Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values HSPG2 3339 broad.mit.edu 37 1 22154901 22154901 + Missense_Mutation SNP G G A rs146179360 byFrequency TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:22154901G>A uc009vqd.3 - 88 12299 c.12259C>T c.(12259-12261)Cgg>Tgg p.R4087W HSPG2_uc001bfi.3_Missense_Mutation_p.R103W|HSPG2_uc001bfj.3_Missense_Mutation_p.R4086W NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 4086 Laminin G-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGGTCCAGCCGTTTGCCATTC 0.597 GRHL3 57822 broad.mit.edu 37 1 24661135 24661135 + Missense_Mutation SNP G G T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:24661135G>T uc021oiw.1 + 3 435 c.205_splice c.e3-1 p.G69_splice GRHL3_uc001bix.3_Splice_Site_p.G69_splice|GRHL3_uc021oix.1_Splice_Site_p.G23_splice|GRHL3_uc001biy.3_Splice_Site_p.G74_splice|GRHL3_uc001biz.3_Splice_Site NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 69 Transcription activation. regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CTCTTCTCAGGGTCCCAAGGA 0.552 FAM73A 374986 broad.mit.edu 37 1 78338781 78338781 + Silent SNP G G C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:78338781G>C uc010ork.2 + 14 1691 c.1659G>C c.(1657-1659)ctG>ctC p.L553L FAM73A_uc001dhx.3_Silent_p.L552L|FAM73A_uc010orl.2_Silent_p.L515L NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA. 552 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) GAAATTCTCTGTATGATTTAT 0.358 TTLL7 79739 broad.mit.edu 37 1 84408356 84408356 + Silent SNP A A T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:84408356A>T uc001djc.3 - 6 909 c.513T>A c.(511-513)tcT>tcA p.S171S TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA. 171 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TTCTTATCAAAGAAATCCTAT 0.294 KCNA10 3744 broad.mit.edu 37 1 111060530 111060530 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:111060530G>A uc001dzt.1 - 0 1268 c.880C>T c.(880-882)Ccc>Tcc p.P294S NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 294 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GTCTTGCTGGGGCAGACCACG 0.512 NBPF10 100132406 broad.mit.edu 37 1 145360624 145360624 + Silent SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:145360624G>A uc021oul.1 + 73 9284 c.9249G>A c.(9247-9249)tcG>tcA p.S3083S NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3083 p.S3083S(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGTTATTCGACTCCTTCAG 0.478 FLG2 388698 broad.mit.edu 37 1 152326101 152326101 + Silent SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:152326101T>C uc001ezw.4 - 2 4234 c.4161A>G c.(4159-4161)agA>agG p.R1387R AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1387 calcium ion binding|structural molecule activity p.E1386D(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGTTTCATGTCTCTCATGAA 0.507 RNPEP 6051 broad.mit.edu 37 1 201966632 201966632 + Missense_Mutation SNP A A T rs114130028 TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:201966632A>T uc001gxd.3 + 4 1069 c.1040A>T c.(1039-1041)aAt>aTt p.N347I RNPEP_uc001gxe.3_Missense_Mutation_p.N48I NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 347 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TTCTGGCTCAATGAAGGTTTC 0.542 RPS6KC1 26750 broad.mit.edu 37 1 213414537 213414537 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr1:213414537T>C uc010ptr.2 + 10 1877 c.1718T>C c.(1717-1719)tTc>tCc p.F573S RPS6KC1_uc001hkd.3_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.2_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.2_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.3_Missense_Mutation_p.F392S NM_012424 NP_036556 Q96S38 KS6C1_HUMAN Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA. 573 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CTGAAGTTCTTCCCCAACGAT 0.458 OR4S1 256148 broad.mit.edu 37 11 48328474 48328474 + Missense_Mutation SNP G G T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr11:48328474G>T uc010rhu.2 + 0 700 c.700G>T c.(700-702)Gct>Tct p.A234S NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CCGGCGTAAGGCTGTCTCCAC 0.468 CD5 921 broad.mit.edu 37 11 60890382 60890382 + Missense_Mutation SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr11:60890382A>G uc009ynk.3 + 6 1206 c.1103A>G c.