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 TAS1R1 80835 broad.mit.edu 37 1 6631015 6631015 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:6631015C>T uc001ant.2 + 2 238 c.238C>T c.(238-240)CGG>TGG p.R80W TAS1R1_uc001anu.2_Missense_Mutation_p.R80W|TAS1R1_uc001anv.2_Missense_Mutation_p.R80W|TAS1R1_uc001anw.2_Missense_Mutation_p.R80W NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 80 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CCAGGCTATGCGGCTTGGGGT 0.532 RERE 473 broad.mit.edu 37 1 8419927 8419927 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:8419927C>T uc001ape.2 - 20 4325 c.3515G>A c.(3514-3516)CGC>CAC p.R1172H RERE_uc001apf.2_Missense_Mutation_p.R1172H|RERE_uc001apd.2_Missense_Mutation_p.R618H NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1172 Potential. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTCAGCCTCGCGCTTGGCCTT 0.498 Unknown 0 broad.mit.edu 37 1 9211835 9211835 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:9211835C>T uc009vmq.2 - 2 446 c.340G>A c.(340-342)GCC>ACC p.A114T MIR34A_hsa-mir-34a|MI0000268_RNA EF609116 TCACAGCTGGCCGGTCCACGG 0.542 HTR6 3362 broad.mit.edu 37 1 19992747 19992747 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:19992747C>T uc001bcl.2 + 1 968 c.501C>T c.(499-501)CAC>CAT p.H167H NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 167 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) TGGGCTGGCACGAGCTGGGCC 0.711 RNF19B 127544 broad.mit.edu 37 1 33402782 33402782 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:33402782C>T uc010oho.1 - 9 1824 c.1824G>A c.(1822-1824)ACG>ACA p.T608T RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.T607T NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 608 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCGAGTCCTCCGTGCTGCTTC 0.502 COL9A2 1298 broad.mit.edu 37 1 40770007 40770007 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:40770007G>A uc001cfh.1 - 24 1342 c.1272C>T c.(1270-1272)GGC>GGT p.G424G COL9A2_uc001cfi.1_Silent_p.G243G NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 424 Triple-helical region 3 (COL3). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CTCCTTTGACGCCTGGCAAGC 0.607 LRRC7 57554 broad.mit.edu 37 1 70504762 70504762 + Missense_Mutation SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:70504762G>C uc001dep.2 + 19 3171 c.3141G>C c.(3139-3141)AGG>AGC p.R1047S LRRC7_uc009wbg.2_Missense_Mutation_p.R331S|LRRC7_uc001deq.2_Missense_Mutation_p.R288S NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1047 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCGAAAAGAGGATACCACCCC 0.448 PTGFR 5737 broad.mit.edu 37 1 78958623 78958623 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:78958623G>A uc001din.2 + 2 461 c.195G>A c.(193-195)TCG>TCA p.S65S PTGFR_uc001dim.2_Silent_p.S65S NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 65 Cytoplasmic (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CCAAGGCATCGTTTCTGCTTT 0.423 GBP4 115361 broad.mit.edu 37 1 89650937 89650937 + Nonstop_Mutation SNP T A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:89650937T>A uc001dnb.2 - 11 2039 c.1923A>T c.(1921-1923)TAA>TAT p.*641Y NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 641 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) ATTCAGGCTCTTAAATACGTG 0.343 C1orf161 126868 broad.mit.edu 37 1 116670945 116670945 + Silent SNP G A A rs148441950 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:116670945G>A uc001egc.1 + 6 1105 c.840G>A c.(838-840)ACG>ACA p.T280T NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 280 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CGGTTATCACGTCCCACCATC 0.582 NBPF9 400818 broad.mit.edu 37 1 144823890 144823890 + Nonsense_Mutation SNP C G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:144823890C>G uc009wig.1 + 17 2007 c.1931C>G c.(1930-1932)TCA>TGA p.S644* NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Nonsense_Mutation_p.S445*|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Nonsense_Mutation_p.S304* NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 644 NBPF 4. cytoplasm 0 TCAACTCCTTCAGGTTGTCTT 0.483 FLG 2312 broad.mit.edu 37 1 152283564 152283564 + Missense_Mutation SNP C A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:152283564C>A uc001ezu.1 - 3 3834 c.3798G>T c.(3796-3798)CAG>CAT p.Q1266H uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1266 Ser-rich.|Filaggrin 7. 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) CACTGGATCCCTGGTGCCTGC 0.488 Ichthyosis OR6N2 81442 broad.mit.edu 37 1 158746549 158746549 + Missense_Mutation SNP G A A rs144962739 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:158746549G>A uc010pir.1 - 1 877 c.877C>T c.(877-879)CGT>TGT p.R293C NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TCCTTGTTACGAAGACTGTAG 0.418 IGSF8 93185 broad.mit.edu 37 1 160064843 160064843 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:160064843G>A uc001fva.2 - 2 303 c.258C>T c.(256-258)TTC>TTT p.F86F IGSF8_uc001fuz.2_Silent_p.F86F|IGSF8_uc009wtf.2_Silent_p.F86F NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 86 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CAGCATAGGAGAACTGGGTAT 0.602 SEC16B 89866 broad.mit.edu 37 1 177927423 177927423 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:177927423G>A uc001gli.1 - 10 1299 c.1209C>T c.(1207-1209)CCC>CCT p.P403P SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001glj.1_Silent_p.P404P|SEC16B_uc001gll.3_Silent_p.P404P NM_033127 NP_149118 Q96JE7 SC16B_HUMAN leucine zipper transcription regulator 2 403 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane ovary(3)|central_nervous_system(1) 4 TGGCCACAGGGGGCTGCCGCT 0.587 GPATCH2 55105 broad.mit.edu 37 1 217688167 217688167 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:217688167T>C uc001hlf.1 - 6 1259 c.1163A>G c.