1L 256536 broad.mit.edu 37 10 133106605 133106605 + Missense_Mutation SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr10:133106605T>A uc001lkp.2 - 3 625 c.539A>T c.(538-540)GAG>GTG p.E180V NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 180 WW 1. large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CCTTGACTCCTCAGGATGTAT 0.473 NA 8 38 0 0 0.00308 0 0 OR52K2 119774 broad.mit.edu 37 11 4470612 4470612 + Silent SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:4470612T>C uc001lyz.1 + 1 43 c.43T>C c.(43-45)TTG>CTG p.L15L NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) AACTGCCTTCTTGTTGGTGGG 0.507 NA 9 60 0 0 0.006214 0 0 OR51T1 401665 broad.mit.edu 37 11 4903745 4903745 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:4903745C>A uc010qyp.1 + 1 697 c.697C>A c.(697-699)CTC>ATC p.L233I NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTTCTTCAGCTCTACCTGAA 0.453 NA 25 61 3.83957e-06 4.27184e-06 0.00278 1 0 OR52J3 119679 broad.mit.edu 37 11 5068178 5068178 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:5068178A>T uc010qyv.1 + 1 423 c.423A>T c.(421-423)CAA>CAT p.Q141H NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TGACATCCCAAGTGTTGGTGG 0.488 NA 9 40 0 0 0.006214 0 0 OR4C16 219428 broad.mit.edu 37 11 55339872 55339872 + Missense_Mutation SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:55339872T>A uc010rih.1 + 1 269 c.269T>A c.(268-270)ATC>AAC p.I90N NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) AAGACAACTATCTCCTTCAGC 0.448 NA 70 109 0 0 0.01441 0 0 SDHAF2 54949 broad.mit.edu 37 11 61205550 61205550 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:61205550C>G uc001nrt.2 + 3 357 c.335C>G c.(334-336)CCT>CGT p.P112R NM_017841 NP_060311 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 112 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding ovary(2) 2 ATTAACGAGCCTAGTAATGAC 0.388 NA Familial_Paragangliomas 17 24 0 0 0.010504 0 0 DAGLA 747 broad.mit.edu 37 11 61508674 61508674 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:61508674C>T uc001nsa.2 + 19 2135 c.2024C>T c.(2023-2025)TCT>TTT p.S675F NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 675 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GCTCTGCTCTCTGCAGCCAAG 0.647 NA 5 74 0 0 0.001168 0 0 GANAB 23193 broad.mit.edu 37 11 62393613 62393613 + Silent SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:62393613A>G uc001nub.2 - 23 2682 c.2649T>C c.(2647-2649)TTT>TTC p.F883F GANAB_uc001ntz.2_Silent_p.F70F|GANAB_uc001nua.2_Silent_p.F905F|GANAB_uc001nuc.2_Silent_p.F786F|GANAB_uc010rma.1_Silent_p.F791F|GANAB_uc010rmb.1_Silent_p.F769F NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 883 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 TTGGTGTCTCAAAGTGTCCTT 0.512 Melanoma(23;1005 1074 15747 18937) NA 15 215 0 0 0.003163 0 0 HYOU1 10525 broad.mit.edu 37 11 118925328 118925328 + Nonsense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:118925328G>A uc001puu.2 - 7 749 c.556C>T c.(556-558)CGA>TGA p.R186* HYOU1_uc001put.2_Nonsense_Mutation_p.R151*|HYOU1_uc010ryu.1_Nonsense_Mutation_p.R206*|HYOU1_uc010ryv.1_Nonsense_Mutation_p.R75*|HYOU1_uc001pux.3_Nonsense_Mutation_p.R186*|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Nonsense_Mutation_p.R186* NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 186 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AGCACAGCTCGGCGCTCGGCC 0.587 NA 6 47 0 0 0.001168 0 0 FGD6 55785 broad.mit.edu 37 12 95603382 95603382 + Missense_Mutation SNP G G A rs149076340 byFrequency TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr12:95603382G>A uc001tdp.3 - 2 1902 c.1678C>T c.(1678-1680)CGG>TGG p.R560W FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 560 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 TCTGAAGCCCGTTTAGGCATA 0.423 NA 4 95 0 0 0.000602 0 0 C12orf63 374467 broad.mit.edu 37 12 97102464 97102464 + Missense_Mutation SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr12:97102464A>G uc001tet.1 + 15 1960 c.1882A>G c.(1882-1884)AAT>GAT p.N628D NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 628 skin(6)|ovary(1) 7 AAATAAGTTTAATTTTGTTAA 0.323 NA 5 26 0 0 0.000602 0 0 FOXN4 121643 broad.mit.edu 37 12 109719362 109719362 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr12:109719362G>T uc001toe.3 - 9 1249 c.1144C>A c.(1144-1146)CCG>ACG p.P382T FOXN4_uc009zvg.2_Missense_Mutation_p.P179T|FOXN4_uc001tof.3_Missense_Mutation_p.P202T NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 382 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 TGCAGTGGCGGGGTCTGGGCT 0.657 NA 7 14 0.00198382 0.00209611 0.001984 1 0 RAB35 11021 broad.mit.edu 37 12 120536884 120536884 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr12:120536884C>T uc001txm.1 - 4 447 c.302G>A c.(301-303)CGG>CAG p.R101Q RAB35_uc010szg.1_5'UTR|RAB35_uc009zww.1_5'UTR|RAB35_uc010szh.1_Missense_Mutation_p.R101Q NM_006861 NP_006852 Q15286 RAB35_HUMAN RAB35, member RAS oncogene family 101 cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.248) GTGAAGCCACCGCTTGACGTT 0.587 NA 8 60 0 0 0.00308 0 0 ZNF268 10795 broad.mit.edu 37 12 133779003 133779003 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr12:133779003T>C uc010tcf.1 + 6 1061 c.731T>C c.(730-732)ATT>ACT p.I244T ZNF268_uc010tbv.1_Missense_Mutation_p.I83T|ZNF268_uc010tbw.1_Missense_Mutation_p.I83T|ZNF268_uc010tbx.1_Missense_Mutation_p.I104T|ZNF268_uc010tby.1_Missense_Mutation_p.I83T|ZNF268_uc010tbz.1_Missense_Mutation_p.I83T|ZNF268_uc010tca.1_Missense_Mutation_p.I83T|ZNF268_uc010tcb.1_Missense_Mutation_p.I104T|ZNF268_uc010tcc.1_Missense_Mutation_p.I83T|ZNF268_uc010tcd.1_Missense_Mutation_p.I83T|ZNF268_uc010tce.1_Missense_Mutation_p.I83T|ZNF268_uc010tcg.1_Missense_Mutation_p.I83T|ZNF268_uc010tch.1_Missense_Mutation_p.I244T NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 244 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CAAACTGTTATTGGAATAAAA 0.323 NA 5 8 0 0 0.000602 0 0 STOML3 161003 broad.mit.edu 37 13 39544447 39544447 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr13:39544447C>T uc001uwx.2 - 5 529 c.391G>A c.(391-393)GCT>ACT p.A131T STOML3_uc010tez.1_Missense_Mutation_p.A122T NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 131 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TTGACATTAGCCACTGCTGAG 0.468 NA 26 82 0 0 0.004656 0 0 KLHL1 57626 broad.mit.edu 37 13 70413107 70413107 + Splice_Site SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr13:70413107C>G uc001vip.2 - 6 2208 c.1414_splice c.e6+1 p.G472_splice KLHL1_uc010thm.1_Splice_Site_p.G411_splice NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GAATTAAATACCTTTGTTGTT 0.343 NA 16 19 0 0 0.006122 0 0 FERMT2 10979 broad.mit.edu 37 14 53325101 53325101 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr14:53325101C>A uc001xad.2 - 15 2092 c.2037G>T c.(2035-2037)TGG>TGT p.W679C FERMT2_uc001xac.2_Missense_Mutation_p.W686C|FERMT2_uc001xae.2_Missense_Mutation_p.W679C NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 679 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) CTATTCACACCCAACCACTGG 0.343 NA 4 47 0.000602214 0.000656961 0.000602 1 0 HSPA2 3306 broad.mit.edu 37 14 65008152 65008152 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr14:65008152G>A uc001xhj.2 + 2 661 c.585G>A c.