(1102-1104)cAg>cGg p.Q368R NM_014207 NP_055022 P06127 CD5_HUMAN Homo sapiens CD5 molecule (CD5), mRNA. 368 SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TCCCCAGGCCAGGATCCAAAC 0.657 TUT1 64852 broad.mit.edu 37 11 62343579 62343579 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr11:62343579G>A uc001nto.2 - 8 1764 c.1726C>T c.(1726-1728)Ccc>Tcc p.P576S EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank NM_022830 NP_073741 Q9H6E5 STPAP_HUMAN Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA. 538 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGATTCAGGGGGCCAAGGCGC 0.637 C11orf92 399948 broad.mit.edu 37 11 111166838 111166838 + Silent SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr11:111166838A>G uc001pld.3 - 1 c.2775T>C C11orf92_uc001ple.3_Non-coding_Transcript Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA. endometrium(1)|large_intestine(1)|lung(1) 3 ATTAATGTTGAGCTACAAACC 0.433 BUD13 84811 broad.mit.edu 37 11 116627935 116627935 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr11:116627935G>A uc001ppn.3 - 8 1727 c.1693C>T c.(1693-1695)Cgc>Tgc p.R565C BUD13_uc001ppo.3_Missense_Mutation_p.R431C NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA. 565 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CCACTGTAGCGAGGTCTCACT 0.413 PLEKHG6 55200 broad.mit.edu 37 12 6424277 6424277 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr12:6424277G>A uc001qnr.3 + 3 549 c.401G>A c.(400-402)gGt>gAt p.G134D PLEKHG6_uc001qns.3_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.2_Missense_Mutation_p.G102D NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 134 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 ATAGGAGAGGGTGGCGACAGT 0.632 LRP1 4035 broad.mit.edu 37 12 57563089 57563089 + Frame_Shift_Del DEL G G - TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr12:57563089delG uc001snd.3 + 20 3629 c.3163_splice c.e20+1 p.A1055_splice LRP1_uc009zpi.1_Splice_Site NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1055 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCACCAACCAGGGTGGGCACC 0.622 LRRIQ1 84125 broad.mit.edu 37 12 85450521 85450521 + Silent SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr12:85450521T>C uc001tac.3 + 7 2061 c.1950T>C c.(1948-1950)gcT>gcC p.A650A LRRIQ1_uc021rbo.1_Silent_p.A528A|LRRIQ1_uc001taa.1_Silent_p.A625A NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 650 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) AAGACAATGCTTGGAATAGTG 0.313 NR2C1 7181 broad.mit.edu 37 12 95442924 95442924 + Missense_Mutation SNP G G T rs149986233 TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr12:95442924G>T uc001tdm.4 - 8 1307 c.1051C>A c.(1051-1053)Cac>Aac p.H351N NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdn.4_Missense_Mutation_p.H351N|NR2C1_uc001tdo.4_Missense_Mutation_p.H351N NM_003297 NP_003288 P13056 NR2C1_HUMAN Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA. 351 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 GTGATTAGGTGTACACTTCCT 0.443 ELK3 2004 broad.mit.edu 37 12 96640864 96640864 + Silent SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr12:96640864C>T uc001teo.1 + 2 633 c.354C>T c.(352-354)ggC>ggT p.G118G NM_005230 NP_005221 P41970 ELK3_HUMAN Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA. 118 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CTCCGGAGGGCCGCGAGGCCC 0.612 TPTE2 93492 broad.mit.edu 37 13 20039439 20039439 + Missense_Mutation SNP C C T rs146223410 TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr13:20039439C>T uc001umd.3 - 9 843 c.632G>A c.(631-633)cGa>cAa p.R211Q TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R100Q|TPTE2_uc001ume.3_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 211 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R134Q(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CCTTGTGTATCGCCTTTTGTT 0.308 GZMB 3002 broad.mit.edu 37 14 25102156 25102156 + Silent SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr14:25102156G>A uc001wps.2 - 1 234 c.168C>T c.(166-168)gaC>gaT p.D56D GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_Non-coding_Transcript NM_004131 NP_004122 P10144 GRAB_HUMAN Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA. 56 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2) 13 GBM - Glioblastoma multiforme(265;0.028) GCACGAAGTCGTCTCGTATCA 0.572 RYR3 6263 broad.mit.edu 37 15 34137199 34137199 + Missense_Mutation SNP G G T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr15:34137199G>T uc001zhi.3 + 92 13503 c.13433G>T c.