(1162-1164)CAT>CGT p.H388R NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 388 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TACTCACTCATGGTGATGAGA 0.353 NVL 4931 broad.mit.edu 37 1 224514105 224514105 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr1:224514105T>C uc001hok.2 - 2 162 c.119A>G c.(118-120)CAA>CGA p.Q40R NVL_uc001hol.2_Intron|NVL_uc010pvd.1_Missense_Mutation_p.Q40R|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_Intron|NVL_uc010pvg.1_Missense_Mutation_p.Q40R NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 40 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) GTACACTCTTTGTAAATCAGA 0.318 OR4P4 81300 broad.mit.edu 37 11 55406513 55406513 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr11:55406513C>T uc010rij.1 + 1 680 c.680C>T c.(679-681)TCT>TTT p.S227F NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AGAGCATACTCTGCAGAGAGA 0.393 OR5D16 390144 broad.mit.edu 37 11 55606713 55606713 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr11:55606713G>A uc010rio.1 + 1 486 c.486G>A c.(484-486)GCG>GCA p.A162A NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 162 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TGACACTCGCGTGCTCTGCTT 0.453 PVRL1 5818 broad.mit.edu 37 11 119535607 119535607 + Nonsense_Mutation SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr11:119535607G>C uc001pwv.2 - 6 1576 c.1404C>G c.(1402-1404)TAC>TAG p.Y468* PVRL1_uc001pwu.1_Intron NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 468 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCACGGTGAAGTAGGGCCGCT 0.582 LEPREL2 10536 broad.mit.edu 37 12 6939135 6939135 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:6939135G>A uc001qra.1 + 4 645 c.611G>A c.(610-612)CGG>CAG p.R204Q LEPREL2_uc001qqz.1_Missense_Mutation_p.R11Q|LEPREL2_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 204 negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCGGGAGTTCGGCCCCAGAGC 0.602 C12orf39 80763 broad.mit.edu 37 12 21681996 21681996 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:21681996G>A uc001rfa.1 + 5 421 c.270G>A c.(268-270)GCG>GCA p.A90A C12orf39_uc009ziv.1_RNA|C12orf39_uc009ziw.1_RNA NM_030572 NP_085049 Q9BT56 SPXN_HUMAN spexin precursor 90 extracellular region|nucleus|transport vesicle 0 TCTTACTGGCGTCCCTTCAGA 0.438 ITPR2 3709 broad.mit.edu 37 12 26628304 26628304 + Silent SNP A G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:26628304A>G uc001rhg.2 - 45 6684 c.6267T>C c.(6265-6267)CAT>CAC p.H2089H ITPR2_uc009zjg.1_Silent_p.H240H NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2089 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CATCATCCCCATGGTCACATT 0.368 SFRS2IP 9169 broad.mit.edu 37 12 46321868 46321868 + Missense_Mutation SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:46321868G>C uc001rox.2 - 11 1903 c.1616C>G c.(1615-1617)ACA>AGA p.T539R SFRS2IP_uc001row.2_Missense_Mutation_p.T224R|SFRS2IP_uc001roy.1_Missense_Mutation_p.T613R NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 539 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) ACATACATCTGTCTTTACCTC 0.363 SPATS2 65244 broad.mit.edu 37 12 49919998 49919998 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:49919998G>A uc001rud.2 + 14 2587 c.1598G>A c.(1597-1599)CGC>CAC p.R533H SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H|SPATS2_uc001rug.2_Missense_Mutation_p.R533H NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 533 cytoplasm p.R533H(1) breast(1) 1 CTCCCCCAGCGCAAACCCAGG 0.522 MGAT4C 25834 broad.mit.edu 37 12 86373320 86373324 + Frame_Shift_Del DEL TTTAC - - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:86373320_86373324delTTTAC uc001tai.3 - 8 2430_2434 c.1180_1184delGTAAA c.(1180-1185)GTAAATfs p.V394fs MGAT4C_uc001tal.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.3_Frame_Shift_Del_p.V394fs|MGAT4C_uc010sum.1_Frame_Shift_Del_p.V418fs|MGAT4C_uc001tah.3_Frame_Shift_Del_p.V394fs NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 394_395 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TGTTCCAGTATTTACtttaattttt 0.346 RFX4 5992 broad.mit.edu 37 12 107033171 107033172 + Splice_Site INS - T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr12:107033171_107033172insT uc001tlr.2 + 3 257 c.191_splice c.e3+1 p.W64_splice RFX4_uc010swv.1_Splice_Site|RFX4_uc001tls.2_Splice_Site_p.W73_splice|RFX4_uc001tlt.2_Splice_Site_p.W73_splice NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 CTCTGCAATGGTAAGTTTCCAT 0.371 FLT3 2322 broad.mit.edu 37 13 28592630 28592630 + Missense_Mutation SNP C G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr13:28592630C>G uc001urw.2 - 20 2597 c.2515G>C c.(2515-2517)GAT>CAT p.D839H FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 839 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.D839?(2) haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TAGTTGGAATCACTCATGATA 0.453 Mis|O AML|ALL RB1 5925 broad.mit.edu 37 13 48955560 48955563 + Frame_Shift_Del DEL AATC - - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr13:48955560_48955563delAATC uc001vcb.2 + 17 1842_1845 c.1676_1679delAATC c.(1675-1680)GAATCCfs p.E559fs NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 559_560 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGAATCATGGAATCCCTTGCATGG 0.328 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) LOC647288 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr13:75814354C>G uc010ths.1 - 1 164 c.123G>C c.(121-123)TGG>TGC p.W41C NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 CCACCAGTTCCCATGGAAAAC 0.488 PSMA3 5684 broad.mit.edu 37 14 58737688 58737688 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr14:58737688T>C uc001xdj.1 + 10 741 c.695T>C c.