(583-585)GAG>GAA p.E195E HSPA2_uc001xhk.3_Silent_p.E195E NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 195 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CGGGCGGCGAGAAGAACGTGC 0.637 Pancreas(136;1211 1835 24894 31984 38227) NA 11 121 0 0 0.013537 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68260457 68260457 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr14:68260457C>T uc001xka.2 - 14 2560 c.2421G>A c.(2419-2421)ATG>ATA p.M807I ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.M807I NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 807 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCCGGCCAGACATGGCACTCA 0.522 NA 4 45 0 0 0.009096 0 0 EXD1 161829 broad.mit.edu 37 15 41476627 41476627 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr15:41476627C>G uc001znk.2 - 10 1238 c.1047G>C c.(1045-1047)GAG>GAC p.E349D EXD1_uc001znj.2_Missense_Mutation_p.E147D|EXD1_uc010ucv.1_Missense_Mutation_p.E407D NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 349 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding ovary(1) 1 CTTTGACTTTCTCCTCTTTCC 0.398 NA 12 83 0 0 0.013537 0 0 ADAL 161823 broad.mit.edu 37 15 43627963 43627963 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr15:43627963G>T uc010udo.1 + 5 707 c.133G>T c.(133-135)GAT>TAT p.D45Y ADAL_uc001zrh.2_Missense_Mutation_p.D45Y NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 45 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) CCAGAAGCCAGATCTTAAAAT 0.383 NA 7 31 0.00198382 0.00209611 0.001984 1 0 PSMA4 5685 broad.mit.edu 37 15 78836557 78836557 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr15:78836557A>T uc002bdu.3 + 5 393 c.235A>T c.(235-237)ATA>TTA p.I79L PSMA4_uc010blf.2_Missense_Mutation_p.I79L|PSMA4_uc002bdv.3_Missense_Mutation_p.I8L|PSMA4_uc002bdw.3_Missense_Mutation_p.I55L|PSMA4_uc002bdx.3_Missense_Mutation_p.I8L NM_002789 NP_002780 P25789 PSA4_HUMAN proteasome alpha 4 subunit isoform 1 79 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity 0 TGTGGCAGGCATAACTTCTGA 0.358 NA 4 15 0 0 0.000602 0 0 TBC1D24 57465 broad.mit.edu 37 16 2549370 2549370 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:2549370G>A uc002cql.2 + 5 1295 c.1155G>A c.(1153-1155)CAG>CAA p.Q385Q TBC1D24_uc002cqk.2_Silent_p.Q379Q|TBC1D24_uc002cqm.2_Intron|TBC1D24_uc010bsm.2_Intron NM_020705 NP_065756 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 385 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity 0 TCTACTTCCAGTGTGAAGGAC 0.642 NA 3 29 0 0 0.004672 0 0 XYLT1 64131 broad.mit.edu 37 16 17221526 17221526 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:17221526G>A uc002dfa.2 - 10 2305 c.2220C>T c.(2218-2220)TCC>TCT p.S740S NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 740 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CTCTTACCTCGGAAAACTGAA 0.488 NA 15 142 0 0 0.004007 0 0 XYLT1 64131 broad.mit.edu 37 16 17292086 17292086 + Silent SNP C C T rs144531370 TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:17292086C>T uc002dfa.2 - 5 1357 c.1272G>A c.(1270-1272)GCG>GCA p.A424A NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 424 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 GGTAGTCGGCCGCACTCAGGT 0.622 NA 14 40 0 0 0.00245 0 0 SRCAP 10847 broad.mit.edu 37 16 30740307 30740307 + Silent SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:30740307G>T uc002dze.1 + 26 6064 c.5679G>T c.(5677-5679)CGG>CGT p.R1893R SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.R1688R NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1893 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGGAAAAGCGGAAGCGGCAGC 0.527 NA 20 80 1.28384e-07 1.47729e-07 0.012319 1 0 SLC9A5 6553 broad.mit.edu 37 16 67290871 67290871 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:67290871T>C uc002esm.2 + 7 1253 c.1190T>C c.(1189-1191)ATT>ACT p.I397T SLC9A5_uc010cee.2_Missense_Mutation_p.I102T|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 397 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CTGGACAAGATTGACCAAGTG 0.592 NA 10 96 0 0 0.013537 0 0 PLCG2 5336 broad.mit.edu 37 16 81960739 81960739 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:81960739G>A uc002fgt.2 + 23 2622 c.2470G>A c.(2470-2472)GTC>ATC p.V824I NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 824 SH3. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 ATCCAACTACGTCGAGGACAT 0.522 NA 8 148 0 0 0.004482 0 0 SERPINF1 5176 broad.mit.edu 37 17 1675164 1675164 + Splice_Site SNP A A C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:1675164A>C uc002ftl.2 + 5 597 c.440_splice c.e5-2 p.K147_splice SERPINF1_uc010cjw.2_Splice_Site NM_002615 NP_002606 P36955 PEDF_HUMAN serine (or cysteine) proteinase inhibitor, clade cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity ovary(1) 1 GCCTCTTCTCAGAGCTGCGCA 0.572 NA 3 28 0 0 0.000602 0 0 WSCD1 23302 broad.mit.edu 37 17 5991404 5991404 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:5991404C>T uc010cli.2 + 3 901 c.522C>T c.(520-522)TGC>TGT p.C174C WSCD1_uc002gcn.2_Silent_p.C174C|WSCD1_uc002gco.2_Silent_p.C174C|WSCD1_uc010clj.2_Intron NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 174 WSC 1. integral to membrane sulfotransferase activity 0 TCTCCCACTGCCAGGATGCGT 0.542 NA 7 64 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:21731144T>G uc002gyy.3 + 2 571 c.446T>G c.(445-447)CTG>CGG p.L149R SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA GTCCTGCGTCTGAGAGGTGGT 0.542 NA 6 95 0 0 0.001168 0 0 NLE1 54475 broad.mit.edu 37 17 33467047 33467047 + Silent SNP A A C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:33467047A>C uc002hiy.1 - 3 229 c.201T>G c.(199-201)GCT>GCG p.A67A NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR NM_018096 NP_060566 Q9NVX2 NLE1_HUMAN Notchless gene homolog isoform a 67 nucleolus breast(3)|ovary(1) 4 Ovarian(249;0.17) AGACGATCTCAGCATCGTGGA 0.552 NA 10 27 0 0 0.006214 0 0 VAT1 10493 broad.mit.edu 37 17 41170197 41170197 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:41170197G>A uc002icm.1 - 3 742 c.622C>T c.(622-624)CTG>TTG p.L208L VAT1_uc010cyw.1_Silent_p.L74L|VAT1_uc010whk.1_Silent_p.L140L NM_006373 NP_006364 Q99536 VAT1_HUMAN vesicle amine transport protein 1 208 QL -> HV (in Ref. 7; AAA95990). cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) GTACGGCACAGCTGCACGGCA 0.587 NA 10 80 0 0 0.008291 0 0 SP2 6668 broad.mit.edu 37 17 45994184 45994184 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:45994184G>A uc002imk.2 + 3 884 c.747G>A c.(745-747)AAG>AAA p.K249K SP2_uc002iml.2_Silent_p.K242K|uc002imm.2_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Sp2 transcription factor 249 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding 0 AAGCAAGGAAGAAGAGCCTTC 0.582 NA 12 133 0 0 0.013537 0 0 SPATA20 64847 broad.mit.edu 37 17 48627386 48627386 + Silent SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:48627386A>G uc002irf.2 + 7 996 c.855A>G c.(853-855)CGA>CGG p.R285R SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Silent_p.R241R|SPATA20_uc002ird.2_Silent_p.R301R|SPATA20_uc010wmv.1_Silent_p.R311R|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 285 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TCAGCCATCGACTGACTCAGG 0.592 NA 28 346 0 0 0.00632 0 0 KIF2B 84643 broad.mit.edu 37 17 51900728 51900728 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:51900728G>A uc002iua.2 + 1 490 c.334G>A c.