(13432-13434)cGt>cTt p.R4478L RYR3_uc010bar.3_Missense_Mutation_p.R4473L NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 4478 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCAACCCTGCGTGCCCTGGCC 0.502 LACTB 114294 broad.mit.edu 37 15 63433763 63433763 + Missense_Mutation SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr15:63433763A>G uc002alw.3 + 5 1475 c.1403A>G c.(1402-1404)gAa>gGa p.E468G NM_032857 NP_116246 P83111 LACTB_HUMAN Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 468 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 GGTGTTGTGGAAAGGAAACAA 0.483 BAIAP3 8938 broad.mit.edu 37 16 1392020 1392020 + Silent SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr16:1392020G>A uc002clk.2 + 9 1073 c.915G>A c.(913-915)gcG>gcA p.A305A BAIAP3_uc010uuz.2_Silent_p.A270A|BAIAP3_uc010uva.2_Silent_p.A242A|BAIAP3_uc021tag.1_Silent_p.A247A|BAIAP3_uc002clj.3_Silent_p.A287A|BAIAP3_uc010uvb.2_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A NM_003933 NP_001186026 O94812 BAIP3_HUMAN Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA. 305 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) TGGTAGAAGCGTGCAGGAAGC 0.617 PPL 5493 broad.mit.edu 37 16 4952435 4952435 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr16:4952435T>C uc002cyd.1 - 3 500 c.410A>G c.(409-411)aAc>aGc p.N137S NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 137 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGCCGCCCAGTTGACCTGTGG 0.637 TP53 7157 broad.mit.edu 37 17 7577517 7577517 + Missense_Mutation SNP A A C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr17:7577517A>C uc002gim.2 - 6 958 c.764T>G c.(763-765)aTc>aGc p.I255S TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.3_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 255 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I255S(18)|p.I255F(18)|p.I255del(14)|p.I255T(14)|p.I255N(14)|p.0?(8)|p.I254F(7)|p.I254S(6)|p.I254V(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCCAGTGTGATGATGGTGAG 0.582 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr17:7578263G>A uc002gim.2 - 5 780 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) POLDIP2 26073 broad.mit.edu 37 17 26675209 26675209 + Silent SNP C C A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr17:26675209C>A uc002haz.3 - 11 1165 c.1035G>T c.(1033-1035)cgG>cgT p.R345R POLDIP2_uc010wag.2_Non-coding_Transcript NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA. 347 ApaG. mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGGGAGGAATCCGAACATCAA 0.547 CDK12 51755 broad.mit.edu 37 17 37618715 37618716 + Frame_Shift_Ins INS - - A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr17:37618715_37618716insA uc010cvv.3 + 0 977_978 c.391_392insA c.(391-393)gaafs p.E131fs CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.E131fs NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 131 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GACCGAAAAAGAAAAAAGCCAA 0.520 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) ZNF544 27300 broad.mit.edu 37 19 58772645 58772645 + Missense_Mutation SNP A A C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr19:58772645A>C uc010euo.3 + 6 1147 c.673A>C c.(673-675)Agt>Cgt p.S225R ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.S197R|ZNF544_uc010yhy.2_Missense_Mutation_p.S197R|ZNF544_uc002qrt.4_Missense_Mutation_p.S83R|ZNF544_uc002qru.4_Missense_Mutation_p.S83R|BC063675_uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN Homo sapiens zinc finger protein 544 (ZNF544), mRNA. 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TTTCTGTCAGAGTATTTACTT 0.378 EPAS1 2034 broad.mit.edu 37 2 46603736 46603736 + Frame_Shift_Del DEL C C - TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr2:46603736delC uc002ruv.3 + 8 1603 c.1093delC c.(1093-1095)cccfs p.P365fs NM_001430 NP_001421 Q99814 EPAS1_HUMAN Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. 365 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CCTGTTCAAGCCCCACCTGAT 0.493 SPTBN1 6711 broad.mit.edu 37 2 54856159 54856159 + Missense_Mutation SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr2:54856159C>T uc002rxu.3 + 13 2137 c.1888C>T c.(1888-1890)Cgc>Tgc p.R630C SPTBN1_uc002rxv.1_Missense_Mutation_p.R630C|SPTBN1_uc002rxx.3_Missense_Mutation_p.R617C NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 630 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GGCGGCTGAGCGCAGGGCCCG 0.582 GALNT13 114805 broad.mit.edu 37 2 155099286 155099286 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr2:155099286G>A uc002tyt.4 + 3 658 c.554G>A c.