(694-696)ATA>ACA p.I232T C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.I225T|uc001xdl.2_Intron NM_002788 NP_002779 P25788 PSA3_HUMAN proteasome alpha 3 subunit isoform 1 232 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 protein binding|threonine-type endopeptidase activity 0 CCAAAAGATATAAGAGAAGAA 0.289 CDCA4 55038 broad.mit.edu 37 14 105477700 105477700 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr14:105477700G>A uc001yqa.2 - 2 663 c.567C>T c.(565-567)TAC>TAT p.Y189Y CDCA4_uc001yqb.2_Silent_p.Y189Y NM_145701 NP_663747 Q9BXL8 CDCA4_HUMAN cell division cycle associated 4 189 nucleus ovary(1) 1 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.142) TGTCCAGGTCGTAGTAGGGGC 0.587 MKRN3 7681 broad.mit.edu 37 15 23812072 23812072 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:23812072G>A uc001ywh.3 + 1 1619 c.1143G>A c.(1141-1143)GAG>GAA p.E381E MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.E381E NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 381 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TGGAGGAGGAGGAAGAGAAGC 0.507 FMN1 342184 broad.mit.edu 37 15 33358855 33358855 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:33358855G>A uc001zhf.3 - 1 1231 c.1231C>T c.(1231-1233)CGG>TGG p.R411W FMN1_uc001zhg.2_Missense_Mutation_p.R411W NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTGGGGGGCCGGATGAATAGG 0.567 GPR176 11245 broad.mit.edu 37 15 40093624 40093624 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:40093624C>T uc001zkj.1 - 3 2123 c.1257G>A c.(1255-1257)GCG>GCA p.A419A GPR176_uc010uck.1_Silent_p.A359A NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 419 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) GGGCAGAGGGCGCAAACTGTG 0.572 PLA2G4D 283748 broad.mit.edu 37 15 42364007 42364007 + Missense_Mutation SNP C A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:42364007C>A uc001zox.2 - 15 1633 c.1538G>T c.(1537-1539)AGG>ATG p.R513M NM_178034 NP_828848 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD 513 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity large_intestine(1)|skin(1) 2 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CGGGATCCTCCTCATCAGCCG 0.617 C15orf48 84419 broad.mit.edu 37 15 45724277 45724277 + Nonsense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:45724277C>T uc001zvg.2 + 4 248 c.130C>T c.(130-132)CGA>TGA p.R44* C15orf48_uc001zvh.2_Nonsense_Mutation_p.R44*|MIR147B_hsa-mir-147b|MI0005544_5'Flank NM_197955 NP_922946 Q9C002 NMES1_HUMAN normal mucosa of esophagus specific 1 44 nucleus ovary(1) 1 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) TAGCCTTGATCGAAAAAAAAA 0.313 UACA 55075 broad.mit.edu 37 15 70970467 70970467 + Missense_Mutation SNP C T T rs145715387 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr15:70970467C>T uc002asr.2 - 11 1074 c.970G>A c.(970-972)GTC>ATC p.V324I UACA_uc010uke.1_Missense_Mutation_p.V215I|UACA_uc002asq.2_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 324 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 AAACCATTGACTTTATCCAAA 0.284 MYH11 4629 broad.mit.edu 37 16 15857677 15857677 + Nonsense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:15857677G>A uc002ddy.2 - 10 1212 c.1105C>T c.(1105-1107)CAG>TAG p.Q369* MYH11_uc002ddv.2_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.2_Nonsense_Mutation_p.Q369*|MYH11_uc002ddx.2_Nonsense_Mutation_p.Q376*|MYH11_uc010bvg.2_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75* NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 369 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 ATGGACGCCTGGTCTGTGTTT 0.507 T CBFB AML DNAH3 55567 broad.mit.edu 37 16 21145656 21145656 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:21145656C>T uc010vbe.1 - 7 1006 c.1006G>A c.(1006-1008)GCC>ACC p.A336T DNAH3_uc002die.2_Missense_Mutation_p.A307T NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 336 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CACTTCTTGGCGCTCCTGTAG 0.527 ITGAD 3681 broad.mit.edu 37 16 31426282 31426282 + Silent SNP C T T rs144306080 byFrequency TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:31426282C>T uc002ebv.1 + 18 2302 c.2253C>T c.(2251-2253)GCC>GCT p.A751A ITGAD_uc010cap.1_Silent_p.A752A NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 751 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 CTGTGCTGGCCGTGGGCTCAC 0.537 CYLD 1540 broad.mit.edu 37 16 50815179 50815179 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:50815179C>T uc002egp.1 + 10 1956 c.1541C>T c.(1540-1542)ACG>ATG p.T514M CYLD_uc002ego.2_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 514 CAP-Gly 3.|Interaction with TRIP.|Interaction with IKBKG/NEMO. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.T514fs*29(1) skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) GCAGGCTGTACGGATGGAACC 0.453 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial LRRC50 123872 broad.mit.edu 37 16 84203580 84203580 + Missense_Mutation SNP C A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr16:84203580C>A uc002fhl.3 + 8 1327 c.1146C>A c.(1144-1146)AGC>AGA p.S382R LRRC50_uc010vnw.1_Missense_Mutation_p.S146R NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 382 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 TTAAGGAAAGCTTTGAGGCCA 0.577 Kartagener_syndrome NLRP1 22861 broad.mit.edu 37 17 5463322 5463322 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:5463322G>A uc002gci.2 - 4 1249 c.694C>T c.(694-696)CCC>TCC p.P232S NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gck.2_Missense_Mutation_p.P232S|NLRP1_uc002gcj.2_Missense_Mutation_p.P232S|NLRP1_uc002gcl.2_Missense_Mutation_p.P232S|NLRP1_uc002gch.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.2_Missense_Mutation_p.P232S NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 232 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCCCATGGGGGCCTGCCTTTC 0.507 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C T T rs28934575 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:7577548C>T uc002gim.2 - 7 927 c.733G>A c.