(334-336)GCC>ACC p.A112T uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 112 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CCAGCGTACCGCCACGAAATG 0.602 NA 9 147 0 0 0.004482 0 0 KIF2B 84643 broad.mit.edu 37 17 51900914 51900914 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:51900914C>T uc002iua.2 + 1 676 c.520C>T c.(520-522)CGC>TGC p.R174C uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 174 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CCGAGCTAGACGCGCCCTCGA 0.542 NA 5 112 0 0 0.001168 0 0 PITPNC1 26207 broad.mit.edu 37 17 65688891 65688891 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr17:65688891C>T uc002jgc.2 + 9 1233 c.886C>T c.(886-888)CGG>TGG p.R296W PITPNC1_uc002jgb.2_3'UTR NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 296 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) AGATCGGCCCCGGAAAAAGTC 0.562 NA 12 89 0 0 0.013537 0 0 LONP1 9361 broad.mit.edu 37 19 5700829 5700829 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:5700829C>T uc002mcx.2 - 9 1510 c.1477G>A c.(1477-1479)GGC>AGC p.G493S LONP1_uc002mcy.2_Missense_Mutation_p.G429S|LONP1_uc010duh.2_Missense_Mutation_p.G234S|LONP1_uc010dui.2_Missense_Mutation_p.G477S|LONP1_uc002mcz.2_Missense_Mutation_p.G297S NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 493 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 TCCTCCATGCCGTAGTGGTCT 0.602 NA 4 64 0 0 0.009096 0 0 PNPLA6 10908 broad.mit.edu 37 19 7614968 7614968 + Missense_Mutation SNP T T G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:7614968T>G uc010xjq.1 + 16 2006 c.1811T>G c.(1810-1812)TTC>TGC p.F604C PNPLA6_uc002mgq.1_Missense_Mutation_p.F556C|PNPLA6_uc010xjp.1_Missense_Mutation_p.F530C|PNPLA6_uc002mgr.1_Missense_Mutation_p.F556C|PNPLA6_uc002mgs.2_Missense_Mutation_p.F595C NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 595 cNMP 2.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 GACTGCACCTTCCTGCGGATC 0.627 NA 7 79 0 0 0.00308 0 0 KEAP1 9817 broad.mit.edu 37 19 10610361 10610361 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:10610361C>T uc002moq.1 - 2 505 c.349G>A c.(349-351)GAG>AAG p.E117K KEAP1_uc002mor.1_Missense_Mutation_p.E117K NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 117 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATGCCCTGCTCCCGCAGCCCG 0.607 NA 8 34 0 0 0.00308 0 0 SPINT2 10653 broad.mit.edu 37 19 38774333 38774333 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:38774333T>C uc002ohr.1 + 2 504 c.173T>C c.(172-174)GTC>GCC p.V58A SPINT2_uc002ohs.1_Intron NM_021102 NP_066925 O43291 SPIT2_HUMAN serine protease inhibitor, Kunitz type, 2 58 Extracellular (Potential).|BPTI/Kunitz inhibitor 1. cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity 0 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TGGTACAATGTCACTGACGGA 0.552 NA 6 111 0 0 0.001984 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 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) TCGTAAGGGGTGCAGGGGACG 0.627 NA 8 30 0 0 0.003163 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49379184 49379184 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:49379184C>T uc002pky.3 + 3 2248 c.1979C>T c.(1978-1980)TCT>TTT p.S660F NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 660 apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TCCCGCTCGTCTGCTGCTGCA 0.562 NA 14 158 0 0 0.001855 0 0 OTOF 9381 broad.mit.edu 37 2 26705336 26705336 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:26705336T>C uc002rhk.2 - 14 1644 c.1517A>G c.(1516-1518)AAC>AGC p.N506S NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 506 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCACGTCGTTGACCTTGTC 0.577 GBM(102;732 1451 20652 24062 31372) NA 19 82 0 0 0.006122 0 0 MAPRE3 22924 broad.mit.edu 37 2 27248599 27248599 + Silent SNP C C T rs139273861 by1000genomes TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:27248599C>T uc002rhw.2 + 5 771 c.618C>T c.(616-618)AAC>AAT p.N206N MAPRE3_uc002rhx.2_Silent_p.N191N NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, 206 EB1 C-terminal. cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGAACTCAACCAACAGGTGA 0.597 NA 4 54 0 0 0.000602 0 0 RGPD3 653489 broad.mit.edu 37 2 107041237 107041237 + Silent SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:107041237T>A uc010ywi.1 - 20 3243 c.3186A>T c.(3184-3186)TCA>TCT p.S1062S NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1062 RanBD1 1. intracellular transport binding ovary(1) 1 TTACCCCCTGTGAATACAGAA 0.398 NA 59 362 0 0 0.01441 0 0 PCDP1 200373 broad.mit.edu 37 2 120388402 120388402 + Silent SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:120388402C>A uc002tmb.2 + 20 2133 c.1041C>A c.(1039-1041)GGC>GGA p.G347G PCDP1_uc010yyq.1_Silent_p.G477G NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 633 cilium calmodulin binding 0 Colorectal(110;0.196) AGCTCTCTGGCAAAACATCAG 0.473 NA 12 73 2.27111e-07 2.59555e-07 0.013537 1 0 SLC40A1 30061 broad.mit.edu 37 2 190428871 190428871 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:190428871C>G uc002uqp.3 - 7 1192 c.841G>C c.(841-843)GAG>CAG p.E281Q NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 281 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CAAGTAGGCTCTTGCTCATGT 0.498 NA 9 48 0 0 0.004482 0 0 PARD3B 117583 broad.mit.edu 37 2 206166352 206166352 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:206166352G>A uc002var.1 + 18 2764 c.2557G>A c.(2557-2559)GAG>AAG p.E853K PARD3B_uc010fub.1_Missense_Mutation_p.E853K|PARD3B_uc002vao.1_Missense_Mutation_p.E853K|PARD3B_uc002vap.1_Missense_Mutation_p.E791K|PARD3B_uc002vaq.1_Missense_Mutation_p.E784K NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 853 Lys-rich. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) gaaagtcaaggagaaaaagcg 0.244 NA 6 30 0 0 0.001168 0 0 DNER 92737 broad.mit.edu 37 2 230456436 230456436 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr2:230456436C>G uc002vpv.2 - 2 592 c.445G>C c.(445-447)GCA>CCA p.A149P NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 149 Extracellular (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGTCGGGGTGCCATGGATTCG 0.557 NA 4 37 0 0 0.009096 0 0 PSMF1 9491 broad.mit.edu 37 20 1108107 1108107 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:1108107C>G uc002wel.3 + 4 489 c.321C>G c.(319-321)AAC>AAG p.N107K PSMF1_uc010zpo.1_Missense_Mutation_p.N19K|PSMF1_uc002wem.3_Missense_Mutation_p.N107K|PSMF1_uc010zpp.1_Missense_Mutation_p.N107K|PSMF1_uc002wen.3_Missense_Mutation_p.N107K NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 107 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 TGACCCTGAACTTGGATGATT 0.448 NA 45 108 0 0 0.01441 0 0 ADAM33 80332 broad.mit.edu 37 20 3652284 3652284 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:3652284G>T uc002wit.2 - 16 1936 c.1849C>A c.