(553-555)cGc>cAc p.R185H GALNT13_uc002tyr.4_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 185 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 ATGGAAGAACGCTCTGGGTTA 0.388 MDH1B 130752 broad.mit.edu 37 2 207615789 207615789 + Silent SNP G G A rs146327472 byFrequency TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr2:207615789G>A uc002vbs.3 - 5 976 c.921C>T c.(919-921)gaC>gaT p.D307D MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.D307D|MDH1B_uc021vvm.1_Silent_p.D209D NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA. 307 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) AAATGATCACGTCTTTAATGT 0.318 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr2:209113112C>T uc002vcs.3 - 3 641 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma PANX2 56666 broad.mit.edu 37 22 50615879 50615879 + Nonsense_Mutation SNP C C A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr22:50615879C>A uc003bjn.4 + 1 738 c.738C>A c.(736-738)tgC>tgA p.C246* PANX2_uc003bjp.4_Nonsense_Mutation_p.C112*|PANX2_uc003bjo.4_Nonsense_Mutation_p.C246* NM_052839 NP_443071 Q96RD6 PANX2_HUMAN Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA. 246 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CCTACCTGTGCACCTACTACG 0.706 ROBO1 6091 broad.mit.edu 37 3 78656067 78656070 + Frame_Shift_Del DEL TCTG TCTG - TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr3:78656067_78656070delTCTG uc003dqe.2 - 28 4765_4768 c.4557_4560delCAGA c.(4555-4560)gacagafs p.D1519fs ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 1519 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGTCTGATGATCTGTCTGTTCTTG 0.485 POLQ 10721 broad.mit.edu 37 3 121230744 121230744 + Missense_Mutation SNP G G C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr3:121230744G>C uc003eee.4 - 9 1730 c.1601C>G c.(1600-1602)gCt>gGt p.A534G NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 534 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTCCAGAATAGCTCGTATCAT 0.358 DNA polymerases (catalytic subunits) PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr3:178936091G>A uc003fjk.3 + 9 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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 p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 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) TGAAATCACTGAGCAGGAGAA 0.353 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) EIF4G1 1981 broad.mit.edu 37 3 184052651 184052651 + Missense_Mutation SNP C C G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr3:184052651C>G uc003fnp.3 + 32 5026 c.4755C>G c.(4753-4755)ttC>ttG p.F1585L EIF4G1_uc010hxx.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnt.3_Missense_Mutation_p.F1296L|EIF4G1_uc010hxy.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnq.3_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.3_Missense_Mutation_p.F1421L|EIF4G1_uc003fns.3_Missense_Mutation_p.F1545L|EIF4G1_uc003fnv.4_Missense_Mutation_p.F1586L|EIF4G1_uc003fnw.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnx.3_Missense_Mutation_p.F1390L|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank NM_198241 NP_937885 Q04637 IF4G1_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA. 1585 EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCACAGCCTTCTTCAAGTGGC 0.607 SEL1L3 23231 broad.mit.edu 37 4 25819779 25819779 + Silent SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr4:25819779C>T uc003gru.4 - 8 1697 c.1545G>A c.(1543-1545)ctG>ctA p.L515L NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA. 515 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GATCCATCTCCAGCAATGCCT 0.537 WDR19 57728 broad.mit.edu 37 4 39218764 39218764 + Missense_Mutation SNP A A T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr4:39218764A>T uc003gtv.3 + 12 1414 c.1260A>T c.(1258-1260)aaA>aaT p.K420N WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.2_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN Homo sapiens WD repeat domain 19 (WDR19), mRNA. 420 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CTGTGAAAAAATTGAAAGATA 0.343 ZAR1 326340 broad.mit.edu 37 4 48494815 48494815 + Missense_Mutation SNP C C G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr4:48494815C>G uc003gyd.3 + 1 996 c.996C>G c.