(733-735)GGC>AGC p.G245S TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) MYH8 4626 broad.mit.edu 37 17 10297588 10297588 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:10297588C>T uc002gmm.2 - 35 5239 c.5144G>A c.(5143-5145)CGT>CAT p.R1715H uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1715 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GAGCTGGACACGCTCACTGGC 0.512 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling CCL13 6357 broad.mit.edu 37 17 32685057 32685057 + Missense_Mutation SNP A C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:32685057A>C uc002hic.2 + 3 279 c.204A>C c.(202-204)AAA>AAC p.K68N NM_005408 NP_005399 Q99616 CCL13_HUMAN small inducible cytokine A13 precursor 68 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response extracellular space chemokine activity|signal transducer activity 0 Ovarian(249;0.0443)|Breast(31;0.151) TCAGAACCAAACTGGGCAAGG 0.512 KRT25 147183 broad.mit.edu 37 17 38911514 38911514 + Nonsense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:38911514G>A uc002hve.2 - 1 71 c.10C>T c.(10-12)CGA>TGA p.R4* NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 4 Head. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) CTGGAAAGTCGAAGAGACATG 0.488 DHX8 1659 broad.mit.edu 37 17 41601142 41601142 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:41601142G>A uc002idu.1 + 23 3663 c.3590G>A c.(3589-3591)CGT>CAT p.R1197H DHX8_uc010wig.1_Intron NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1197 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) AAGCAACAGCGTCTTGAACCC 0.517 TBX21 30009 broad.mit.edu 37 17 45822386 45822386 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr17:45822386G>A uc002ilv.1 + 6 1473 c.1262G>A c.(1261-1263)CGA>CAA p.R421Q NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 421 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 TCCTACTACCGAGGCCAGGAG 0.662 MC2R 4158 broad.mit.edu 37 18 13885081 13885081 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr18:13885081C>T uc002ksp.1 - 2 614 c.437G>A c.(436-438)CGC>CAC p.R146H NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 146 Cytoplasmic (By similarity). R -> H (in GCCD1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) CACCACAGTGCGGCGCATGGT 0.577 ATP5A1 498 broad.mit.edu 37 18 43668121 43668121 + Silent SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr18:43668121T>C uc002lbr.1 - 6 843 c.753A>G c.(751-753)CAA>CAG p.Q251Q ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q NM_004046 NP_004037 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 251 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism 0 TGGATCTCTTTTGACCAATAG 0.368 INSR 3643 broad.mit.edu 37 19 7117197 7117197 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:7117197G>A uc002mgd.1 - 22 4128 c.4019C>T c.(4018-4020)GCG>GTG p.A1340V INSR_uc002mge.1_Missense_Mutation_p.A1328V NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1340 Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGGCCCCCCGCCTCCTCCCT 0.592 FBN3 84467 broad.mit.edu 37 19 8160957 8160957 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:8160957G>A uc002mjf.2 - 44 5568 c.5547C>T c.(5545-5547)GAC>GAT p.D1849D NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1849 EGF-like 29; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGTCACACTCGTCAATGTCTG 0.582 OR7C1 26664 broad.mit.edu 37 19 14910414 14910414 + Frame_Shift_Del DEL A - - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:14910414delA uc010xnz.1 - 1 535 c.535delT c.(535-537)TGTfs p.C179fs NM_198944 NP_945182 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, 179 Extracellular (Potential). sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 AGTAGATCACAAAAAAAGTGT 0.478 UPF1 5976 broad.mit.edu 37 19 18976409 18976409 + Missense_Mutation SNP G A A rs139317612 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:18976409G>A uc002nkg.2 + 22 3367 c.3092G>A c.(3091-3093)CGC>CAC p.R1031H UPF1_uc002nkf.2_Missense_Mutation_p.R1020H|UPF1_uc002nkh.2_Missense_Mutation_p.R275H NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 1031 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGTGGGGGACGCCAGAAGAAC 0.642 PLEKHG2 64857 broad.mit.edu 37 19 39908257 39908257 + Silent SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:39908257T>C uc010xuz.1 + 8 1132 c.807T>C c.(805-807)GCT>GCC p.A269A PLEKHG2_uc010xuy.1_Silent_p.A210A|PLEKHG2_uc002olj.2_Silent_p.A269A|PLEKHG2_uc010xva.1_Silent_p.A76A NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 269 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGAGGAAGCTATTGTGTCCA 0.602 XRCC1 7515 broad.mit.edu 37 19 44057610 44057610 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:44057610C>T uc002owt.2 - 6 664 c.544G>A c.(544-546)GCC>ACC p.A182T XRCC1_uc010xwp.1_Missense_Mutation_p.A151T NM_006297 NP_006288 P18887 XRCC1_HUMAN X-ray repair cross complementing protein 1 182 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1) 7 Prostate(69;0.0153) AGAGAGTTGGCGCTCTCATCC 0.502 Other_BER_factors NLRP2 55655 broad.mit.edu 37 19 55501996 55501996 + Silent SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:55501996G>C uc002qij.2 + 10 2750 c.2664G>C c.(2662-2664)CTG>CTC p.L888L NLRP2_uc010yfp.1_Silent_p.L865L|NLRP2_uc010esn.2_Silent_p.L864L|NLRP2_uc010eso.2_Silent_p.L885L|NLRP2_uc010esp.2_Silent_p.L866L NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 888 LRR 3. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGAAGTTTCTGTGTGAGGGCT 0.567 NLRP5 126206 broad.mit.edu 37 19 56539073 56539073 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr19:56539073G>A uc002qmj.2 + 7 1474 c.1474G>A c.