(1849-1851)CTG>ATG p.L617M ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.L617M|ADAM33_uc002wis.2_Missense_Mutation_p.L139M|ADAM33_uc002wiu.2_Missense_Mutation_p.L617M|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Missense_Mutation_p.L133M NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 617 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 AGCAGGTCCAGCTGGGCACTG 0.637 NA 4 6 2.56e-06 2.88644e-06 0.009096 1 0 NCOA3 8202 broad.mit.edu 37 20 46264276 46264276 + Silent SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:46264276A>G uc002xtk.2 + 11 1528 c.1323A>G c.(1321-1323)TCA>TCG p.S441S NCOA3_uc010ght.1_Silent_p.S451S|NCOA3_uc002xtl.2_Silent_p.S441S|NCOA3_uc002xtm.2_Silent_p.S441S|NCOA3_uc002xtn.2_Silent_p.S441S|NCOA3_uc010zyc.1_Silent_p.S236S NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 441 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 ACATAGCTTCATTGACCCCTG 0.562 NA 15 199 0 0 0.003163 0 0 DDX27 55661 broad.mit.edu 37 20 47836000 47836000 + Silent SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:47836000C>G uc002xuh.2 + 1 169 c.108C>G c.(106-108)CTC>CTG p.L36L NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 36 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTGCGGACCTCGGCTTAATCG 0.602 NA 3 37 0 0 0.004672 0 0 VAPB 9217 broad.mit.edu 37 20 56993313 56993313 + Silent SNP G G A rs141383583 TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:56993313G>A uc002xza.2 + 2 376 c.105G>A c.(103-105)CCG>CCA p.P35P VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_5'UTR|VAPB_uc002xzc.2_Silent_p.P35P NM_004738 NP_004729 O95292 VAPB_HUMAN VAMP-associated protein B/C 35 Cytoplasmic (Potential).|MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(1) 1 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) TTGGCAACCCGACAGACCGAA 0.493 NA 15 488 0 0 0.00245 0 0 TAF4 6874 broad.mit.edu 37 20 60589671 60589671 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:60589671G>C uc002ybs.2 - 2 1453 c.1453C>G c.(1453-1455)CAG>GAG p.Q485E NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 485 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) ATGGTGGTCTGAGGCTGGGCA 0.632 NA 8 63 0 0 0.00308 0 0 SAMD10 140700 broad.mit.edu 37 20 62608328 62608328 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr20:62608328G>A uc002yhm.2 - 3 616 c.441C>T c.(439-441)ATC>ATT p.I147I SAMD10_uc002yhn.2_RNA NM_080621 NP_542188 Q9BYL1 SAM10_HUMAN sterile alpha motif domain containing 10 147 SAM. 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CTGTACCGGTGATGGCATGCT 0.592 NA 40 112 0 0 0.00623 0 0 EIF3D 8664 broad.mit.edu 37 22 36915565 36915565 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr22:36915565C>T uc003apq.2 - 8 714 c.598G>A c.(598-600)GAA>AAA p.E200K EIF3D_uc011amr.1_Missense_Mutation_p.E27K|EIF3D_uc003apr.2_Missense_Mutation_p.E200K|EIF3D_uc011ams.1_Missense_Mutation_p.E103K|EIF3D_uc011amt.1_Missense_Mutation_p.E151K NM_003753 NP_003744 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3 200 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity pancreas(1) 1 TCGTAGTATTCTAGGGCCCCA 0.507 NA 12 73 0 0 0.013537 0 0 CYTH4 27128 broad.mit.edu 37 22 37692042 37692042 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr22:37692042G>A uc003arf.2 + 4 286 c.170G>A c.(169-171)CGG>CAG p.R57Q CYTH4_uc003ard.3_Missense_Mutation_p.R57Q|CYTH4_uc003are.2_Missense_Mutation_p.R57Q|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 57 Potential.|SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GTCCACAGCCGGATGGCCCAG 0.627 NA 3 18 0 0 0.004672 0 0 NOL12 79159 broad.mit.edu 37 22 38084913 38084913 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr22:38084913G>A uc003atp.2 + 4 351 c.295G>A c.(295-297)GAC>AAC p.D99N NOL12_uc011anm.1_Missense_Mutation_p.D99N|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR NM_024313 NP_077289 Q9UGY1 NOL12_HUMAN nucleolar protein 12 99 nucleolus rRNA binding 0 Melanoma(58;0.0574) GGTGCAGTATGACCACCCCAA 0.632 NA 10 137 0 0 0.008291 0 0 WNT7B 7477 broad.mit.edu 37 22 46345949 46345949 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr22:46345949G>A uc003bgo.2 - 2 523 c.149C>T c.(148-150)GCC>GTC p.A50V WNT7B_uc010haa.2_Missense_Mutation_p.A54V NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 50 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) CTGGCAGATGGCACGCTGCCG 0.622 NA 5 33 0 0 0.000602 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266100 41266101 + Missense_Mutation DNP TC TC AA rs121913400 TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr3:41266100_41266101TC>AA uc010hia.1 + 4 253_254 c.97_98TC>AA c.(97-99)TCT>AAT p.S33N CTNNB1_uc003ckp.2_Missense_Mutation_p.S33N|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33N|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33N|CTNNB1_uc011azf.1_Missense_Mutation_p.S26N|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 33 S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TTACCTGGACTCTGGAATCCAT 0.49 Colon(6;3 56 14213 18255) S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 7 36 0 0 0.004672 0 0 DRD3 1814 broad.mit.edu 37 3 113850231 113850231 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr3:113850231G>A uc003ebd.2 - 7 1163 c.740C>T c.(739-741)CCG>CTG p.P247L DRD3_uc010hqn.1_Missense_Mutation_p.P247L|DRD3_uc003ebb.1_Missense_Mutation_p.P247L|DRD3_uc003ebc.1_Missense_Mutation_p.P247L NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 247 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CAGATGTGCCGGGTCAGGAGA 0.507 NA 4 74 0 0 0.000602 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921404 178921404 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr3:178921404C>G uc003fjk.2 + 5 1043 c.886C>G c.(886-888)CAA>GAA p.Q296E NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 296 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTTTATTCTCAACTGCCAAT 0.403 Colon(199;1504 1750 3362 26421 31210 32040) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 5 45 0 0 0.001168 0 0 ZBTB49 166793 broad.mit.edu 37 4 4317644 4317644 + Missense_Mutation SNP T T G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr4:4317644T>G uc003ghu.2 + 7 1743 c.1568T>G c.(1567-1569)GTA>GGA p.V523G ZBTB49_uc003ghv.2_Missense_Mutation_p.V6G|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Intron NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 523 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AGGAAGTTAGTAAAGCACAGA 0.478 NA 9 67 0 0 0.004482 0 0 AFF1 4299 broad.mit.edu 37 4 88035789 88035789 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr4:88035789C>T uc003hqj.3 + 11 2190 c.1783C>T c.(1783-1785)CCA>TCA p.P595S AFF1_uc011ccz.1_Missense_Mutation_p.P602S|AFF1_uc003hqk.3_Missense_Mutation_p.P595S|AFF1_uc011cda.1_Missense_Mutation_p.P233S NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 595 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GCAGGAGCCCCCACAAAGGCA 0.637 NA 3 27 0 0 0.004672 0 0 FAM190A 401145 broad.mit.edu 37 4 91230645 91230645 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr4:91230645G>A uc003hsv.3 + 2 1550 c.1210G>A c.