(994-996)tgC>tgG p.C332W NM_175619 NP_783318 Q86SH2 ZAR1_HUMAN Homo sapiens zygote arrest 1 (ZAR1), mRNA. 332 multicellular organismal development cytoplasm|membrane bile acid:sodium symporter activity endometrium(1)|large_intestine(4) 5 ATTACCACTGCAAGGACTGCA 0.418 POLR2B 5431 broad.mit.edu 37 4 57890238 57890238 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr4:57890238G>A uc003hcl.1 + 20 2967 c.2924G>A c.(2923-2925)cGt>cAt p.R975H POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 975 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) ATCCCCTCTCGTATGACTATT 0.378 WWC2 80014 broad.mit.edu 37 4 184210574 184210574 + Frame_Shift_Del DEL C C - TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr4:184210574delC uc010irx.3 + 20 3352 c.3170delC c.(3169-3171)acafs p.T1057fs WWC2_uc003ivk.4_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.4_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.3_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.4_Frame_Shift_Del_p.T185fs NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA. 1057 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) CTTAGAAGAACAACACAGGAA 0.537 MARCH6 10299 broad.mit.edu 37 5 10387160 10387160 + Missense_Mutation SNP C C G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr5:10387160C>G uc003jet.1 + 4 572 c.389C>G c.(388-390)cCa>cGa p.P130R MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R NM_005885 NP_005876 O60337 MARH6_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA. 130 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 CTGACGCTGCCATTAGATATG 0.423 ACOT12 134526 broad.mit.edu 37 5 80643615 80643615 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr5:80643615T>C uc003khl.4 - 5 686 c.631A>G c.(631-633)Aca>Gca p.T211A RNU5E-1_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA. 211 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GTAGCCACTGTCTCCATCCAC 0.498 STARD4 134429 broad.mit.edu 37 5 110842033 110842033 + Silent SNP T T G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr5:110842033T>G uc003kph.1 - 2 234 c.150A>C c.(148-150)ggA>ggC p.G50G STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_Non-coding_Transcript|STARD4_uc003kpj.2_Silent_p.G50G NM_139164 NP_631903 Q96DR4 STAR4_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA. 50 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) CTTACAGATATCCATTAAATT 0.303 SOX4 6659 broad.mit.edu 37 6 21595085 21595085 + Missense_Mutation SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr6:21595085C>T uc003ndi.3 + 0 1114 c.320C>T c.(319-321)cCt>cTt p.P107L NM_003107 NP_003098 Q06945 SOX4_HUMAN Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA. 107 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GACAAGATCCCTTTCATTCGA 0.602 VARS2 57176 broad.mit.edu 37 6 30893483 30893483 + Missense_Mutation SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr6:30893483A>G uc011dmz.2 + 27 3119 c.3038A>G c.(3037-3039)tAc>tGc p.Y1013C VARS2_uc003nsc.2_Missense_Mutation_p.Y983C|VARS2_uc011dmx.2_Missense_Mutation_p.Y983C|VARS2_uc011dmy.2_Missense_Mutation_p.Y843C|VARS2_uc011dna.2_Missense_Mutation_p.Y981C|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.Y421C|VARS2_uc010jsg.2_Missense_Mutation_p.Y355C|VARS2_uc010jsh.2_Missense_Mutation_p.Y127C NM_001167734 NP_001161205 Q5ST30 SYVM_HUMAN Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA. 983 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 GCTCAAGTCTACATGGAGCTG 0.647 PHF1 5252 broad.mit.edu 37 6 33382595 33382595 + Silent SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr6:33382595A>G uc003oeh.3 + 10 1274 c.1038A>G c.(1036-1038)ggA>ggG p.G346G PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.G346G|PHF1_uc010jux.3_Silent_p.G146G NM_024165 NP_077084 O43189 PHF1_HUMAN Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA. 346 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CTGGAGATGGAGCACTCACCA 0.552 OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LMBRD1 55788 broad.mit.edu 37 6 70411840 70411840 + Silent SNP G G C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr6:70411840G>C uc003pfa.3 - 9 1197 c.921C>G c.