(1474-1476)GCC>ACC p.A492T NLRP5_uc002qmi.2_Missense_Mutation_p.A473T NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 492 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GGAGAGCGTCGCCCCCTTCAA 0.637 DYSF 8291 broad.mit.edu 37 2 71909724 71909724 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:71909724C>T uc002sie.2 + 54 6497 c.6121C>T c.(6121-6123)CGG>TGG p.R2041W DYSF_uc010feg.2_Missense_Mutation_p.R2072W|DYSF_uc010feh.2_Missense_Mutation_p.R2048W|DYSF_uc002sig.3_Missense_Mutation_p.R2027W|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R2062W|DYSF_uc010fef.2_Missense_Mutation_p.R2079W|DYSF_uc010fei.2_Missense_Mutation_p.R2058W|DYSF_uc010fek.2_Missense_Mutation_p.R2059W|DYSF_uc010fej.2_Missense_Mutation_p.R2049W|DYSF_uc010fel.2_Missense_Mutation_p.R2028W|DYSF_uc010feo.2_Missense_Mutation_p.R2073W|DYSF_uc010fem.2_Missense_Mutation_p.R2063W|DYSF_uc010fen.2_Missense_Mutation_p.R2080W|DYSF_uc002sif.2_Missense_Mutation_p.R2042W|DYSF_uc010yqy.1_Missense_Mutation_p.R922W|DYSF_uc010yqz.1_Missense_Mutation_p.R802W NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 2041 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CATCCTGTGGCGGCGTTTCCG 0.522 ASTL 431705 broad.mit.edu 37 2 96798441 96798441 + Missense_Mutation SNP G A A rs145986421 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:96798441G>A uc010yui.1 - 6 475 c.475C>T c.(475-477)CGC>TGC p.R159C NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 159 proteolysis metalloendopeptidase activity|zinc ion binding 0 CCTCCACTGCGCCCCACACTC 0.627 NEB 4703 broad.mit.edu 37 2 152470900 152470900 + Nonsense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:152470900G>A uc010fnx.2 - 73 10953 c.10762C>T c.(10762-10764)CAG>TAG p.Q3588* NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3588 Nebulin 98. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ACAAGGATCTGACACTTCTTG 0.527 ZNF804A 91752 broad.mit.edu 37 2 185801478 185801478 + Nonsense_Mutation SNP C G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:185801478C>G uc002uph.2 + 4 1949 c.1355C>G c.(1354-1356)TCA>TGA p.S452* NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 452 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ACGAAACCATCAATTTCCTAT 0.333 COL3A1 1281 broad.mit.edu 37 2 189851838 189851838 + Silent SNP A G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:189851838A>G uc002uqj.1 + 5 618 c.501A>G c.(499-501)GGA>GGG p.G167G NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 167 Nonhelical region (N-terminal). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TAGCAGTAGGAGGACTCGCAG 0.403 COL3A1 1281 broad.mit.edu 37 2 189864035 189864035 + Missense_Mutation SNP C A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:189864035C>A uc002uqj.1 + 30 2164 c.2047C>A c.(2047-2049)CGT>AGT p.R683S NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 683 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCCTGGTGAACGTGGACCTCC 0.493 ANKAR 150709 broad.mit.edu 37 2 190571779 190571779 + Missense_Mutation SNP A C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:190571779A>C uc002uqw.1 + 8 1813 c.1813A>C c.(1813-1815)ATC>CTC p.I605L ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 676 ANK 5. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AAATAATATAATCCATTTATC 0.343 ZNF142 7701 broad.mit.edu 37 2 219507508 219507508 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:219507508C>T uc002vin.2 - 8 4167 c.3731G>A c.(3730-3732)CGC>CAC p.R1244H ZNF142_uc002vil.2_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.2_Missense_Mutation_p.R1081H|ZNF142_uc002vim.2_Missense_Mutation_p.R1081H NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1244 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCGGTGCAAGCGCAGTTTCGA 0.542 KIAA1486 57624 broad.mit.edu 37 2 226447451 226447451 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:226447451G>A uc002voe.2 + 4 1493 c.1318G>A c.(1318-1320)GTC>ATC p.V440I KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.V210I NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 440 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) TCCCTCCCCCGTCAGCATGGG 0.642 TRPM8 79054 broad.mit.edu 37 2 234891861 234891861 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr2:234891861C>T uc002vvh.2 + 20 2794 c.2754C>T c.(2752-2754)GAC>GAT p.D918D TRPM8_uc010fyj.2_Silent_p.D496D|TRPM8_uc010fyk.2_RNA NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 918 Extracellular (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGCCCAGTGACGTGGATGGTA 0.592 VPS16 64601 broad.mit.edu 37 20 2843940 2843940 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr20:2843940G>A uc002whe.2 + 15 1420 c.1372G>A c.(1372-1374)GTG>ATG p.V458M VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.V314M|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.V144M|VPS16_uc002whi.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 458 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 TACCAGGCTCGTGTTGCGGAG 0.592 SMOX 54498 broad.mit.edu 37 20 4162543 4162543 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr20:4162543C>T uc002wkm.1 + 4 730 c.529C>T c.(529-531)CGT>TGT p.R177C SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.R177C|SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wko.1_Missense_Mutation_p.R177C NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 177 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) AGAGGAGGTGCGTAACCGCAT 0.537 ZNF831 128611 broad.mit.edu 37 20 57767832 57767832 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr20:57767832C>T uc002yan.2 + 1 1758 c.1758C>T c.(1756-1758)GAC>GAT p.D586D NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 586 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AGGACACAGACGCAAAGAGAA 0.672 SAMSN1 64092 broad.mit.edu 37 21 15889263 15889263 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr21:15889263T>C uc002yju.1 - 3 311 c.229A>G c.