(1210-1212)GCG>ACG p.A404T FAM190A_uc003hsu.3_Missense_Mutation_p.A404T|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A404T NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 404 large_intestine(1)|ovary(1) 2 TAAAGCAATAGCGGAACATGT 0.353 NA 21 61 0 0 0.00278 0 0 SLC39A8 64116 broad.mit.edu 37 4 103226270 103226270 + Splice_Site SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr4:103226270T>A uc003hwb.1 - 4 1082 c.553_splice c.e4-1 p.A185_splice SLC39A8_uc011ceo.1_Splice_Site_p.A185_splice|SLC39A8_uc003hwa.1_Splice_Site_p.A118_splice|SLC39A8_uc003hwc.2_Splice_Site_p.A185_splice NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) TCCAAATGCCTAAGGGAGAAA 0.353 NA 3 20 0 0 0.004672 0 0 FGG 2266 broad.mit.edu 37 4 155530801 155530801 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr4:155530801C>A uc003ioj.2 - 6 788 c.647G>T c.(646-648)GGA>GTA p.G216V FGG_uc003iog.2_Missense_Mutation_p.G216V|FGG_uc003ioh.2_Missense_Mutation_p.G224V|FGG_uc010ipx.2_Missense_Mutation_p.G44V|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.G224V NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 216 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CACAGTCCATCCATTTCCAGA 0.323 NA 4 55 0.00116845 0.00125833 0.001168 1 0 FGG 2266 broad.mit.edu 37 4 155530817 155530817 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr4:155530817C>T uc003ioj.2 - 6 772 c.631G>A c.(631-633)GAT>AAT p.D211N FGG_uc003iog.2_Missense_Mutation_p.D211N|FGG_uc003ioh.2_Missense_Mutation_p.D219N|FGG_uc010ipx.2_Missense_Mutation_p.D39N|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.D219N NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 211 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCAGACCCATCGATTTCACAG 0.348 NA 4 54 0 0 0.000602 0 0 MYO10 4651 broad.mit.edu 37 5 16674979 16674979 + Silent SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:16674979G>C uc003jft.3 - 35 5415 c.4947C>G c.(4945-4947)CTC>CTG p.L1649L MYO10_uc011cnb.1_Silent_p.L278L|MYO10_uc011cnc.1_Silent_p.L528L|MYO10_uc011cnd.1_Silent_p.L1006L|MYO10_uc011cne.1_Silent_p.L1006L|MYO10_uc010itx.2_Silent_p.L1271L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1649 MyTH4. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GATGGAACTTGAGATACTTGA 0.572 NA 9 157 0 0 0.006214 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54624545 54624545 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:54624545G>C uc003jpy.3 + 5 687 c.421G>C c.(421-423)GAT>CAT p.D141H SKIV2L2_uc011cqi.1_Missense_Mutation_p.D40H NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 141 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) GTTCATTCTTGATGCTTTTCA 0.373 Melanoma(2;92 134 23744 29976 33782) NA 3 39 0 0 0.004672 0 0 APC 324 broad.mit.edu 37 5 112170861 112170861 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:112170861A>T uc010jby.2 + 15 2337 c.1957A>T c.(1957-1959)AGG>TGG p.R653W APC_uc011cvt.1_Missense_Mutation_p.R635W|APC_uc003kpz.3_Missense_Mutation_p.R653W|APC_uc003kpy.3_Missense_Mutation_p.R653W|APC_uc010jbz.2_Missense_Mutation_p.R370W|APC_uc010jca.2_5'UTR NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 653 Leu-rich.|ARM 5. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGAGGACCACAGGTATATATA 0.333 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 4 17 0 0 0.009096 0 0 FSTL4 23105 broad.mit.edu 37 5 132648445 132648445 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:132648445C>G uc003kyn.1 - 6 846 c.628G>C c.(628-630)GAT>CAT p.D210H NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 210 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGTCTTCATCCAGGTCCTGC 0.512 NA 4 41 0 0 0.009096 0 0 PKD2L2 27039 broad.mit.edu 37 5 137230154 137230154 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:137230154G>A uc003lby.2 + 4 436 c.380G>A c.(379-381)GGA>GAA p.G127E PKD2L2_uc010jep.1_Missense_Mutation_p.G67E|PKD2L2_uc003lbw.1_Missense_Mutation_p.G127E|PKD2L2_uc003lbx.2_Missense_Mutation_p.G127E NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 127 Polycystin motif.|Extracellular (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATACTTCTAGGAGTTCCCAGA 0.383 NA 8 33 0 0 0.00308 0 0 SLC25A2 83884 broad.mit.edu 37 5 140682903 140682903 + Missense_Mutation SNP A A C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:140682903A>C uc003ljf.2 - 1 710 c.530T>G c.(529-531)CTA>CGA p.L177R NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 177 Helical; Name=4; (Potential).|Solcar 2. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) TTCTTGAAGTAGAGTACTCGA 0.448 NA 5 110 0 0 0.000602 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149215969 149215969 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:149215969G>T uc003lrc.2 + 8 1993 c.1951G>T c.(1951-1953)GCC>TCC p.A651S PPARGC1B_uc003lrb.1_Missense_Mutation_p.A651S|PPARGC1B_uc003lrd.2_Missense_Mutation_p.A612S|PPARGC1B_uc003lrf.2_Missense_Mutation_p.A630S|PPARGC1B_uc003lre.1_Missense_Mutation_p.A630S NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 651 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCAGGGGCTGCCCACAAGCT 0.612 NA 9 112 2.17888e-05 2.40823e-05 0.006214 1 0 CCDC69 26112 broad.mit.edu 37 5 150565642 150565642 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr5:150565642G>T uc003ltq.2 - 6 560 c.437C>A c.(436-438)GCC>GAC p.A146D CCDC69_uc010jhu.2_5'UTR|CCDC69_uc011dcq.1_RNA NM_015621 NP_056436 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 146 Potential. ovary(2) 2 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTCATTTTGGCCTGGAAAGC 0.522 NA 11 176 4.68919e-08 5.43299e-08 0.008291 1 0 GPX5 2880 broad.mit.edu 37 6 28500162 28500162 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:28500162G>T uc003nll.2 + 4 426 c.424G>T c.(424-426)GGT>TGT p.G142C GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_RNA NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 142 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) GGATGTGAATGGTGAAAAAGA 0.443 NA 5 44 0.00116845 0.00125833 0.001168 1 0 OR2J2 26707 broad.mit.edu 37 6 29141320 29141320 + Translation_Start_Site SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:29141320T>A uc011dlm.1 + 1 10 c.-92T>A c.(-94--90)TTTTG>TTATG NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGGATACTTTTGTCTTCAAT 0.358 NA 3 9 0 0 0.004672 0 0 MDC1 9656 broad.mit.edu 37 6 30675945 30675945 + Missense_Mutation SNP C C A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:30675945C>A uc003nrg.3 - 8 2851 c.2411G>T c.(2410-2412)GGC>GTC p.G804V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 804 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CCTCCCTCTGCCTTGAATCCC 0.532 NA Other_conserved_DNA_damage_response_genes 38 111 1.30998e-17 1.56083e-17 0.005524 1 0 NOTCH4 4855 broad.mit.edu 37 6 32168902 32168902 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:32168902G>A uc003obb.2 - 22 4270 c.4131C>T c.(4129-4131)CTC>CTT p.L1377L NOTCH4_uc003oba.2_Silent_p.L40L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1377 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 ACCCAGCACTGAGGGAGTCGG 0.592 NA 6 66 0 0 0.001168 0 0 RGL2 5863 broad.mit.edu 37 6 33263525 33263525 + Silent SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:33263525G>C uc003odv.2 - 7 913 c.780C>G c.(778-780)CTC>CTG p.L260L RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Silent_p.L178L|RGL2_uc011drb.1_Silent_p.L178L NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 260 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 GGATCAAATTGAGAAAAAGTT 0.532 NA 3 48 0 0 0.004672 0 0 TAPBP 6892 broad.mit.edu 37 6 33272909 33272909 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:33272909T>C uc003odx.1 - 4 896 c.725A>G c.