(919-921)gtC>gtG p.V307V LMBRD1_uc003pez.3_Silent_p.V234V|LMBRD1_uc010kal.3_Silent_p.V234V|LMBRD1_uc003pfb.3_Non-coding_Transcript NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA. 307 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 ATATTCCCCAGACGATCTAAA 0.269 SYNE1 23345 broad.mit.edu 37 6 152737569 152737569 + Silent SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr6:152737569A>G uc021zhb.1 - 38 6226 c.6003T>C c.(6001-6003)acT>acC p.T2001T SYNE1_uc003qot.4_Silent_p.T2008T|SYNE1_uc003qou.4_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2001 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTCTTTGTCAGTCCTTTCTT 0.448 HNSCC(10;0.0054) CTTNBP2 83992 broad.mit.edu 37 7 117431218 117431218 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr7:117431218G>A uc003vjf.3 - 3 2124 c.2032C>T c.(2032-2034)Cca>Tca p.P678S NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 678 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GAGGCACCTGGTCTACAGGAT 0.468 XKR9 389668 broad.mit.edu 37 8 71593354 71593354 + Missense_Mutation SNP G G T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr8:71593354G>T uc003xyq.3 + 2 595 c.61G>T c.(61-63)Gat>Tat p.D21Y XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Missense_Mutation_p.D21Y NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA. 21 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) CTACGTAACTGATTTAATTGT 0.318 EFR3A 23167 broad.mit.edu 37 8 132966108 132966108 + Missense_Mutation SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr8:132966108A>G uc003yte.3 + 5 736 c.532A>G c.(532-534)Aaa>Gaa p.K178E NM_015137 NP_055952 Q14156 EFR3A_HUMAN Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA. 178 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TGTGGTTCGCAAAACAGTCAA 0.353 FBXO10 26267 broad.mit.edu 37 9 37522884 37522884 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr9:37522884T>C uc004aac.3 - 6 1996 c.1916A>G c.(1915-1917)tAt>tGt p.Y639C FBXO10_uc004aab.3_Missense_Mutation_p.Y623C|FBXO10_uc004aad.3_Missense_Mutation_p.Y173C NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 623 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) ACCATCTGAATAGCCAAAGCA 0.542 SPATA31C2 645961 broad.mit.edu 37 9 90744952 90744952 + Silent SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr9:90744952C>T uc011lti.2 - 3 3029 c.3000G>A c.(2998-3000)aaG>aaA p.K1000K DQ587746_uc004apx.1_5'Flank NM_001166137 NP_001159609 B4DYI2 B4DYI2_HUMAN Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA. 1000 GAGGCTGTTTCTTTGATGGCA 0.438 OR13C8 138802 broad.mit.edu 37 9 107332296 107332296 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chr9:107332296T>C uc011lvo.2 + 0 848 c.848T>C c.(847-849)tTc>tCc p.F283S NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ATCTCCCTTTTCTATGGAGTG 0.408 GEMIN8 54960 broad.mit.edu 37 X 14027172 14027172 + Missense_Mutation SNP G G A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:14027172G>A uc004cwb.3 - 4 932 c.589C>T c.(589-591)Cgc>Tgc p.R197C GEMIN8_uc004cwc.3_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.3_Missense_Mutation_p.R197C NM_017856 NP_060326 Q9NWZ8 GEMI8_HUMAN Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA. 197 spliceosomal snRNP assembly Cajal body|cytoplasm|SMN complex|spliceosomal complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 9 TCGGCCTGGCGCCGCTCACCA 0.612 ZNF645 158506 broad.mit.edu 37 X 22292090 22292090 + Missense_Mutation SNP A A T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:22292090A>T uc004dai.2 + 0 1061 c.982A>T c.(982-984)Att>Ttt p.I328F NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN Homo sapiens zinc finger protein 645 (ZNF645), mRNA. 328 Pro-rich. intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TGGATATATTATTGTAAAGGT 0.438 CXorf22 170063 broad.mit.edu 37 X 35985840 35985840 + Missense_Mutation SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:35985840C>T uc004ddj.3 + 9 1771 c.1705C>T c.(1705-1707)Cgc>Tgc p.R569C CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 569 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGCCATGACACGCACTCACAA 0.453 EFHC2 80258 broad.mit.edu 37 X 44037748 44037748 + Missense_Mutation SNP C C A TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:44037748C>A uc004dgb.4 - 11 1903 c.1814G>T c.(1813-1815)cGt>cTt p.R605L EFHC2_uc022bvg.1_Missense_Mutation_p.R183L NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA. 605 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 ACGGTAGTGACGTGCAATGGT 0.373 ZNF674 641339 broad.mit.edu 37 X 46388335 46388335 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:46388335T>C uc004dgr.3 - 3 252 c.25A>G c.