(229-231)ATG>GTG p.M77V SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 77 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTTTTCTTCATTGTCCATGAA 0.338 CAND2 23066 broad.mit.edu 37 3 12858462 12858462 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr3:12858462C>T uc003bxk.2 + 10 2080 c.2031C>T c.(2029-2031)GAC>GAT p.D677D CAND2_uc003bxj.2_Silent_p.D584D NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 677 HEAT 14. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CAGCCCTGGACGCCCTGGCCC 0.662 SCN10A 6336 broad.mit.edu 37 3 38748876 38748876 + Splice_Site SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr3:38748876T>C uc003ciq.2 - 25 4282 c.4282_splice c.e25-1 p.L1428_splice NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCCCCCTAAGTGCAGAGAGGG 0.512 PCOLCE2 26577 broad.mit.edu 37 3 142557612 142557612 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr3:142557612G>A uc003evd.2 - 5 906 c.710C>T c.(709-711)GCG>GTG p.A237V NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 237 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 TGCTACTTACGCAGGTGGACT 0.378 GPR78 27201 broad.mit.edu 37 4 8582980 8582980 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:8582980T>C uc003glk.2 + 1 690 c.271T>C c.(271-273)TCC>CCC p.S91P CPZ_uc003gll.2_RNA NM_080819 NP_543009 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 91 Helical; Name=3; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|ovary(2) 6 CTTCCTGGCGTCCAACGCGGC 0.706 NCAPG 64151 broad.mit.edu 37 4 17816578 17816578 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:17816578G>A uc003gpp.2 + 4 823 c.647G>A c.(646-648)CGC>CAC p.R216H NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 216 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) ATTGTAGGGCGCACCAAGGAT 0.398 LGI2 55203 broad.mit.edu 37 4 25014103 25014103 + Missense_Mutation SNP G T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:25014103G>T uc003grf.2 - 7 773 c.674C>A c.(673-675)ACT>AAT p.T225N NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 225 EAR 1. extracellular region 0 Breast(46;0.173) GTAGGGTAAAGTCTGATGAAC 0.473 GABRG1 2565 broad.mit.edu 37 4 46043100 46043100 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:46043100G>A uc003gxb.2 - 9 1455 c.1303C>T c.(1303-1305)CGC>TGC p.R435C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 435 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTGGCAATGCGTATGTGTATC 0.403 UGT2B4 7363 broad.mit.edu 37 4 70361563 70361563 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:70361563G>A uc003hek.3 - 1 64 c.17C>T c.(16-18)ACT>ATT p.T6I UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.T6I NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 6 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 AAGAGCTGAAGTCCATTTCAT 0.443 PF4 5196 broad.mit.edu 37 4 74847163 74847163 + Silent SNP G A A rs144253863 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:74847163G>A uc003hhi.2 - 2 234 c.189C>T c.(187-189)GCC>GCT p.A63A NM_002619 NP_002610 P02776 PLF4_HUMAN platelet factor 4 (chemokine (C-X-C motif) 63 cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production extracellular space|platelet alpha granule lumen chemokine activity|heparin binding 0 Breast(15;0.00136) all cancers(17;0.0034)|Lung(101;0.196) Drotrecogin alfa(DB00055) AGTGGGGTCCGGCCTTGATCA 0.612 MEPE 56955 broad.mit.edu 37 4 88766796 88766796 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:88766796G>A uc003hqy.2 + 4 815 c.776G>A c.(775-777)GGC>GAC p.G259D MEPE_uc010ikn.2_Missense_Mutation_p.G146D NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 259 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGTGGGGACGGCCAACCTTTT 0.453 FAM13A 10144 broad.mit.edu 37 4 89668975 89668975 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr4:89668975T>C uc003hse.1 - 18 2397 c.2189A>G c.(2188-2190)GAC>GGC p.D730G FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 730 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 GGGAGTTAGGTCCTCTTCAGA 0.348 CDH18 1016 broad.mit.edu 37 5 19747074 19747074 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:19747074G>A uc003jgc.2 - 3 877 c.500C>T c.(499-501)ACT>ATT p.T167I CDH18_uc003jgd.2_Missense_Mutation_p.T167I|CDH18_uc011cnm.1_Missense_Mutation_p.T167I NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 167 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTCAGGCACAGTAACAATGTA 0.338 HEATR7B2 133558 broad.mit.edu 37 5 41012778 41012778 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:41012778G>A uc003jmj.3 - 30 3532 c.3042C>T c.(3040-3042)GAC>GAT p.D1014D HEATR7B2_uc003jmi.3_Silent_p.D569D NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1014 binding ovary(6)|central_nervous_system(2) 8 TCTCCAGACCGTCCAGCATTT 0.478 TTC37 9652 broad.mit.edu 37 5 94834176 94834176 + Missense_Mutation SNP T A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:94834176T>A uc003klb.2 - 33 3731 c.3461A>T c.(3460-3462)CAC>CTC p.H1154L NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1154 binding ovary(3)|pancreas(1) 4 ACTGTCTTTGTGTTTGATGTG 0.448 SPOCK1 6695 broad.mit.edu 37 5 136476318 136476318 + Nonsense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr5:136476318G>A uc003lbo.2 - 3 489 c.298C>T c.(298-300)CAG>TAG p.Q100* SPOCK1_uc003lbp.2_Nonsense_Mutation_p.Q100* NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 100 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGTAGTCCTGGGTCACACAC 0.617 GTF2H4 2968 broad.mit.edu 37 6 30876944 30876944 + Missense_Mutation SNP T G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:30876944T>G uc003nsa.1 + 2 338 c.131T>G c.