(724-726)GAT>GGT p.D242G TAPBP_uc010jus.1_Missense_Mutation_p.D260G|TAPBP_uc003ody.2_Missense_Mutation_p.D242G|TAPBP_uc003odz.2_Missense_Mutation_p.D242G|TAPBP_uc010jut.1_Missense_Mutation_p.D155G|TAPBP_uc011drc.1_Missense_Mutation_p.D242G NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 242 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 CTCATCATCATCCCAAGCAGC 0.592 NA 32 43 0 0 0.012213 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423463 33423463 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:33423463G>C uc003oeq.2 + 2 854 c.586G>C c.(586-588)GTG>CTG p.V196L NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAGAGCCCTGTGGGAGGGGA 0.438 NA 8 81 0 0 0.00308 0 0 CUL9 23113 broad.mit.edu 37 6 43171224 43171224 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:43171224C>T uc003ouk.2 + 19 3994 c.3919C>T c.(3919-3921)CGG>TGG p.R1307W CUL9_uc003oul.2_Missense_Mutation_p.R1307W|CUL9_uc010jyk.2_Missense_Mutation_p.R459W NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1307 DOC. ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GCCACTGTTCCGGGAGCAGCT 0.612 NA 35 61 0 0 0.004289 0 0 ULBP2 80328 broad.mit.edu 37 6 150267642 150267642 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr6:150267642C>T uc003qno.2 + 3 557 c.484C>T c.(484-486)CAT>TAT p.H162Y ULBP2_uc011eeh.1_Missense_Mutation_p.H162Y|ULBP2_uc010kij.2_Missense_Mutation_p.H162Y NM_025217 NP_079493 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 precursor 162 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) GACAACGGTTCATCCTGGAGC 0.473 NA 18 92 0 0 0.006122 0 0 SDK1 221935 broad.mit.edu 37 7 4167093 4167093 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:4167093G>A uc003smx.2 + 26 4043 c.3904G>A c.(3904-3906)GAA>AAA p.E1302K SDK1_uc010kso.2_Missense_Mutation_p.E578K|SDK1_uc003smy.2_5'Flank NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1302 Fibronectin type-III 7. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ATCCGTGCCGGAACAGGACCA 0.537 NA 11 80 0 0 0.010729 0 0 HOXA11 3207 broad.mit.edu 37 7 27224464 27224464 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:27224464G>A uc003syx.2 - 1 372 c.300C>T c.(298-300)GCC>GCT p.A100A HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 100 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 CAGGCACGCCGGCCGCGCTGG 0.672 NA T NUP98 CML 8 57 0 0 0.00308 0 0 AEBP1 165 broad.mit.edu 37 7 44152266 44152266 + Missense_Mutation SNP C C T rs144799697 byFrequency TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:44152266C>T uc003tkb.2 + 18 2632 c.2327C>T c.(2326-2328)GCC>GTC p.A776V AEBP1_uc003tkc.3_Missense_Mutation_p.A351V|AEBP1_uc003tkd.2_Missense_Mutation_p.A26V NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 776 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TACGATATGGCCCGCACGCCT 0.652 NA 4 38 0 0 0.009096 0 0 PILRA 29992 broad.mit.edu 37 7 99987664 99987664 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:99987664C>T uc003uuo.1 + 3 820 c.608C>T c.(607-609)GCT>GTT p.A203V PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Intron|PILRA_uc003uuq.1_Intron NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 203 Helical; (Potential). interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTGGCAGTGGCTGTCACTGTG 0.582 NA 5 68 0 0 0.001168 0 0 RELN 5649 broad.mit.edu 37 7 103155858 103155858 + Silent SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:103155858A>G uc003vca.2 - 50 8053 c.7893T>C c.(7891-7893)GCT>GCC p.A2631A RELN_uc010liz.2_Silent_p.A2631A NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2631 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAATCTCTTTAGCATCAGGAG 0.483 NSCLC(146;835 1944 15585 22231 52158) NA 3 41 0 0 0.000602 0 0 NDUFB2 4708 broad.mit.edu 37 7 140396598 140396598 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:140396598C>T uc003vwa.2 + 1 118 c.54C>T c.(52-54)TTC>TTT p.F18F LOC100134713_uc011krf.1_RNA|NDUFB2_uc010lnl.2_RNA NM_004546 NP_004537 O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 18 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.00956) NADH(DB00157) GCCGCCTTTTCAGAAGCGGCT 0.706 NA 4 16 0 0 0.000602 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr7:140481411C>G uc003vwc.3 - 11 1458 c.1397G>C c.(1396-1398)GGA>GCA p.G466A NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 466 ATP (By similarity).|Protein kinase. G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma). 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.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378 Colon(40;35 892 2973 5743 27438) G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG) 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 44 0 0 0.007413 0 0 RP1L1 94137 broad.mit.edu 37 8 10466111 10466111 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:10466111C>T uc003wtc.2 - 4 5726 c.5497G>A c.(5497-5499)GAA>AAA p.E1833K NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1833 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCTATGCCTTCGGCCCCATCA 0.627 NA 14 194 0 0 0.004007 0 0 EXTL3 2137 broad.mit.edu 37 8 28600645 28600645 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:28600645C>T uc003xgz.1 + 6 3057 c.2464C>T c.(2464-2466)CGG>TGG p.R822W NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 822 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCAGGCCATCCGGGACATGGT 0.493 NA 23 127 0 0 0.014323 0 0 ASH2L 9070 broad.mit.edu 37 8 37993278 37993278 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:37993278C>T uc003xkt.3 + 14 1771 c.1713C>T c.(1711-1713)AGC>AGT p.S571S ASH2L_uc011lbk.1_Silent_p.S432S|ASH2L_uc003xku.3_Silent_p.S477S|ASH2L_uc010lwa.2_Intron NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 571 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TGTACAAGAGCTGCACGGTAC 0.408 NA 13 37 0 0 0.013537 0 0 CHD7 55636 broad.mit.edu 37 8 61748804 61748804 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:61748804C>T uc003xue.2 + 16 4428 c.3951C>T c.(3949-3951)CGC>CGT p.R1317R NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1317 Helicase C-terminal. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGATGGTGCGCTGCTTGGACA 0.478 NA 9 147 0 0 0.006214 0 0 PABPC1 26986 broad.mit.edu 37 8 101733732 101733732 + Missense_Mutation SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:101733732A>G uc003yjs.1 - 1 584 c.80T>C c.(79-81)CTC>CCC p.L27P PABPC1_uc011lhc.1_Missense_Mutation_p.L27P|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.L27P|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 27 RRM 1. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CTTCTCGTAGAGCATCGCCTC 0.667 NA 3 44 0 0 0.009096 0 0 FAM91A1 157769 broad.mit.edu 37 8 124792255 124792255 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:124792255G>C uc003yqv.2 + 7 641 c.580G>C c.(580-582)GAT>CAT p.D194H FAM91A1_uc011lik.1_Missense_Mutation_p.D194H|FAM91A1_uc011lil.1_5'UTR NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 194 ovary(1)|central_nervous_system(1) 2 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) ATGCGCTGTTGATAAGATCAT 0.328 NA 5 43 0 0 0.000602 0 0 NDUFB9 4715 broad.mit.edu 37 8 125559309 125559309 + Silent SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:125559309G>A uc003yrg.3 + 3 448 c.363G>A c.