(25-27)Acc>Gcc p.T9A ZNF674_uc011mlg.2_Missense_Mutation_p.T9A|ZNF674_uc022bvl.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A NM_001039891 NP_001034980 Q2M3X9 ZN674_HUMAN Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA. 9 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 TCCTTGAAGGTCAATGATTCC 0.552 CCDC120 90060 broad.mit.edu 37 X 48920041 48920041 + Missense_Mutation SNP G G A rs147084360 TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:48920041G>A uc011mmr.2 + 3 384 c.92G>A c.(91-93)cGt>cAt p.R31H CCDC120_uc010nik.3_Missense_Mutation_p.R31H|CCDC120_uc011mmq.2_Missense_Mutation_p.R19H|CCDC120_uc004dmf.3_Missense_Mutation_p.R31H|CCDC120_uc010nil.3_Missense_Mutation_p.R31H|CCDC120_uc011mms.2_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A NM_001163321 NP_001156793 Q96HB5 CC120_HUMAN Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA. 31 protein binding breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 AAGTCAGAGCGTCTGCGGGGG 0.647 LAS1L 81887 broad.mit.edu 37 X 64737941 64737941 + Missense_Mutation SNP G G T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:64737941G>T uc004dwa.2 - 11 1944 c.1853C>A c.(1852-1854)cCc>cAc p.P618H LAS1L_uc004dwc.2_Missense_Mutation_p.P601H|LAS1L_uc004dwd.2_Missense_Mutation_p.P559H|LAS1L_uc004dvz.2_Missense_Mutation_p.P131H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA. 618 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 CTCGGCAGTGGGGGACTCTTG 0.517 STARD8 9754 broad.mit.edu 37 X 67943638 67943638 + Silent SNP C C G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:67943638C>G uc004dxb.3 + 12 3184 c.2970C>G c.(2968-2970)gtC>gtG p.V990V STARD8_uc004dxa.3_Silent_p.V910V|STARD8_uc004dxc.4_Silent_p.V910V NM_001142503 NP_055540 Q92502 STAR8_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA. 910 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 ACCACTATGTCACCGACAGCA 0.652 ZMYM3 9203 broad.mit.edu 37 X 70469372 70469372 + Missense_Mutation SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:70469372A>G uc004dzh.2 - 6 1588 c.1409T>C c.(1408-1410)cTc>cCc p.L470P BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.2_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.2_Missense_Mutation_p.L201P|ZMYM3_uc004dzl.4_Missense_Mutation_p.L470P NM_201599 NP_963893 Q14202 ZMYM3_HUMAN Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA. 470 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTCGTGGAAGAGGAGCTCAGG 0.562 ATRX 546 broad.mit.edu 37 X 76778818 76778818 + Missense_Mutation SNP T T C TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:76778818T>C uc004ecp.4 - 30 6993 c.6761A>G c.(6760-6762)cAt>cGt p.H2254R ATRX_uc004ecq.4_Missense_Mutation_p.H2216R|ATRX_uc004eco.4_Missense_Mutation_p.H2039R NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 2254 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.H2254R(2) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAGAGAATCATGTTCATGGTA 0.388 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome HDX 139324 broad.mit.edu 37 X 83724095 83724095 + Frame_Shift_Del DEL C C - TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:83724095delC uc011mqv.2 - 3 883 c.636delG c.(634-636)aagfs p.K212fs HDX_uc004eel.2_Frame_Shift_Del_p.K154fs|HDX_uc004eek.2_Frame_Shift_Del_p.K212fs NM_001177479 NP_001170949 Q7Z353 HDX_HUMAN Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA. 212 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ACACAGAAGGCTTTTGAGGTA 0.418 COL4A5 1287 broad.mit.edu 37 X 107840792 107840792 + Silent SNP A A G TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:107840792A>G uc022ccg.1 + 23 1975 c.1773A>G c.(1771-1773)ggA>ggG p.G591G COL4A5_uc004enz.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 591 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GCCCGAAAGGAGAGCCTGTGA 0.463 Alport syndrome with Diffuse Leiomyomatosis GUCY2F 2986 broad.mit.edu 37 X 108708484 108708484 + Missense_Mutation SNP C C T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66350d36-6662-4d4c-9cf8-e052a17cddba 07503119-3ce1-41af-85e6-3f90b92a8c62 g.chrX:108708484C>T uc022cch.1 - 1 1004 c.919G>A c.(919-921)Gcc>Acc p.A307T GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.A307T NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 307 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GCATCATAGGCTTCCCGGAGC 0.488