(130-132)GTC>GGC p.V44G GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Missense_Mutation_p.V50G NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 44 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 TGTCTGGCTGTCTTCAGGTGA 0.527 NER LYPLA2P1 653639 broad.mit.edu 37 6 33333333 33333333 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:33333333G>A uc003shx.2 - 1 807 c.673C>T c.(673-675)CCT>TCT p.P225S NR_001444 SubName: Full=Lysophospholipase II; Flags: Fragment; 0 AGTTAGACAGGAGGCAGCAGC 0.577 LYPLA2P1 653639 broad.mit.edu 37 6 33333342 33333342 + Silent SNP G A A rs140475230 by1000genomes TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:33333342G>A uc003shx.2 - 1 798 c.664C>T c.(664-666)CTG>TTG p.L222L NR_001444 SubName: Full=Lysophospholipase II; Flags: Fragment; 0 GGAGGCAGCAGCTTCTCAAGA 0.562 AARS2 57505 broad.mit.edu 37 6 44268962 44268962 + Silent SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:44268962G>C uc010jza.1 - 21 2727 c.2724C>G c.(2722-2724)CCC>CCG p.P908P SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 908 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGACGTGCTGGGGGCCTGCT 0.647 LGSN 51557 broad.mit.edu 37 6 63991036 63991036 + Silent SNP G T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:63991036G>T uc003peh.2 - 4 454 c.420C>A c.(418-420)GCC>GCA p.A140A LGSN_uc003pei.2_Silent_p.A140A NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 140 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) TAAAACATGTGGCTCTTATGT 0.408 SLC22A2 6582 broad.mit.edu 37 6 160679391 160679391 + Silent SNP C T T rs112210325 byFrequency TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:160679391C>T uc003qtf.2 - 1 569 c.399G>A c.(397-399)TCG>TCA p.S133S SLC22A2_uc003qte.1_Silent_p.S133S|SLC22A2_uc003qth.1_Silent_p.S133S NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 133 Extracellular (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TGACGATGGACGAGCCAGGCG 0.627 MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T - - TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr6:168317900delT uc003qwd.2 + 19 2815 c.2673delT c.(2671-2673)CCTfs p.P891fs MLLT4_uc003qwb.1_Frame_Shift_Del_p.P876fs|MLLT4_uc003qwc.1_Frame_Shift_Del_p.P892fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.P201fs NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL MAD1L1 8379 broad.mit.edu 37 7 2269722 2269722 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:2269722G>A uc003slh.1 - 3 313 c.47C>T c.(46-48)TCT>TTT p.S16F MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.2_Missense_Mutation_p.S16F NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 16 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GTTGTTCAAAGATCTCAGGGT 0.537 SDK1 221935 broad.mit.edu 37 7 4009042 4009042 + Missense_Mutation SNP C T T rs145189416 TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:4009042C>T uc003smx.2 + 11 1839 c.1700C>T c.(1699-1701)ACG>ATG p.T567M NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 567 Ig-like C2-type 5. 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) GCATCGGCCACGCTCACTGTG 0.587 POM121L12 285877 broad.mit.edu 37 7 53103741 53103741 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:53103741G>A uc003tpz.2 + 1 393 c.377G>A c.(376-378)CGT>CAT p.R126H NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 126 0 GGGCTGTGTCGTGCCTGGAAC 0.672 DGKI 9162 broad.mit.edu 37 7 137363356 137363356 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:137363356C>T uc003vtt.2 - 3 554 c.553G>A c.(553-555)GTC>ATC p.V185I DGKI_uc003vtu.2_5'UTR NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 185 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TCTCCCGAGACGTTGGTCTCC 0.507 HTR5A 3361 broad.mit.edu 37 7 154863096 154863096 + Missense_Mutation SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:154863096G>A uc003wlu.1 + 1 551 c.487G>A c.(487-489)GCG>ACG p.A163T uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 163 Helical; Name=4; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CGTCATGATCGCGCTCACCTG 0.627 EN2 2020 broad.mit.edu 37 7 155251752 155251752 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:155251752C>T uc003wmb.2 + 1 929 c.680C>T c.(679-681)TCT>TTT p.S227F NM_001427 NP_001418 P19622 HME2_HUMAN engrailed homeobox 2 227 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACCGGCCTTCTTCAGGTGAG 0.726 LMBR1 64327 broad.mit.edu 37 7 156521400 156521400 + Missense_Mutation SNP C G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr7:156521400C>G uc003wmw.3 - 11 1068 c.853G>C c.(853-855)GCT>CCT p.A285P LMBR1_uc003wmv.3_Missense_Mutation_p.A133P|LMBR1_uc003wmx.3_Missense_Mutation_p.A133P|LMBR1_uc010lqn.2_Missense_Mutation_p.A326P|LMBR1_uc011kvx.1_Missense_Mutation_p.A264P NM_022458 NP_071903 Q8WVP7 LMBR1_HUMAN limb region 1 protein 285 Potential.|Cytoplasmic (Potential). integral to membrane receptor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) CATGCTGAAGCCTTTTTTCGC 0.299 TUSC3 7991 broad.mit.edu 37 8 15508246 15508246 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:15508246C>T uc003wwt.2 + 3 559 c.349C>T c.(349-351)CGC>TGC p.R117C TUSC3_uc003wwr.2_Missense_Mutation_p.R117C|TUSC3_uc003wws.2_Missense_Mutation_p.R117C|TUSC3_uc003wwu.2_Missense_Mutation_p.R117C|TUSC3_uc003wwv.2_Missense_Mutation_p.R117C|TUSC3_uc003www.2_Missense_Mutation_p.R117C|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R117C NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 117 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) GAACTCCTGGCGCTATTCATC 0.398 MSR1 4481 broad.mit.edu 37 8 16021625 16021625 + Missense_Mutation SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:16021625G>C uc003wwz.2 - 5 964 c.766C>G c.