(361-363)AAG>AAA p.K121K NDUFB9_uc011lim.1_Silent_p.K121K NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 121 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|skin(1) 2 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) ACTTTGCCAAGAGAGAACAGT 0.453 NA 13 462 0 0 0.001855 0 0 ASAP1 50807 broad.mit.edu 37 8 131226829 131226829 + Silent SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:131226829C>T uc003yta.1 - 4 406 c.378G>A c.(376-378)AAG>AAA p.K126K ASAP1_uc011liw.1_Silent_p.K119K NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 126 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TGGACAGTTCCTTTGTAAGAG 0.363 NA 16 198 0 0 0.006122 0 0 FAM135B 51059 broad.mit.edu 37 8 139163899 139163899 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:139163899G>A uc003yuy.2 - 13 2990 c.2819C>T c.(2818-2820)ACG>ATG p.T940M FAM135B_uc003yux.2_Missense_Mutation_p.T841M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.T502M|FAM135B_uc003yvb.2_Missense_Mutation_p.T502M NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 940 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGCAGCTGACGTACAGCTCAA 0.478 NA HNSCC(54;0.14) 19 308 0 0 0.007413 0 0 JRK 8629 broad.mit.edu 37 8 143740275 143740275 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:143740275C>G uc003ywo.2 - 4 2177 c.1663G>C c.(1663-1665)GAG>CAG p.E555Q JRK_uc003ywp.2_3'UTR NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) CATTATGTCTCTGTAGAGGCC 0.532 NA 4 90 0 0 0.009096 0 0 C8orf73 642475 broad.mit.edu 37 8 144654722 144654722 + Missense_Mutation SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:144654722C>G uc010mff.2 - 1 207 c.163G>C c.(163-165)GAG>CAG p.E55Q C8orf73_uc010mfg.1_Missense_Mutation_p.E55Q NM_001100878 NP_001094348 A6NGR9 CH073_HUMAN hypothetical protein LOC642475 55 binding ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GTCTGTGGCTCAGCCTCAGGT 0.682 NA 5 54 0 0 0.000602 0 0 TLE1 7088 broad.mit.edu 37 9 84267154 84267154 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr9:84267154A>T uc004aly.2 - 6 788 c.347T>A c.(346-348)ATG>AAG p.M116K TLE1_uc004alz.2_Missense_Mutation_p.M116K|TLE1_uc011lsr.1_Missense_Mutation_p.M116K|TLE1_uc004ama.1_Missense_Mutation_p.M116K|TLE1_uc011lss.1_Missense_Mutation_p.M116K|TLE1_uc004amb.2_Missense_Mutation_p.M116K NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 116 Gln-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 CAATTCTGCCATGGTCACCTG 0.453 NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870) NA 43 99 0 0 0.01441 0 0 TMEFF1 8577 broad.mit.edu 37 9 103204575 103204575 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr9:103204575C>T uc004bay.1 + 1 388 c.355C>T c.(355-357)CTC>TTC p.L119F C9orf30_uc004baw.2_Missense_Mutation_p.L119F|C9orf30_uc004bax.2_RNA NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two Error:Variant_position_missing_in_Q8IYR6_after_alignment multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) GCCGGAGCAGCTCTACTTCCT 0.612 NA 6 51 0 0 0.001168 0 0 ARSD 414 broad.mit.edu 37 X 2835948 2835948 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:2835948A>T uc004cqy.2 - 5 836 c.760T>A c.(760-762)TGG>AGG p.W254R ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.W254R NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 254 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATACAGTTCCAGCGTCGCACA 0.522 NA 5 25 0 0 0.001168 0 0 PNPLA4 8228 broad.mit.edu 37 X 7870079 7870079 + Missense_Mutation SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:7870079T>A uc011mhq.1 - 6 743 c.581A>T c.(580-582)GAC>GTC p.D194V PNPLA4_uc011mhr.1_Missense_Mutation_p.D194V|PNPLA4_uc011mhs.1_Missense_Mutation_p.D107V NM_004650 NP_004641 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 194 lipid catabolic process triglyceride lipase activity 0 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) CTGCCCTTTGTCCTGCGGGGA 0.498 NA 19 57 0 0 0.010504 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254547 30254547 + Missense_Mutation SNP A A T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:30254547A>T uc004dca.1 + 5 1243 c.506A>T c.(505-507)AAG>ATG p.K169M NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 169 MAGE. 0 GTTGATTTAAAGAAAGTTGAT 0.413 NA 5 68 0 0 0.000602 0 0 DMD 1756 broad.mit.edu 37 X 31496492 31496492 + Splice_Site SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:31496492C>T uc004dda.1 - 59 8913 c.8669_splice c.e59-1 p.E2890_splice DMD_uc004dcq.1_Splice_Site_p.E161_splice|DMD_uc004dcr.1_Splice_Site_p.E430_splice|DMD_uc004dcs.1_Splice_Site_p.E430_splice|DMD_uc004dct.1_Splice_Site_p.E430_splice|DMD_uc004dcu.1_Splice_Site_p.E430_splice|DMD_uc004dcv.1_Splice_Site_p.E430_splice|DMD_uc004dcw.2_Splice_Site_p.E1546_splice|DMD_uc004dcx.2_Splice_Site_p.E1549_splice|DMD_uc004dcz.2_Splice_Site_p.E2767_splice|DMD_uc004dcy.1_Splice_Site_p.E2886_splice|DMD_uc004ddb.1_Splice_Site_p.E2882_splice NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGAGGCAGCTCTAAATTGGCA 0.433 NA 10 68 0 0 0.008291 0 0 FAM47A 158724 broad.mit.edu 37 X 34149740 34149740 + Missense_Mutation SNP G G A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:34149740G>A uc004ddg.2 - 1 689 c.656C>T c.(655-657)CCG>CTG p.P219L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 219 Pro-rich. ovary(4)|central_nervous_system(1) 5 ACTGGACACCGGAGTCTTGGG 0.657 NA 17 82 0 0 0.008871 0 0 ZNF673 55634 broad.mit.edu 37 X 46322632 46322632 + Splice_Site SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:46322632G>T uc004dgn.3 + 5 442 c.143_splice c.e5-1 p.G48_splice ZNF673_uc004dgp.3_Splice_Site_p.G48_splice|ZNF673_uc010nhl.2_Splice_Site_p.G48_splice|ZNF673_uc004dgm.3_Splice_Site_p.G48_splice NM_001129898 NP_001123370 Q5JUW0 ZN673_HUMAN zinc finger family member 673 isoform 1 regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 CCCCCGAACAGGGTATCTAGT 0.557 NA 19 41 8.34094e-07 9.46809e-07 0.008871 1 0 ZC3H12B 340554 broad.mit.edu 37 X 64721936 64721936 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:64721936T>C uc010nko.2 + 5 1334 c.1325T>C c.(1324-1326)ATT>ACT p.I442T NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 442 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 TGGCTGTCCATTGCCCGTAAG 0.567 NA 8 70 0 0 0.004482 0 0 FOXO4 4303 broad.mit.edu 37 X 70320855 70320855 + Nonsense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:70320855C>T uc004dys.1 + 2 1128 c.775C>T c.(775-777)CGA>TGA p.R259* FOXO4_uc010nkz.2_Nonsense_Mutation_p.R259*|FOXO4_uc004dyt.1_Nonsense_Mutation_p.R204* NM_005938 NP_005929 P98177 FOXO4_HUMAN forkhead box O4 259 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(2)|prostate(1) 3 Renal(35;0.156) CTTCCGTCCACGAAGCAGTTC 0.582 NA OREG0019856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 22 0 0 0.001984 0 0 KLHL4 56062 broad.mit.edu 37 X 86888891 86888891 + Silent SNP T T A TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:86888891T>A uc004efb.2 + 8 1874 c.1692T>A c.(1690-1692)GGT>GGA p.G564G KLHL4_uc004efa.2_Silent_p.G564G NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 564 Kelch 3. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCACAGTTGGTGTTGTTGCAT 0.418 NA 4 43 0 0 0.001984 0 0 RGAG1 57529 broad.mit.edu 37 X 109694853 109694853 + Silent SNP A A G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:109694853A>G uc004eor.1 + 3 1254 c.1008A>G c.(1006-1008)TTA>TTG p.L336L RGAG1_uc011msr.1_Silent_p.L336L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 336 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 TGTCCACATTACCAAAGCCAG 0.522 NA 32 375 0 0 0.008361 0 0 LRCH2 57631 broad.mit.edu 37 X 114357660 114357660 + Missense_Mutation SNP T T C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:114357660T>C uc010nqe.2 - 18 1976 c.1945A>G c.(1945-1947)ATA>GTA p.I649V LRCH2_uc004epz.2_Missense_Mutation_p.I632V NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) 649 CH. ovary(1) 1 AGTTGTCGTATTTGCTCTCGC 0.408 NA 4 26 0 0 0.000602 0 0 IGSF1 3547 broad.mit.edu 37 X 130408758 130408758 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:130408758C>T uc004ewd.2 - 18 3804 c.3566G>A c.(3565-3567)GGT>GAT p.G1189D IGSF1_uc004ewe.3_Missense_Mutation_p.G1183D|IGSF1_uc004ewf.2_Missense_Mutation_p.G1169D NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1189 Extracellular (Potential).|Ig-like C2-type 12. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 AAATTCAACACCTGGCAGGGG 0.502 NA 16 200 0 0 0.004007 0 0 MAP7D3 79649 broad.mit.edu 37 X 135323326 135323326 + Missense_Mutation SNP G G T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:135323326G>T uc004ezt.2 - 5 619 c.528C>A c.(526-528)AGC>AGA p.S176R MAP7D3_uc004ezs.2_Missense_Mutation_p.S175R|MAP7D3_uc011mwc.1_Missense_Mutation_p.S158R|MAP7D3_uc010nsa.1_Missense_Mutation_p.S175R NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 176 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TACCAGTTTTGCTCTCAGAAT 0.368 NA 4 32 0.00909568 0.00949114 0.009096 1 0 MCF2 4168 broad.mit.edu 37 X 138699760 138699760 + Missense_Mutation SNP C C T TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:138699760C>T uc004fau.2 - 8 1205 c.911G>A c.(910-912)CGT>CAT p.R304H MCF2_uc004fav.2_Missense_Mutation_p.R304H|MCF2_uc011mwl.1_Missense_Mutation_p.R265H|MCF2_uc010nsh.1_Missense_Mutation_p.R304H|MCF2_uc011mwm.1_Missense_Mutation_p.R265H|MCF2_uc011mwn.1_Missense_Mutation_p.R449H|MCF2_uc004faw.2_Missense_Mutation_p.R364H|MCF2_uc011mwo.1_Missense_Mutation_p.R364H NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 304 Spectrin. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) AGAAAGGTAACGTAGCTCATT 0.393 NA 73 117 0 0 0.01441 0 0 FMR1 2332 broad.mit.edu 37 X 147018985 147018985 + Missense_Mutation SNP G G C TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chrX:147018985G>C uc010nst.2 + 11 1180 c.991G>C c.(991-993)GAA>CAA p.E331Q FMR1_uc004fcj.2_Missense_Mutation_p.E329Q|FMR1_uc004fck.3_Missense_Mutation_p.E331Q|FMR1_uc004fcl.3_Missense_Mutation_p.E192Q|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 331 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTTTACCAAGGAAATTATGCC 0.269 NA Fragile_X_syndrome 4 66 0 0 0.009096 0 0 CBL 867 broad.mit.edu 37 11 119149277 119149288 + In_Frame_Del DEL ATCGTGGTAGAT ATCGTGGTAGAT - rs148368481 TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 ATCGTGGTAGAT ATCGTGGTAGAT - - ATCGTGGTAGAT ATCGTGGTAGAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:119149277_119149288delATCGTGGTAGAT uc001pwe.2 + 9 1423_1434 c.1285_1296delATCGTGGTAGAT c.(1285-1296)ATCGTGGTAGATdel p.IVVD429del NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 429_432 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.G397_I429del(1)|p.I429_F434del(1)|p.E366_K477del(1) haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TACTGAACCCATCGTGGTAGATCCGTTTGATC 0.462 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 22 68 --- --- --- --- NA NA NA NA NA SNX19 399979 broad.mit.edu 37 11 130784287 130784287 + Frame_Shift_Del DEL G G - TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr11:130784287delG uc001qgk.3 - 1 2096 c.1548delC c.(1546-1548)TTCfs p.F516fs SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Frame_Shift_Del_p.F516fs|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 516 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GCTCAAAGCTGAAGGTGGCTG 0.537 NA 8 74 --- --- --- --- NA NA NA NA NA BTG1 694 broad.mit.edu 37 12 92538035 92538041 + Frame_Shift_Del DEL AGGACAC AGGACAC - TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 AGGACAC AGGACAC - - AGGACAC AGGACAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr12:92538035_92538041delAGGACAC uc001tby.3 - 2 693_699 c.331_337delGTGTCCT c.(331-339)GTGTCCTACfs p.V111fs BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|uc001tca.2_5'Flank NM_001731 NP_001722 P62324 BTG1_HUMAN B-cell translocation protein 1 111_113 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity 0 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) CCAATTCTGTAGGACACTTCATAGGGG 0.531 NA T MYC BCLL OREG0022024 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 63 --- --- --- --- NA NA NA NA NA IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr16:3119304_3119305insG uc002cto.2 + 6 864_865 c.653_654insG c.(652-654)GACfs p.D218fs IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 218 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 CCACGGGGGGACAAGGAGGAGC 0.574 NA 9 240 --- --- --- --- NA NA NA NA NA GRLF1 2909 broad.mit.edu 37 19 47503733 47503735 + In_Frame_Del DEL CAG CAG - TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr19:47503733_47503735delCAG uc010ekv.2 + 6 4288_4290 c.4288_4290delCAG c.(4288-4290)CAGdel p.Q1431del NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1431 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) ACTCTTTATCCAGCAGTGCCCCT 0.596 NA 42 119 --- --- --- --- NA NA NA NA NA MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 CAG CAG - - CAG CAG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr22:20920814_20920816delCAG uc002zsp.2 + 7 831_833 c.751_753delCAG c.(751-753)CAGdel p.Q262del MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.2_In_Frame_Del_p.Q262del|MED15_uc010gso.2_In_Frame_Del_p.Q262del|MED15_uc002zsr.2_In_Frame_Del_p.Q236del|MED15_uc011ahs.1_In_Frame_Del_p.Q236del|MED15_uc002zss.2_In_Frame_Del_p.Q181del|MED15_uc011ahu.1_5'UTR NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.315 NA 7 55 --- --- --- --- NA NA NA NA NA DZIP3 9666 broad.mit.edu 37 3 108366847 108366847 + Frame_Shift_Del DEL A A - TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr3:108366847delA uc003dxd.2 + 16 2272 c.1850delA c.(1849-1851)GAGfs p.E617fs DZIP3_uc003dxf.1_Frame_Shift_Del_p.E617fs|DZIP3_uc011bhm.1_Frame_Shift_Del_p.E68fs|DZIP3_uc003dxe.1_Frame_Shift_Del_p.E617fs|DZIP3_uc003dxg.1_Frame_Shift_Del_p.E340fs NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 617 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTCTCATGGAGTACAATATA 0.333 NA 12 68 --- --- --- --- NA NA NA NA NA SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 03e4e53c-0d21-4492-af79-b70a90d32dff 7be9ef7a-2d28-474f-8c51-c17dabed684c g.chr8:70514026delT uc010lza.1 + 10 1740 c.1023delT c.(1021-1023)CCTfs p.P341fs SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 NA 8 1371 --- --- --- --- NA NA NA NA NA