(766-768)CTG>GTG p.L256V MSR1_uc010lsu.2_Missense_Mutation_p.L274V|MSR1_uc003wxa.2_Missense_Mutation_p.L256V|MSR1_uc003wxb.2_Missense_Mutation_p.L256V|MSR1_uc011kxz.1_Missense_Mutation_p.L30V NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 256 Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CAATCTTTCAGTCTGAGATCA 0.308 EFCAB1 79645 broad.mit.edu 37 8 49643175 49643175 + Silent SNP A G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:49643175A>G uc003xqo.2 - 3 403 c.243T>C c.(241-243)GAT>GAC p.D81D EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 81 EF-hand 1.|1 (Potential). calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TTACACAGCCATCATTATCTT 0.368 COLEC10 10584 broad.mit.edu 37 8 120118082 120118082 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:120118082C>T uc003yoo.2 + 6 583 c.486C>T c.(484-486)ATC>ATT p.I162I NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 162 C-type lectin. collagen|cytoplasm mannose binding ovary(2)|skin(1) 3 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) TCTACTACATCGTGCAGGAAG 0.458 CYP11B1 1584 broad.mit.edu 37 8 143956451 143956451 + Silent SNP G A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr8:143956451G>A uc003yxi.2 - 8 1327 c.1320C>T c.(1318-1320)CAC>CAT p.H440H CYP11B1_uc010mex.2_Silent_p.H139H|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Silent_p.H511H NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 440 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CAAAGGGCACGTGGTAGAAGT 0.652 Familial_Hyperaldosteronism_type_I TAF1L 138474 broad.mit.edu 37 9 32633905 32633905 + Missense_Mutation SNP C A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:32633905C>A uc003zrg.1 - 1 1763 c.1673G>T c.(1672-1674)CGA>CTA p.R558L uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 558 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CAAGAGAATTCGACTCTTCTT 0.458 NOL6 65083 broad.mit.edu 37 9 33465223 33465223 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:33465223T>C uc003zsz.2 - 20 2764 c.2663A>G c.(2662-2664)GAG>GGG p.E888G SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.E885G|NOL6_uc011lob.1_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 888 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GGTGAAGGGCTCAGGGTGCAG 0.602 TRPM3 80036 broad.mit.edu 37 9 73167906 73167906 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:73167906C>T uc004aid.2 - 23 3636 c.3392G>A c.(3391-3393)AGG>AAG p.R1131K TRPM3_uc004ahu.2_Missense_Mutation_p.R973K|TRPM3_uc004ahv.2_Missense_Mutation_p.R933K|TRPM3_uc004ahw.2_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.2_Missense_Mutation_p.R990K|TRPM3_uc004ahy.2_Missense_Mutation_p.R993K|TRPM3_uc004ahz.2_Missense_Mutation_p.R980K|TRPM3_uc004aia.2_Missense_Mutation_p.R978K|TRPM3_uc004aib.2_Missense_Mutation_p.R968K|TRPM3_uc004aic.2_Missense_Mutation_p.R1131K NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1156 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GAGCTGATACCTCTGAAACTT 0.423 IKBKAP 8518 broad.mit.edu 37 9 111658909 111658909 + Missense_Mutation SNP T A A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:111658909T>A uc004bdm.3 - 25 3123 c.2603A>T c.(2602-2604)GAT>GTT p.D868V IKBKAP_uc004bdl.2_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.1_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.2_Missense_Mutation_p.D519V NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 868 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 AGCATCAGGATCAGAGGGAGC 0.368 SPTAN1 6709 broad.mit.edu 37 9 131371470 131371470 + Missense_Mutation SNP G C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:131371470G>C uc004bvl.3 + 36 4778 c.4665G>C c.(4663-4665)CAG>CAC p.Q1555H SPTAN1_uc004bvm.3_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.3_Missense_Mutation_p.Q1535H NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1555 Spectrin 17. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCCTCCAACAGTTCAGCCGGG 0.473 LHX3 8022 broad.mit.edu 37 9 139092592 139092592 + Silent SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chr9:139092592C>T uc004cha.2 - 2 184 c.87G>A c.(85-87)CCG>CCA p.P29P LHX3_uc004cgz.2_Silent_p.P34P NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 29 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) CAGCGCACAGCGGGATCTCTG 0.632 PCYT1B 9468 broad.mit.edu 37 X 24580418 24580418 + Missense_Mutation SNP C G G TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:24580418C>G uc004dbi.2 - 8 1335 c.1102G>C c.(1102-1104)GAA>CAA p.E368Q PCYT1B_uc004dbk.3_Intron|PCYT1B_uc004dbj.2_Missense_Mutation_p.E350Q NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 368 endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) CTCTACTTTTCATCCTCATCC 0.577 DMD 1756 broad.mit.edu 37 X 32563337 32563337 + Missense_Mutation SNP G T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:32563337G>T uc004dda.1 - 17 2351 c.2107C>A c.(2107-2109)CTT>ATT p.L703I DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.L695I NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 703 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) GGTGGTGGAAGTTCCTCTTGA 0.448 CXorf22 170063 broad.mit.edu 37 X 35989828 35989828 + Missense_Mutation SNP C T T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:35989828C>T uc004ddj.2 + 12 2155 c.2096C>T c.(2095-2097)GCG>GTG p.A699V CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 699 large_intestine(1)|lung(1)|ovary(1) 3 TCAATTAGAGCGAATCGATTG 0.448 THOC2 57187 broad.mit.edu 37 X 122799597 122799597 + Missense_Mutation SNP T C C TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a14ae5c3-fee0-4ed7-9080-51056ce62ef2 7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213 g.chrX:122799597T>C uc004etu.2 - 12 1314 c.1282A>G c.(1282-1284)AGG>GGG p.R428G THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 428 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ACGTCTCTCCTCAAATCTTCA 0.403